Author: "Eeles, R.A." - Searchworks@Jio Institute Digital Library Search Results

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165 results on '"Eeles, R.A."'

1. Management of patients with advanced prostate cancer: recommendations of the St Gallen Advanced Prostate Cancer Consensus Conference (APCCC) 2015

Author: Gillessen, S., Omlin, A., Attard, G., de Bono, J.S., Efstathiou, E., Fizazi, K., Halabi, S., Nelson, P.S., Sartor, O., Smith, M.R., Soule, H.R., Akaza, H., Beer, T.M., Beltran, H., Chinnaiyan, A.M., Daugaard, G., Davis, I.D., De Santis, M., Drake, C.G., Eeles, R.A., Fanti, S., Gleave, M.E., Heidenreich, A., Hussain, M., James, N.D., Lecouvet, F.E., Logothetis, C.J., Mastris, K., Nilsson, S., Oh, W.K., Olmos, D., Padhani, A.R., Parker, C., Rubin, M.A., Schalken, J.A., Scher, H.I., Sella, A., Shore, N.D., Small, E.J., Sternberg, C.N., Suzuki, H., Sweeney, C.J., Tannock, I.F., and Tombal, B.
Published: 2015
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2. A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.

Author: Bancroft E.K., Page E.C., Brook M.N., Thomas S., Taylor N., Pope J., McHugh J., Jones A.-B., Karlsson Q., Merson S., Ong K.R., Hoffman J., Huber C., Maehle L., Grindedal E.M., Stormorken A., Evans D.G., Rothwell J., Lalloo F., Brady A.F., Bartlett M., Snape K., Hanson H., James P., McKinley J., Mascarenhas L., Syngal S., Ukaegbu C., Side L., Thomas T., Barwell J., Teixeira M.R., Izatt L., Suri M., Macrae F.A., Poplawski N., Chen-Shtoyerman R., Ahmed M., Musgrave H., Nicolai N., Greenhalgh L., Brewer C., Pachter N., Spigelman A.D., Azzabi A., Helfand B.T., Halliday D., Buys S., Ramon Y Cajal T., Donaldson A., Cooney K.A., Harris M., McGrath J., Davidson R., Taylor A., Cooke P., Myhill K., Hogben M., Aaronson N.K., Ardern-Jones A., Bangma C.H., Castro E., Dearnaley D., Dias A., Dudderidge T., Eccles D.M., Green K., Eyfjord J., Falconer A., Foster C.S., Gronberg H., Hamdy F.C., Johannsson O., Khoo V., Lilja H., Lindeman G.J., Lubinski J., Axcrona K., Mikropoulos C., Mitra A.V., Moynihan C., Ni Raghallaigh H., Rennert G., Collier R., Offman J., Kote-Jarai Z., Eeles R.A., Bancroft E.K., Page E.C., Brook M.N., Thomas S., Taylor N., Pope J., McHugh J., Jones A.-B., Karlsson Q., Merson S., Ong K.R., Hoffman J., Huber C., Maehle L., Grindedal E.M., Stormorken A., Evans D.G., Rothwell J., Lalloo F., Brady A.F., Bartlett M., Snape K., Hanson H., James P., McKinley J., Mascarenhas L., Syngal S., Ukaegbu C., Side L., Thomas T., Barwell J., Teixeira M.R., Izatt L., Suri M., Macrae F.A., Poplawski N., Chen-Shtoyerman R., Ahmed M., Musgrave H., Nicolai N., Greenhalgh L., Brewer C., Pachter N., Spigelman A.D., Azzabi A., Helfand B.T., Halliday D., Buys S., Ramon Y Cajal T., Donaldson A., Cooney K.A., Harris M., McGrath J., Davidson R., Taylor A., Cooke P., Myhill K., Hogben M., Aaronson N.K., Ardern-Jones A., Bangma C.H., Castro E., Dearnaley D., Dias A., Dudderidge T., Eccles D.M., Green K., Eyfjord J., Falconer A., Foster C.S., Gronberg H., Hamdy F.C., Johannsson O., Khoo V., Lilja H., Lindeman G.J., Lubinski J., Axcrona K., Mikropoulos C., Mitra A.V., Moynihan C., Ni Raghallaigh H., Rennert G., Collier R., Offman J., Kote-Jarai Z., and Eeles R.A.
Abstract: BACKGROUND: Lynch syndrome is a rare familial cancer syndrome caused by pathogenic variants in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2, that cause predisposition to various cancers, predominantly colorectal and endometrial cancer. Data are emerging that pathogenic variants in mismatch repair genes increase the risk of early-onset aggressive prostate cancer. The IMPACT study is prospectively assessing prostate-specific antigen (PSA) screening in men with germline mismatch repair pathogenic variants. Here, we report the usefulness of PSA screening, prostate cancer incidence, and tumour characteristics after the first screening round in men with and without these germline pathogenic variants. METHOD(S): The IMPACT study is an international, prospective study. Men aged 40-69 years without a previous prostate cancer diagnosis and with a known germline pathogenic variant in the MLH1, MSH2, or MSH6 gene, and age-matched male controls who tested negative for a familial pathogenic variant in these genes were recruited from 34 genetic and urology clinics in eight countries, and underwent a baseline PSA screening. Men who had a PSA level higher than 3.0 ng/mL were offered a transrectal, ultrasound-guided, prostate biopsy and a histopathological analysis was done. All participants are undergoing a minimum of 5 years' annual screening. The primary endpoint was to determine the incidence, stage, and pathology of screening-detected prostate cancer in carriers of pathogenic variants compared with non-carrier controls. We used Fisher's exact test to compare the number of cases, cancer incidence, and positive predictive values of the PSA cutoff and biopsy between carriers and non-carriers and the differences between disease types (ie, cancer vs no cancer, clinically significant cancer vs no cancer). We assessed screening outcomes and tumour characteristics by pathogenic variant status. Here we present results from the first round of PSA screening in the IMPACT study. This
Published: 2022

3. Ambiguity in a masculine world: Being a BRCA1/2 mutation carrier and a man with prostate cancer

Author: Moynihan, C., Bancroft, E.K., Mitra, A., Ardern‐Jones, A., Castro, E., Page, E.C., and Eeles, R.A.
Published: 2017
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4. Polygenic hazard score is associated with prostate cancer in multi-ethnic populations.

Author: Huynh-Le M.-P., Fan C.C., Karunamuni R., Thompson W.K., Martinez M.E., Eeles R.A., Kote-Jarai Z., Muir K., Schleutker J., Pashayan N., Batra J., Gronberg H., Neal D.E., Donovan J.L., Hamdy F.C., Martin R.M., Nielsen S.F., Nordestgaard B.G., Wiklund F., Tangen C.M., Giles G.G., Wolk A., Albanes D., Travis R.C., Blot W.J., Zheng W., Sanderson M., Stanford J.L., Mucci L.A., West C.M.L., Kibel A.S., Cussenot O., Berndt S.I., Koutros S., Sorensen K.D., Cybulski C., Grindedal E.M., Menegaux F., Khaw K.-T., Park J.Y., Ingles S.A., Maier C., Hamilton R.J., Thibodeau S.N., Rosenstein B.S., Lu Y.-J., Watya S., Vega A., Kogevinas M., Penney K.L., Huff C., Teixeira M.R., Multigner L., Leach R.J., Cannon-Albright L., Brenner H., John E.M., Kaneva R., Logothetis C.J., Neuhausen S.L., De Ruyck K., Pandha H., Razack A., Newcomb L.F., Fowke J.H., Gamulin M., Usmani N., Claessens F., Gago-Dominguez M., Townsend P.A., Bush W.S., Roobol M.J., Parent M.-E., Hu J.J., Mills I.G., Andreassen O.A., Dale A.M., Seibert T.M., Huynh-Le M.-P., Fan C.C., Karunamuni R., Thompson W.K., Martinez M.E., Eeles R.A., Kote-Jarai Z., Muir K., Schleutker J., Pashayan N., Batra J., Gronberg H., Neal D.E., Donovan J.L., Hamdy F.C., Martin R.M., Nielsen S.F., Nordestgaard B.G., Wiklund F., Tangen C.M., Giles G.G., Wolk A., Albanes D., Travis R.C., Blot W.J., Zheng W., Sanderson M., Stanford J.L., Mucci L.A., West C.M.L., Kibel A.S., Cussenot O., Berndt S.I., Koutros S., Sorensen K.D., Cybulski C., Grindedal E.M., Menegaux F., Khaw K.-T., Park J.Y., Ingles S.A., Maier C., Hamilton R.J., Thibodeau S.N., Rosenstein B.S., Lu Y.-J., Watya S., Vega A., Kogevinas M., Penney K.L., Huff C., Teixeira M.R., Multigner L., Leach R.J., Cannon-Albright L., Brenner H., John E.M., Kaneva R., Logothetis C.J., Neuhausen S.L., De Ruyck K., Pandha H., Razack A., Newcomb L.F., Fowke J.H., Gamulin M., Usmani N., Claessens F., Gago-Dominguez M., Townsend P.A., Bush W.S., Roobol M.J., Parent M.-E., Hu J.J., Mills I.G., Andreassen O.A., Dale A.M., and Seibert T.M.
Abstract: Genetic models for cancer have been evaluated using almost exclusively European data, which could exacerbate health disparities. A polygenic hazard score (PHS1) is associated with age at prostate cancer diagnosis and improves screening accuracy in Europeans. Here, we evaluate performance of PHS2 (PHS1, adapted for OncoArray) in a multi-ethnic dataset of 80,491 men (49,916 cases, 30,575 controls). PHS2 is associated with age at diagnosis of any and aggressive (Gleason score >= 7, stage T3-T4, PSA >= 10 ng/mL, or nodal/distant metastasis) cancer and prostate-cancer-specific death. Associations with cancer are significant within European (n = 71,856), Asian (n = 2,382), and African (n = 6,253) genetic ancestries (p < 10-180). Comparing the 80th/20th PHS2 percentiles, hazard ratios for prostate cancer, aggressive cancer, and prostate-cancer-specific death are 5.32, 5.88, and 5.68, respectively. Within European, Asian, and African ancestries, hazard ratios for prostate cancer are: 5.54, 4.49, and 2.54, respectively. PHS2 risk-stratifies men for any, aggressive, and fatal prostate cancer in a multi-ethnic dataset.Copyright © 2021, The Author(s).
Published: 2021

5. Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers (Nature Communications, (2021), 12, 1, (1078), 10.1038/s41467-020-20496-3).

Author: Coignard J., Lush M., Beesley J., O'Mara T.A., Dennis J., Tyrer J.P., Barnes D.R., McGuffog L., Leslie G., Bolla M.K., Agata S., Ahearn T., Aittomaki K., Andrulis I.L., Anton-Culver H., Arndt V., Arnold N., Aronson K.J., Arun B.K., Augustinsson A., Azzollini J., Barrowdale D., Baynes C., Becher H., Bermisheva M., Bernstein L., Bialkowska K., Blomqvist C., Bojesen S.E., Bonanni B., Borg A., Brauch H., Brenner H., Burwinkel B., Buys S.S., Caldes T., Caligo M.A., Campa D., Carter B.D., Castelao J.E., Chang-Claude J., Chanock S.J., Chung W.K., Claes K.B.M., Clarke C.L., Bertrand O., Caputo S., Dupre A., Le Mentec M., Belotti M., Birot A.-M., Buecher B., Fourme E., Gauthier-Villars M., Golmard L., Houdayer C., Moncoutier V., de Pauw A., Saule C., Sinilnikova O., Mazoyer S., Damiola F., Barjhoux L., Verny-Pierre C., Leone M., Boutry-Kryza N., Calender A., Giraud S., Caron O., Guillaud-Bataille M., Bressac-de-Paillerets B., Bignon Y.-J., Uhrhammer N., Lasset C., Bonadona V., Berthet P., Vaur D., Castera L., Popovici C., Sobol H., Bourdon V., Noguchi T., Remenieras A., Nogues C., Coupier I., Pujol P., Dumont A., Revillion F., Adenis C., Muller D., Barouk-Simonet E., Bonnet F., Bubien V., Sevenet N., Longy M., Toulas C., Guimbaud R., Gladieff L., Feillel V., Leroux D., Dreyfus H., Rebischung C., Peysselon M., Coron F., Faivre L., Baurand A., Jacquot C., Bertolone G., Lizard S., Prieur F., Lebrun M., Kientz C., Ferrer S.F., Mari V., Venat-Bouvet L., Delnatte C., Bezieau S., Mortemousque I., Coulet F., Colas C., Soubrier F., Warcoin M., Sokolowska J., Bronner M., Collonge-Rame M.-A., Damette A., Gesta P., Lallaoui H., Chiesa J., Molina-Gomes D., Ingster O., Gregory H., Miedzybrodzka Z., Morrison P.J., Ong K.-R., Donaldson A., Rogers M.T., Kennedy M.J., Porteous M.E., Brewer C., Davidson R., Izatt L., Brady A., Barwell J., Adlard J., Foo C., Lalloo F., Side L.E., Eason J., Henderson A., Walker L., Eeles R.A., Cook J., Snape K., Eccles D., Murray A., McCann E., Conroy D.M., Czene K., Daly M.B., Devilee P., Diez O., Ding Y.C., Domchek S.M., Dork T., dos-Santos-Silva I., Dunning A.M., Dwek M., Eccles D.M., Eliassen A.H., Engel C., Eriksson M., Evans D.G., Fasching P.A., Flyger H., Fostira F., Friedman E., Fritschi L., Frost D., Gago-Dominguez M., Gapstur S.M., Garber J., Garcia-Barberan V., Garcia-Closas M., Garcia-Saenz J.A., Gaudet M.M., Gayther S.A., Gehrig A., Georgoulias V., Giles G.G., Godwin A.K., Goldberg M.S., Goldgar D.E., Gonzalez-Neira A., Greene M.H., Guenel P., Haeberle L., Hahnen E., Haiman C.A., Hakansson N., Hall P., Hamann U., Harrington P.A., Hart S.N., He W., Hogervorst F.B.L., Hollestelle A., Hopper J.L., Horcasitas D.J., Hulick P.J., Hunter D.J., Imyanitov E.N., Fox S., Campbell I., Spurdle A., Webb P., de Fazio A., Tassell M., Kirk J., Lindeman G., Price M., Southey M., Milne R., Deb S., Bowtell D., van der Hout A.H., van den Ouweland A.M.W., Mensenkamp A.R., van Deurzen C.H.M., Kets C.M., Seynaeve C., van Asperen C.J., Aalfs C.M., Gomez Garcia E.B., van Leeuwen F.E., de Bock G.H., Meijers-Heijboer H.E.J., Obdeijn I.M., Collee J.M., Gille J.J.P., Oosterwijk J.C., Wijnen J.T., van der Kolk L.E., Hooning M.J., Ausems M.G.E.M., Mourits M.J.E., Blok M.J., Rookus M.A., Adank M.A., van der Luijt R.B., van Cronenburg T.C.T.E.F., van der Pol C.C., Russell N.S., Siesling S., Overbeek L., Wijnands R., de Lange J.L., Clarke C., Graham D., Sachchithananthan M., Marsh D., Scott R., Baxter R., Yip D., Carpenter J., Davis A., Pathmanathan N., Simpson P., Jager A., Jakubowska A., James P.A., Jensen U.B., John E.M., Jones M.E., Kaaks R., Kapoor P.M., Karlan B.Y., Keeman R., Khusnutdinova E., Kiiski J.I., Ko Y.-D., Kosma V.-M., Kraft P., Kurian A.W., Laitman Y., Lambrechts D., Le Marchand L., Lester J., Lesueur F., Lindstrom T., Lopez-Fernandez A., Loud J.T., Luccarini C., Mannermaa A., Manoukian S., Margolin S., Martens J.W.M., Mebirouk N., Meindl A., Miller A., Milne R.L., Montagna M., Nathanson K.L., Neuhausen S.L., Nevanlinna H., Nielsen F.C., O'Brien K.M., Olopade O.I., Olson J.E., Olsson H., Osorio A., Ottini L., Park-Simon T.-W., Parsons M.T., Pedersen I.S., Peshkin B., Peterlongo P., Peto J., Pharoah P.D.P., Phillips K.-A., Polley E.C., Poppe B., Presneau N., Pujana M.A., Punie K., Radice P., Rantala J., Rashid M.U., Rennert G., Rennert H.S., Robson M., Romero A., Rossing M., Saloustros E., Sandler D.P., Santella R., Scheuner M.T., Schmidt M.K., Schmidt G., Scott C., Sharma P., Soucy P., Southey M.C., Spinelli J.J., Steinsnyder Z., Stone J., Stoppa-Lyonnet D., Swerdlow A., Tamimi R.M., Tapper W.J., Taylor J.A., Terry M.B., Teule A., Thull D.L., Tischkowitz M., Toland A.E., Torres D., Trainer A.H., Truong T., Tung N., Vachon C.M., Vega A., Vijai J., Wang Q., Wappenschmidt B., Weinberg C.R., Weitzel J.N., Wendt C., Wolk A., Yadav S., Yang X.R., Yannoukakos D., Zheng W., Ziogas A., Zorn K.K., Park S.K., Thomassen M., Offit K., Schmutzler R.K., Couch F.J., Simard J., Chenevix-Trench G., Easton D.F., Andrieu N., Antoniou A.C., Coignard J., Lush M., Beesley J., O'Mara T.A., Dennis J., Tyrer J.P., Barnes D.R., McGuffog L., Leslie G., Bolla M.K., Agata S., Ahearn T., Aittomaki K., Andrulis I.L., Anton-Culver H., Arndt V., Arnold N., Aronson K.J., Arun B.K., Augustinsson A., Azzollini J., Barrowdale D., Baynes C., Becher H., Bermisheva M., Bernstein L., Bialkowska K., Blomqvist C., Bojesen S.E., Bonanni B., Borg A., Brauch H., Brenner H., Burwinkel B., Buys S.S., Caldes T., Caligo M.A., Campa D., Carter B.D., Castelao J.E., Chang-Claude J., Chanock S.J., Chung W.K., Claes K.B.M., Clarke C.L., Bertrand O., Caputo S., Dupre A., Le Mentec M., Belotti M., Birot A.-M., Buecher B., Fourme E., Gauthier-Villars M., Golmard L., Houdayer C., Moncoutier V., de Pauw A., Saule C., Sinilnikova O., Mazoyer S., Damiola F., Barjhoux L., Verny-Pierre C., Leone M., Boutry-Kryza N., Calender A., Giraud S., Caron O., Guillaud-Bataille M., Bressac-de-Paillerets B., Bignon Y.-J., Uhrhammer N., Lasset C., Bonadona V., Berthet P., Vaur D., Castera L., Popovici C., Sobol H., Bourdon V., Noguchi T., Remenieras A., Nogues C., Coupier I., Pujol P., Dumont A., Revillion F., Adenis C., Muller D., Barouk-Simonet E., Bonnet F., Bubien V., Sevenet N., Longy M., Toulas C., Guimbaud R., Gladieff L., Feillel V., Leroux D., Dreyfus H., Rebischung C., Peysselon M., Coron F., Faivre L., Baurand A., Jacquot C., Bertolone G., Lizard S., Prieur F., Lebrun M., Kientz C., Ferrer S.F., Mari V., Venat-Bouvet L., Delnatte C., Bezieau S., Mortemousque I., Coulet F., Colas C., Soubrier F., Warcoin M., Sokolowska J., Bronner M., Collonge-Rame M.-A., Damette A., Gesta P., Lallaoui H., Chiesa J., Molina-Gomes D., Ingster O., Gregory H., Miedzybrodzka Z., Morrison P.J., Ong K.-R., Donaldson A., Rogers M.T., Kennedy M.J., Porteous M.E., Brewer C., Davidson R., Izatt L., Brady A., Barwell J., Adlard J., Foo C., Lalloo F., Side L.E., Eason J., Henderson A., Walker L., Eeles R.A., Cook J., Snape K., Eccles D., Murray A., McCann E., Conroy D.M., Czene K., Daly M.B., Devilee P., Diez O., Ding Y.C., Domchek S.M., Dork T., dos-Santos-Silva I., Dunning A.M., Dwek M., Eccles D.M., Eliassen A.H., Engel C., Eriksson M., Evans D.G., Fasching P.A., Flyger H., Fostira F., Friedman E., Fritschi L., Frost D., Gago-Dominguez M., Gapstur S.M., Garber J., Garcia-Barberan V., Garcia-Closas M., Garcia-Saenz J.A., Gaudet M.M., Gayther S.A., Gehrig A., Georgoulias V., Giles G.G., Godwin A.K., Goldberg M.S., Goldgar D.E., Gonzalez-Neira A., Greene M.H., Guenel P., Haeberle L., Hahnen E., Haiman C.A., Hakansson N., Hall P., Hamann U., Harrington P.A., Hart S.N., He W., Hogervorst F.B.L., Hollestelle A., Hopper J.L., Horcasitas D.J., Hulick P.J., Hunter D.J., Imyanitov E.N., Fox S., Campbell I., Spurdle A., Webb P., de Fazio A., Tassell M., Kirk J., Lindeman G., Price M., Southey M., Milne R., Deb S., Bowtell D., van der Hout A.H., van den Ouweland A.M.W., Mensenkamp A.R., van Deurzen C.H.M., Kets C.M., Seynaeve C., van Asperen C.J., Aalfs C.M., Gomez Garcia E.B., van Leeuwen F.E., de Bock G.H., Meijers-Heijboer H.E.J., Obdeijn I.M., Collee J.M., Gille J.J.P., Oosterwijk J.C., Wijnen J.T., van der Kolk L.E., Hooning M.J., Ausems M.G.E.M., Mourits M.J.E., Blok M.J., Rookus M.A., Adank M.A., van der Luijt R.B., van Cronenburg T.C.T.E.F., van der Pol C.C., Russell N.S., Siesling S., Overbeek L., Wijnands R., de Lange J.L., Clarke C., Graham D., Sachchithananthan M., Marsh D., Scott R., Baxter R., Yip D., Carpenter J., Davis A., Pathmanathan N., Simpson P., Jager A., Jakubowska A., James P.A., Jensen U.B., John E.M., Jones M.E., Kaaks R., Kapoor P.M., Karlan B.Y., Keeman R., Khusnutdinova E., Kiiski J.I., Ko Y.-D., Kosma V.-M., Kraft P., Kurian A.W., Laitman Y., Lambrechts D., Le Marchand L., Lester J., Lesueur F., Lindstrom T., Lopez-Fernandez A., Loud J.T., Luccarini C., Mannermaa A., Manoukian S., Margolin S., Martens J.W.M., Mebirouk N., Meindl A., Miller A., Milne R.L., Montagna M., Nathanson K.L., Neuhausen S.L., Nevanlinna H., Nielsen F.C., O'Brien K.M., Olopade O.I., Olson J.E., Olsson H., Osorio A., Ottini L., Park-Simon T.-W., Parsons M.T., Pedersen I.S., Peshkin B., Peterlongo P., Peto J., Pharoah P.D.P., Phillips K.-A., Polley E.C., Poppe B., Presneau N., Pujana M.A., Punie K., Radice P., Rantala J., Rashid M.U., Rennert G., Rennert H.S., Robson M., Romero A., Rossing M., Saloustros E., Sandler D.P., Santella R., Scheuner M.T., Schmidt M.K., Schmidt G., Scott C., Sharma P., Soucy P., Southey M.C., Spinelli J.J., Steinsnyder Z., Stone J., Stoppa-Lyonnet D., Swerdlow A., Tamimi R.M., Tapper W.J., Taylor J.A., Terry M.B., Teule A., Thull D.L., Tischkowitz M., Toland A.E., Torres D., Trainer A.H., Truong T., Tung N., Vachon C.M., Vega A., Vijai J., Wang Q., Wappenschmidt B., Weinberg C.R., Weitzel J.N., Wendt C., Wolk A., Yadav S., Yang X.R., Yannoukakos D., Zheng W., Ziogas A., Zorn K.K., Park S.K., Thomassen M., Offit K., Schmutzler R.K., Couch F.J., Simard J., Chenevix-Trench G., Easton D.F., Andrieu N., and Antoniou A.C.
Abstract: The original version of this Article contained an error in the spelling of the author Heiko Becher, which was incorrectly given as Heko Becher. This has now been corrected in both the PDF and HTML versions of the Article.Copyright © 2021, The Author(s).
Published: 2021

6. Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction (Nature Genetics, (2021), 53, 1, (65-75), 10.1038/s41588-020-00748-0).

Author: Lessel D., Townsend P.A., Aukim-Hastie C., Bush W.S., Aldrich M.C., Crawford D.C., Srivastava S., Cullen J.C., Petrovics G., Casey G., Roobol M.J., Jenster G., van Schaik R.H.N., Hu J.J., Sanderson M., Varma R., McKean-Cowdin R., Torres M., Mancuso N., Berndt S.I., Van Den Eeden S.K., Easton D.F., Chanock S.J., Cook M.B., Wiklund F., Nakagawa H., Witte J.S., Eeles R.A., Kote-Jarai Z., Haiman C.A., Conti D.V., Darst B.F., Moss L.C., Saunders E.J., Sheng X., Chou A., Schumacher F.R., Olama A.A.A., Benlloch S., Dadaev T., Brook M.N., Sahimi A., Hoffmann T.J., Takahashi A., Matsuda K., Momozawa Y., Fujita M., Muir K., Lophatananon A., Wan P., Le Marchand L., Wilkens L.R., Stevens V.L., Gapstur S.M., Carter B.D., Schleutker J., Tammela T.L.J., Sipeky C., Auvinen A., Giles G.G., Southey M.C., MacInnis R.J., Cybulski C., Wokolorczyk D., Lubinski J., Neal D.E., Donovan J.L., Hamdy F.C., Martin R.M., Nordestgaard B.G., Nielsen S.F., Weischer M., Bojesen S.E., Roder M.A., Iversen P., Batra J., Chambers S., Moya L., Horvath L., Clements J.A., Tilley W., Risbridger G.P., Gronberg H., Aly M., Szulkin R., Eklund M., Nordstrom T., Pashayan N., Dunning A.M., Ghoussaini M., Travis R.C., Key T.J., Riboli E., Park J.Y., Sellers T.A., Lin H.-Y., Albanes D., Weinstein S.J., Mucci L.A., Giovannucci E., Lindstrom S., Kraft P., Hunter D.J., Penney K.L., Turman C., Tangen C.M., Goodman P.J., Thompson I.M., Hamilton R.J., Fleshner N.E., Finelli A., Parent M.-E., Stanford J.L., Ostrander E.A., Geybels M.S., Koutros S., Freeman L.E.B., Stampfer M., Wolk A., Hakansson N., Andriole G.L., Hoover R.N., Machiela M.J., Sorensen K.D., Borre M., Blot W.J., Zheng W., Yeboah E.D., Mensah J.E., Lu Y.-J., Zhang H.-W., Feng N., Mao X., Wu Y., Zhao S.-C., Sun Z., Thibodeau S.N., McDonnell S.K., Schaid D.J., West C.M.L., Burnet N., Barnett G., Maier C., Schnoeller T., Luedeke M., Kibel A.S., Drake B.F., Cussenot O., Cancel-Tassin G., Menegaux F., Truong T., Koudou Y.A., John E.M., Grindedal E.M., Maehle L., Khaw K.-T., Ingles S.A., Stern M.C., Vega A., Gomez-Caamano A., Fachal L., Rosenstein B.S., Kerns S.L., Ostrer H., Teixeira M.R., Paulo P., Brandao A., Watya S., Lubwama A., Bensen J.T., Fontham E.T.H., Mohler J., Taylor J.A., Kogevinas M., Llorca J., Castano-Vinyals G., Cannon-Albright L., Teerlink C.C., Huff C.D., Strom S.S., Multigner L., Blanchet P., Brureau L., Kaneva R., Slavov C., Mitev V., Leach R.J., Weaver B., Brenner H., Cuk K., Holleczek B., Saum K.-U., Klein E.A., Hsing A.W., Kittles R.A., Murphy A.B., Logothetis C.J., Kim J., Neuhausen S.L., Steele L., Ding Y.C., Isaacs W.B., Nemesure B., Hennis A.J.M., Carpten J., Pandha H., Michael A., De Ruyck K., De Meerleer G., Ost P., Xu J., Razack A., Lim J., Teo S.-H., Newcomb L.F., Lin D.W., Fowke J.H., Neslund-Dudas C., Rybicki B.A., Gamulin M., Kulis T., Usmani N., Singhal S., Parliament M., Claessens F., Joniau S., Van den Broeck T., Gago-Dominguez M., Castelao J.E., Martinez M.E., Larkin S., Lessel D., Townsend P.A., Aukim-Hastie C., Bush W.S., Aldrich M.C., Crawford D.C., Srivastava S., Cullen J.C., Petrovics G., Casey G., Roobol M.J., Jenster G., van Schaik R.H.N., Hu J.J., Sanderson M., Varma R., McKean-Cowdin R., Torres M., Mancuso N., Berndt S.I., Van Den Eeden S.K., Easton D.F., Chanock S.J., Cook M.B., Wiklund F., Nakagawa H., Witte J.S., Eeles R.A., Kote-Jarai Z., Haiman C.A., Conti D.V., Darst B.F., Moss L.C., Saunders E.J., Sheng X., Chou A., Schumacher F.R., Olama A.A.A., Benlloch S., Dadaev T., Brook M.N., Sahimi A., Hoffmann T.J., Takahashi A., Matsuda K., Momozawa Y., Fujita M., Muir K., Lophatananon A., Wan P., Le Marchand L., Wilkens L.R., Stevens V.L., Gapstur S.M., Carter B.D., Schleutker J., Tammela T.L.J., Sipeky C., Auvinen A., Giles G.G., Southey M.C., MacInnis R.J., Cybulski C., Wokolorczyk D., Lubinski J., Neal D.E., Donovan J.L., Hamdy F.C., Martin R.M., Nordestgaard B.G., Nielsen S.F., Weischer M., Bojesen S.E., Roder M.A., Iversen P., Batra J., Chambers S., Moya L., Horvath L., Clements J.A., Tilley W., Risbridger G.P., Gronberg H., Aly M., Szulkin R., Eklund M., Nordstrom T., Pashayan N., Dunning A.M., Ghoussaini M., Travis R.C., Key T.J., Riboli E., Park J.Y., Sellers T.A., Lin H.-Y., Albanes D., Weinstein S.J., Mucci L.A., Giovannucci E., Lindstrom S., Kraft P., Hunter D.J., Penney K.L., Turman C., Tangen C.M., Goodman P.J., Thompson I.M., Hamilton R.J., Fleshner N.E., Finelli A., Parent M.-E., Stanford J.L., Ostrander E.A., Geybels M.S., Koutros S., Freeman L.E.B., Stampfer M., Wolk A., Hakansson N., Andriole G.L., Hoover R.N., Machiela M.J., Sorensen K.D., Borre M., Blot W.J., Zheng W., Yeboah E.D., Mensah J.E., Lu Y.-J., Zhang H.-W., Feng N., Mao X., Wu Y., Zhao S.-C., Sun Z., Thibodeau S.N., McDonnell S.K., Schaid D.J., West C.M.L., Burnet N., Barnett G., Maier C., Schnoeller T., Luedeke M., Kibel A.S., Drake B.F., Cussenot O., Cancel-Tassin G., Menegaux F., Truong T., Koudou Y.A., John E.M., Grindedal E.M., Maehle L., Khaw K.-T., Ingles S.A., Stern M.C., Vega A., Gomez-Caamano A., Fachal L., Rosenstein B.S., Kerns S.L., Ostrer H., Teixeira M.R., Paulo P., Brandao A., Watya S., Lubwama A., Bensen J.T., Fontham E.T.H., Mohler J., Taylor J.A., Kogevinas M., Llorca J., Castano-Vinyals G., Cannon-Albright L., Teerlink C.C., Huff C.D., Strom S.S., Multigner L., Blanchet P., Brureau L., Kaneva R., Slavov C., Mitev V., Leach R.J., Weaver B., Brenner H., Cuk K., Holleczek B., Saum K.-U., Klein E.A., Hsing A.W., Kittles R.A., Murphy A.B., Logothetis C.J., Kim J., Neuhausen S.L., Steele L., Ding Y.C., Isaacs W.B., Nemesure B., Hennis A.J.M., Carpten J., Pandha H., Michael A., De Ruyck K., De Meerleer G., Ost P., Xu J., Razack A., Lim J., Teo S.-H., Newcomb L.F., Lin D.W., Fowke J.H., Neslund-Dudas C., Rybicki B.A., Gamulin M., Kulis T., Usmani N., Singhal S., Parliament M., Claessens F., Joniau S., Van den Broeck T., Gago-Dominguez M., Castelao J.E., Martinez M.E., and Larkin S.
Abstract: In the version of this article originally published, the names of the equally contributing authors and jointly supervising authors were switched. The correct affiliations are: "These authors contributed equally: David V. Conti, Burcu F. Darst. These authors jointly supervised this work: David V. Conti, Rosalind A. Eeles, Zsofia Kote-Jarai, Christopher A. Haiman." The error has been corrected in the HTML and PDF versions of the article.Copyright © 2021, The Author(s), under exclusive licence to Springer Nature America, Inc.
Published: 2021

7. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.

Author: Radice P., Romero A., Rossing M., Saloustros E., Sandler D.P., Santella R., Scheuner M.T., Schmidt M.K., Schmidt G., Scott C., Sharma P., Soucy P., Southey M.C., Spinelli J.J., Steinsnyder Z., Stone J., Stoppa-Lyonnet D., Swerdlow A., Tamimi R.M., Tapper W.J., Taylor J.A., Terry M.B., Teule A., Thull D.L., Tischkowitz M., Toland A.E., Torres D., Trainer A.H., Truong T., Tung N., Vachon C.M., Vega A., Vijai J., Wang Q., Wappenschmidt B., Weinberg C.R., Weitzel J.N., Wendt C., Wolk A., Yadav S., Yang X.R., Yannoukakos D., Zheng W., Ziogas A., Zorn K.K., Park S.K., Thomassen M., Offit K., Schmutzler R.K., Couch F.J., Simard J., Chenevix-Trench G., Easton D.F., Andrieu N., Antoniou A.C., Coignard J., Lush M., Beesley J., O'Mara T.A., Dennis J., Tyrer J.P., Barnes D.R., McGuffog L., Leslie G., Bolla M.K., Agata S., Ahearn T., Aittomaki K., Andrulis I.L., Anton-Culver H., Arndt V., Arnold N., Aronson K.J., Arun B.K., Augustinsson A., Azzollini J., Barrowdale D., Baynes C., Becher H., Bermisheva M., Bernstein L., Bialkowska K., Blomqvist C., Bojesen S.E., Bonanni B., Borg A., Brauch H., Brenner H., Burwinkel B., Buys S.S., Caldes T., Caligo M.A., Campa D., Carter B.D., Castelao J.E., Chang-Claude J., Chanock S.J., Chung W.K., Claes K.B.M., Clarke C.L., Bertrand O., Caputo S., Dupre A., Le Mentec M., Belotti M., Birot A.-M., Buecher B., Fourme E., Gauthier-Villars M., Golmard L., Houdayer C., Moncoutier V., de Pauw A., Saule C., Sinilnikova O., Mazoyer S., Damiola F., Barjhoux L., Verny-Pierre C., Leone M., Boutry-Kryza N., Calender A., Giraud S., Caron O., Guillaud-Bataille M., Bressac-de-Paillerets B., Bignon Y.-J., Uhrhammer N., Lasset C., Bonadona V., Berthet P., Vaur D., Castera L., Popovici C., Sobol H., Bourdon V., Noguchi T., Remenieras A., Nogues C., Coupier I., Pujol P., Dumont A., Revillion F., Adenis C., Muller D., Barouk-Simonet E., Bonnet F., Bubien V., Sevenet N., Longy M., Toulas C., Guimbaud R., Gladieff L., Feillel V., Leroux D., Dreyfus H., Rebischung C., Peysselon M., Coron F., Faivre L., Baurand A., Jacquot C., Bertolone G., Lizard S., Prieur F., Lebrun M., Kientz C., Ferrer S.F., Mari V., Venat-Bouvet L., Delnatte C., Bezieau S., Mortemousque I., Coulet F., Colas C., Soubrier F., Warcoin M., Sokolowska J., Bronner M., Collonge-Rame M.-A., Damette A., Gesta P., Lallaoui H., Chiesa J., Molina-Gomes D., Ingster O., Gregory H., Miedzybrodzka Z., Morrison P.J., Ong K.-R., Donaldson A., Rogers M.T., Kennedy M.J., Porteous M.E., Brewer C., Davidson R., Izatt L., Brady A., Barwell J., Adlard J., Foo C., Lalloo F., Side L.E., Eason J., Henderson A., Walker L., Eeles R.A., Cook J., Snape K., Eccles D., Murray A., McCann E., Conroy D.M., Czene K., Daly M.B., Devilee P., Diez O., Ding Y.C., Domchek S.M., Dork T., dos-Santos-Silva I., Dunning A.M., Dwek M., Eccles D.M., Eliassen A.H., Engel C., Eriksson M., Evans D.G., Fasching P.A., Flyger H., Fostira F., Friedman E., Fritschi L., Frost D., Gago-Dominguez M., Gapstur S.M., Garber J., Garcia-Barberan V., Garcia-Closas M., Garcia-Saenz J.A., Gaudet M.M., Gayther S.A., Gehrig A., Georgoulias V., Giles G.G., Godwin A.K., Goldberg M.S., Goldgar D.E., Gonzalez-Neira A., Greene M.H., Guenel P., Haeberle L., Hahnen E., Haiman C.A., Hakansson N., Hall P., Hamann U., Harrington P.A., Hart S.N., He W., Hogervorst F.B.L., Hollestelle A., Hopper J.L., Horcasitas D.J., Hulick P.J., Hunter D.J., Imyanitov E.N., Fox S., Campbell I., Spurdle A., Webb P., de Fazio A., Tassell M., Kirk J., Lindeman G., Price M., Southey M., Milne R.L., Deb S., Bowtell D., van der Hout A.H., van den Ouweland A.M.W., Mensenkamp A.R., van Deurzen C.H.M., Kets C.M., Seynaeve C., van Asperen C.J., Aalfs C.M., Gomez Garcia E.B., van Leeuwen F.E., de Bock G.H., Meijers-Heijboer H.E.J., Obdeijn I.M., Collee J.M., Gille J.J.P., Oosterwijk J.C., Wijnen J.T., van der Kolk L.E., Hooning M.J., Ausems M.G.E.M., Mourits M.J.E., Blok M.J., Rookus M.A., Adank M.A., van der Luijt R.B., van Cronenburg T.C.T.E.F., van der Pol C.C., Russell N.S., Siesling S., Overbeek L., Wijnands R., de Lange J.L., Clarke C., Graham D., Sachchithananthan M., Marsh D., Scott R., Baxter R., Yip D., Carpenter J., Davis A., Pathmanathan N., Simpson P., Jager A., Jakubowska A., James P.A., Jensen U.B., John E.M., Jones M.E., Kaaks R., Kapoor P.M., Karlan B.Y., Keeman R., Khusnutdinova E., Kiiski J.I., Ko Y.-D., Kosma V.-M., Kraft P., Kurian A.W., Laitman Y., Lambrechts D., Le Marchand L., Lester J., Lesueur F., Lindstrom T., Lopez-Fernandez A., Loud J.T., Luccarini C., Mannermaa A., Manoukian S., Margolin S., Martens J.W.M., Mebirouk N., Meindl A., Miller A., Montagna M., Nathanson K.L., Neuhausen S.L., Nevanlinna H., Nielsen F.C., O'Brien K.M., Olopade O.I., Olson J.E., Olsson H., Osorio A., Ottini L., Park-Simon T.-W., Parsons M.T., Pedersen I.S., Peshkin B., Peterlongo P., Peto J., Pharoah P.D.P., Phillips K.-A., Polley E.C., Poppe B., Presneau N., Pujana M.A., Punie K., Rantala J., Rashid M.U., Rennert G., Rennert H.S., Robson M., Radice P., Romero A., Rossing M., Saloustros E., Sandler D.P., Santella R., Scheuner M.T., Schmidt M.K., Schmidt G., Scott C., Sharma P., Soucy P., Southey M.C., Spinelli J.J., Steinsnyder Z., Stone J., Stoppa-Lyonnet D., Swerdlow A., Tamimi R.M., Tapper W.J., Taylor J.A., Terry M.B., Teule A., Thull D.L., Tischkowitz M., Toland A.E., Torres D., Trainer A.H., Truong T., Tung N., Vachon C.M., Vega A., Vijai J., Wang Q., Wappenschmidt B., Weinberg C.R., Weitzel J.N., Wendt C., Wolk A., Yadav S., Yang X.R., Yannoukakos D., Zheng W., Ziogas A., Zorn K.K., Park S.K., Thomassen M., Offit K., Schmutzler R.K., Couch F.J., Simard J., Chenevix-Trench G., Easton D.F., Andrieu N., Antoniou A.C., Coignard J., Lush M., Beesley J., O'Mara T.A., Dennis J., Tyrer J.P., Barnes D.R., McGuffog L., Leslie G., Bolla M.K., Agata S., Ahearn T., Aittomaki K., Andrulis I.L., Anton-Culver H., Arndt V., Arnold N., Aronson K.J., Arun B.K., Augustinsson A., Azzollini J., Barrowdale D., Baynes C., Becher H., Bermisheva M., Bernstein L., Bialkowska K., Blomqvist C., Bojesen S.E., Bonanni B., Borg A., Brauch H., Brenner H., Burwinkel B., Buys S.S., Caldes T., Caligo M.A., Campa D., Carter B.D., Castelao J.E., Chang-Claude J., Chanock S.J., Chung W.K., Claes K.B.M., Clarke C.L., Bertrand O., Caputo S., Dupre A., Le Mentec M., Belotti M., Birot A.-M., Buecher B., Fourme E., Gauthier-Villars M., Golmard L., Houdayer C., Moncoutier V., de Pauw A., Saule C., Sinilnikova O., Mazoyer S., Damiola F., Barjhoux L., Verny-Pierre C., Leone M., Boutry-Kryza N., Calender A., Giraud S., Caron O., Guillaud-Bataille M., Bressac-de-Paillerets B., Bignon Y.-J., Uhrhammer N., Lasset C., Bonadona V., Berthet P., Vaur D., Castera L., Popovici C., Sobol H., Bourdon V., Noguchi T., Remenieras A., Nogues C., Coupier I., Pujol P., Dumont A., Revillion F., Adenis C., Muller D., Barouk-Simonet E., Bonnet F., Bubien V., Sevenet N., Longy M., Toulas C., Guimbaud R., Gladieff L., Feillel V., Leroux D., Dreyfus H., Rebischung C., Peysselon M., Coron F., Faivre L., Baurand A., Jacquot C., Bertolone G., Lizard S., Prieur F., Lebrun M., Kientz C., Ferrer S.F., Mari V., Venat-Bouvet L., Delnatte C., Bezieau S., Mortemousque I., Coulet F., Colas C., Soubrier F., Warcoin M., Sokolowska J., Bronner M., Collonge-Rame M.-A., Damette A., Gesta P., Lallaoui H., Chiesa J., Molina-Gomes D., Ingster O., Gregory H., Miedzybrodzka Z., Morrison P.J., Ong K.-R., Donaldson A., Rogers M.T., Kennedy M.J., Porteous M.E., Brewer C., Davidson R., Izatt L., Brady A., Barwell J., Adlard J., Foo C., Lalloo F., Side L.E., Eason J., Henderson A., Walker L., Eeles R.A., Cook J., Snape K., Eccles D., Murray A., McCann E., Conroy D.M., Czene K., Daly M.B., Devilee P., Diez O., Ding Y.C., Domchek S.M., Dork T., dos-Santos-Silva I., Dunning A.M., Dwek M., Eccles D.M., Eliassen A.H., Engel C., Eriksson M., Evans D.G., Fasching P.A., Flyger H., Fostira F., Friedman E., Fritschi L., Frost D., Gago-Dominguez M., Gapstur S.M., Garber J., Garcia-Barberan V., Garcia-Closas M., Garcia-Saenz J.A., Gaudet M.M., Gayther S.A., Gehrig A., Georgoulias V., Giles G.G., Godwin A.K., Goldberg M.S., Goldgar D.E., Gonzalez-Neira A., Greene M.H., Guenel P., Haeberle L., Hahnen E., Haiman C.A., Hakansson N., Hall P., Hamann U., Harrington P.A., Hart S.N., He W., Hogervorst F.B.L., Hollestelle A., Hopper J.L., Horcasitas D.J., Hulick P.J., Hunter D.J., Imyanitov E.N., Fox S., Campbell I., Spurdle A., Webb P., de Fazio A., Tassell M., Kirk J., Lindeman G., Price M., Southey M., Milne R.L., Deb S., Bowtell D., van der Hout A.H., van den Ouweland A.M.W., Mensenkamp A.R., van Deurzen C.H.M., Kets C.M., Seynaeve C., van Asperen C.J., Aalfs C.M., Gomez Garcia E.B., van Leeuwen F.E., de Bock G.H., Meijers-Heijboer H.E.J., Obdeijn I.M., Collee J.M., Gille J.J.P., Oosterwijk J.C., Wijnen J.T., van der Kolk L.E., Hooning M.J., Ausems M.G.E.M., Mourits M.J.E., Blok M.J., Rookus M.A., Adank M.A., van der Luijt R.B., van Cronenburg T.C.T.E.F., van der Pol C.C., Russell N.S., Siesling S., Overbeek L., Wijnands R., de Lange J.L., Clarke C., Graham D., Sachchithananthan M., Marsh D., Scott R., Baxter R., Yip D., Carpenter J., Davis A., Pathmanathan N., Simpson P., Jager A., Jakubowska A., James P.A., Jensen U.B., John E.M., Jones M.E., Kaaks R., Kapoor P.M., Karlan B.Y., Keeman R., Khusnutdinova E., Kiiski J.I., Ko Y.-D., Kosma V.-M., Kraft P., Kurian A.W., Laitman Y., Lambrechts D., Le Marchand L., Lester J., Lesueur F., Lindstrom T., Lopez-Fernandez A., Loud J.T., Luccarini C., Mannermaa A., Manoukian S., Margolin S., Martens J.W.M., Mebirouk N., Meindl A., Miller A., Montagna M., Nathanson K.L., Neuhausen S.L., Nevanlinna H., Nielsen F.C., O'Brien K.M., Olopade O.I., Olson J.E., Olsson H., Osorio A., Ottini L., Park-Simon T.-W., Parsons M.T., Pedersen I.S., Peshkin B., Peterlongo P., Peto J., Pharoah P.D.P., Phillips K.-A., Polley E.C., Poppe B., Presneau N., Pujana M.A., Punie K., Rantala J., Rashid M.U., Rennert G., Rennert H.S., and Robson M.
Abstract: Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10-8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers.Copyright © 2021, The Author(s).
Published: 2021

8. Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.

Author: Karlsson Q., Brook M.N., Dadaev T., Wakerell S., Saunders E.J., Muir K., Neal D.E., Giles G.G., MacInnis R.J., Thibodeau S.N., McDonnell S.K., Cannon-Albright L., Teixeira M.R., Paulo P., Cardoso M., Huff C., Li D., Yao Y., Scheet P., Permuth J.B., Stanford J.L., Dai J.Y., Ostrander E.A., Cussenot O., Cancel-Tassin G., Hoegel J., Herkommer K., Schleutker J., Tammela T.L.J., Rathinakannan V., Sipeky C., Wiklund F., Gronberg H., Aly M., Isaacs W.B., Dickinson J.L., FitzGerald L.M., Chua M.L.K., Nguyen-Dumont T., Schaid D.J., Southey M.C., Eeles R.A., Kote-Jarai Z., Karlsson Q., Brook M.N., Dadaev T., Wakerell S., Saunders E.J., Muir K., Neal D.E., Giles G.G., MacInnis R.J., Thibodeau S.N., McDonnell S.K., Cannon-Albright L., Teixeira M.R., Paulo P., Cardoso M., Huff C., Li D., Yao Y., Scheet P., Permuth J.B., Stanford J.L., Dai J.Y., Ostrander E.A., Cussenot O., Cancel-Tassin G., Hoegel J., Herkommer K., Schleutker J., Tammela T.L.J., Rathinakannan V., Sipeky C., Wiklund F., Gronberg H., Aly M., Isaacs W.B., Dickinson J.L., FitzGerald L.M., Chua M.L.K., Nguyen-Dumont T., Schaid D.J., Southey M.C., Eeles R.A., and Kote-Jarai Z.
Abstract: Background: Germline ATM mutations are suggested to contribute to predisposition to prostate cancer (PrCa). Previous studies have had inadequate power to estimate variant effect sizes. Objective(s): To precisely estimate the contribution of germline ATM mutations to PrCa risk. Design, setting, and participants: We analysed next-generation sequencing data from 13 PRACTICAL study groups comprising 5560 cases and 3353 controls of European ancestry. Outcome measurements and statistical analysis: Variant Call Format files were harmonised, annotated for rare ATM variants, and classified as tier 1 (likely pathogenic) or tier 2 (potentially deleterious). Associations with overall PrCa risk and clinical subtypes were estimated. Results and limitations: PrCa risk was higher in carriers of a tier 1 germline ATM variant, with an overall odds ratio (OR) of 4.4 (95% confidence interval [CI]: 2.0-9.5). There was also evidence that PrCa cases with younger age at diagnosis (<65 yr) had elevated tier 1 variant frequencies (pdifference = 0.04). Tier 2 variants were also associated with PrCa risk, with an OR of 1.4 (95% CI: 1.1-1.7). Conclusion(s): Carriers of pathogenic ATM variants have an elevated risk of developing PrCa and are at an increased risk for earlier-onset disease presentation. These results provide information for counselling of men and their families. Patient Summary: In this study, we estimated that men who inherit a likely pathogenic mutation in the ATM gene had an approximately a fourfold risk of developing prostate cancer. In addition, they are likely to develop the disease earlier.Copyright © 2020 The Authors
Published: 2021

9. The CHEK2 variant C.349A>G is associated with prostate cancer risk and carriers share a common ancestor.

Author: Neuhausen S.L., Brandao A., Paulo P., Maia S., Pinheiro M., Peixoto A., Cardoso M., Silva M.P., Santos C., Eeles R.A., John E.M., Kaneva R., Logothetis C.J., De Ruyck K., Razack A., Newcomb L.F., Lessel D., Usmani N., Claessens F., Gago-Dominguez M., Townsend P.A., Roobol M.J., Teixeira M.R., Kote-Jarai Z., Muir K., Schleutker J., Wang Y., Pashayan N., Batra J., Gronberg H., Neal D.E., Nordestgaard B.G., Tangen C.M., Southey M.C., Wolk A., Albanes D., Haiman C.A., Travis R.C., Stanford J.L., Mucci L.A., West C.M.L., Nielsen S.F., Kibel A.S., Cussenot O., Berndt S.I., Koutros S., Sorensen K.D., Cybulski C., Grindedal E.M., Park J.Y., Ingles S.A., Maier C., Hamilton R.J., Rosenstein B.S., Vega A., Kogevinas M., Wiklund F., Penney K.L., Brenner H., Neuhausen S.L., Brandao A., Paulo P., Maia S., Pinheiro M., Peixoto A., Cardoso M., Silva M.P., Santos C., Eeles R.A., John E.M., Kaneva R., Logothetis C.J., De Ruyck K., Razack A., Newcomb L.F., Lessel D., Usmani N., Claessens F., Gago-Dominguez M., Townsend P.A., Roobol M.J., Teixeira M.R., Kote-Jarai Z., Muir K., Schleutker J., Wang Y., Pashayan N., Batra J., Gronberg H., Neal D.E., Nordestgaard B.G., Tangen C.M., Southey M.C., Wolk A., Albanes D., Haiman C.A., Travis R.C., Stanford J.L., Mucci L.A., West C.M.L., Nielsen S.F., Kibel A.S., Cussenot O., Berndt S.I., Koutros S., Sorensen K.D., Cybulski C., Grindedal E.M., Park J.Y., Ingles S.A., Maier C., Hamilton R.J., Rosenstein B.S., Vega A., Kogevinas M., Wiklund F., Penney K.L., and Brenner H.
Abstract: The identification of recurrent founder variants in cancer predisposing genes may have important implications for implementing cost-effective targeted genetic screening strategies. In this study, we evaluated the prevalence and relative risk of the CHEK2 recurrent variant c.349A>G in a series of 462 Portuguese patients with early-onset and/or familial/hereditary prostate cancer (PrCa), as well as in the large multicentre PRACTICAL case-control study comprising 55,162 prostate cancer cases and 36,147 controls. Additionally, we investigated the potential shared ancestry of the carriers by performing identity-by-descent, haplotype and age estimation analyses using high-density SNP data from 70 variant carriers belonging to 11 different populations included in the PRACTICAL consortium. The CHEK2 missense variant c.349A>G was found significantly associated with an increased risk for PrCa (OR 1.9; 95% CI: 1.1-3.2). A shared haplotype flanking the variant in all carriers was identified, strongly suggesting a common founder of European origin. Additionally, using two independent statistical algorithms, implemented by DMLE+2.3 and ESTIAGE, we were able to estimate the age of the variant between 2300 and 3125 years. By extending the haplotype analysis to 14 additional carrier families, a shared core haplotype was revealed among all carriers matching the conserved region previously identified in the high-density SNP analysis. These findings are consistent with CHEK2 c.349A>G being a founder variant associated with increased PrCa risk, suggesting its potential usefulness for cost-effective targeted genetic screening in PrCa families.Copyright © 2020 by the authors. Licensee MDPI, Basel, Switzerland.
Published: 2021

10. First international workshop of the ATM and cancer risk group (4-5 December 2019).

Author: Lesueur F., Easton D.F., Renault A.-L., Tavtigian S.V., Bernstein J.L., Kote-Jarai Z., Eeles R.A., Plaseska-Karanfia D., Feliubadalo L., Moles-Fernandez A., Santamarina-Pena M., Sanchez A.T., Lopez-Novo A., Porras L.-M., Blanco A., Capella G., de la Hoya M., Molina I.J., Osorio A., Pineda M., Rueda D., de la Cruz X., Diez O., Ruiz-Ponte C., Gutierrez-Enriquez S., Vega A., Lazaro C., Arun B., Herold N., Versmold B., Schmutzler R.K., Nguyen-Dumont T., Southey M.C., Dorling L., Dunning A.M., Ghiorzo P., Dalmasso B.S., Cavaciuti E., Le Gal D., Roberts N.J., Dominguez-Valentin M., Rookus M., Taylor A.M.R., Goldstein A.M., Goldgar D.E., Couch F., Kraft P., Weitzel J., Nathanson K., Domchek S., LaDuca H., Stoppa-Lyonnet D., Andrieu N., Lesueur F., Easton D.F., Renault A.-L., Tavtigian S.V., Bernstein J.L., Kote-Jarai Z., Eeles R.A., Plaseska-Karanfia D., Feliubadalo L., Moles-Fernandez A., Santamarina-Pena M., Sanchez A.T., Lopez-Novo A., Porras L.-M., Blanco A., Capella G., de la Hoya M., Molina I.J., Osorio A., Pineda M., Rueda D., de la Cruz X., Diez O., Ruiz-Ponte C., Gutierrez-Enriquez S., Vega A., Lazaro C., Arun B., Herold N., Versmold B., Schmutzler R.K., Nguyen-Dumont T., Southey M.C., Dorling L., Dunning A.M., Ghiorzo P., Dalmasso B.S., Cavaciuti E., Le Gal D., Roberts N.J., Dominguez-Valentin M., Rookus M., Taylor A.M.R., Goldstein A.M., Goldgar D.E., Couch F., Kraft P., Weitzel J., Nathanson K., Domchek S., LaDuca H., Stoppa-Lyonnet D., and Andrieu N.
Abstract: The first International Workshop of the ATM and Cancer Risk group focusing on the role of Ataxia-Telangiectasia Mutated (ATM) gene in cancer was held on December 4 and 5, 2019 at Institut Curie in Paris, France. It was motivated by the fact that germline ATM pathogenic variants have been found to be associated with different cancer types. However, due to the lack of precise age-, sex-, and site-specific risk estimates, no consensus on management guidelines for variant carriers exists, and the clinical utility of ATM variant testing is uncertain. The meeting brought together epidemiologists, geneticists, biologists and clinicians to review current knowledge and on-going challenges related to ATM and cancer risk. This report summarizes the meeting sessions content that covered the latest results in family-based and population-based studies, the importance of accurate variant classification, the effect of radiation exposures for ATM variant carriers, and the characteristics of ATM-deficient tumors. The report concludes that ATM variant carriers outside of the context of Ataxia-Telangiectasia may benefit from effective cancer risk management and therapeutic strategies and that efforts to set up large-scale studies in the international framework to achieve this goal are necessary.Copyright © 2021, The Author(s), under exclusive licence to Springer Nature B.V.
Published: 2021

11. Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction.

Author: Thompson I.M., Muir K., Lophatananon A., Wan P., Stern M.C., Vega A., Gomez-Caamano A., Fachal L., Rosenstein B.S., Kerns S.L., Ostrer H., Teixeira M.R., Paulo P., Brandao A., Watya S., Lubwama A., Bensen J.T., Fontham E.T.H., Mohler J., Taylor J.A., Kogevinas M., Llorca J., Castano-Vinyals G., Cannon-Albright L., Teerlink C.C., Huff C.D., Strom S.S., Multigner L., Blanchet P., Brureau L., Kaneva R., Slavov C., Mitev V., Leach R.J., Weaver B., Brenner H., Cuk K., Holleczek B., Saum K.-U., Klein E.A., Hsing A.W., Kittles R.A., Murphy A.B., Logothetis C.J., Kim J., Neuhausen S.L., Steele L., Ding Y.C., Isaacs W.B., Nemesure B., Hennis A.J.M., Carpten J., Pandha H., Michael A., De Ruyck K., De Meerleer G., Ost P., Xu J., Razack A., Lim J., Teo S.-H., Newcomb L.F., Lin D.W., Fowke J.H., Neslund-Dudas C., Rybicki B.A., Gamulin M., Lessel D., Kulis T., Usmani N., Singhal S., Parliament M., Claessens F., Joniau S., Van den Broeck T., Gago-Dominguez M., Castelao J.E., Martinez M.E., Larkin S., Townsend P.A., Aukim-Hastie C., Bush W.S., Aldrich M.C., Crawford D.C., Srivastava S., Cullen J.C., Petrovics G., Casey G., Roobol M.J., Jenster G., van Schaik R.H.N., Hu J.J., Sanderson M., Varma R., McKean-Cowdin R., Torres M., Mancuso N., Berndt S.I., Van Den Eeden S.K., Easton D.F., Chanock S.J., Cook M.B., Wiklund F., Nakagawa H., Witte J.S., Eeles R.A., Kote-Jarai Z., Haiman C.A., Conti D.V., Darst B.F., Moss L.C., Saunders E.J., Sheng X., Chou A., Schumacher F.R., Olama A.A.A., Benlloch S., Dadaev T., Brook M.N., Sahimi A., Hoffmann T.J., Takahashi A., Matsuda K., Momozawa Y., Le Marchand L., Wilkens L.R., Stevens V.L., Gapstur S.M., Carter B.D., Schleutker J., Tammela T.L.J., Sipeky C., Auvinen A., Giles G.G., Southey M.C., MacInnis R.J., Cybulski C., Wokolorczyk D., Lubinski J., Neal D.E., Donovan J.L., Hamdy F.C., Martin R.M., Nordestgaard B.G., Nielsen S.F., Weischer M., Bojesen S.E., Roder M.A., Iversen P., Batra J., Chambers S., Moya L., Horvath L., Clements J.A., Tilley W., Risbridger G.P., Gronberg H., Aly M., Szulkin R., Eklund M., Nordstrom T., Pashayan N., Dunning A.M., Ghoussaini M., Travis R.C., Key T.J., Riboli E., Park J.Y., Sellers T.A., Lin H.-Y., Albanes D., Weinstein S.J., Mucci L.A., Giovannucci E., Lindstrom S., Kraft P., Hunter D.J., Penney K.L., Turman C., Tangen C.M., Goodman P.J., Fujita M., Hamilton R.J., Fleshner N.E., Finelli A., Parent M.-E., Stanford J.L., Ostrander E.A., Geybels M.S., Koutros S., Freeman L.E.B., Stampfer M., Wolk A., Hakansson N., Andriole G.L., Hoover R.N., Machiela M.J., Sorensen K.D., Borre M., Blot W.J., Zheng W., Yeboah E.D., Mensah J.E., Lu Y.-J., Zhang H.-W., Feng N., Mao X., Wu Y., Zhao S.-C., Sun Z., Thibodeau S.N., McDonnell S.K., Schaid D.J., West C.M.L., Burnet N., Barnett G., Maier C., Schnoeller T., Luedeke M., Kibel A.S., Drake B.F., Cussenot O., Cancel-Tassin G., Menegaux F., Truong T., Koudou Y.A., John E.M., Grindedal E.M., Maehle L., Khaw K.-T., Ingles S.A., Thompson I.M., Muir K., Lophatananon A., Wan P., Stern M.C., Vega A., Gomez-Caamano A., Fachal L., Rosenstein B.S., Kerns S.L., Ostrer H., Teixeira M.R., Paulo P., Brandao A., Watya S., Lubwama A., Bensen J.T., Fontham E.T.H., Mohler J., Taylor J.A., Kogevinas M., Llorca J., Castano-Vinyals G., Cannon-Albright L., Teerlink C.C., Huff C.D., Strom S.S., Multigner L., Blanchet P., Brureau L., Kaneva R., Slavov C., Mitev V., Leach R.J., Weaver B., Brenner H., Cuk K., Holleczek B., Saum K.-U., Klein E.A., Hsing A.W., Kittles R.A., Murphy A.B., Logothetis C.J., Kim J., Neuhausen S.L., Steele L., Ding Y.C., Isaacs W.B., Nemesure B., Hennis A.J.M., Carpten J., Pandha H., Michael A., De Ruyck K., De Meerleer G., Ost P., Xu J., Razack A., Lim J., Teo S.-H., Newcomb L.F., Lin D.W., Fowke J.H., Neslund-Dudas C., Rybicki B.A., Gamulin M., Lessel D., Kulis T., Usmani N., Singhal S., Parliament M., Claessens F., Joniau S., Van den Broeck T., Gago-Dominguez M., Castelao J.E., Martinez M.E., Larkin S., Townsend P.A., Aukim-Hastie C., Bush W.S., Aldrich M.C., Crawford D.C., Srivastava S., Cullen J.C., Petrovics G., Casey G., Roobol M.J., Jenster G., van Schaik R.H.N., Hu J.J., Sanderson M., Varma R., McKean-Cowdin R., Torres M., Mancuso N., Berndt S.I., Van Den Eeden S.K., Easton D.F., Chanock S.J., Cook M.B., Wiklund F., Nakagawa H., Witte J.S., Eeles R.A., Kote-Jarai Z., Haiman C.A., Conti D.V., Darst B.F., Moss L.C., Saunders E.J., Sheng X., Chou A., Schumacher F.R., Olama A.A.A., Benlloch S., Dadaev T., Brook M.N., Sahimi A., Hoffmann T.J., Takahashi A., Matsuda K., Momozawa Y., Le Marchand L., Wilkens L.R., Stevens V.L., Gapstur S.M., Carter B.D., Schleutker J., Tammela T.L.J., Sipeky C., Auvinen A., Giles G.G., Southey M.C., MacInnis R.J., Cybulski C., Wokolorczyk D., Lubinski J., Neal D.E., Donovan J.L., Hamdy F.C., Martin R.M., Nordestgaard B.G., Nielsen S.F., Weischer M., Bojesen S.E., Roder M.A., Iversen P., Batra J., Chambers S., Moya L., Horvath L., Clements J.A., Tilley W., Risbridger G.P., Gronberg H., Aly M., Szulkin R., Eklund M., Nordstrom T., Pashayan N., Dunning A.M., Ghoussaini M., Travis R.C., Key T.J., Riboli E., Park J.Y., Sellers T.A., Lin H.-Y., Albanes D., Weinstein S.J., Mucci L.A., Giovannucci E., Lindstrom S., Kraft P., Hunter D.J., Penney K.L., Turman C., Tangen C.M., Goodman P.J., Fujita M., Hamilton R.J., Fleshner N.E., Finelli A., Parent M.-E., Stanford J.L., Ostrander E.A., Geybels M.S., Koutros S., Freeman L.E.B., Stampfer M., Wolk A., Hakansson N., Andriole G.L., Hoover R.N., Machiela M.J., Sorensen K.D., Borre M., Blot W.J., Zheng W., Yeboah E.D., Mensah J.E., Lu Y.-J., Zhang H.-W., Feng N., Mao X., Wu Y., Zhao S.-C., Sun Z., Thibodeau S.N., McDonnell S.K., Schaid D.J., West C.M.L., Burnet N., Barnett G., Maier C., Schnoeller T., Luedeke M., Kibel A.S., Drake B.F., Cussenot O., Cancel-Tassin G., Menegaux F., Truong T., Koudou Y.A., John E.M., Grindedal E.M., Maehle L., Khaw K.-T., and Ingles S.A.
Abstract: Prostate cancer is a highly heritable disease with large disparities in incidence rates across ancestry populations. We conducted a multiancestry meta-analysis of prostate cancer genome-wide association studies (107,247 cases and 127,006 controls) and identified 86 new genetic risk variants independently associated with prostate cancer risk, bringing the total to 269 known risk variants. The top genetic risk score (GRS) decile was associated with odds ratios that ranged from 5.06 (95% confidence interval (CI), 4.84-5.29) for men of European ancestry to 3.74 (95% CI, 3.36-4.17) for men of African ancestry. Men of African ancestry were estimated to have a mean GRS that was 2.18-times higher (95% CI, 2.14-2.22), and men of East Asian ancestry 0.73-times lower (95% CI, 0.71-0.76), than men of European ancestry. These findings support the role of germline variation contributing to population differences in prostate cancer risk, with the GRS offering an approach for personalized risk prediction.Copyright © 2021, The Author(s), under exclusive licence to Springer Nature America, Inc.
Published: 2021

12. Germline Sequencing DNA Repair Genes in 5545 Men with Aggressive and Nonaggressive Prostate Cancer.

Author: Darst B.F., Dadaev T., Saunders E., Sheng X., Wan P., Pooler L., Xia L.Y., Chanock S., Berndt S.I., Gapstur S.M., Stevens V., Albanes D., Weinstein S.J., Gnanapragasam V., Giles G.G., Nguyen-Dumont T., Milne R.L., Pomerantz M., Schmidt J.A., Mucci L., Catalona W.J., Hetrick K.N., Doheny K.F., MacInnis R.J., Southey M.C., Eeles R.A., Wiklund F., Kote-Jarai Z., Conti D.V., Haiman C.A., Darst B.F., Dadaev T., Saunders E., Sheng X., Wan P., Pooler L., Xia L.Y., Chanock S., Berndt S.I., Gapstur S.M., Stevens V., Albanes D., Weinstein S.J., Gnanapragasam V., Giles G.G., Nguyen-Dumont T., Milne R.L., Pomerantz M., Schmidt J.A., Mucci L., Catalona W.J., Hetrick K.N., Doheny K.F., MacInnis R.J., Southey M.C., Eeles R.A., Wiklund F., Kote-Jarai Z., Conti D.V., and Haiman C.A.
Abstract: Background: There is an urgent need to identify factors specifically associated with aggressive prostate cancer (PCa) risk. We investigated whether rare pathogenic, likely pathogenic, or deleterious (P/LP/D) germline variants in DNA repair genes are associated with aggressive PCa risk in a case-case study of aggressive vs nonaggressive disease. Method(s): Participants were 5545 European-ancestry men, including 2775 nonaggressive and 2770 aggressive PCa cases, which included 467 metastatic cases (16.9%). Samples were assembled from 12 international studies and germline sequenced together. Rare (minor allele frequency < 0.01) P/LP/D variants were analyzed for 155 DNA repair genes. We compared single variant, gene-based, and DNA repair pathway-based burdens by disease aggressiveness. All statistical tests are 2-sided. Result(s): BRCA2 and PALB2 had the most statistically significant gene-based associations, with 2.5% of aggressive and 0.8% of nonaggressive cases carrying P/LP/D BRCA2 alleles (odds ratio [OR] = 3.19, 95% confidence interval [CI] = 1.94 to 5.25, P = 8.58 x 10-7) and 0.65% of aggressive and 0.11% of nonaggressive cases carrying P/LP/D PALB2 alleles (OR = 6.31, 95% CI = 1.83 to 21.68, P = 4.79 x 10-4). ATM had a nominal association, with 1.6% of aggressive and 0.8% of nonaggressive cases carrying P/LP/D ATM alleles (OR = 1.88, 95% CI = 1.10 to 3.22, P =. 02). In aggregate, P/LP/D alleles within 24 literature-curated candidate PCa DNA repair genes were more common in aggressive than nonaggressive cases (carrier frequencies = 14.2% vs 10.6%, respectively; P = 5.56 x 10-5). However, this difference was non-statistically significant (P =. 18) on excluding BRCA2, PALB2, and ATM. Among these 24 genes, P/LP/D carriers had a 1.06-year younger diagnosis age (95% CI = -1.65 to 0.48, P = 3.71 x 10-4). Conclusion(s): Risk conveyed by DNA repair genes is largely driven by rare P/LP/D alleles within BRCA2, PALB2, and ATM. These findings support the importance of these g
Published: 2021

13. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Author: Patel, V.L., Busch, E.L., Friebel, T.M., Cronin, A., Leslie, G., McGuffog, L., Adlard, J., Agata, S., Agnarsson, B.A., Ahmed, M., Aittomaki, K., Alducci, E., Andrulis, I.L., Arason, A., Arnold, N., Artioli, G., Arver, B., Auber, B., Azzollini, J., Balmana, J., Barkardottir, R.B., Barnes, D.R., Barroso, A., Barrowdale, D., Belotti, M., Benitez, J., Bertelsen, B., Blok, M.J., Bodrogi, I., Bonadona, V., Bonanni, B., Bondavalli, D., Boonen, S.E., Borde, J., Borg, A., Bradbury, A.R., Brady, A., Brewer, C., Brunet, J., Buecher, B., Buys, S.S., Cabezas-Camarero, S., Caldes, T., Caliebe, A., Caligo, M.A., Calvello, M., Campbell, I.G., Carnevali, I., Carrasco, E., Chan, T.L., Chu, A.T.W., Chung, W.K., Claes, K.B.M., Cook, J., Cortesi, L., Couch, F.J., Daly, M.B., Damante, G., Darder, E., Davidson, R., Hoya, M. de la, Puppa, L.D., Dennis, J., Diez, O., Ding, Y.C., Ditsch, N., Domchek, S.M., Donaldson, A., Dworniczak, B., Easton, D.F., Eccles, D.M., Eeles, R.A., Ehrencrona, H., Ejlertsen, B., Engel, C., Evans, D.G., Faivre, L., Faust, U., Feliubadalo, L., Foretova, L., Fostira, F., Fountzilas, G., Frost, D., Garcia-Barberan, V., Garre, P., Gauthier-Villars, M., Geczi, L., Gehrig, A., Gerdes, A.M., Gesta, P., Giannini, G., Glendon, G., Godwin, A.K., Goldgar, D.E., Greene, M.H., Gutierrez-Barrera, A.M., Hahnen, E., Hamann, U., Mensenkamp, A.R., Nielsen, H., Rebbeck, T.R., Patel, V.L., Busch, E.L., Friebel, T.M., Cronin, A., Leslie, G., McGuffog, L., Adlard, J., Agata, S., Agnarsson, B.A., Ahmed, M., Aittomaki, K., Alducci, E., Andrulis, I.L., Arason, A., Arnold, N., Artioli, G., Arver, B., Auber, B., Azzollini, J., Balmana, J., Barkardottir, R.B., Barnes, D.R., Barroso, A., Barrowdale, D., Belotti, M., Benitez, J., Bertelsen, B., Blok, M.J., Bodrogi, I., Bonadona, V., Bonanni, B., Bondavalli, D., Boonen, S.E., Borde, J., Borg, A., Bradbury, A.R., Brady, A., Brewer, C., Brunet, J., Buecher, B., Buys, S.S., Cabezas-Camarero, S., Caldes, T., Caliebe, A., Caligo, M.A., Calvello, M., Campbell, I.G., Carnevali, I., Carrasco, E., Chan, T.L., Chu, A.T.W., Chung, W.K., Claes, K.B.M., Cook, J., Cortesi, L., Couch, F.J., Daly, M.B., Damante, G., Darder, E., Davidson, R., Hoya, M. de la, Puppa, L.D., Dennis, J., Diez, O., Ding, Y.C., Ditsch, N., Domchek, S.M., Donaldson, A., Dworniczak, B., Easton, D.F., Eccles, D.M., Eeles, R.A., Ehrencrona, H., Ejlertsen, B., Engel, C., Evans, D.G., Faivre, L., Faust, U., Feliubadalo, L., Foretova, L., Fostira, F., Fountzilas, G., Frost, D., Garcia-Barberan, V., Garre, P., Gauthier-Villars, M., Geczi, L., Gehrig, A., Gerdes, A.M., Gesta, P., Giannini, G., Glendon, G., Godwin, A.K., Goldgar, D.E., Greene, M.H., Gutierrez-Barrera, A.M., Hahnen, E., Hamann, U., Mensenkamp, A.R., Nielsen, H., and Rebbeck, T.R.
Abstract: Contains fulltext : 218251.pdf (Publisher’s version ) (Closed access), Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 were associated with risk of overall prostate cancer or high grade (Gleason 8+) prostate cancer using an international sample of 65 BRCA1 and 171 BRCA2 male PSV carriers with prostate cancer, and 3,388 BRCA1 and 2,880 BRCA2 male PSV carriers without prostate cancer. PSVs in the 3' region of BRCA2 (c.7914+) were significantly associated with elevated risk of prostate cancer compared with reference bin c.1001-c.7913 [HR = 1.78; 95% confidence interval (CI), 1.25-2.52; P = 0.001], as well as elevated risk of Gleason 8+ prostate cancer (HR = 3.11; 95% CI, 1.63-5.95; P = 0.001). c.756-c.1000 was also associated with elevated prostate cancer risk (HR = 2.83; 95% CI, 1.71-4.68; P = 0.00004) and elevated risk of Gleason 8+ prostate cancer (HR = 4.95; 95% CI, 2.12-11.54; P = 0.0002). No genotype-phenotype associations were detected for PSVs in BRCA1. These results demonstrate that specific BRCA2 PSVs may be associated with elevated risk of developing aggressive prostate cancer. SIGNIFICANCE: Aggressive prostate cancer risk in BRCA2 mutation carriers may vary according to the specific BRCA2 mutation inherited by the at-risk individual.
Published: 2020

14. Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness.

Author: Engel C., Schmutzler R.K., Schuster H., Senter L., Seynaeve C.M., Shah P.D., Sharma P., Shin V.Y., Silvestri V., Simard J., Singer C.F., Skytte A.-B., Snape K., Solano A.R., Soucy P., Southey M.C., Spurdle A.B., Steele L., Steinemann D., Stoppa-Lyonnet D., Stradella A., Sunde L., Sutter C., Tan Y.Y., Teixeira M.R., Teo S.H., Thomassen M., Tibiletti M.G., Tischkowitz M., Tognazzo S., Toland A.E., Tommasi S., Torres D., Toss A., Trainer A.H., Tung N., Van Asperen C.J., Van Der Baan F.H., Van Der Kolk L.E., Van Der Luijt R.B., Van Hest L.P., Varesco L., Varon-Mateeva R., Viel A., Vierstrate J., Villa R., Von Wachenfeldt A., Wagner P., Wang-Gohrke S., Wappenschmidt B., Weitzel J.N., Wieme G., Yadav S., Yannoukakos D., Yoon S.-Y., Zanzottera C., Zorn K.K., D'Amico A.V., Freedman M.L., Pomerantz M.M., Chenevix-Trench G., Antoniou A.C., Neuhausen S.L., Ottini L., Nielsen H.R., Rebbeck T.R., Patel V.L., Busch E.L., Friebel T.M., Cronin A., Leslie G., McGuffog L., Adlard J., Agata S., Agnarsson B.A., Ahmed M., Aittom K., Alducci E., Andrulis I.L., Arason A., Arnold N., Artioli G., Arver B., Auber B., Azzollini J., Balmana J., Barkardottir R.B., Barnes D.R., Barroso A., Barrowdale D., Belotti M., Benitez J., Bertelsen B., Blok M.J., Bodrogi I., Bonadona V., Bonanni B., Bondavalli D., Boonen S.E., Borde J., Borg A., Bradbury A.R., Brady A., Brewer C., Brunet J., Buecher B., Buys S.S., Cabezas-Camarero S., Caldes T., Caliebe A., Caligo M.A., Calvello M., Campbell I.G., Carnevali I., Carrasco E., Chan T.L., Chu A.T.W., Chung W.K., Claes K.B.M., Cook J., Cortesi L., Couch F.J., Daly M.B., Damante G., Darder E., Davidson R., De La Hoya M., Della Puppa L., Dennis J., Diez O., Ding Y.C., Ditsch N., Domchek S.M., Donaldson A., Dworniczak B., Easton D.F., Eccles D.M., Eeles R.A., Ehrencrona H., Ejlertsen B., Evans D.G., Faivre L., Faust U., Feliubadalo L., Foretova L., Fostira F., Fountzilas G., Frost D., Garcia-Barberan V., Garre P., Gauthier-Villars M., Geczi L., Gehrig A., Gerdes A.-M., Gesta P., Giannini G., Glendon G., Godwin A.K., Goldgar D.E., Greene M.H., Gutierrez-Barrera A.M., Hahnen E., Hamann U., Hauke J., Herold N., Hogervorst F.B.L., Honisch E., Hopper J.L., Hulick P.J., Izatt L., Jager A., James P., Janavicius R., Jensen U.B., Jensen T.D., Johannsson O.Th., John E.M., Joseph V., Kang E., Kast K., Kiiski J.I., Kim S.-W., Kim Z., Ko K.-P., Konstantopoulou I., Kramer G., Krogh L., Kruse T.A., Kwong A., Larsen M., Lasset C., Lautrup C., Lazaro C., Lee J., Lee J.W., Lee M.H., Lemke J., Lesueur F., Liljegren A., Lindblom A., Llovet P., Lopez-Fernandez A., Lopez-Perolio I., Lorca V., Loud J.T., Ma E.S.K., Mai P.L., Manoukian S., Mari V., Martin L., Matricardi L., Mebirouk N., Medici V., Meijers-Heijboer H.E.J., Meindl A., Mensenkamp A.R., Miller C., Gomes D.M., Montagna M., Mooij T.M., Moserle L., Mouret-Fourme E., Mulligan A.M., Nathanson K.L., Navratilova M., Nevanlinna H., Niederacher D., Cilius Nielsen F.C., Nikitina-Zake L., Offit K., Olah E., Olopade O.I., Ong K.-R., Osorio A., Ott C.-E., Palli D., Park S.K., Parsons M.T., Pedersen I.S., Peissel B., Peixoto A., Perez-Segura P., Peterlongo P., Petersen A.H., Porteous M.E., Pujana M.A., Radice P., Ramser J., Rantala J., Rashid M.U., Rhiem K., Rizzolo P., Robson M.E., Rookus M.A., Rossing C.M., Ruddy K.J., Santos C., Saule C., Scarpitta R., Engel C., Schmutzler R.K., Schuster H., Senter L., Seynaeve C.M., Shah P.D., Sharma P., Shin V.Y., Silvestri V., Simard J., Singer C.F., Skytte A.-B., Snape K., Solano A.R., Soucy P., Southey M.C., Spurdle A.B., Steele L., Steinemann D., Stoppa-Lyonnet D., Stradella A., Sunde L., Sutter C., Tan Y.Y., Teixeira M.R., Teo S.H., Thomassen M., Tibiletti M.G., Tischkowitz M., Tognazzo S., Toland A.E., Tommasi S., Torres D., Toss A., Trainer A.H., Tung N., Van Asperen C.J., Van Der Baan F.H., Van Der Kolk L.E., Van Der Luijt R.B., Van Hest L.P., Varesco L., Varon-Mateeva R., Viel A., Vierstrate J., Villa R., Von Wachenfeldt A., Wagner P., Wang-Gohrke S., Wappenschmidt B., Weitzel J.N., Wieme G., Yadav S., Yannoukakos D., Yoon S.-Y., Zanzottera C., Zorn K.K., D'Amico A.V., Freedman M.L., Pomerantz M.M., Chenevix-Trench G., Antoniou A.C., Neuhausen S.L., Ottini L., Nielsen H.R., Rebbeck T.R., Patel V.L., Busch E.L., Friebel T.M., Cronin A., Leslie G., McGuffog L., Adlard J., Agata S., Agnarsson B.A., Ahmed M., Aittom K., Alducci E., Andrulis I.L., Arason A., Arnold N., Artioli G., Arver B., Auber B., Azzollini J., Balmana J., Barkardottir R.B., Barnes D.R., Barroso A., Barrowdale D., Belotti M., Benitez J., Bertelsen B., Blok M.J., Bodrogi I., Bonadona V., Bonanni B., Bondavalli D., Boonen S.E., Borde J., Borg A., Bradbury A.R., Brady A., Brewer C., Brunet J., Buecher B., Buys S.S., Cabezas-Camarero S., Caldes T., Caliebe A., Caligo M.A., Calvello M., Campbell I.G., Carnevali I., Carrasco E., Chan T.L., Chu A.T.W., Chung W.K., Claes K.B.M., Cook J., Cortesi L., Couch F.J., Daly M.B., Damante G., Darder E., Davidson R., De La Hoya M., Della Puppa L., Dennis J., Diez O., Ding Y.C., Ditsch N., Domchek S.M., Donaldson A., Dworniczak B., Easton D.F., Eccles D.M., Eeles R.A., Ehrencrona H., Ejlertsen B., Evans D.G., Faivre L., Faust U., Feliubadalo L., Foretova L., Fostira F., Fountzilas G., Frost D., Garcia-Barberan V., Garre P., Gauthier-Villars M., Geczi L., Gehrig A., Gerdes A.-M., Gesta P., Giannini G., Glendon G., Godwin A.K., Goldgar D.E., Greene M.H., Gutierrez-Barrera A.M., Hahnen E., Hamann U., Hauke J., Herold N., Hogervorst F.B.L., Honisch E., Hopper J.L., Hulick P.J., Izatt L., Jager A., James P., Janavicius R., Jensen U.B., Jensen T.D., Johannsson O.Th., John E.M., Joseph V., Kang E., Kast K., Kiiski J.I., Kim S.-W., Kim Z., Ko K.-P., Konstantopoulou I., Kramer G., Krogh L., Kruse T.A., Kwong A., Larsen M., Lasset C., Lautrup C., Lazaro C., Lee J., Lee J.W., Lee M.H., Lemke J., Lesueur F., Liljegren A., Lindblom A., Llovet P., Lopez-Fernandez A., Lopez-Perolio I., Lorca V., Loud J.T., Ma E.S.K., Mai P.L., Manoukian S., Mari V., Martin L., Matricardi L., Mebirouk N., Medici V., Meijers-Heijboer H.E.J., Meindl A., Mensenkamp A.R., Miller C., Gomes D.M., Montagna M., Mooij T.M., Moserle L., Mouret-Fourme E., Mulligan A.M., Nathanson K.L., Navratilova M., Nevanlinna H., Niederacher D., Cilius Nielsen F.C., Nikitina-Zake L., Offit K., Olah E., Olopade O.I., Ong K.-R., Osorio A., Ott C.-E., Palli D., Park S.K., Parsons M.T., Pedersen I.S., Peissel B., Peixoto A., Perez-Segura P., Peterlongo P., Petersen A.H., Porteous M.E., Pujana M.A., Radice P., Ramser J., Rantala J., Rashid M.U., Rhiem K., Rizzolo P., Robson M.E., Rookus M.A., Rossing C.M., Ruddy K.J., Santos C., Saule C., and Scarpitta R.
Abstract: Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 were associated with risk of overall prostate cancer or high grade (Gleason 8) prostate cancer using an international sample of 65 BRCA1 and 171 BRCA2 male PSV carriers with prostate cancer, and 3,388 BRCA1 and 2,880 BRCA2 male PSV carriers without prostate cancer. PSVs in the 30 region of BRCA2 (c.7914) were significantly associated with elevated risk of prostate cancer compared with reference bin c.1001c.7913 [HR 1/4 1.78; 95% confidence interval (CI), 1.25-2.52; P 1/4 0.001], as well as elevated risk of Gleason 8 prostate cancer (HR 1/4 3.11; 95% CI, 1.63-5.95; P 1/4 0.001). c.756-c.1000 was also associated with elevated prostate cancer risk (HR 1/4 2.83; 95% CI, 1.71-4.68; P 1/4 0.00004) and elevated risk of Gleason 8 prostate cancer (HR 1/4 4.95; 95% CI, 2.12-11.54; P 1/4 0.0002). No genotype-phenotype associations were detected for PSVs in BRCA1. These results demonstrate that specific BRCA2 PSVs may be associated with elevated risk of developing aggressive prostate cancer.Copyright © 2020 American Association for Cancer Research.
Published: 2020

15. Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers.

Author: Houlston R., Choudhury P.P., Easton D.F., Milne R.L., Simard J., Hall P., Michailidou K., Dennis J., Schmidt M.K., Chang-Claude J., Gharahkhani P., Whiteman D., O'Mara T.A., Spurdle A.B., Thompson D.J., Tomlinson I., De Vivo I., Campbell P.T., Hoffmeister M., Jenkins M., Peters U., Hsu L., Gruber S.B., Casey G., Schmit S.L., Landi M.T., Law M.H., Iles M.M., Demenais F., Kumar R., MacGregor S., Bishop D.T., Ward S.V., Bondy M.L., Wiencke J.K., Melin B., Barnholtz-Sloan J., Kinnersley B., Wrensch M.R., Hung R.J., Caporaso N.E., Berndt S.I., Birmann B.M., Camp N.J., Kraft P., Rothman N., Slager S.L., Berchuck A., Pharoah P.D.P., Sellers T.A., Gayther S.A., Pearce C.L., Goode E.L., Schildkraut J.M., Moysich K.B., Amos C.I., Brennan P., McKay J., Amundadottir L.T., Jacobs E.J., Klein A.P., Petersen G.M., Risch H.A., Stolzenberg-Solomon R.Z., Wolpin B.M., Li D., Eeles R.A., Haiman C.A., Kote-Jarai Z., Schumacher F.R., Al Olama A.A., Purdue M.P., Scelo G., Dalgaard M.D., Greene M.H., Grotmol T., Kanetsky P.A., McGlynn K.A., Nathanson K.L., Turnbull C., Wiklund F., Chanock S.J., Chatterjee N., Garcia-Closas M., Zhang Y.D., Hurson A.N., Zhang H., Houlston R., Choudhury P.P., Easton D.F., Milne R.L., Simard J., Hall P., Michailidou K., Dennis J., Schmidt M.K., Chang-Claude J., Gharahkhani P., Whiteman D., O'Mara T.A., Spurdle A.B., Thompson D.J., Tomlinson I., De Vivo I., Campbell P.T., Hoffmeister M., Jenkins M., Peters U., Hsu L., Gruber S.B., Casey G., Schmit S.L., Landi M.T., Law M.H., Iles M.M., Demenais F., Kumar R., MacGregor S., Bishop D.T., Ward S.V., Bondy M.L., Wiencke J.K., Melin B., Barnholtz-Sloan J., Kinnersley B., Wrensch M.R., Hung R.J., Caporaso N.E., Berndt S.I., Birmann B.M., Camp N.J., Kraft P., Rothman N., Slager S.L., Berchuck A., Pharoah P.D.P., Sellers T.A., Gayther S.A., Pearce C.L., Goode E.L., Schildkraut J.M., Moysich K.B., Amos C.I., Brennan P., McKay J., Amundadottir L.T., Jacobs E.J., Klein A.P., Petersen G.M., Risch H.A., Stolzenberg-Solomon R.Z., Wolpin B.M., Li D., Eeles R.A., Haiman C.A., Kote-Jarai Z., Schumacher F.R., Al Olama A.A., Purdue M.P., Scelo G., Dalgaard M.D., Greene M.H., Grotmol T., Kanetsky P.A., McGlynn K.A., Nathanson K.L., Turnbull C., Wiklund F., Chanock S.J., Chatterjee N., Garcia-Closas M., Zhang Y.D., Hurson A.N., and Zhang H.
Abstract: Genome-wide association studies (GWAS) have led to the identification of hundreds of susceptibility loci across cancers, but the impact of further studies remains uncertain. Here we analyse summary-level data from GWAS of European ancestry across fourteen cancer sites to estimate the number of common susceptibility variants (polygenicity) and underlying effect-size distribution. All cancers show a high degree of polygenicity, involving at a minimum of thousands of loci. We project that sample sizes required to explain 80% of GWAS heritability vary from 60,000 cases for testicular to over 1,000,000 cases for lung cancer. The maximum relative risk achievable for subjects at the 99th risk percentile of underlying polygenic risk scores (PRS), compared to average risk, ranges from 12 for testicular to 2.5 for ovarian cancer. We show that PRS have potential for risk stratification for cancers of breast, colon and prostate, but less so for others because of modest heritability and lower incidence.Copyright © 2020, This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply.
Published: 2020

16. Germline sequencing DNA repair genes in 5,545 men with aggressive and non-aggressive prostate cancer.

Author: Wiklund F., Southey M.C., Eeles R.A., Kote-Jarai Z., Haiman C.A., Conti D.V., Darst B.F., Dadaev T., Saunders E., Sheng X., Wan P., Pooler L., Xia L.Y., Chanock S., Berndt S.I., Gapstur S.M., Stevens V., Albanes D., Weinstein S.J., Gnanapragasam V., Giles G.G., Nguyen-Dumont T., Milne R.L., Pomerantz M., Schmidt J.A., Mucci L., Catalona W.J., Hetrick K.N., Doheny K.F., MacInnis R.J., Wiklund F., Southey M.C., Eeles R.A., Kote-Jarai Z., Haiman C.A., Conti D.V., Darst B.F., Dadaev T., Saunders E., Sheng X., Wan P., Pooler L., Xia L.Y., Chanock S., Berndt S.I., Gapstur S.M., Stevens V., Albanes D., Weinstein S.J., Gnanapragasam V., Giles G.G., Nguyen-Dumont T., Milne R.L., Pomerantz M., Schmidt J.A., Mucci L., Catalona W.J., Hetrick K.N., Doheny K.F., and MacInnis R.J.
Abstract: BACKGROUND: There is an urgent need to identify factors specifically associated with aggressive prostate cancer (PCa) risk. We investigated whether rare pathogenic, likely pathogenic, or deleterious (P/LP/D) germline variants in DNA repair genes are associated with aggressive PCa risk in a case-case study of aggressive versus non-aggressive disease. METHOD(S): Participants were 5,545 European-ancestry men, including 2,775 non-aggressive and 2,770 aggressive PCa cases, which included 467 metastatic cases (16.9%). Samples were assembled from 12 international studies and germline sequenced together. Rare (minor allele frequency<0.01) P/LP/D variants were analyzed for 155 DNA repair genes. We compared single variant, gene-based, and DNA repair pathway-based burdens by disease aggressiveness. All statistical tests are two-sided. RESULT(S): BRCA2 and PALB2 had the most statistically significant gene-based associations, with 2.5% of aggressive and 0.8% of non-aggressive cases carrying P/LP/D BRCA2 alleles (OR=3.19, 95% CI=1.94 to 5.25, P=8.58x10-7) and 0.65% of aggressive and 0.11% of non-aggressive cases carrying P/LP/D PALB2 alleles (OR=6.31, 95% CI=1.83 to 21.68, P=4.79x10-4). ATM had a nominal association, with 1.6% of aggressive and 0.8% of non-aggressive cases carrying P/LP/D ATM alleles (OR=1.88, 95% CI=1.10 to 3.22, P=.02). In aggregate, P/LP/D alleles within 24 literature-curated candidate PCa DNA repair genes were more common in aggressive than non-aggressive cases (carrier frequencies=14.2% versus 10.6%, respectively; P=5.56x10-5). However, this difference was statistically non-significant (P=.18) upon excluding BRCA2, PALB2, and ATM. Among these 24 genes, P/LP/D carriers had a 1.06-year younger diagnosis age (95% CI=-1,65 to 0.48, P=3.71x10-4). CONCLUSION(S): Risk conveyed by DNA repair genes is largely driven by rare P/LP/D alleles within BRCA2, PALB2, and ATM. These findings support the importance of these genes in both screening and disease management consid
Published: 2020

17. An integrative multi-omics analysis to identify candidate DNA methylation biomarkers related to prostate cancer risk

Author: Wu, L. (Lang), Yang, Y. (Yaohua), Guo, X. (Xingyi), Shu, X.-O. (Xiao-Ou), Cai, Q. (Qiuyin), Shu, X. (Xiang), Li, B. (Bingshan), Tao, R. (Ran), Wu, C. (Chong), Nikas, J.B. (Jason B.), Sun, Y. (Yanfa), Zhu, J. (Jingjing), Roobol-Bouts, M.J. (Monique), Giles, G.G. (Graham G.), Brenner, H. (Hermann), John, E.M. (Esther M.), Clements, J. (Judith), Grindedal, E.M. (Eli Marie), Park, J.Y. (Jong Y.), Stanford, J.L. (Janet L.), Kote-Jarai, Z. (Zsofia), Haiman, C.A. (Christopher), Eeles, R.A. (Rosalind A.), Zheng, W. (Wei), Long, J. (Jirong), Henderson, B.E. (Brian E.), Haiman, C.A. (Christopher A.), Kote-Jarai, Z., Schumacher, F.R. (Fredrick R), Easton, D. (Douglas), Benlloch, S. (Sara), Olama, A.A.A. (Ali Amin Al), Muir, K.R. (K.), Berndt, S.I. (Sonja I.), Conti, G. (Giario), Wiklund, F. (Fredrik), Chanock, S.J. (Stephen), Gapstur, S.M. (Susan M.), Stevens, V.L. (Victoria L.), Tangen, C.M. (Catherine M.), Batra, J. (Jyotsna), Grönberg, H. (Henrik), Pashayan, N. (Nora), Schleutker, J. (Johanna), Albanes, D. (Demetrius), Weinstein, S. (Stephanie), Wolk, K. (Kerstin), West, C. (Catharine), Mucci, L. (Lorelei), Cancel-Tassin, G. (Géraldine), Koutros, S. (Stella), Sorensen, K.D. (Karina Dalsgaard), Neal, D. (David), Hamdy, F.C. (Freddie C.), Donovan, J. (Jenny), Travis, R.C. (Ruth C.), Hamilton, R.J. (Robert J.), Ingles, S.A. (Sue), Rosenstein, B.S. (Barry S.), Lu, Y.-J. (Yong-Jie), Kibel, A. (Adam), Vega, A. (Ana), Kogevinas, M. (Manolis), Penney, K.L. (Kathryn L.), Cybulski, C. (Cezary), Nordestgaard, B.G. (Børge), Maier, C. (Christiane), Kim, J. (Jongoh), John, E.M. (Esther), Teixeira, P.J., Floris, O.A.M., De Ruyck, K. (Kim), Razack, A. (Azad), Newcomb, L.F. (Lisa F.), Gamulin, M. (Marija), Kaneva, R. (Radka), Usmani, N. (Nawaid), Claessens, F. (Frank), Townsend, P.A. (Paul A.), Dominguez, M.G. (Manuela Gago), Menegaux, F. (Florence), Khaw, K.-T. (Kay-Tee), Cannon-Albright, L.A. (Lisa), Pandha, H. (Hardev), Thibodeau, S.N. (Stephen), Hunter, D.J. (David), Blot, W.J. (William), Riboli, E. (Elio), Eeles, R. (Rosalind), Neal, D.E. (David E.), Hamdy, F. (Freddie), Donovan, J.L. (Jenny L.), Schumacher, F.R. (Fredrick R.), Berndt, S.I. (Sonja), Chanock, S. (Stephen), Travis, S.P.L. (Simon), Hunter, D.J. (David J.), Gronberg, H. (Henrik), Wu, L. (Lang), Yang, Y. (Yaohua), Guo, X. (Xingyi), Shu, X.-O. (Xiao-Ou), Cai, Q. (Qiuyin), Shu, X. (Xiang), Li, B. (Bingshan), Tao, R. (Ran), Wu, C. (Chong), Nikas, J.B. (Jason B.), Sun, Y. (Yanfa), Zhu, J. (Jingjing), Roobol-Bouts, M.J. (Monique), Giles, G.G. (Graham G.), Brenner, H. (Hermann), John, E.M. (Esther M.), Clements, J. (Judith), Grindedal, E.M. (Eli Marie), Park, J.Y. (Jong Y.), Stanford, J.L. (Janet L.), Kote-Jarai, Z. (Zsofia), Haiman, C.A. (Christopher), Eeles, R.A. (Rosalind A.), Zheng, W. (Wei), Long, J. (Jirong), Henderson, B.E. (Brian E.), Haiman, C.A. (Christopher A.), Kote-Jarai, Z., Schumacher, F.R. (Fredrick R), Easton, D. (Douglas), Benlloch, S. (Sara), Olama, A.A.A. (Ali Amin Al), Muir, K.R. (K.), Berndt, S.I. (Sonja I.), Conti, G. (Giario), Wiklund, F. (Fredrik), Chanock, S.J. (Stephen), Gapstur, S.M. (Susan M.), Stevens, V.L. (Victoria L.), Tangen, C.M. (Catherine M.), Batra, J. (Jyotsna), Grönberg, H. (Henrik), Pashayan, N. (Nora), Schleutker, J. (Johanna), Albanes, D. (Demetrius), Weinstein, S. (Stephanie), Wolk, K. (Kerstin), West, C. (Catharine), Mucci, L. (Lorelei), Cancel-Tassin, G. (Géraldine), Koutros, S. (Stella), Sorensen, K.D. (Karina Dalsgaard), Neal, D. (David), Hamdy, F.C. (Freddie C.), Donovan, J. (Jenny), Travis, R.C. (Ruth C.), Hamilton, R.J. (Robert J.), Ingles, S.A. (Sue), Rosenstein, B.S. (Barry S.), Lu, Y.-J. (Yong-Jie), Kibel, A. (Adam), Vega, A. (Ana), Kogevinas, M. (Manolis), Penney, K.L. (Kathryn L.), Cybulski, C. (Cezary), Nordestgaard, B.G. (Børge), Maier, C. (Christiane), Kim, J. (Jongoh), John, E.M. (Esther), Teixeira, P.J., Floris, O.A.M., De Ruyck, K. (Kim), Razack, A. (Azad), Newcomb, L.F. (Lisa F.), Gamulin, M. (Marija), Kaneva, R. (Radka), Usmani, N. (Nawaid), Claessens, F. (Frank), Townsend, P.A. (Paul A.), Dominguez, M.G. (Manuela Gago), Menegaux, F. (Florence), Khaw, K.-T. (Kay-Tee), Cannon-Albright, L.A. (Lisa), Pandha, H. (Hardev), Thibodeau, S.N. (Stephen), Hunter, D.J. (David), Blot, W.J. (William), Riboli, E. (Elio), Eeles, R. (Rosalind), Neal, D.E. (David E.), Hamdy, F. (Freddie), Donovan, J.L. (Jenny L.), Schumacher, F.R. (Fredrick R.), Berndt, S.I. (Sonja), Chanock, S. (Stephen), Travis, S.P.L. (Simon), Hunter, D.J. (David J.), and Gronberg, H. (Henrik)
Abstract: It remains elusive whether some of the associations identified in genome-wide association studies of prostate cancer (PrCa) may be due to regulatory effects of genetic variants on CpG sites, which may further influence expression of PrCa target genes. To search for CpG
Published: 2020
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18. Management of patients with advanced prostate cancer: recommendations of the St Gallen Advanced Prostate Cancer Consensus Conference (APCCC) 2015

Author: Gillessen, S., primary, Omlin, A., additional, Attard, G., additional, de Bono, J.S., additional, Efstathiou, E., additional, Fizazi, K., additional, Halabi, S., additional, Nelson, P.S., additional, Sartor, O., additional, Smith, M.R., additional, Soule, H.R., additional, Akaza, H., additional, Beer, T.M., additional, Beltran, H., additional, Chinnaiyan, A.M., additional, Daugaard, G., additional, Davis, I.D., additional, De Santis, M., additional, Drake, C.G., additional, Eeles, R.A., additional, Fanti, S., additional, Gleave, M.E., additional, Heidenreich, A., additional, Hussain, M., additional, James, N.D., additional, Lecouvet, F.E., additional, Logothetis, C.J., additional, Mastris, K., additional, Nilsson, S., additional, Oh, W.K., additional, Olmos, D., additional, Padhani, A.R., additional, Parker, C., additional, Rubin, M.A., additional, Schalken, J.A., additional, Scher, H.I., additional, Sella, A., additional, Shore, N.D., additional, Small, E.J., additional, Sternberg, C.N., additional, Suzuki, H., additional, Sweeney, C.J., additional, Tannock, I.F., additional, and Tombal, B., additional
Published: 2019
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19. Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers

Author: Page, Elizabeth C., Bancroft, Elizabeth K., Brook, Mark N., Assel, M., Battat, Mona Hassan Al, Thomas, S.L., Kiemeney, L.A., Zelst-Stams, W.A.G. van, Lilja, Hans, Eeles, R.A., Clinical Genetics, and Urology
Subjects: All institutes and research themes of the Radboud University Medical Center, Urological cancers Radboud Institute for Health Sciences [Radboudumc 15], Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
Abstract: Contains fulltext : 212399.pdf (Publisher’s version ) (Closed access)
Published: 2019

20. Correction to: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci (Nature Genetics, (2018), 50, 7, (928-936), 10.1038/s41588-018-0142-8).

Author: Xu J., Tyrer J., Truong T., Koudou Y.A., Khaw K.-T., Cannon-Albright L., Pandha H., Michael A., Thibodeau S.N., McDonnell S.K., Schaid D.J., Lindstrom S., Turman C., Ma J., Hunter D.J., Riboli E., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Hoover R.N., Machiela M.J., Cui Z., Kraft P., Amos C.I., Conti D.V., Easton D.F., Wiklund F., Chanock S.J., Henderson B.E., Kote-Jarai Z., Haiman C.A., Eeles R.A., Schumacher F.R., Olama A.A.A., Berndt S.I., Benlloch S., Ahmed M., Saunders E.J., Dadaev T., Leongamornlert D., Anokian E., Cieza-Borrella C., Goh C., Brook M.N., Sheng X., Fachal L., Dennis J., Muir K., Lophatananon A., Stevens V.L., Gapstur S.M., Carter B.D., Tangen C.M., Goodman P.J., Thompson I.M., Batra J., Chambers S., Moya L., Clements J., Horvath L., Tilley W., Risbridger G.P., Gronberg H., Aly M., Nordstrom T., Pharoah P., Pashayan N., Schleutker J., Tammela T.L.J., Sipeky C., Auvinen A., Albanes D., Weinstein S., Wolk A., Hakansson N., West C.M.L., Dunning A.M., Burnet N., Mucci L.A., Giovannucci E., Andriole G.L., Cussenot O., Cancel-Tassin G., Koutros S., Beane Freeman L.E., Sorensen K.D., Orntoft T.F., Borre M., Maehle L., Grindedal E.M., Neal D.E., Donovan J.L., Hamdy F.C., Martin R.M., Travis R.C., Key T.J., Hamilton R.J., Fleshner N.E., Finelli A., Ingles S.A., Stern M.C., Rosenstein B.S., Kerns S.L., Ostrer H., Lu Y.-J., Zhang H.-W., Feng N., Mao X., Guo X., Wang G., Sun Z., Giles G.G., Southey M.C., MacInnis R.J., FitzGerald L.M., Kibel A.S., Drake B.F., Vega A., Gomez-Caamano A., Szulkin R., Eklund M., Kogevinas M., Llorca J., Castano-Vinyals G., Penney K.L., Stampfer M., Park J.Y., Sellers T.A., Lin H.-Y., Stanford J.L., Cybulski C., Wokolorczyk D., Lubinski J., Ostrander E.A., Geybels M.S., Nordestgaard B.G., Nielsen S.F., Weischer M., Bisbjerg R., Roder M.A., Iversen P., Brenner H., Cuk K., Holleczek B., Maier C., Luedeke M., Schnoeller T., Kim J., Logothetis C.J., John E.M., Teixeira M.R., Paulo P., Cardoso M., Neuhausen S.L., Steele L., Ding Y.C., De Ruyck K., De Meerleer G., Ost P., Razack A., Lim J., Teo S.-H., Lin D.W., Newcomb L.F., Lessel D., Gamulin M., Kulis T., Kaneva R., Usmani N., Singhal S., Slavov C., Mitev V., Parliament M., Claessens F., Joniau S., Van den Broeck T., Larkin S., Townsend P.A., Aukim-Hastie C., Gago-Dominguez M., Castelao J.E., Martinez M.E., Roobol M.J., Jenster G., van Schaik R.H.N., Menegaux F., Xu J., Tyrer J., Truong T., Koudou Y.A., Khaw K.-T., Cannon-Albright L., Pandha H., Michael A., Thibodeau S.N., McDonnell S.K., Schaid D.J., Lindstrom S., Turman C., Ma J., Hunter D.J., Riboli E., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Hoover R.N., Machiela M.J., Cui Z., Kraft P., Amos C.I., Conti D.V., Easton D.F., Wiklund F., Chanock S.J., Henderson B.E., Kote-Jarai Z., Haiman C.A., Eeles R.A., Schumacher F.R., Olama A.A.A., Berndt S.I., Benlloch S., Ahmed M., Saunders E.J., Dadaev T., Leongamornlert D., Anokian E., Cieza-Borrella C., Goh C., Brook M.N., Sheng X., Fachal L., Dennis J., Muir K., Lophatananon A., Stevens V.L., Gapstur S.M., Carter B.D., Tangen C.M., Goodman P.J., Thompson I.M., Batra J., Chambers S., Moya L., Clements J., Horvath L., Tilley W., Risbridger G.P., Gronberg H., Aly M., Nordstrom T., Pharoah P., Pashayan N., Schleutker J., Tammela T.L.J., Sipeky C., Auvinen A., Albanes D., Weinstein S., Wolk A., Hakansson N., West C.M.L., Dunning A.M., Burnet N., Mucci L.A., Giovannucci E., Andriole G.L., Cussenot O., Cancel-Tassin G., Koutros S., Beane Freeman L.E., Sorensen K.D., Orntoft T.F., Borre M., Maehle L., Grindedal E.M., Neal D.E., Donovan J.L., Hamdy F.C., Martin R.M., Travis R.C., Key T.J., Hamilton R.J., Fleshner N.E., Finelli A., Ingles S.A., Stern M.C., Rosenstein B.S., Kerns S.L., Ostrer H., Lu Y.-J., Zhang H.-W., Feng N., Mao X., Guo X., Wang G., Sun Z., Giles G.G., Southey M.C., MacInnis R.J., FitzGerald L.M., Kibel A.S., Drake B.F., Vega A., Gomez-Caamano A., Szulkin R., Eklund M., Kogevinas M., Llorca J., Castano-Vinyals G., Penney K.L., Stampfer M., Park J.Y., Sellers T.A., Lin H.-Y., Stanford J.L., Cybulski C., Wokolorczyk D., Lubinski J., Ostrander E.A., Geybels M.S., Nordestgaard B.G., Nielsen S.F., Weischer M., Bisbjerg R., Roder M.A., Iversen P., Brenner H., Cuk K., Holleczek B., Maier C., Luedeke M., Schnoeller T., Kim J., Logothetis C.J., John E.M., Teixeira M.R., Paulo P., Cardoso M., Neuhausen S.L., Steele L., Ding Y.C., De Ruyck K., De Meerleer G., Ost P., Razack A., Lim J., Teo S.-H., Lin D.W., Newcomb L.F., Lessel D., Gamulin M., Kulis T., Kaneva R., Usmani N., Singhal S., Slavov C., Mitev V., Parliament M., Claessens F., Joniau S., Van den Broeck T., Larkin S., Townsend P.A., Aukim-Hastie C., Gago-Dominguez M., Castelao J.E., Martinez M.E., Roobol M.J., Jenster G., van Schaik R.H.N., and Menegaux F.
Abstract: In the version of this article initially published, the name of author Manuela Gago-Dominguez was misspelled as Manuela Gago Dominguez. The error has been corrected in the HTML and PDF version of the article.Copyright © 2018, The Author(s), under exclusive licence to Springer Nature America, Inc.
Published: 2019

21. Germline variation at 8q24 and prostate cancer risk in men of European ancestry.

Author: Carter B.D., Kerns S., Ostrer H., Zhang H.-W., Cao G., Lin J., Li M., Feng N., Li J., He W., Guo X., Sun Z., Wang G., Guo J., Southey M.C., FitzGerald L.M., Marsden G., Gomez-Caamano A., Carballo A., Peleteiro P., Calvo P., Szulkin R., Llorca J., Dierssen-Sotos T., Gomez-Acebo I., Lin H.-Y., Ostrander E.A., Bisbjerg R., Klarskov P., Roder M.A., Iversen P., Holleczek B., Stegmaier C., Schnoeller T., Bohnert P., John E.M., Ost P., Teo S.-H., Gamulin M., Kulis T., Kastelan Z., Slavov C., Popov E., Van den Broeck T., Joniau S., Larkin S., Castelao J.E., Martinez M.E., van Schaik R.H.N., Xu J., Lindstrom S., Riboli E., Berry C., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Freedman M., Cenee S., Sanchez M., Wiklund F., Chanock S.J., Easton D.F., Eeles R.A., Kote-Jarai Z., Conti D.V., Haiman C.A., Hutchinson A., Ling J., Papargiris M., Matejcic M., Saunders E.J., Dadaev T., Brook M.N., Wang K., Sheng X., Olama A.A.A., Schumacher F.R., Ingles S.A., Govindasami K., Benlloch S., Berndt S.I., Albanes D., Koutros S., Muir K., Stevens V.L., Gapstur S.M., Tangen C.M., Batra J., Clements J., Gronberg H., Pashayan N., Schleutker J., Wolk A., West C., Mucci L., Kraft P., Cancel-Tassin G., Sorensen K.D., Maehle L., Grindedal E.M., Strom S.S., Neal D.E., Hamdy F.C., Donovan J.L., Travis R.C., Hamilton R.J., Rosenstein B., Lu Y.-J., Giles G.G., Kibel A.S., Vega A., Bensen J.T., Kogevinas M., Penney K.L., Park J.Y., Stanford J.L., Cybulski C., Nordestgaard B.G., Brenner H., Maier C., Kim J., Teixeira M.R., Neuhausen S.L., De Ruyck K., Razack A., Newcomb L.F., Lessel D., Kaneva R., Usmani N., Claessens F., Townsend P.A., Dominguez M.G., Roobol M.J., Menegaux F., Khaw K.-T., Cannon-Albright L.A., Pandha H., Thibodeau S.N., Schaid D.J., Henderson B.E., Stern M.C., Thwaites A., Guy M., Whitmore I., Morgan A., Fisher C., Hazel S., Livni N., Cook M., Fachal L., Weinstein S., Beane Freeman L.E., Hoover R.N., Machiela M.J., Lophatananon A., Goodman P., Moya L., Srinivasan S., Kedda M.-A., Yeadon T., Eckert A., Eklund M., Cavalli-Bjoerkman C., Dunning A.M., Sipeky C., Hakansson N., Elliott R., Ranu H., Giovannucci E., Turman C., Hunter D.J., Cussenot O., Orntoft T.F., Lane A., Lewis S.J., Davis M., Key T.J., Brown P., Kulkarni G.S., Zlotta A.R., Fleshner N.E., Finelli A., Mao X., Marzec J., MacInnis R.J., Milne R., Hopper J.L., Aguado M., Bustamante M., Castano-Vinyals G., Gracia-Lavedan E., Cecchini L., Stampfer M., Ma J., Sellers T.A., Geybels M.S., Park H., Zachariah B., Kolb S., Wokolorczyk D., Jan Lubinski, Kluzniak W., Nielsen S.F., Weisher M., Cuk K., Vogel W., Luedeke M., Logothetis C.J., Paulo P., Cardoso M., Maia S., Silva M.P., Steele L., Ding Y.C., De Meerleer G., De Langhe S., Thierens H., Lim J., Tan M.H., Ong A.T., Lin D.W., Kachakova D., Mitkova A., Mitev V., Parliament M., Jenster G., Bangma C., Schroder F.H., Truong T., Koudou Y.A., Michael A., Kierzek A., Karlsson A., Broms M., Wu H., Aukim-Hastie C., Tillmans L., Riska S., McDonnell S.K., Dearnaley D., Spurdle A., Gardiner R., Hayes V., Butler L., Taylor R., Saunders P., Kujala P., Talala K., Taari K., Bentzen S., Hicks B., Vogt A., Cox A., George A., Toi A., Evans A., van der Kwast T.H., Imai T., Saito S., Zhao S.-C., Ren G., Zhang Y., Yu Y., Wu Y., Wu J., Zhou B., Pedersen J., Lobato-Busto R., Ruiz-Dominguez J.M., Mengual L., Alcaraz A., Pow-Sang J., Herkommer K., Vlahova A., Dikov T., Christova S., Carracedo A., Tretarre B., Rebillard X., Mulot C., Jan Adolfsson, Stattin P., Johansson J.-E., Martin R.M., Thompson I.M., Chambers S., Aitken J., Horvath L., Haynes A.-M., Tilley W., Risbridger G., Aly M., Nordstrom T., Pharoah P., Tammela T.L.J., Murtola T., Auvinen A., Burnet N., Barnett G., Andriole G., Klim A., Drake B.F., Borre M., Carter B.D., Kerns S., Ostrer H., Zhang H.-W., Cao G., Lin J., Li M., Feng N., Li J., He W., Guo X., Sun Z., Wang G., Guo J., Southey M.C., FitzGerald L.M., Marsden G., Gomez-Caamano A., Carballo A., Peleteiro P., Calvo P., Szulkin R., Llorca J., Dierssen-Sotos T., Gomez-Acebo I., Lin H.-Y., Ostrander E.A., Bisbjerg R., Klarskov P., Roder M.A., Iversen P., Holleczek B., Stegmaier C., Schnoeller T., Bohnert P., John E.M., Ost P., Teo S.-H., Gamulin M., Kulis T., Kastelan Z., Slavov C., Popov E., Van den Broeck T., Joniau S., Larkin S., Castelao J.E., Martinez M.E., van Schaik R.H.N., Xu J., Lindstrom S., Riboli E., Berry C., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Freedman M., Cenee S., Sanchez M., Wiklund F., Chanock S.J., Easton D.F., Eeles R.A., Kote-Jarai Z., Conti D.V., Haiman C.A., Hutchinson A., Ling J., Papargiris M., Matejcic M., Saunders E.J., Dadaev T., Brook M.N., Wang K., Sheng X., Olama A.A.A., Schumacher F.R., Ingles S.A., Govindasami K., Benlloch S., Berndt S.I., Albanes D., Koutros S., Muir K., Stevens V.L., Gapstur S.M., Tangen C.M., Batra J., Clements J., Gronberg H., Pashayan N., Schleutker J., Wolk A., West C., Mucci L., Kraft P., Cancel-Tassin G., Sorensen K.D., Maehle L., Grindedal E.M., Strom S.S., Neal D.E., Hamdy F.C., Donovan J.L., Travis R.C., Hamilton R.J., Rosenstein B., Lu Y.-J., Giles G.G., Kibel A.S., Vega A., Bensen J.T., Kogevinas M., Penney K.L., Park J.Y., Stanford J.L., Cybulski C., Nordestgaard B.G., Brenner H., Maier C., Kim J., Teixeira M.R., Neuhausen S.L., De Ruyck K., Razack A., Newcomb L.F., Lessel D., Kaneva R., Usmani N., Claessens F., Townsend P.A., Dominguez M.G., Roobol M.J., Menegaux F., Khaw K.-T., Cannon-Albright L.A., Pandha H., Thibodeau S.N., Schaid D.J., Henderson B.E., Stern M.C., Thwaites A., Guy M., Whitmore I., Morgan A., Fisher C., Hazel S., Livni N., Cook M., Fachal L., Weinstein S., Beane Freeman L.E., Hoover R.N., Machiela M.J., Lophatananon A., Goodman P., Moya L., Srinivasan S., Kedda M.-A., Yeadon T., Eckert A., Eklund M., Cavalli-Bjoerkman C., Dunning A.M., Sipeky C., Hakansson N., Elliott R., Ranu H., Giovannucci E., Turman C., Hunter D.J., Cussenot O., Orntoft T.F., Lane A., Lewis S.J., Davis M., Key T.J., Brown P., Kulkarni G.S., Zlotta A.R., Fleshner N.E., Finelli A., Mao X., Marzec J., MacInnis R.J., Milne R., Hopper J.L., Aguado M., Bustamante M., Castano-Vinyals G., Gracia-Lavedan E., Cecchini L., Stampfer M., Ma J., Sellers T.A., Geybels M.S., Park H., Zachariah B., Kolb S., Wokolorczyk D., Jan Lubinski, Kluzniak W., Nielsen S.F., Weisher M., Cuk K., Vogel W., Luedeke M., Logothetis C.J., Paulo P., Cardoso M., Maia S., Silva M.P., Steele L., Ding Y.C., De Meerleer G., De Langhe S., Thierens H., Lim J., Tan M.H., Ong A.T., Lin D.W., Kachakova D., Mitkova A., Mitev V., Parliament M., Jenster G., Bangma C., Schroder F.H., Truong T., Koudou Y.A., Michael A., Kierzek A., Karlsson A., Broms M., Wu H., Aukim-Hastie C., Tillmans L., Riska S., McDonnell S.K., Dearnaley D., Spurdle A., Gardiner R., Hayes V., Butler L., Taylor R., Saunders P., Kujala P., Talala K., Taari K., Bentzen S., Hicks B., Vogt A., Cox A., George A., Toi A., Evans A., van der Kwast T.H., Imai T., Saito S., Zhao S.-C., Ren G., Zhang Y., Yu Y., Wu Y., Wu J., Zhou B., Pedersen J., Lobato-Busto R., Ruiz-Dominguez J.M., Mengual L., Alcaraz A., Pow-Sang J., Herkommer K., Vlahova A., Dikov T., Christova S., Carracedo A., Tretarre B., Rebillard X., Mulot C., Jan Adolfsson, Stattin P., Johansson J.-E., Martin R.M., Thompson I.M., Chambers S., Aitken J., Horvath L., Haynes A.-M., Tilley W., Risbridger G., Aly M., Nordstrom T., Pharoah P., Tammela T.L.J., Murtola T., Auvinen A., Burnet N., Barnett G., Andriole G., Klim A., Drake B.F., and Borre M.
Abstract: Chromosome 8q24 is a susceptibility locus for multiple cancers, including prostate cancer. Here we combine genetic data across the 8q24 susceptibility region from 71,535 prostate cancer cases and 52,935 controls of European ancestry to define the overall contribution of germline variation at 8q24 to prostate cancer risk. We identify 12 independent risk signals for prostate cancer (p < 4.28 x 10-15), including three risk variants that have yet to be reported. From a polygenic risk score (PRS) model, derived to assess the cumulative effect of risk variants at 8q24, men in the top 1% of the PRS have a 4-fold (95%CI = 3.62-4.40) greater risk compared to the population average. These 12 variants account for ~25% of what can be currently explained of the familial risk of prostate cancer by known genetic risk factors. These findings highlight the overwhelming contribution of germline variation at 8q24 on prostate cancer risk which has implications for population risk stratification.Copyright © 2018, The Author(s).
Published: 2019

22. Shared heritability and functional enrichment across six solid cancers.

Author: Fletcher O., Tardon A., Taylor J.A., Teare M.D., Teixeira M.R., Terry M.B., Terry K.L., Thibodeau S.N., Thomassen M., Bjorge L., Tischkowitz M., Toland A.E., Torres D., Townsend P.A., Travis R.C., Tung N., Tworoger S.S., Ulrich C.M., Usmani N., Vachon C.M., Van Nieuwenhuysen E., Vega A., Aguado-Barrera M.E., Wang Q., Webb P.M., Weinberg C.R., Weinstein S., Weissler M.C., Weitzel J.N., West C.M.L., White E., Whittemore A.S., Wichmann H.-E., Wiklund F., Winqvist R., Wolk A., Woll P., Woods M., Wu A.H., Wu X., Yannoukakos D., Zheng W., Zienolddiny S., Ziogas A., Zorn K.K., Lane J.M., Saxena R., Thomas D., Hung R.J., Diergaarde B., McKay J., Peters U., Hsu L., Garcia-Closas M., Eeles R.A., Chenevix-Trench G., Brennan P.J., Haiman C.A., Simard J., Easton D.F., Gruber S.B., Pharoah P.D.P., Price A.L., Pasaniuc B., Amos C.I., Kraft P., Lindstrom S., Chen C., Anton-Culver H., Antoniou A.C., Antonenkova N.N., Arnold S.M., Jiang X., Finucane H.K., Schumacher F.R., Schmit S.L., Tyrer J.P., Han Y., Michailidou K., Lesseur C., Kuchenbaecker K.B., Dennis J., Conti D.V., Casey G., Gaudet M.M., Huyghe J.R., Albanes D., Aldrich M.C., Andrew A.S., Andrulis I.L., Aronson K.J., Arun B.K., Bandera E.V., Barkardottir R.B., Barnes D.R., Batra J., Beckmann M.W., Benitez J., Benlloch S., Berchuck A., Berndt S.I., Bickeboller H., Bien S.A., Blomqvist C., Boccia S., Bogdanova N.V., Bojesen S.E., Bolla M.K., Brauch H., Brenner H., Brenton J.D., Brook M.N., Brunet J., Brunnstrom H., Buchanan D.D., Burwinkel B., Butzow R., Cadoni G., Caldes T., Caligo M.A., Campbell I., Campbell P.T., Cancel-Tassin G., Cannon-Albright L., Campa D., Caporaso N., Carvalho A.L., Chan A.T., Chang-Claude J., Chanock S.J., Christiani D.C., Claes K.B.M., Claessens F., Clements J., Collee J.M., Correa M.C., Couch F.J., Cox A., Cunningham J.M., Cybulski C., Czene K., Daly M.B., deFazio A., Devilee P., Diez O., Gago-Dominguez M., Donovan J.L., Dork T., Duell E.J., Dunning A.M., Dwek M., Eccles D.M., Edlund C.K., Edwards D.R.V., Ellberg C., Evans D.G., Fasching P.A., Ferris R.L., Liloglou T., Figueiredo J.C., Fortner R.T., Fostira F., Franceschi S., Friedman E., Gallinger S.J., Ganz P.A., Garber J., Garcia-Saenz J.A., Gayther S.A., Giles G.G., Godwin A.K., Goldberg M.S., Goldgar D.E., Goode E.L., Goodman M.T., Goodman G., Grankvist K., Greene M.H., Gronberg H., Gronwald J., Guenel P., Hakansson N., Hall P., Hamann U., Hamdy F.C., Hamilton R.J., Hampe J., Haugen A., Heitz F., Herrero R., Hillemanns P., Hoffmeister M., Hogdall E., Hong Y.-C., Hopper J.L., Houlston R., Hulick P.J., Hunter D.J., Huntsman D.G., Idos G., Imyanitov E.N., Ingles S.A., Isaacs C., Jakubowska A., James P., Jenkins M.A., Johansson M., John E.M., Joshi A.D., Kaneva R., Karlan B.Y., Kelemen L.E., Kuhl T., Khaw K.-T., Khusnutdinova E., Kibel A.S., Kiemeney L.A., Kim J., Kjaer S.K., Knight J.A., Kogevinas M., Kote-Jarai Z., Koutros S., Kristensen V.N., Kupryjanczyk J., Lacko M., Lam S., Lambrechts D., Landi M.T., Lazarus P., Le N.D., Lee E., Lejbkowicz F., Lenz H.-J., Leslie G., Lessel D., Lester J., Levine D.A., Li L., Li C.I., Lindblom A., Lindor N.M., Liu G., Loupakis F., Lubinski J., Maehle L., Maier C., Mannermaa A., Marchand L.L., Margolin S., May T., McGuffog L., Meindl A., Middha P., Miller A., Milne R.L., MacInnis R.J., Modugno F., Montagna M., Moreno V., Moysich K.B., Mucci L., Muir K., Mulligan A.M., Nathanson K.L., Neal D.E., Ness A.R., Neuhausen S.L., Nevanlinna H., Newcomb P.A., Newcomb L.F., Nielsen F.C., Nikitina-Zake L., Nordestgaard B.G., Nussbaum R.L., Offit K., Olah E., Olama A.A.A., Olopade O.I., Olshan A.F., Olsson H., Osorio A., Pandha H., Park J.Y., Pashayan N., Parsons M.T., Pejovic T., Penney K.L., Peters W.H.M., Phelan C.M., Phipps A.I., Plaseska-Karanfilska D., Pring M., Prokofyeva D., Radice P., Stefansson K., Ramus S.J., Raskin L., Rennert G., Rennert H.S., van Rensburg E.J., Riggan M.J., Risch H.A., Risch A., Roobol M.J., Rosenstein B.S., Rossing M.A., De Ruyck K., Saloustros E., Sandler D.P., Sawyer E.J., Schabath M.B., Schleutker J., Schmidt M.K., Setiawan V.W., Shen H., Siegel E.M., Sieh W., Singer C.F., Slattery M.L., Sorensen K.D., Southey M.C., Spurdle A.B., Stanford J.L., Stevens V.L., Stintzing S., Stone J., Sundfeldt K., Sutphen R., Swerdlow A.J., Tajara E.H., Tangen C.M., Fletcher O., Tardon A., Taylor J.A., Teare M.D., Teixeira M.R., Terry M.B., Terry K.L., Thibodeau S.N., Thomassen M., Bjorge L., Tischkowitz M., Toland A.E., Torres D., Townsend P.A., Travis R.C., Tung N., Tworoger S.S., Ulrich C.M., Usmani N., Vachon C.M., Van Nieuwenhuysen E., Vega A., Aguado-Barrera M.E., Wang Q., Webb P.M., Weinberg C.R., Weinstein S., Weissler M.C., Weitzel J.N., West C.M.L., White E., Whittemore A.S., Wichmann H.-E., Wiklund F., Winqvist R., Wolk A., Woll P., Woods M., Wu A.H., Wu X., Yannoukakos D., Zheng W., Zienolddiny S., Ziogas A., Zorn K.K., Lane J.M., Saxena R., Thomas D., Hung R.J., Diergaarde B., McKay J., Peters U., Hsu L., Garcia-Closas M., Eeles R.A., Chenevix-Trench G., Brennan P.J., Haiman C.A., Simard J., Easton D.F., Gruber S.B., Pharoah P.D.P., Price A.L., Pasaniuc B., Amos C.I., Kraft P., Lindstrom S., Chen C., Anton-Culver H., Antoniou A.C., Antonenkova N.N., Arnold S.M., Jiang X., Finucane H.K., Schumacher F.R., Schmit S.L., Tyrer J.P., Han Y., Michailidou K., Lesseur C., Kuchenbaecker K.B., Dennis J., Conti D.V., Casey G., Gaudet M.M., Huyghe J.R., Albanes D., Aldrich M.C., Andrew A.S., Andrulis I.L., Aronson K.J., Arun B.K., Bandera E.V., Barkardottir R.B., Barnes D.R., Batra J., Beckmann M.W., Benitez J., Benlloch S., Berchuck A., Berndt S.I., Bickeboller H., Bien S.A., Blomqvist C., Boccia S., Bogdanova N.V., Bojesen S.E., Bolla M.K., Brauch H., Brenner H., Brenton J.D., Brook M.N., Brunet J., Brunnstrom H., Buchanan D.D., Burwinkel B., Butzow R., Cadoni G., Caldes T., Caligo M.A., Campbell I., Campbell P.T., Cancel-Tassin G., Cannon-Albright L., Campa D., Caporaso N., Carvalho A.L., Chan A.T., Chang-Claude J., Chanock S.J., Christiani D.C., Claes K.B.M., Claessens F., Clements J., Collee J.M., Correa M.C., Couch F.J., Cox A., Cunningham J.M., Cybulski C., Czene K., Daly M.B., deFazio A., Devilee P., Diez O., Gago-Dominguez M., Donovan J.L., Dork T., Duell E.J., Dunning A.M., Dwek M., Eccles D.M., Edlund C.K., Edwards D.R.V., Ellberg C., Evans D.G., Fasching P.A., Ferris R.L., Liloglou T., Figueiredo J.C., Fortner R.T., Fostira F., Franceschi S., Friedman E., Gallinger S.J., Ganz P.A., Garber J., Garcia-Saenz J.A., Gayther S.A., Giles G.G., Godwin A.K., Goldberg M.S., Goldgar D.E., Goode E.L., Goodman M.T., Goodman G., Grankvist K., Greene M.H., Gronberg H., Gronwald J., Guenel P., Hakansson N., Hall P., Hamann U., Hamdy F.C., Hamilton R.J., Hampe J., Haugen A., Heitz F., Herrero R., Hillemanns P., Hoffmeister M., Hogdall E., Hong Y.-C., Hopper J.L., Houlston R., Hulick P.J., Hunter D.J., Huntsman D.G., Idos G., Imyanitov E.N., Ingles S.A., Isaacs C., Jakubowska A., James P., Jenkins M.A., Johansson M., John E.M., Joshi A.D., Kaneva R., Karlan B.Y., Kelemen L.E., Kuhl T., Khaw K.-T., Khusnutdinova E., Kibel A.S., Kiemeney L.A., Kim J., Kjaer S.K., Knight J.A., Kogevinas M., Kote-Jarai Z., Koutros S., Kristensen V.N., Kupryjanczyk J., Lacko M., Lam S., Lambrechts D., Landi M.T., Lazarus P., Le N.D., Lee E., Lejbkowicz F., Lenz H.-J., Leslie G., Lessel D., Lester J., Levine D.A., Li L., Li C.I., Lindblom A., Lindor N.M., Liu G., Loupakis F., Lubinski J., Maehle L., Maier C., Mannermaa A., Marchand L.L., Margolin S., May T., McGuffog L., Meindl A., Middha P., Miller A., Milne R.L., MacInnis R.J., Modugno F., Montagna M., Moreno V., Moysich K.B., Mucci L., Muir K., Mulligan A.M., Nathanson K.L., Neal D.E., Ness A.R., Neuhausen S.L., Nevanlinna H., Newcomb P.A., Newcomb L.F., Nielsen F.C., Nikitina-Zake L., Nordestgaard B.G., Nussbaum R.L., Offit K., Olah E., Olama A.A.A., Olopade O.I., Olshan A.F., Olsson H., Osorio A., Pandha H., Park J.Y., Pashayan N., Parsons M.T., Pejovic T., Penney K.L., Peters W.H.M., Phelan C.M., Phipps A.I., Plaseska-Karanfilska D., Pring M., Prokofyeva D., Radice P., Stefansson K., Ramus S.J., Raskin L., Rennert G., Rennert H.S., van Rensburg E.J., Riggan M.J., Risch H.A., Risch A., Roobol M.J., Rosenstein B.S., Rossing M.A., De Ruyck K., Saloustros E., Sandler D.P., Sawyer E.J., Schabath M.B., Schleutker J., Schmidt M.K., Setiawan V.W., Shen H., Siegel E.M., Sieh W., Singer C.F., Slattery M.L., Sorensen K.D., Southey M.C., Spurdle A.B., Stanford J.L., Stevens V.L., Stintzing S., Stone J., Sundfeldt K., Sutphen R., Swerdlow A.J., Tajara E.H., and Tangen C.M.
Abstract: Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total of 296,215 cases and 301,319 controls of European ancestry, here we estimate the pair-wise genetic correlations between breast, colorectal, head/neck, lung, ovary and prostate cancer, and between cancers and 38 other diseases. We observed statistically significant genetic correlations between lung and head/neck cancer (rg = 0.57, p = 4.6 x 10-8), breast and ovarian cancer (rg = 0.24, p = 7 x 10-5), breast and lung cancer (rg = 0.18, p =1.5 x 10-6) and breast and colorectal cancer (rg = 0.15, p = 1.1 x 10-4). We also found that multiple cancers are genetically correlated with non-cancer traits including smoking, psychiatric diseases and metabolic characteristics. Functional enrichment analysis revealed a significant excess contribution of conserved and regulatory regions to cancer heritability. Our comprehensive analysis of cross-cancer heritability suggests that solid tumors arising across tissues share in part a common germline genetic basis.Copyright © 2019, The Author(s).
Published: 2019

23. Publisher Correction: Shared heritability and functional enrichment across six solid cancers (Nature Communications, (2019), 10, 1, (431), 10.1038/s41467-018-08054-4).

Author: Tangen C.M., Wu X., Yannoukakos D., Zheng W., Zienolddiny S., Ziogas A., Zorn K.K., Lane J.M., Saxena R., Thomas D., Hung R.J., Diergaarde B., McKay J., Peters U., Hsu L., Garcia-Closas M., Eeles R.A., Chenevix-Trench G., Brennan P.J., Haiman C.A., Simard J., Easton D.F., Gruber S.B., Pharoah P.D.P., Price A.L., Pasaniuc B., Amos C.I., Kraft P., Lindstrom S., Chen C., Jiang X., Finucane H.K., Schumacher F.R., Schmit S.L., Tyrer J.P., Han Y., Michailidou K., Lesseur C., Kuchenbaecker K.B., Dennis J., Conti D.V., Casey G., Gaudet M.M., Huyghe J.R., Albanes D., Aldrich M.C., Andrew A.S., Andrulis I.L., Anton-Culver H., Antoniou A.C., Antonenkova N.N., Arnold S.M., Aronson K.J., Arun B.K., Bandera E.V., Barkardottir R.B., Barnes D.R., Batra J., Beckmann M.W., Benitez J., Benlloch S., Berchuck A., Berndt S.I., Bickeboller H., Bien S.A., Blomqvist C., Boccia S., Bogdanova N.V., Bojesen S.E., Bolla M.K., Brauch H., Brenner H., Brenton J.D., Brook M.N., Brunet J., Brunnstrom H., Buchanan D.D., Burwinkel B., Butzow R., Cadoni G., Caldes T., Caligo M.A., Campbell I., Campbell P.T., Cancel-Tassin G., Cannon-Albright L., Campa D., Caporaso N., Carvalho A.L., Chan A.T., Chang-Claude J., Chanock S.J., Christiani D.C., Claes K.B.M., Claessens F., Clements J., Collee J.M., Correa M.C., Couch F.J., Cox A., Cunningham J.M., Cybulski C., Czene K., Daly M.B., deFazio A., Devilee P., Diez O., Gago-Dominguez M., Donovan J.L., Dork T., Duell E.J., Dunning A.M., Dwek M., Eccles D.M., Edlund C.K., Edwards D.R.V., Ellberg C., Evans D.G., Fasching P.A., Ferris R.L., Liloglou T., Figueiredo J.C., Fletcher O., Fortner R.T., Fostira F., Franceschi S., Friedman E., Gallinger S.J., Ganz P.A., Garber J., Garcia-Saenz J.A., Gayther S.A., Giles G.G., Godwin A.K., Goldberg M.S., Goldgar D.E., Goode E.L., Goodman M.T., Goodman G., Grankvist K., Greene M.H., Gronberg H., Gronwald J., Guenel P., Hakansson N., Hall P., Hamann U., Hamdy F.C., Hamilton R.J., Hampe J., Haugen A., Heitz F., Herrero R., Hillemanns P., Hoffmeister M., Hogdall E., Hong Y.-C., Hopper J.L., Houlston R., Hulick P.J., Hunter D.J., Huntsman D.G., Idos G., Imyanitov E.N., Ingles S.A., Isaacs C., Jakubowska A., James P., Jenkins M.A., Johansson M., John E.M., Joshi A.D., Kaneva R., Karlan B.Y., Kelemen L.E., Kuhl T., Khaw K.-T., Khusnutdinova E., Kibel A.S., Kiemeney L.A., Kim J., Kjaer S.K., Knight J.A., Kogevinas M., Kote-Jarai Z., Koutros S., Kristensen V.N., Kupryjanczyk J., Lacko M., Lam S., Lambrechts D., Landi M.T., Lazarus P., Le N.D., Lee E., Lejbkowicz F., Lenz H.-J., Leslie G., Lessel D., Lester J., Levine D.A., Li L., Li C.I., Lindblom A., Lindor N.M., Liu G., Loupakis F., Lubinski J., Maehle L., Maier C., Mannermaa A., Marchand L.L., Margolin S., May T., McGuffog L., Meindl A., Middha P., Miller A., Milne R.L., MacInnis R.J., Modugno F., Montagna M., Moreno V., Moysich K.B., Mucci L., Muir K., Mulligan A.M., Nathanson K.L., Neal D.E., Ness A.R., Neuhausen S.L., Nevanlinna H., Newcomb P.A., Newcomb L.F., Nielsen F.C., Nikitina-Zake L., Nordestgaard B.G., Nussbaum R.L., Offit K., Olah E., Olama A.A.A., Olopade O.I., Olshan A.F., Olsson H., Osorio A., Pandha H., Park J.Y., Pashayan N., Parsons M.T., Pejovic T., Penney K.L., Peters W.H.M., Phelan C.M., Phipps A.I., Plaseska-Karanfilska D., Pring M., Prokofyeva D., Radice P., Stefansson K., Ramus S.J., Raskin L., Rennert G., Rennert H.S., van Rensburg E.J., Riggan M.J., Risch H.A., Risch A., Roobol M.J., Rosenstein B.S., Rossing M.A., De Ruyck K., Saloustros E., Sandler D.P., Sawyer E.J., Schabath M.B., Schleutker J., Schmidt M.K., Setiawan V.W., Shen H., Siegel E.M., Sieh W., Singer C.F., Slattery M.L., Sorensen K.D., Southey M.C., Spurdle A.B., Stanford J.L., Stevens V.L., Stintzing S., Stone J., Sundfeldt K., Sutphen R., Swerdlow A.J., Tajara E.H., Tardon A., Taylor J.A., Teare M.D., Teixeira M.R., Terry M.B., Terry K.L., Thibodeau S.N., Thomassen M., Bjorge L., Tischkowitz M., Toland A.E., Torres D., Townsend P.A., Travis R.C., Tung N., Tworoger S.S., Ulrich C.M., Usmani N., Vachon C.M., Van Nieuwenhuysen E., Vega A., Aguado-Barrera M.E., Wang Q., Webb P.M., Weinberg C.R., Weinstein S., Weissler M.C., Weitzel J.N., West C.M.L., White E., Whittemore A.S., Wichmann H.-E., Wiklund F., Winqvist R., Wolk A., Woll P., Woods M., Wu A.H., Tangen C.M., Wu X., Yannoukakos D., Zheng W., Zienolddiny S., Ziogas A., Zorn K.K., Lane J.M., Saxena R., Thomas D., Hung R.J., Diergaarde B., McKay J., Peters U., Hsu L., Garcia-Closas M., Eeles R.A., Chenevix-Trench G., Brennan P.J., Haiman C.A., Simard J., Easton D.F., Gruber S.B., Pharoah P.D.P., Price A.L., Pasaniuc B., Amos C.I., Kraft P., Lindstrom S., Chen C., Jiang X., Finucane H.K., Schumacher F.R., Schmit S.L., Tyrer J.P., Han Y., Michailidou K., Lesseur C., Kuchenbaecker K.B., Dennis J., Conti D.V., Casey G., Gaudet M.M., Huyghe J.R., Albanes D., Aldrich M.C., Andrew A.S., Andrulis I.L., Anton-Culver H., Antoniou A.C., Antonenkova N.N., Arnold S.M., Aronson K.J., Arun B.K., Bandera E.V., Barkardottir R.B., Barnes D.R., Batra J., Beckmann M.W., Benitez J., Benlloch S., Berchuck A., Berndt S.I., Bickeboller H., Bien S.A., Blomqvist C., Boccia S., Bogdanova N.V., Bojesen S.E., Bolla M.K., Brauch H., Brenner H., Brenton J.D., Brook M.N., Brunet J., Brunnstrom H., Buchanan D.D., Burwinkel B., Butzow R., Cadoni G., Caldes T., Caligo M.A., Campbell I., Campbell P.T., Cancel-Tassin G., Cannon-Albright L., Campa D., Caporaso N., Carvalho A.L., Chan A.T., Chang-Claude J., Chanock S.J., Christiani D.C., Claes K.B.M., Claessens F., Clements J., Collee J.M., Correa M.C., Couch F.J., Cox A., Cunningham J.M., Cybulski C., Czene K., Daly M.B., deFazio A., Devilee P., Diez O., Gago-Dominguez M., Donovan J.L., Dork T., Duell E.J., Dunning A.M., Dwek M., Eccles D.M., Edlund C.K., Edwards D.R.V., Ellberg C., Evans D.G., Fasching P.A., Ferris R.L., Liloglou T., Figueiredo J.C., Fletcher O., Fortner R.T., Fostira F., Franceschi S., Friedman E., Gallinger S.J., Ganz P.A., Garber J., Garcia-Saenz J.A., Gayther S.A., Giles G.G., Godwin A.K., Goldberg M.S., Goldgar D.E., Goode E.L., Goodman M.T., Goodman G., Grankvist K., Greene M.H., Gronberg H., Gronwald J., Guenel P., Hakansson N., Hall P., Hamann U., Hamdy F.C., Hamilton R.J., Hampe J., Haugen A., Heitz F., Herrero R., Hillemanns P., Hoffmeister M., Hogdall E., Hong Y.-C., Hopper J.L., Houlston R., Hulick P.J., Hunter D.J., Huntsman D.G., Idos G., Imyanitov E.N., Ingles S.A., Isaacs C., Jakubowska A., James P., Jenkins M.A., Johansson M., John E.M., Joshi A.D., Kaneva R., Karlan B.Y., Kelemen L.E., Kuhl T., Khaw K.-T., Khusnutdinova E., Kibel A.S., Kiemeney L.A., Kim J., Kjaer S.K., Knight J.A., Kogevinas M., Kote-Jarai Z., Koutros S., Kristensen V.N., Kupryjanczyk J., Lacko M., Lam S., Lambrechts D., Landi M.T., Lazarus P., Le N.D., Lee E., Lejbkowicz F., Lenz H.-J., Leslie G., Lessel D., Lester J., Levine D.A., Li L., Li C.I., Lindblom A., Lindor N.M., Liu G., Loupakis F., Lubinski J., Maehle L., Maier C., Mannermaa A., Marchand L.L., Margolin S., May T., McGuffog L., Meindl A., Middha P., Miller A., Milne R.L., MacInnis R.J., Modugno F., Montagna M., Moreno V., Moysich K.B., Mucci L., Muir K., Mulligan A.M., Nathanson K.L., Neal D.E., Ness A.R., Neuhausen S.L., Nevanlinna H., Newcomb P.A., Newcomb L.F., Nielsen F.C., Nikitina-Zake L., Nordestgaard B.G., Nussbaum R.L., Offit K., Olah E., Olama A.A.A., Olopade O.I., Olshan A.F., Olsson H., Osorio A., Pandha H., Park J.Y., Pashayan N., Parsons M.T., Pejovic T., Penney K.L., Peters W.H.M., Phelan C.M., Phipps A.I., Plaseska-Karanfilska D., Pring M., Prokofyeva D., Radice P., Stefansson K., Ramus S.J., Raskin L., Rennert G., Rennert H.S., van Rensburg E.J., Riggan M.J., Risch H.A., Risch A., Roobol M.J., Rosenstein B.S., Rossing M.A., De Ruyck K., Saloustros E., Sandler D.P., Sawyer E.J., Schabath M.B., Schleutker J., Schmidt M.K., Setiawan V.W., Shen H., Siegel E.M., Sieh W., Singer C.F., Slattery M.L., Sorensen K.D., Southey M.C., Spurdle A.B., Stanford J.L., Stevens V.L., Stintzing S., Stone J., Sundfeldt K., Sutphen R., Swerdlow A.J., Tajara E.H., Tardon A., Taylor J.A., Teare M.D., Teixeira M.R., Terry M.B., Terry K.L., Thibodeau S.N., Thomassen M., Bjorge L., Tischkowitz M., Toland A.E., Torres D., Townsend P.A., Travis R.C., Tung N., Tworoger S.S., Ulrich C.M., Usmani N., Vachon C.M., Van Nieuwenhuysen E., Vega A., Aguado-Barrera M.E., Wang Q., Webb P.M., Weinberg C.R., Weinstein S., Weissler M.C., Weitzel J.N., West C.M.L., White E., Whittemore A.S., Wichmann H.-E., Wiklund F., Winqvist R., Wolk A., Woll P., Woods M., and Wu A.H.
Abstract: An amendment to this paper has been published and can be accessed via a link at the top of the paper.Copyright © 2019, The Author(s).
Published: 2019

24. Erratum to: Germline variation at 8q24 and prostate cancer risk in men of European ancestry (Nature Communications, (2018), 9, 1, (4616), 10.1038/s41467-018-06863-1).

Author: Wang G., Lessel D., Kaneva R., Usmani N., Kastelan Z., Slavov C., Popov E., Van den Broeck T., Joniau S., Larkin S., Castelao J.E., Martinez M.E., van Schaik R.H.N., Xu J., Lindstrom S., Riboli E., Berry C., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Freedman M., Cenee S., Sanchez M., Wiklund F., Chanock S.J., Easton D.F., Eeles R.A., Kote-Jarai Z., Conti D.V., Haiman C.A., Hutchinson A., Ling J., Papargiris M., Matejcic M., Saunders E.J., Dadaev T., Brook M.N., Wang K., Sheng X., Olama A.A.A., Schumacher F.R., Ingles S.A., Govindasami K., Benlloch S., Berndt S.I., Albanes D., Koutros S., Muir K., Stevens V.L., Gapstur S.M., Tangen C.M., Batra J., Clements J., Gronberg H., Pashayan N., Schleutker J., Wolk A., West C., Mucci L., Kraft P., Cancel-Tassin G., Sorensen K.D., Maehle L., Grindedal E.M., Strom S.S., Neal D.E., Hamdy F.C., Donovan J.L., Travis R.C., Hamilton R.J., Rosenstein B., Lu Y.-J., Giles G.G., Kibel A.S., Vega A., Bensen J.T., Kogevinas M., Penney K.L., Park J.Y., Stanford J.L., Cybulski C., Nordestgaard B.G., Brenner H., Maier C., Kim J., Teixeira M.R., Neuhausen S.L., De Ruyck K., Razack A., Newcomb L.F., Claessens F., Townsend P.A., Gago-Dominguez M., Roobol M.J., Menegaux F., Khaw K.-T., Cannon-Albright L.A., Pandha H., Thibodeau S.N., Schaid D.J., Henderson B.E., Stern M.C., Thwaites A., Guy M., Whitmore I., Morgan A., Fisher C., Hazel S., Livni N., Cook M., Fachal L., Weinstein S., Beane Freeman L.E., Hoover R.N., Machiela M.J., Lophatananon A., Carter B.D., Goodman P., Moya L., Srinivasan S., Kedda M.-A., Yeadon T., Eckert A., Eklund M., Cavalli-Bjoerkman C., Dunning A.M., Sipeky C., Hakansson N., Elliott R., Ranu H., Giovannucci E., Turman C., Hunter D.J., Cussenot O., Orntoft T.F., Lane A., Lewis S.J., Davis M., Key T.J., Brown P., Kulkarni G.S., Zlotta A.R., Fleshner N.E., Finelli A., Mao X., Marzec J., MacInnis R.J., Milne R., Hopper J.L., Aguado M., Bustamante M., Castano-Vinyals G., Gracia-Lavedan E., Cecchini L., Stampfer M., Ma J., Sellers T.A., Geybels M.S., Park H., Zachariah B., Kolb S., Wokolorczyk D., Lubinski J., Kluzniak W., Nielsen S.F., Weisher M., Cuk K., Vogel W., Luedeke M., Logothetis C.J., Paulo P., Cardoso M., Maia S., Silva M.P., Steele L., Ding Y.C., De Meerleer G., De Langhe S., Thierens H., Lim J., Tan M.H., Ong A.T., Lin D.W., Kachakova D., Mitkova A., Mitev V., Parliament M., Jenster G., Bangma C., Schroder F.H., Truong T., Koudou Y.A., Michael A., Kierzek A., Karlsson A., Broms M., Wu H., Aukim-Hastie C., Tillmans L., Riska S., McDonnell S.K., Dearnaley D., Spurdle A., Gardiner R., Hayes V., Butler L., Taylor R., Saunders P., Kujala P., Talala K., Taari K., Bentzen S., Hicks B., Vogt A., Cox A., George A., Toi A., Evans A., van der Kwast T.H., Imai T., Saito S., Zhao S.-C., Ren G., Zhang Y., Yu Y., Wu Y., Wu J., Zhou B., Pedersen J., Lobato-Busto R., Ruiz-Dominguez J.M., Mengual L., Alcaraz A., Pow-Sang J., Herkommer K., Vlahova A., Dikov T., Christova S., Carracedo A., Tretarre B., Rebillard X., Mulot C., Adolfsson J., Stattin P., Johansson J.-E., Martin R.M., Thompson I.M., Chambers S., Aitken J., Horvath L., Haynes A.-M., Tilley W., Risbridger G., Aly M., Nordstrom T., Pharoah P., Tammela T.L.J., Murtola T., Auvinen A., Burnet N., Barnett G., Andriole G., Klim A., Drake B.F., Borre M., Kerns S., Ostrer H., Zhang H.-W., Cao G., Lin J., Li M., Feng N., Li J., He W., Guo X., Sun Z., Guo J., Southey M.C., FitzGerald L.M., Marsden G., Gomez-Caamano A., Carballo A., Peleteiro P., Calvo P., Szulkin R., Llorca J., Dierssen-Sotos T., Gomez-Acebo I., Lin H.-Y., Ostrander E.A., Bisbjerg R., Klarskov P., Roder M.A., Iversen P., Holleczek B., Stegmaier C., Schnoeller T., Bohnert P., John E.M., Ost P., Teo S.-H., Gamulin M., Kulis T., Wang G., Lessel D., Kaneva R., Usmani N., Kastelan Z., Slavov C., Popov E., Van den Broeck T., Joniau S., Larkin S., Castelao J.E., Martinez M.E., van Schaik R.H.N., Xu J., Lindstrom S., Riboli E., Berry C., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Freedman M., Cenee S., Sanchez M., Wiklund F., Chanock S.J., Easton D.F., Eeles R.A., Kote-Jarai Z., Conti D.V., Haiman C.A., Hutchinson A., Ling J., Papargiris M., Matejcic M., Saunders E.J., Dadaev T., Brook M.N., Wang K., Sheng X., Olama A.A.A., Schumacher F.R., Ingles S.A., Govindasami K., Benlloch S., Berndt S.I., Albanes D., Koutros S., Muir K., Stevens V.L., Gapstur S.M., Tangen C.M., Batra J., Clements J., Gronberg H., Pashayan N., Schleutker J., Wolk A., West C., Mucci L., Kraft P., Cancel-Tassin G., Sorensen K.D., Maehle L., Grindedal E.M., Strom S.S., Neal D.E., Hamdy F.C., Donovan J.L., Travis R.C., Hamilton R.J., Rosenstein B., Lu Y.-J., Giles G.G., Kibel A.S., Vega A., Bensen J.T., Kogevinas M., Penney K.L., Park J.Y., Stanford J.L., Cybulski C., Nordestgaard B.G., Brenner H., Maier C., Kim J., Teixeira M.R., Neuhausen S.L., De Ruyck K., Razack A., Newcomb L.F., Claessens F., Townsend P.A., Gago-Dominguez M., Roobol M.J., Menegaux F., Khaw K.-T., Cannon-Albright L.A., Pandha H., Thibodeau S.N., Schaid D.J., Henderson B.E., Stern M.C., Thwaites A., Guy M., Whitmore I., Morgan A., Fisher C., Hazel S., Livni N., Cook M., Fachal L., Weinstein S., Beane Freeman L.E., Hoover R.N., Machiela M.J., Lophatananon A., Carter B.D., Goodman P., Moya L., Srinivasan S., Kedda M.-A., Yeadon T., Eckert A., Eklund M., Cavalli-Bjoerkman C., Dunning A.M., Sipeky C., Hakansson N., Elliott R., Ranu H., Giovannucci E., Turman C., Hunter D.J., Cussenot O., Orntoft T.F., Lane A., Lewis S.J., Davis M., Key T.J., Brown P., Kulkarni G.S., Zlotta A.R., Fleshner N.E., Finelli A., Mao X., Marzec J., MacInnis R.J., Milne R., Hopper J.L., Aguado M., Bustamante M., Castano-Vinyals G., Gracia-Lavedan E., Cecchini L., Stampfer M., Ma J., Sellers T.A., Geybels M.S., Park H., Zachariah B., Kolb S., Wokolorczyk D., Lubinski J., Kluzniak W., Nielsen S.F., Weisher M., Cuk K., Vogel W., Luedeke M., Logothetis C.J., Paulo P., Cardoso M., Maia S., Silva M.P., Steele L., Ding Y.C., De Meerleer G., De Langhe S., Thierens H., Lim J., Tan M.H., Ong A.T., Lin D.W., Kachakova D., Mitkova A., Mitev V., Parliament M., Jenster G., Bangma C., Schroder F.H., Truong T., Koudou Y.A., Michael A., Kierzek A., Karlsson A., Broms M., Wu H., Aukim-Hastie C., Tillmans L., Riska S., McDonnell S.K., Dearnaley D., Spurdle A., Gardiner R., Hayes V., Butler L., Taylor R., Saunders P., Kujala P., Talala K., Taari K., Bentzen S., Hicks B., Vogt A., Cox A., George A., Toi A., Evans A., van der Kwast T.H., Imai T., Saito S., Zhao S.-C., Ren G., Zhang Y., Yu Y., Wu Y., Wu J., Zhou B., Pedersen J., Lobato-Busto R., Ruiz-Dominguez J.M., Mengual L., Alcaraz A., Pow-Sang J., Herkommer K., Vlahova A., Dikov T., Christova S., Carracedo A., Tretarre B., Rebillard X., Mulot C., Adolfsson J., Stattin P., Johansson J.-E., Martin R.M., Thompson I.M., Chambers S., Aitken J., Horvath L., Haynes A.-M., Tilley W., Risbridger G., Aly M., Nordstrom T., Pharoah P., Tammela T.L.J., Murtola T., Auvinen A., Burnet N., Barnett G., Andriole G., Klim A., Drake B.F., Borre M., Kerns S., Ostrer H., Zhang H.-W., Cao G., Lin J., Li M., Feng N., Li J., He W., Guo X., Sun Z., Guo J., Southey M.C., FitzGerald L.M., Marsden G., Gomez-Caamano A., Carballo A., Peleteiro P., Calvo P., Szulkin R., Llorca J., Dierssen-Sotos T., Gomez-Acebo I., Lin H.-Y., Ostrander E.A., Bisbjerg R., Klarskov P., Roder M.A., Iversen P., Holleczek B., Stegmaier C., Schnoeller T., Bohnert P., John E.M., Ost P., Teo S.-H., Gamulin M., and Kulis T.
Abstract: The original version of this Article contained an error in the spelling of the author Manuela Gago-Dominguez, which was incorrectly given as Manuela G. Dominguez. This has now been corrected in both the PDF and HTML versions of the Article.Copyright © 2019, The Author(s).
Published: 2019

25. Author Correction: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci (Nature Genetics, (2018), 50, 7, (928-936), 10.1038/s41588-018-0142-8).

Author: Truong T., Khaw K.-T., Cannon-Albright L., Pandha H., Michael A., Thibodeau S.N., McDonnell S.K., Schaid D.J., Lindstrom S., Turman C., Ma J., Hunter D.J., Riboli E., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Hoover R.N., Machiela M.J., Cui Z., Kraft P., Amos C.I., Conti D.V., Easton D.F., Wiklund F., Chanock S.J., Henderson B.E., Kote-Jarai Z., Haiman C.A., Eeles R.A., Schumacher F.R., Olama A.A.A., Berndt S.I., Benlloch S., Ahmed M., Saunders E.J., Dadaev T., Leongamornlert D., Anokian E., Cieza-Borrella C., Goh C., Brook M.N., Sheng X., Fachal L., Dennis J., Tyrer J., Muir K., Lophatananon A., Stevens V.L., Gapstur S.M., Carter B.D., Tangen C.M., Goodman P.J., Thompson I.M., Batra J., Chambers S., Moya L., Clements J., Horvath L., Tilley W., Risbridger G.P., Gronberg H., Aly M., Nordstrom T., Pharoah P., Pashayan N., Schleutker J., Tammela T.L.J., Sipeky C., Auvinen A., Albanes D., Weinstein S., Wolk A., Hakansson N., West C.M.L., Dunning A.M., Burnet N., Mucci L.A., Giovannucci E., Andriole G.L., Cussenot O., Cancel-Tassin G., Koutros S., Beane Freeman L.E., Sorensen K.D., Orntoft T.F., Borre M., Maehle L., Grindedal E.M., Neal D.E., Donovan J.L., Hamdy F.C., Martin R.M., Travis R.C., Key T.J., Hamilton R.J., Fleshner N.E., Finelli A., Ingles S.A., Stern M.C., Rosenstein B.S., Kerns S.L., Ostrer H., Lu Y.-J., Zhang H.-W., Feng N., Mao X., Guo X., Wang G., Sun Z., Giles G.G., Southey M.C., MacInnis R.J., FitzGerald L.M., Kibel A.S., Drake B.F., Vega A., Gomez-Caamano A., Szulkin R., Eklund M., Kogevinas M., Llorca J., Castano-Vinyals G., Penney K.L., Stampfer M., Park J.Y., Sellers T.A., Lin H.-Y., Stanford J.L., Cybulski C., Wokolorczyk D., Lubinski J., Ostrander E.A., Geybels M.S., Nordestgaard B.G., Nielsen S.F., Weischer M., Bisbjerg R., Roder M.A., Iversen P., Brenner H., Cuk K., Holleczek B., Maier C., Luedeke M., Schnoeller T., Kim J., Logothetis C.J., John E.M., Teixeira M.R., Paulo P., Cardoso M., Neuhausen S.L., Steele L., Ding Y.C., De Ruyck K., De Meerleer G., Ost P., Razack A., Lim J., Teo S.-H., Lin D.W., Newcomb L.F., Lessel D., Gamulin M., Kulis T., Kaneva R., Usmani N., Singhal S., Slavov C., Mitev V., Parliament M., Claessens F., Joniau S., Van den Broeck T., Larkin S., Townsend P.A., Aukim-Hastie C., Gago-Dominguez M., Castelao J.E., Martinez M.E., Roobol M.J., Jenster G., van Schaik R.H.N., Menegaux F., Koudou Y.A., Xu J., Truong T., Khaw K.-T., Cannon-Albright L., Pandha H., Michael A., Thibodeau S.N., McDonnell S.K., Schaid D.J., Lindstrom S., Turman C., Ma J., Hunter D.J., Riboli E., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Hoover R.N., Machiela M.J., Cui Z., Kraft P., Amos C.I., Conti D.V., Easton D.F., Wiklund F., Chanock S.J., Henderson B.E., Kote-Jarai Z., Haiman C.A., Eeles R.A., Schumacher F.R., Olama A.A.A., Berndt S.I., Benlloch S., Ahmed M., Saunders E.J., Dadaev T., Leongamornlert D., Anokian E., Cieza-Borrella C., Goh C., Brook M.N., Sheng X., Fachal L., Dennis J., Tyrer J., Muir K., Lophatananon A., Stevens V.L., Gapstur S.M., Carter B.D., Tangen C.M., Goodman P.J., Thompson I.M., Batra J., Chambers S., Moya L., Clements J., Horvath L., Tilley W., Risbridger G.P., Gronberg H., Aly M., Nordstrom T., Pharoah P., Pashayan N., Schleutker J., Tammela T.L.J., Sipeky C., Auvinen A., Albanes D., Weinstein S., Wolk A., Hakansson N., West C.M.L., Dunning A.M., Burnet N., Mucci L.A., Giovannucci E., Andriole G.L., Cussenot O., Cancel-Tassin G., Koutros S., Beane Freeman L.E., Sorensen K.D., Orntoft T.F., Borre M., Maehle L., Grindedal E.M., Neal D.E., Donovan J.L., Hamdy F.C., Martin R.M., Travis R.C., Key T.J., Hamilton R.J., Fleshner N.E., Finelli A., Ingles S.A., Stern M.C., Rosenstein B.S., Kerns S.L., Ostrer H., Lu Y.-J., Zhang H.-W., Feng N., Mao X., Guo X., Wang G., Sun Z., Giles G.G., Southey M.C., MacInnis R.J., FitzGerald L.M., Kibel A.S., Drake B.F., Vega A., Gomez-Caamano A., Szulkin R., Eklund M., Kogevinas M., Llorca J., Castano-Vinyals G., Penney K.L., Stampfer M., Park J.Y., Sellers T.A., Lin H.-Y., Stanford J.L., Cybulski C., Wokolorczyk D., Lubinski J., Ostrander E.A., Geybels M.S., Nordestgaard B.G., Nielsen S.F., Weischer M., Bisbjerg R., Roder M.A., Iversen P., Brenner H., Cuk K., Holleczek B., Maier C., Luedeke M., Schnoeller T., Kim J., Logothetis C.J., John E.M., Teixeira M.R., Paulo P., Cardoso M., Neuhausen S.L., Steele L., Ding Y.C., De Ruyck K., De Meerleer G., Ost P., Razack A., Lim J., Teo S.-H., Lin D.W., Newcomb L.F., Lessel D., Gamulin M., Kulis T., Kaneva R., Usmani N., Singhal S., Slavov C., Mitev V., Parliament M., Claessens F., Joniau S., Van den Broeck T., Larkin S., Townsend P.A., Aukim-Hastie C., Gago-Dominguez M., Castelao J.E., Martinez M.E., Roobol M.J., Jenster G., van Schaik R.H.N., Menegaux F., Koudou Y.A., and Xu J.
Abstract: In the version of this article initially published, the name of author Manuela Gago-Dominguez was misspelled as Manuela Gago Dominguez. The error has been corrected in the HTML and PDF version of the article.Copyright © 2018, The Author(s), under exclusive licence to Springer Nature America, Inc.
Published: 2019

26. Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers.

Author: Teixeira M.R., Rhiem K., Izatt L., Tripathi V., Cardoso M., Foulkes W.D., Aprikian A., van Randeraad H., Davidson R., Longmuir M., Ruijs M.W.G., Adank M., Williams R., Andrews L., Murphy D.G., Halliday D., Walker L., Liljegren A., Carlsson S., Azzabi A., Jobson I., Morton C., Shackleton K., Snape K., Hanson H., Harris M., Tischkowitz M., Taylor A., Kirk J., Susman R., Chen-Shtoyerman R., Spigelman A., Pachter N., Ahmed M., Ramon y Cajal T., Zgajnar J., Brewer C., Gadea N., Brady A.F., van Os T., Gallagher D., Johannsson O., Donaldson A., Barwell J., Nicolai N., Friedman E., Obeid E., Greenhalgh L., Murthy V., Copakova L., Saya S., McGrath J., Cooke P., Ronlund K., Richardson K., Henderson A., Teo S.H., Arun B., Kast K., Dias A., Aaronson N.K., Ardern-Jones A., Bangma C.H., Castro E., Dearnaley D., Eccles D.M., Tricker K., Eyfjord J., Falconer A., Foster C., Gronberg H., Hamdy F.C., Stefansdottir V., Khoo V., Lindeman G.J., Lubinski J., Axcrona K., Mikropoulos C., Mitra A., Moynihan C., Rennert G., Suri M., Wilson P., Dudderidge T., Offman J., Kote-Jarai Z., Vickers A., Lilja H., Eeles R.A., Helderman van den Enden A.T.J.M., Page E.C., Bancroft E.K., Brook M.N., Assel M., Hassan Al Battat M., Thomas S., Taylor N., Chamberlain A., Pope J., Raghallaigh H.N., Evans D.G., Rothwell J., Maehle L., Grindedal E.M., James P., Mascarenhas L., McKinley J., Side L., Thomas T., van Asperen C., Vasen H., Kiemeney L.A., Ringelberg J., Jensen T.D., Osther P.J.S., Helfand B.T., Genova E., Oldenburg R.A., Cybulski C., Wokolorczyk D., Ong K.-R., Huber C., Lam J., Taylor L., Salinas M., Feliubadalo L., Oosterwijk J.C., van Zelst-Stams W., Cook J., Rosario D.J., Domchek S., Powers J., Buys S., O'Toole K., Ausems M.G.E.M., Schmutzler R.K., Teixeira M.R., Rhiem K., Izatt L., Tripathi V., Cardoso M., Foulkes W.D., Aprikian A., van Randeraad H., Davidson R., Longmuir M., Ruijs M.W.G., Adank M., Williams R., Andrews L., Murphy D.G., Halliday D., Walker L., Liljegren A., Carlsson S., Azzabi A., Jobson I., Morton C., Shackleton K., Snape K., Hanson H., Harris M., Tischkowitz M., Taylor A., Kirk J., Susman R., Chen-Shtoyerman R., Spigelman A., Pachter N., Ahmed M., Ramon y Cajal T., Zgajnar J., Brewer C., Gadea N., Brady A.F., van Os T., Gallagher D., Johannsson O., Donaldson A., Barwell J., Nicolai N., Friedman E., Obeid E., Greenhalgh L., Murthy V., Copakova L., Saya S., McGrath J., Cooke P., Ronlund K., Richardson K., Henderson A., Teo S.H., Arun B., Kast K., Dias A., Aaronson N.K., Ardern-Jones A., Bangma C.H., Castro E., Dearnaley D., Eccles D.M., Tricker K., Eyfjord J., Falconer A., Foster C., Gronberg H., Hamdy F.C., Stefansdottir V., Khoo V., Lindeman G.J., Lubinski J., Axcrona K., Mikropoulos C., Mitra A., Moynihan C., Rennert G., Suri M., Wilson P., Dudderidge T., Offman J., Kote-Jarai Z., Vickers A., Lilja H., Eeles R.A., Helderman van den Enden A.T.J.M., Page E.C., Bancroft E.K., Brook M.N., Assel M., Hassan Al Battat M., Thomas S., Taylor N., Chamberlain A., Pope J., Raghallaigh H.N., Evans D.G., Rothwell J., Maehle L., Grindedal E.M., James P., Mascarenhas L., McKinley J., Side L., Thomas T., van Asperen C., Vasen H., Kiemeney L.A., Ringelberg J., Jensen T.D., Osther P.J.S., Helfand B.T., Genova E., Oldenburg R.A., Cybulski C., Wokolorczyk D., Ong K.-R., Huber C., Lam J., Taylor L., Salinas M., Feliubadalo L., Oosterwijk J.C., van Zelst-Stams W., Cook J., Rosario D.J., Domchek S., Powers J., Buys S., O'Toole K., Ausems M.G.E.M., and Schmutzler R.K.
Abstract: Background: Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with germline BRCA1/2 mutations. Objective(s): To report the utility of PSA screening, PrCa incidence, positive predictive value of PSA, biopsy, and tumour characteristics after 3 yr of screening, by BRCA status. Design, setting, and participants: Men aged 40-69 yr with a germline pathogenic BRCA1/2 mutation and male controls testing negative for a familial BRCA1/2 mutation were recruited. Participants underwent PSA screening for 3 yr, and if PSA > 3.0 ng/ml, men were offered prostate biopsy. Outcome measurements and statistical analysis: PSA levels, PrCa incidence, and tumour characteristics were evaluated. Statistical analyses included Poisson regression offset by person-year follow-up, chi-square tests for proportion t tests for means, and Kruskal-Wallis for medians. Results and limitations: A total of 3027 patients (2932 unique individuals) were recruited (919 BRCA1 carriers, 709 BRCA1 noncarriers, 902 BRCA2 carriers, and 497 BRCA2 noncarriers). After 3 yr of screening, 527 men had PSA > 3.0 ng/ml, 357 biopsies were performed, and 112 PrCa cases were diagnosed (31 BRCA1 carriers, 19 BRCA1 noncarriers, 47 BRCA2 carriers, and 15 BRCA2 noncarriers). Higher compliance with biopsy was observed in BRCA2 carriers compared with noncarriers (73% vs 60%). Cancer incidence rate per 1000 person years was higher in BRCA2 carriers than in noncarriers (19.4 vs 12.0; p = 0.03); BRCA2 carriers were diagnosed at a younger age (61 vs 64 yr; p = 0.04) and were more likely to have clinically significant disease than BRCA2 noncarriers (77% vs 40%; p = 0.01). No differences in age or tumour characteristics were detected between BRCA1 carriers and BRCA1 noncarriers. The 4 kallikrein marker model discriminated better (area under the curve [AUC] = 0.73) for clinically significant cancer at
Published: 2019

27. Erratum: Publisher Correction: Shared heritability and functional enrichment across six solid cancers (Nature communications (2019) 10 1 (431))

Author: Jiang, X. (Xia), Finucane, H.K. (Hilary K.), Schumacher, F.R. (Fredrick R), Schmit, S.L. (Stephanie L.), Tyrer, J.P. (Jonathan P.), Han, Y. (Younghun), Michailidou, K. (Kyriaki), Lesseur, C. (Corina), Kuchenbaecker, K.B. (Karoline), Dennis, J. (Joe), Conti, G. (Giario), Casey, G. (Graham), Gaudet, M.M. (Mia M.), Huyghe, J.R. (Jeroen R.), Albanes, D. (Demetrius), Aldrich, M.C. (Melinda), Andrew, A.S. (Angeline S.), Andrulis, I.L. (Irene L.), Anton-Culver, H. (Hoda), Antoniou, A.C. (Antonis C.), Antonenkova, N.N. (Natalia N.), Arnold, S.M. (Susanne M.), Aronson, K.J. (Kristan J.), Arun, B.K. (Banu), Bandera, E.V. (Elisa), Barkardottir, R.B. (Rosa B.), Barnes, D. (Daniel), Batra, J. (Jyotsna), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Benlloch, S. (Sara), Berchuck, A. (Andrew), Berndt, S.I. (Sonja), Bickeböller, H. (Heike), Bien, S.A. (Stephanie A.), Blomqvist, C. (Carl), Boccia, S. (Stefania), Bogdanova, N.V. (Natalia V.), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet K.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brenton, J.D. (James D.), Brook, R.H., Brunet, J. (Joan), Brunnström, H. (Hans), Buchanan, D.D. (Daniel D.), Burwinkel, B. (Barbara), Butzow, R. (Ralf), Cadoni, G. (Gabriella), Caldes, T. (Trinidad), Caligo, M.A. (Maria A.), Campbell, I. (Ian), Campbell, P.T. (Peter T.), Cancel-Tassin, G. (Géraldine), Cannon-Albright, L.A. (Lisa), Campa, D. (Daniele), Caporaso, N.E. (Neil), Carvalho, A.L. (André L), Chan, A.T. (Andrew T.), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen), Chen, C. (Chu), Christiani, D.C. (David C.), Claes, K.B.M. (Kathleen B M), Claessens, F. (Frank), Clements, J. (Judith), Collée, J.M. (J Margriet), Correa, M.C. (Marcia Cruz), Couch, F.J. (Fergus), Cox, A. (Angela), Cunningham, J.M. (Julie), Cybulski, C. (Cezary), Czene, K. (Kamila), Daly, M.B. (Mary), DeFazio, A. (Anna), Devilee, P. (Peter), Diez, O. (Orland), Gago-Dominguez, M. (Manuela), Donovan, J.L. (Jenny L.), Dörk, T. (Thilo), Duell, E.J. (Eric), Dunning, A.M. (Alison M.), Dwek, M. (Miriam), Eccles, D. (Diana), Edlund, C.K. (Christopher), Edwards, D.R.V. (Digna R Velez), Ellberg, C. (Carolina), Evans, D.G. (D Gareth), Fasching, P.A. (Peter), Ferris, R.L. (Robert L.), Liloglou, T. (Triantafillos), Figueiredo, J.C. (Jane C.), Fletcher, O. (Olivia), Fortner, R.T. (Renée T), Fostira, F. (Florentia), Franceschi, S. (Silvia), Friedman, E. (Eitan), Gallinger, S. (Steve), Ganz, P.A. (Patricia), Garber, J. (Judy), García-Sáenz, J.A. (José A), Gayther, S.A. (Simon), Giles, G.G. (Graham G.), Godwin, A.K. (Andrew K.), Goldberg, M.S. (Mark), Goldgar, D.E. (David E.), Goode, E.L. (Ellen), Goodman, M.T. (Marc), Goodman, G. (Gary), Grankvist, K. (Kjell), Greene, M.H. (Mark H.), Grönberg, H. (Henrik), Gronwald, J. (Jacek), Guénel, P. (Pascal), Håkansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hamdy, F. (Freddie), Hamilton, R.J. (Robert J.), Hampe, J. (Jochen), Haugen, A. (Aage), Heitz, F. (Florian), Herrero, R. (Rolando), Hillemanns, P. (Peter), Hoffmeister, M. (Michael), Høgdall, E. (Estrid), Hong, Y.-C. (Yun-Chul), Hopper, J.L. (John), Houlston, R. (Richard), Hulick, P.J. (Peter J.), Hunter, D.J. (David), Huntsman, D.G. (David G.), Idos, G. (Gregory), Imyanitov, E.N. (Evgeny), Ingles, S.A. (Sue), Isaacs, C. (Claudine), Jakubowska, A. (Anna), James, M. (Margaret), Jenkins, M.A. (Mark A.), Johansson, M. (Mattias), Johansson, M. (Mikael), John, E.M. (Esther), Joshi, A.D. (Amit D.), Kaneva, R. (Radka), Karlan, B.Y. (Beth), Kelemen, L.E. (Linda E.), Kühl, T. (Tabea), Khaw, K.-T. (Kay-Tee), Khusnutdinova, E.K. (Elza), Kibel, A. (Adam), Kiemeney, L.A. (Lambertus A.), Kim, J. (Jongoh), Kjaer, M. (Michael), Knight, J.A. (Julia), Kogevinas, M. (Manolis), Kote-Jarai, Z., Koutros, S. (Stella), Kristensen, V. (Vessela), Kupryjanczyk, J. (Jolanta), Lacko, M. (Martin), Lam, S. (Stephan), Lambrechts, D. (Diether), Landi, M.T. (Maria Teresa), Lazarus, P. (Philip), Le, N.D. (Nhu D.), Lee, E. (Eunjung), Lejbkowicz, F. (Flavio), Lenz, H.-J. (Heinz-Josef), Leslie, G. (Goska), Lessel, D. (Davor), Lester, J. (Jenny), Levine, D.A. (Douglas), Li, L. (Li), Li, C.I. (Christopher I.), Lindblom, A. (Annika), Lindor, N.M. (Noralane), Liu, G. (Geoffrey), Loupakis, F. (Fotios), Lubinski, J. (Jan), Maehle, L., Maier, C. (Christiane), Mannermaa, A. (Arto), Le Marchand, L. (Loic), Margolin, S. (Sara), May, T. (Taymaa), McGuffog, L. (Lesley), Meindl, A. (Alfons), Middha, P. (Pooja), Miller, A. (Austin), Milne, R.L. (Roger), MacInnis, R.J. (Robert J.), Modugno, F. (Francesmary), Montagna, M. (Marco), Moreno, V. (Víctor), Moysich, K.B. (Kirsten), Mucci, L. (Lorelei), Muir, K. (Kenneth), Mulligan, A.-M. (Anna-Marie), Nathanson, K.L. (Katherine), Neal, D. (David), Ness, A.R. (Andrew R.), Neuhausen, S.L. (Susan L.), Nevanlinna, H. (Heli), Newcomb, P. (Polly), Newcomb, L.F. (Lisa F.), Nielsen, F. (Finn), Nikitina-Zake, L. (Liene), Nordestgaard, B.G. (Børge), Nussbaum, R. (Robert), Offit, K. (Kenneth), Olah, E. (Edith), Olama, A.A.A. (Ali Amin Al), Olopade, O.I. (Olofunmilayo), Olshan, A.F. (Andrew F.), Olsson, H. (Håkan), Osorio, A. (Ana), Pandha, H. (Hardev), Park, J.Y. (Jong Y.), Pashayan, N. (Nora), Parsons, M. (Marilyn), Pejovic, T. (Tanja), Penney, K.L. (Kathryn L.), Peters, W.H.M. (Wilbert), Phelan, C. (Catherine), Phipps, A.I. (Amanda I.), Plaseska-Karanfilska, D. (Dijana), Pring, M. (Miranda), Prokofyeva, D. (Darya), Radice, P. (Paolo), Stefansson, K. (Kari), Ramus, S.J. (Susan), Raskin, L. (Leon), Rennert, G. (Gad), Rennert, H.S. (Hedy S.), Rensburg, E.J. (Elizabeth) van, Riggan, M.J. (Marjorie J.), Risch, H.A. (Harvey A.), Risch, A. (Angela), Roobol, M.J. (Monique J.), Rosenstein, B.S. (Barry S.), Rossing, M.A. (Mary Anne), De Ruyck, K. (Kim), Saloustros, E. (Emmanouil), Sandler, D.P. (Dale P.), Sawyer, E.J. (Elinor J.), Schabath, M.B. (Matthew), Schleutker, J. (Johanna), Schmidt, M.K. (Marjanka), Setiawan, V.W. (V Wendy), Shen, H. (Hongbing), Siegel, E.M. (Erin M.), Sieh, W. (Weiva), Singer, C.F. (Christian), Slattery, M.L. (Martha L.), Sorensen, K.D. (Karina Dalsgaard), Southey, M.C. (Melissa), Spurdle, A.B. (Amanda), Stanford, J.L. (Janet L.), Stevens, V.L. (Victoria L.), Stintzing, S. (Sebastian), Stone, J. (Jennifer), Sundfeldt, K. (Karin), Sutphen, R. (Rebecca), Swerdlow, A.J. (Anthony ), Tajara, E.H. (Eloiza H.), Tangen, C.M. (Catherine M.), Tardón, A. (Adonina), Taylor, J.A. (Jack A.), Teare, M.D. (M Dawn), Teixeira, P.J., Terry, M.B. (Mary Beth), Terry, K.L. (Kathryn L.), Thibodeau, S.N. (Stephen), Thomassen, M. (Mads), Bjørge, L. (Line), Tischkowitz, M. (Marc), Toland, A.E. (Amanda), Torres, D. (Diana), Townsend, P.A. (Paul A.), Travis, S.P.L. (Simon), Tung, N. (Nadine), Tworoger, S. (Shelley), Ulrich, C. (Cornelia), Usmani, N. (Nawaid), Vachon, C. (Celine), Van Nieuwenhuysen, E. (Els), Vega, A. (Ana), Aguado-Barrera, M.E. (Miguel Elías), Wang, Q. (Qin), Webb, P. (Penny), Weinberg, C.R. (Clarice R.), Weinstein, S. (Stephanie), Weissler, M.C. (Mark C.), Weitzel, J.N. (Jeffrey), West, C.M.L. (Catharine M L), White, E. (Emily), Whittemore, A.S. (Alice), Wichmann, H.-E. (H-Erich), Wiklund, F. (Fredrik), Winqvist, R. (Robert), Wolk, K. (Kerstin), Woll, P.J. (Penella J), Woods, M.O. (Michael), Wu, A.H. (Anna H.), Wu, X. (Xifeng), Yannoukakos, D. (Drakoulis), Zheng, W. (Wei), Zienolddiny, S. (Shanbeh), Ziogas, A. (Argyrios), Zorn, K.K. (Kristin K.), Lane, J.M. (Jacqueline M.), Saxena, R. (Richa), Thomas, D.C. (Duncan), Hung, R.J. (Rayjean J.), Diergaarde, B. (Brenda), McKay, J. (James), Peters, U. (Ulrike), Hsu, L. (Li), García-Closas, M. (Montserrat), Eeles, R.A. (Rosalind A.), Chenevix-Trench, G. (Georgia), Brennan, P.J. (Paul J.), Haiman, C.A. (Christopher), Simard, J. (Jacques), Easton, D.F. (Douglas), Gruber, S.B. (Stephen), Pharoah, P.D.P. (Paul), Price, A.L. (Alkes L.), Pasaniuc, B. (Bogdan), Amos, C.I. (Christopher I.), Kraft, P. (Peter), Lindström, S. (Sara), Jiang, X. (Xia), Finucane, H.K. (Hilary K.), Schumacher, F.R. (Fredrick R), Schmit, S.L. (Stephanie L.), Tyrer, J.P. (Jonathan P.), Han, Y. (Younghun), Michailidou, K. (Kyriaki), Lesseur, C. (Corina), Kuchenbaecker, K.B. (Karoline), Dennis, J. (Joe), Conti, G. (Giario), Casey, G. (Graham), Gaudet, M.M. (Mia M.), Huyghe, J.R. (Jeroen R.), Albanes, D. (Demetrius), Aldrich, M.C. (Melinda), Andrew, A.S. (Angeline S.), Andrulis, I.L. (Irene L.), Anton-Culver, H. (Hoda), Antoniou, A.C. (Antonis C.), Antonenkova, N.N. (Natalia N.), Arnold, S.M. (Susanne M.), Aronson, K.J. (Kristan J.), Arun, B.K. (Banu), Bandera, E.V. (Elisa), Barkardottir, R.B. (Rosa B.), Barnes, D. (Daniel), Batra, J. (Jyotsna), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Benlloch, S. (Sara), Berchuck, A. (Andrew), Berndt, S.I. (Sonja), Bickeböller, H. (Heike), Bien, S.A. (Stephanie A.), Blomqvist, C. (Carl), Boccia, S. (Stefania), Bogdanova, N.V. (Natalia V.), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet K.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brenton, J.D. (James D.), Brook, R.H., Brunet, J. (Joan), Brunnström, H. (Hans), Buchanan, D.D. (Daniel D.), Burwinkel, B. (Barbara), Butzow, R. (Ralf), Cadoni, G. (Gabriella), Caldes, T. (Trinidad), Caligo, M.A. (Maria A.), Campbell, I. (Ian), Campbell, P.T. (Peter T.), Cancel-Tassin, G. (Géraldine), Cannon-Albright, L.A. (Lisa), Campa, D. (Daniele), Caporaso, N.E. (Neil), Carvalho, A.L. (André L), Chan, A.T. (Andrew T.), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen), Chen, C. (Chu), Christiani, D.C. (David C.), Claes, K.B.M. (Kathleen B M), Claessens, F. (Frank), Clements, J. (Judith), Collée, J.M. (J Margriet), Correa, M.C. (Marcia Cruz), Couch, F.J. (Fergus), Cox, A. (Angela), Cunningham, J.M. (Julie), Cybulski, C. (Cezary), Czene, K. (Kamila), Daly, M.B. (Mary), DeFazio, A. (Anna), Devilee, P. (Peter), Diez, O. (Orland), Gago-Dominguez, M. (Manuela), Donovan, J.L. (Jenny L.), Dörk, T. (Thilo), Duell, E.J. (Eric), Dunning, A.M. (Alison M.), Dwek, M. (Miriam), Eccles, D. (Diana), Edlund, C.K. (Christopher), Edwards, D.R.V. (Digna R Velez), Ellberg, C. (Carolina), Evans, D.G. (D Gareth), Fasching, P.A. (Peter), Ferris, R.L. (Robert L.), Liloglou, T. (Triantafillos), Figueiredo, J.C. (Jane C.), Fletcher, O. (Olivia), Fortner, R.T. (Renée T), Fostira, F. (Florentia), Franceschi, S. (Silvia), Friedman, E. (Eitan), Gallinger, S. (Steve), Ganz, P.A. (Patricia), Garber, J. (Judy), García-Sáenz, J.A. (José A), Gayther, S.A. (Simon), Giles, G.G. (Graham G.), Godwin, A.K. (Andrew K.), Goldberg, M.S. (Mark), Goldgar, D.E. (David E.), Goode, E.L. (Ellen), Goodman, M.T. (Marc), Goodman, G. (Gary), Grankvist, K. (Kjell), Greene, M.H. (Mark H.), Grönberg, H. (Henrik), Gronwald, J. (Jacek), Guénel, P. (Pascal), Håkansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hamdy, F. (Freddie), Hamilton, R.J. (Robert J.), Hampe, J. (Jochen), Haugen, A. (Aage), Heitz, F. (Florian), Herrero, R. (Rolando), Hillemanns, P. (Peter), Hoffmeister, M. (Michael), Høgdall, E. (Estrid), Hong, Y.-C. (Yun-Chul), Hopper, J.L. (John), Houlston, R. (Richard), Hulick, P.J. (Peter J.), Hunter, D.J. (David), Huntsman, D.G. (David G.), Idos, G. (Gregory), Imyanitov, E.N. (Evgeny), Ingles, S.A. (Sue), Isaacs, C. (Claudine), Jakubowska, A. (Anna), James, M. (Margaret), Jenkins, M.A. (Mark A.), Johansson, M. (Mattias), Johansson, M. (Mikael), John, E.M. (Esther), Joshi, A.D. (Amit D.), Kaneva, R. (Radka), Karlan, B.Y. (Beth), Kelemen, L.E. (Linda E.), Kühl, T. (Tabea), Khaw, K.-T. (Kay-Tee), Khusnutdinova, E.K. (Elza), Kibel, A. (Adam), Kiemeney, L.A. (Lambertus A.), Kim, J. (Jongoh), Kjaer, M. (Michael), Knight, J.A. (Julia), Kogevinas, M. (Manolis), Kote-Jarai, Z., Koutros, S. (Stella), Kristensen, V. (Vessela), Kupryjanczyk, J. (Jolanta), Lacko, M. (Martin), Lam, S. (Stephan), Lambrechts, D. (Diether), Landi, M.T. (Maria Teresa), Lazarus, P. (Philip), Le, N.D. (Nhu D.), Lee, E. (Eunjung), Lejbkowicz, F. (Flavio), Lenz, H.-J. (Heinz-Josef), Leslie, G. (Goska), Lessel, D. (Davor), Lester, J. (Jenny), Levine, D.A. (Douglas), Li, L. (Li), Li, C.I. (Christopher I.), Lindblom, A. (Annika), Lindor, N.M. (Noralane), Liu, G. (Geoffrey), Loupakis, F. (Fotios), Lubinski, J. (Jan), Maehle, L., Maier, C. (Christiane), Mannermaa, A. (Arto), Le Marchand, L. (Loic), Margolin, S. (Sara), May, T. (Taymaa), McGuffog, L. (Lesley), Meindl, A. (Alfons), Middha, P. (Pooja), Miller, A. (Austin), Milne, R.L. (Roger), MacInnis, R.J. (Robert J.), Modugno, F. (Francesmary), Montagna, M. (Marco), Moreno, V. (Víctor), Moysich, K.B. (Kirsten), Mucci, L. (Lorelei), Muir, K. (Kenneth), Mulligan, A.-M. (Anna-Marie), Nathanson, K.L. (Katherine), Neal, D. (David), Ness, A.R. (Andrew R.), Neuhausen, S.L. (Susan L.), Nevanlinna, H. (Heli), Newcomb, P. (Polly), Newcomb, L.F. (Lisa F.), Nielsen, F. (Finn), Nikitina-Zake, L. (Liene), Nordestgaard, B.G. (Børge), Nussbaum, R. (Robert), Offit, K. (Kenneth), Olah, E. (Edith), Olama, A.A.A. (Ali Amin Al), Olopade, O.I. (Olofunmilayo), Olshan, A.F. (Andrew F.), Olsson, H. (Håkan), Osorio, A. (Ana), Pandha, H. (Hardev), Park, J.Y. (Jong Y.), Pashayan, N. (Nora), Parsons, M. (Marilyn), Pejovic, T. (Tanja), Penney, K.L. (Kathryn L.), Peters, W.H.M. (Wilbert), Phelan, C. (Catherine), Phipps, A.I. (Amanda I.), Plaseska-Karanfilska, D. (Dijana), Pring, M. (Miranda), Prokofyeva, D. (Darya), Radice, P. (Paolo), Stefansson, K. (Kari), Ramus, S.J. (Susan), Raskin, L. (Leon), Rennert, G. (Gad), Rennert, H.S. (Hedy S.), Rensburg, E.J. (Elizabeth) van, Riggan, M.J. (Marjorie J.), Risch, H.A. (Harvey A.), Risch, A. (Angela), Roobol, M.J. (Monique J.), Rosenstein, B.S. (Barry S.), Rossing, M.A. (Mary Anne), De Ruyck, K. (Kim), Saloustros, E. (Emmanouil), Sandler, D.P. (Dale P.), Sawyer, E.J. (Elinor J.), Schabath, M.B. (Matthew), Schleutker, J. (Johanna), Schmidt, M.K. (Marjanka), Setiawan, V.W. (V Wendy), Shen, H. (Hongbing), Siegel, E.M. (Erin M.), Sieh, W. (Weiva), Singer, C.F. (Christian), Slattery, M.L. (Martha L.), Sorensen, K.D. (Karina Dalsgaard), Southey, M.C. (Melissa), Spurdle, A.B. (Amanda), Stanford, J.L. (Janet L.), Stevens, V.L. (Victoria L.), Stintzing, S. (Sebastian), Stone, J. (Jennifer), Sundfeldt, K. (Karin), Sutphen, R. (Rebecca), Swerdlow, A.J. (Anthony ), Tajara, E.H. (Eloiza H.), Tangen, C.M. (Catherine M.), Tardón, A. (Adonina), Taylor, J.A. (Jack A.), Teare, M.D. (M Dawn), Teixeira, P.J., Terry, M.B. (Mary Beth), Terry, K.L. (Kathryn L.), Thibodeau, S.N. (Stephen), Thomassen, M. (Mads), Bjørge, L. (Line), Tischkowitz, M. (Marc), Toland, A.E. (Amanda), Torres, D. (Diana), Townsend, P.A. (Paul A.), Travis, S.P.L. (Simon), Tung, N. (Nadine), Tworoger, S. (Shelley), Ulrich, C. (Cornelia), Usmani, N. (Nawaid), Vachon, C. (Celine), Van Nieuwenhuysen, E. (Els), Vega, A. (Ana), Aguado-Barrera, M.E. (Miguel Elías), Wang, Q. (Qin), Webb, P. (Penny), Weinberg, C.R. (Clarice R.), Weinstein, S. (Stephanie), Weissler, M.C. (Mark C.), Weitzel, J.N. (Jeffrey), West, C.M.L. (Catharine M L), White, E. (Emily), Whittemore, A.S. (Alice), Wichmann, H.-E. (H-Erich), Wiklund, F. (Fredrik), Winqvist, R. (Robert), Wolk, K. (Kerstin), Woll, P.J. (Penella J), Woods, M.O. (Michael), Wu, A.H. (Anna H.), Wu, X. (Xifeng), Yannoukakos, D. (Drakoulis), Zheng, W. (Wei), Zienolddiny, S. (Shanbeh), Ziogas, A. (Argyrios), Zorn, K.K. (Kristin K.), Lane, J.M. (Jacqueline M.), Saxena, R. (Richa), Thomas, D.C. (Duncan), Hung, R.J. (Rayjean J.), Diergaarde, B. (Brenda), McKay, J. (James), Peters, U. (Ulrike), Hsu, L. (Li), García-Closas, M. (Montserrat), Eeles, R.A. (Rosalind A.), Chenevix-Trench, G. (Georgia), Brennan, P.J. (Paul J.), Haiman, C.A. (Christopher), Simard, J. (Jacques), Easton, D.F. (Douglas), Gruber, S.B. (Stephen), Pharoah, P.D.P. (Paul), Price, A.L. (Alkes L.), Pasaniuc, B. (Bogdan), Amos, C.I. (Christopher I.), Kraft, P. (Peter), and Lindström, S. (Sara)
Abstract: An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Published: 2019
Full Text: View/download PDF

28. Molecular markers for predicting prostate cancer stage and survival

Author: Dunsmuir, W.D., Gillett, C.E., Meyer, L.C., Young, M.P., Corbishley, C., Eeles, R.A., and Kirby, R.S.
Published: 2000

29. Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition (vol 118, pg 266, 2018)

Author: Mikropoulos, C., Selkirk, C.G.H., Saya, S., Bancroft, E., Vertosick, E., Dadaev, T., Brendler, C., Page, E., Dias, A., Evans, D.G., Rothwell, J., Maehle, L., Axcrona, K., Richardson, K., Eccles, D., Jensen, T., Osther, P.J., Asperen, C.J. van, Vasen, H., Kiemeney, L.A., Ringelberg, J., Cybulski, C., Wokolorczyk, D., Hart, R., Glover, W., Lam, J., Taylor, L., Salinas, M., Feliubadalo, L., Oldenburg, R., Cremers, R., Verhaegh, G., Zelst-Stams, W.A. van, Oosterwijk, J.C., Cook, J., Rosario, D.J., Buys, S.S., Conner, T., Domchek, S., Powers, J., Ausems, M.G.E.M., Teixeira, M.R., Maia, S., Izatt, L., Schmutzler, R., Rhiem, K., Foulkes, W.D., Boshari, T., Davidson, R., Ruijs, M., Helderman-van den Enden, A.T.J.M., Andrews, L., Walker, L., Snape, K., Henderson, A., Jobson, I., Lindeman, G.J., Liljegren, A., Harris, M., Adank, M.A., Kirk, J., Taylor, A., Susman, R., Chen-Shtoyerman, R., Pachter, N., Spigelman, A., Side, L., Zgajnar, J., Mora, J., Brewer, C., Gadea, N., Brady, A.F., Gallagher, D., Os, T. van, Donaldson, A., Stefansdottir, V., Barwell, J., James, P.A., Murphy, D., Friedman, E., Nicolai, N., Greenhalgh, L., Obeid, E., Murthy, V., Copakova, L., McGrath, J., Teo, S.H., Strom, S., Kast, K., Leongamornlert, D.A., Chamberlain, A., Pope, J., Newlin, A.C., Aaronson, N., Ardern-Jones, A., Bangma, C., Castro, E., Dearnaley, D., Eyfjord, J., Falconer, A., Foster, C.S., Gronberg, H., Hamdy, F.C., Johannsson, O., Khoo, V., Lubinski, J., Grindedal, E.M., McKinley, J., Shackleton, K., Mitra, A.V., Moynihan, C., Rennert, G., Suri, M., Tricker, K., Moss, S., Kote-Jarai, Z., Vickers, A., Lilja, H., Helfand, B.T., Eeles, R.A., and IMPACT Study Collaborators
Published: 2018

30. Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

Author: Mikropoulos, C., Selkirk, C.G.H., Saya, S., Bancroft, E., Vertosick, E., Dadaev, T., Brendler, C., Page, E., Dias, A., Evans, D.G., Rothwell, J., Maehle, L., Axcrona, K., Richardson, K., Eccles, D., Jensen, T., Osther, P.J., Asperen, C.J. van, Vasen, H., Kiemeney, L.A., Ringelberg, J., Cybulski, C., Wokolorczyk, D., Hart, R., Glover, W., Lam, J., Taylor, L., Salinas, M., Feliubadalo, L., Oldenburg, R., Cremers, R., Verhaegh, G., Zelst-Stams, W.A. van, Oosterwijk, J.C., Cook, J., Rosario, D.J., Buys, S.S., Conner, T., Domchek, S., Powers, J., Ausems, M.G.E.M., Teixeira, M.R., Maia, S., Izatt, L., Schmutzler, R., Rhiem, K., Foulkes, W.D., Boshari, T., Davidson, R., Ruijs, M., Helderman-van den Enden, A.T.J.M., Andrews, L., Walker, L., Snape, K., Henderson, A., Jobson, I., Lindeman, G.J., Liljegren, A., Harris, M., Adank, M.A., Kirk, J., Taylor, A., Susman, R., Chen-Shtoyerman, R., Pachter, N., Spigelman, A., Side, L., Zgajnar, J., Mora, J., Brewer, C., Gadea, N., Brady, A.F., Gallagher, D., Os, T. van, Donaldson, A., Stefansdottir, V., Barwell, J., James, P.A., Murphy, D., Friedman, E., Nicolai, N., Greenhalgh, L., Obeid, E., Murthy, V., Copakova, L., McGrath, J., Teo, S.H., Strom, S., Kast, K., Leongamornlert, D.A., Chamberlain, A., Pope, J., Newlin, A.C., Aaronson, N., Ardern-Jones, A., Bangma, C., Castro, E., Dearnaley, D., Eyfjord, J., Falconer, A., Foster, C.S., Gronberg, H., Hamdy, F.C., Johannsson, O., Khoo, V., Lubinski, J., Grindedal, E.M., McKinley, J., Shackleton, K., Mitra, A.V., Moynihan, C., Rennert, G., Suri, M., Tricker, K., Moss, S., Kote-Jarai, Z., Vickers, A., Lilja, H., Helfand, B.T., Eeles, R.A., and IMPACT Study Collaborators
Subjects: predictive model, prostate cancer, BRCA1, urologic and male genital diseases, genetic predisposition, BRCA2, PSA velocity
Abstract: Background: Prostate-specific antigen (PSA) and PSA-velocity (PSAV) have been used to identify men at risk of prostate cancer (PrCa). The IMPACT study is evaluating PSA screening in men with a known genetic predisposition to PrCa due to BRCA1/2 mutations. This analysis evaluates the utility of PSA and PSAV for identifying PrCa and high-grade disease in this cohort. Methods: PSAV was calculated using logistic regression to determine if PSA or PSAV predicted the result of prostate biopsy (PB) in men with elevated PSA values. Cox regression was used to determine whether PSA or PSAV predicted PSA elevation in men with low PSAs. Interaction terms were included in the models to determine whether BRCA status influenced the predictiveness of PSA or PSAV. Results: 1634 participants had >= 3 PSA readings of whom 174 underwent PB and 45 PrCas diagnosed. In men with PSA >3.0 ng ml(-1), PSAV was not significantly associated with presence of cancer or high-grade disease. PSAV did not add to PSA for predicting time to an elevated PSA. When comparing BRCA1/2 carriers to non-carriers, we found a significant interaction between BRCA status and last PSA before biopsy (P = 0.031) and BRCA2 status and PSAV (P = 0.024). However, PSAV was not predictive of biopsy outcome in BRCA2 carriers. Conclusions: PSA is more strongly predictive of PrCa in BRCA carriers than non-carriers. We did not find evidence that PSAV aids decision-making for BRCA carriers over absolute PSA value alone.
Published: 2018

31. Bromodomain protein 4 discriminates tissue-specific super-enhancers containing disease-specific susceptibility loci in prostate and breast cancer

Author: Zuber, V., Bettella, F., Witoelar, A.W., Andreassen, O.A., Mills, I.G., Urbanucci, A., Eeles, R.A., Easton, D.F., Kote-Jarai, Z., Al Olama, A.A., Benlloch, S., Muir, K., Giles, G.G., Wiklund, F., Grönberg, H., Haiman, C.A., Schleutker, J., Weischer, M., Travis, R.C., Neal, D., Pharoah, P., Khaw, K.T., Stanford, J.L., Blot, W.J., Thibodeau, S.N., Maier, C., Kibel, A.S., Cybulski, C., Cannon-Albright, L., Brenner, H., Park, J., Kaneva, R., Batra, J., Teixeira, M.R., Pandha, H., Chenevix-Trench, G., Humphreys, M.K., Hung, R.J., Han, Y., Brennan, P., Bickeböller, H., Rosenberger, A., Houlston, R.S., Caporaso, N., Landi, M.T., Heinrich, J., Risch, A., Wu, X., Ye, Y., Christiani, D.C., Amos, C.I., Michailidou, K., Bolla, M.K., Wang, Q., Berchuck, A., Antoniou, A.C., McGuffog, L., Couch, F.J., Offit, K., Dennis, J., Dunning, A.M., Lee, A., Dicks, E., Luccarini, C., Benítez, J., González-Neira, A., Simard, J., Tessier, D.C., Bacot, F., Vincent, D., Laboissiere, S., and Wrightson, R
Subjects: Male, Quantitative Trait Loci, Breast Neoplasms, Cell Cycle Proteins, Brd4, Breast Cancer Risk, Chromatin, Functional Annotation, Genome-wide Association Studies, Prostate Cancer Risk, Risk Loci, Schizophrenia, Snps, Super-enhancer, Genome-wide association studies, Polymorphism, Single Nucleotide, Epigenesis, Genetic, Histones, breast cancer risk, SDG 3 - Good Health and Well-being, super-enhancer, Genetics, Journal Article, Humans, Genetic Predisposition to Disease, Risk loci, Binding Sites, Chromosome Mapping, Computational Biology, Nuclear Proteins, Prostatic Neoplasms, Functional annotation, Prostate cancer risk, schizophrenia, Gene Expression Regulation, Neoplastic, Enhancer Elements, Genetic, Organ Specificity, Receptors, Androgen, BRD4, Female, Research Article, SNPs, Genome-Wide Association Study, Protein Binding, Transcription Factors, Biotechnology
Abstract: Background Epigenetic information can be used to identify clinically relevant genomic variants single nucleotide polymorphisms (SNPs) of functional importance in cancer development. Super-enhancers are cell-specific DNA elements, acting to determine tissue or cell identity and driving tumor progression. Although previous approaches have been tried to explain risk associated with SNPs in regulatory DNA elements, so far epigenetic readers such as bromodomain containing protein 4 (BRD4) and super-enhancers have not been used to annotate SNPs. In prostate cancer (PC), androgen receptor (AR) binding sites to chromatin have been used to inform functional annotations of SNPs. Results Here we establish criteria for enhancer mapping which are applicable to other diseases and traits to achieve the optimal tissue-specific enrichment of PC risk SNPs. We used stratified Q-Q plots and Fisher test to assess the differential enrichment of SNPs mapping to specific categories of enhancers. We find that BRD4 is the key discriminant of tissue-specific enhancers, showing that it is more powerful than AR binding information to capture PC specific risk loci, and can be used with similar effect in breast cancer (BC) and applied to other diseases such as schizophrenia. Conclusions This is the first study to evaluate the enrichment of epigenetic readers in genome-wide associations studies for SNPs within enhancers, and provides a powerful tool for enriching and prioritizing PC and BC genetic risk loci. Our study represents a proof of principle applicable to other diseases and traits that can be used to redefine molecular mechanisms of human phenotypic variation. Electronic supplementary material The online version of this article (doi:10.1186/s12864-017-3620-y) contains supplementary material, which is available to authorized users.
Published: 2018
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32. Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

Author: Mikropoulos, Christos, Selkirk, C., Saya, Sibel, Bancroft, Elizabeth, Vertosick, Emily, Dadaev, Tokhir, Kiemeney, L.A., Cremers, R.G., Verhaegh, G.W., Zelst-Stams, W.A. van, Helfand, B.T., Eeles, R.A., Mikropoulos, Christos, Selkirk, C., Saya, Sibel, Bancroft, Elizabeth, Vertosick, Emily, Dadaev, Tokhir, Kiemeney, L.A., Cremers, R.G., Verhaegh, G.W., Zelst-Stams, W.A. van, Helfand, B.T., and Eeles, R.A.
Abstract: Contains fulltext : 184032.pdf (publisher's version ) (Open Access)
Published: 2018

33. Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.

Author: Grindedal E.M., Maier C., Luedeke M., Schnoeller T., Kim J., Logothetis C.J., John E.M., Teixeira M.R., Paulo P., Cardoso M., Neuhausen S.L., Steele L., Ding Y.C., De Ruyck K., De Meerleer G., Ost P., Razack A., Lim J., Teo S.-H., Lin D.W., Newcomb L.F., Lessel D., Gamulin M., Kulis T., Kaneva R., Usmani N., Singhal S., Slavov C., Mitev V., Parliament M., Claessens F., Joniau S., Van Den Broeck T., Larkin S., Townsend P.A., Aukim-Hastie C., Dominguez M.G., Castelao J.E., Martinez M.E., Roobol M.J., Jenster G., Van Schaik R.H.N., Menegaux F., Truong T., Koudou Y.A., Xu J., Khaw K.-T., Cannon-Albright L., Pandha H., Michael A., Thibodeau S.N., McDonnell S.K., Schaid D.J., Lindstrom S., Turman C., Ma J., Hunter D.J., Riboli E., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Hoover R.N., Machiela M.J., Cui Z., Kraft P., Amos C.I., Conti D.V., Easton D.F., Wiklund F., Chanock S.J., Henderson B.E., Kote-Jarai Z., Haiman C.A., Eeles R.A., Schumacher F.R., Al Olama A.A., Berndt S.I., Benlloch S., Ahmed M., Saunders E.J., Dadaev T., Leongamornlert D., Anokian E., Cieza-Borrella C., Goh C., Brook M.N., Sheng X., Fachal L., Dennis J., Tyrer J., Muir K., Lophatananon A., Stevens V.L., Gapstur S.M., Carter B.D., Tangen C.M., Goodman P.J., Thompson I.M., Batra J., Chambers S., Moya L., Clements J., Horvath L., Tilley W., Risbridger G.P., Gronberg H., Aly M., Nordstrom T., Pharoah P., Pashayan N., Schleutker J., Tammela T.L.J., Sipeky C., Auvinen A., Albanes D., Weinstein S., Wolk A., Hakansson N., West C.M.L., Dunning A.M., Burnet N., Mucci L.A., Giovannucci E., Andriole G.L., Cussenot O., Cancel-Tassin G., Koutros S., Beane Freeman L.E., Sorensen K.D., Orntoft T.F., Borre M., Maehle L., Neal D.E., Donovan J.L., Hamdy F.C., Martin R.M., Travis R.C., Key T.J., Hamilton R.J., Fleshner N.E., Finelli A., Ingles S.A., Stern M.C., Rosenstein B.S., Kerns S.L., Ostrer H., Lu Y.-J., Zhang H.-W., Feng N., Mao X., Guo X., Wang G., Sun Z., Giles G.G., Southey M.C., MacInnis R.J., Fitzgerald L.M., Kibel A.S., Drake B.F., Vega A., Gomez-Caamano A., Szulkin R., Eklund M., Kogevinas M., Llorca J., Castano-Vinyals G., Penney K.L., Stampfer M., Park J.Y., Sellers T.A., Lin H.-Y., Stanford J.L., Cybulski C., Wokolorczyk D., Lubinski J., Ostrander E.A., Geybels M.S., Nordestgaard Bo.G., Nielsen S.F., Weischer M., Bisbjerg R., Roder M.A., Iversen P., Brenner H., Cuk K., Holleczek B., Grindedal E.M., Maier C., Luedeke M., Schnoeller T., Kim J., Logothetis C.J., John E.M., Teixeira M.R., Paulo P., Cardoso M., Neuhausen S.L., Steele L., Ding Y.C., De Ruyck K., De Meerleer G., Ost P., Razack A., Lim J., Teo S.-H., Lin D.W., Newcomb L.F., Lessel D., Gamulin M., Kulis T., Kaneva R., Usmani N., Singhal S., Slavov C., Mitev V., Parliament M., Claessens F., Joniau S., Van Den Broeck T., Larkin S., Townsend P.A., Aukim-Hastie C., Dominguez M.G., Castelao J.E., Martinez M.E., Roobol M.J., Jenster G., Van Schaik R.H.N., Menegaux F., Truong T., Koudou Y.A., Xu J., Khaw K.-T., Cannon-Albright L., Pandha H., Michael A., Thibodeau S.N., McDonnell S.K., Schaid D.J., Lindstrom S., Turman C., Ma J., Hunter D.J., Riboli E., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Hoover R.N., Machiela M.J., Cui Z., Kraft P., Amos C.I., Conti D.V., Easton D.F., Wiklund F., Chanock S.J., Henderson B.E., Kote-Jarai Z., Haiman C.A., Eeles R.A., Schumacher F.R., Al Olama A.A., Berndt S.I., Benlloch S., Ahmed M., Saunders E.J., Dadaev T., Leongamornlert D., Anokian E., Cieza-Borrella C., Goh C., Brook M.N., Sheng X., Fachal L., Dennis J., Tyrer J., Muir K., Lophatananon A., Stevens V.L., Gapstur S.M., Carter B.D., Tangen C.M., Goodman P.J., Thompson I.M., Batra J., Chambers S., Moya L., Clements J., Horvath L., Tilley W., Risbridger G.P., Gronberg H., Aly M., Nordstrom T., Pharoah P., Pashayan N., Schleutker J., Tammela T.L.J., Sipeky C., Auvinen A., Albanes D., Weinstein S., Wolk A., Hakansson N., West C.M.L., Dunning A.M., Burnet N., Mucci L.A., Giovannucci E., Andriole G.L., Cussenot O., Cancel-Tassin G., Koutros S., Beane Freeman L.E., Sorensen K.D., Orntoft T.F., Borre M., Maehle L., Neal D.E., Donovan J.L., Hamdy F.C., Martin R.M., Travis R.C., Key T.J., Hamilton R.J., Fleshner N.E., Finelli A., Ingles S.A., Stern M.C., Rosenstein B.S., Kerns S.L., Ostrer H., Lu Y.-J., Zhang H.-W., Feng N., Mao X., Guo X., Wang G., Sun Z., Giles G.G., Southey M.C., MacInnis R.J., Fitzgerald L.M., Kibel A.S., Drake B.F., Vega A., Gomez-Caamano A., Szulkin R., Eklund M., Kogevinas M., Llorca J., Castano-Vinyals G., Penney K.L., Stampfer M., Park J.Y., Sellers T.A., Lin H.-Y., Stanford J.L., Cybulski C., Wokolorczyk D., Lubinski J., Ostrander E.A., Geybels M.S., Nordestgaard Bo.G., Nielsen S.F., Weischer M., Bisbjerg R., Roder M.A., Iversen P., Brenner H., Cuk K., and Holleczek B.
Abstract: Genome-wide association studies (GWAS) and fine-mapping efforts to date have identified more than 100 prostate cancer (PrCa)-susceptibility loci. We meta-analyzed genotype data from a custom high-density array of 46,939 PrCa cases and 27,910 controls of European ancestry with previously genotyped data of 32,255 PrCa cases and 33,202 controls of European ancestry. Our analysis identified 62 novel loci associated (P < 5.0 x 10-8) with PrCa and one locus significantly associated with early-onset PrCa (<=55 years). Our findings include missense variants rs1800057 (odds ratio (OR) = 1.16; P = 8.2 x 10-9; G>C, p.Pro1054Arg) in ATM and rs2066827 (OR = 1.06; P = 2.3 x 10-9; T>G, p.Val109Gly) in CDKN1B. The combination of all loci captured 28.4% of the PrCa familial relative risk, and a polygenic risk score conferred an elevated PrCa risk for men in the ninetieth to ninety-ninth percentiles (relative risk = 2.69; 95% confidence interval (CI): 2.55-2.82) and first percentile (relative risk = 5.71; 95% CI: 5.04-6.48) risk stratum compared with the population average. These findings improve risk prediction, enhance fine-mapping, and provide insight into the underlying biology of PrCa 1 .Copyright © 2018 The Author(s).
Published: 2018

34. Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants.

Author: Stampfer M., Ranu H., Hicks B., Vogt A., Cox A., Davis M., Brown P., George A., Marsden G., Lane A., Lewis S.J., Berry C., Kulkarni G.S., Toi A., Evans A., Zlotta A.R., Van Der Kwast T.H., Imai T., Saito S., Marzec J., Cao G., Lin J., Li M., Zhao S.-C., Ren G., Yu Y., Wu Y., Wu J., Zhou B., Zhang Y., Li J., He W., Guo J., Pedersen J., Hopper J.L., Milne R., Klim A., Carballo A., Lobato-Busto R., Peleteiro P., Calvo P., Aguado M., Ruiz-Dominguez J.M., Cecchini L., Mengual L., Alcaraz A., Bustamante M., Gracia-Lavedan E., Dierssen-Sotos T., Gomez-Acebo I., Pow-Sang J., Park H., Zachariah B., Kluzniak W., Kolb S., Klarskov P., Stegmaier C., Vogel W., Herkommer K., Bohnert P., Maia S., Silva M.P., De Langhe S., Thierens H., Tan M.H., Ong A.T., Kastelan Z., Popov E., Kachakova D., Mitkova A., Vlahova A., Dikov T., Christova S., Carracedo A., Bangma C., Schroder F.H., Cenee S., Tretarre B., Rebillard X., Mulot C., Sanchez M., Adolfsson J., Stattin P., Johansson J.-E., Cavalli-Bjoerkman C., Karlsson A., Broms M., Wu H., Tillmans L., Riska S., Freedman M., Wiklund F., Chanock S., Henderson B.E., Easton D.F., Haiman C.A., Eeles R.A., Conti D.V., Kote-Jarai Z., Hutchinson A., Ling J., Papargiris M., Dadaev T., Saunders E.J., Newcombe P.J., Anokian E., Leongamornlert D.A., Brook M.N., Cieza-Borrella C., Mijuskovic M., Wakerell S., Olama A.A.A., Schumacher F.R., Berndt S.I., Benlloch S., Ahmed M., Goh C., Sheng X., Zhang Z., Muir K., Govindasami K., Lophatananon A., Stevens V.L., Gapstur S.M., Carter B.D., Tangen C.M., Goodman P., Thompson I.M., Batra J., Chambers S., Moya L., Clements J., Horvath L., Tilley W., Risbridger G., Gronberg H., Aly M., Nordstrom T., Pharoah P., Pashayan N., Schleutker J., Tammela T.L.J., Sipeky C., Auvinen A., Albanes D., Weinstein S., Wolk A., Hakansson N., West C., Dunning A.M., Burnet N., Mucci L., Giovannucci E., Andriole G., Cussenot O., Cancel-Tassin G., Koutros S., Freeman L.E.B., Sorensen K.D., Orntoft T.F., Borre M., Maehle L., Grindedal E.M., Neal D.E., Donovan J.L., Hamdy F.C., Martin R.M., Travis R.C., Key T.J., Hamilton R.J., Fleshner N.E., Finelli A., Ingles S.A., Stern M.C., Rosenstein B., Kerns S., Ostrer H., Lu Y.-J., Zhang H.-W., Feng N., Mao X., Guo X., Wang G., Sun Z., Giles G.G., Southey M.C., MacInnis R.J., Fitzgerald L.M., Kibel A.S., Drake B.F., Vega A., Gomez-Caamano A., Fachal L., Szulkin R., Eklund M., Kogevinas M., Llorca J., Castano-Vinyals G., Penney K.L., Park J.Y., Sellers T.A., Lin H.-Y., Stanford J.L., Cybulski C., Wokolorczyk D., Lubinski J., Ostrander E.A., Geybels M.S., Nordestgaard Bo.G., Nielsen S.F., Weisher M., Bisbjerg R., Roder M.A., Iversen P., Brenner H., Cuk K., Holleczek B., Maier C., Luedeke M., Schnoeller T., Kim J., Logothetis C.J., John E.M., Teixeira M.R., Paulo P., Cardoso M., Neuhausen S.L., Steele L., Ding Y.C., De Ruyck K., De Meerleer G., Ost P., Razack A., Lim J., Teo S.-H., Lin D.W., Newcomb L.F., Lessel D., Gamulin M., Kulis T., Kaneva R., Usmani N., Slavov C., Mitev V., Parliament M., Singhal S., Claessens F., Joniau S., Van Den Broeck T., Larkin S., Townsend P.A., Aukim-Hastie C., Gago-Dominguez M., Castelao J.E., Martinez M.E., Roobol M.J., Jenster G., Van Schaik R.H.N., Menegaux F., Truong T., Koudou Y.A., Xu J., Khaw K.-T., Cannon-Albright L., Pandha H., Michael A., Kierzek A., Thibodeau S.N., McDonnell S.K., Schaid D.J., Lindstrom S., Turman C., Ma J., Hunter D.J., Riboli E., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Hoover R.N., Machiela M.J., Kraft P., Cook M., Thwaites A., Guy M., Whitmore I., Morgan A., Fisher C., Hazel S., Livni N., Spurdle A., Srinivasan S., Kedda M.-A., Aitken J., Gardiner R., Hayes V., Butler L., Taylor R., Yeadon T., Eckert A., Saunders P., Haynes A.-M., Kujala P., Talala K., Murtola T., Taari K., Dearnaley D., Barnett G., Bentzen So., Elliott R., Stampfer M., Ranu H., Hicks B., Vogt A., Cox A., Davis M., Brown P., George A., Marsden G., Lane A., Lewis S.J., Berry C., Kulkarni G.S., Toi A., Evans A., Zlotta A.R., Van Der Kwast T.H., Imai T., Saito S., Marzec J., Cao G., Lin J., Li M., Zhao S.-C., Ren G., Yu Y., Wu Y., Wu J., Zhou B., Zhang Y., Li J., He W., Guo J., Pedersen J., Hopper J.L., Milne R., Klim A., Carballo A., Lobato-Busto R., Peleteiro P., Calvo P., Aguado M., Ruiz-Dominguez J.M., Cecchini L., Mengual L., Alcaraz A., Bustamante M., Gracia-Lavedan E., Dierssen-Sotos T., Gomez-Acebo I., Pow-Sang J., Park H., Zachariah B., Kluzniak W., Kolb S., Klarskov P., Stegmaier C., Vogel W., Herkommer K., Bohnert P., Maia S., Silva M.P., De Langhe S., Thierens H., Tan M.H., Ong A.T., Kastelan Z., Popov E., Kachakova D., Mitkova A., Vlahova A., Dikov T., Christova S., Carracedo A., Bangma C., Schroder F.H., Cenee S., Tretarre B., Rebillard X., Mulot C., Sanchez M., Adolfsson J., Stattin P., Johansson J.-E., Cavalli-Bjoerkman C., Karlsson A., Broms M., Wu H., Tillmans L., Riska S., Freedman M., Wiklund F., Chanock S., Henderson B.E., Easton D.F., Haiman C.A., Eeles R.A., Conti D.V., Kote-Jarai Z., Hutchinson A., Ling J., Papargiris M., Dadaev T., Saunders E.J., Newcombe P.J., Anokian E., Leongamornlert D.A., Brook M.N., Cieza-Borrella C., Mijuskovic M., Wakerell S., Olama A.A.A., Schumacher F.R., Berndt S.I., Benlloch S., Ahmed M., Goh C., Sheng X., Zhang Z., Muir K., Govindasami K., Lophatananon A., Stevens V.L., Gapstur S.M., Carter B.D., Tangen C.M., Goodman P., Thompson I.M., Batra J., Chambers S., Moya L., Clements J., Horvath L., Tilley W., Risbridger G., Gronberg H., Aly M., Nordstrom T., Pharoah P., Pashayan N., Schleutker J., Tammela T.L.J., Sipeky C., Auvinen A., Albanes D., Weinstein S., Wolk A., Hakansson N., West C., Dunning A.M., Burnet N., Mucci L., Giovannucci E., Andriole G., Cussenot O., Cancel-Tassin G., Koutros S., Freeman L.E.B., Sorensen K.D., Orntoft T.F., Borre M., Maehle L., Grindedal E.M., Neal D.E., Donovan J.L., Hamdy F.C., Martin R.M., Travis R.C., Key T.J., Hamilton R.J., Fleshner N.E., Finelli A., Ingles S.A., Stern M.C., Rosenstein B., Kerns S., Ostrer H., Lu Y.-J., Zhang H.-W., Feng N., Mao X., Guo X., Wang G., Sun Z., Giles G.G., Southey M.C., MacInnis R.J., Fitzgerald L.M., Kibel A.S., Drake B.F., Vega A., Gomez-Caamano A., Fachal L., Szulkin R., Eklund M., Kogevinas M., Llorca J., Castano-Vinyals G., Penney K.L., Park J.Y., Sellers T.A., Lin H.-Y., Stanford J.L., Cybulski C., Wokolorczyk D., Lubinski J., Ostrander E.A., Geybels M.S., Nordestgaard Bo.G., Nielsen S.F., Weisher M., Bisbjerg R., Roder M.A., Iversen P., Brenner H., Cuk K., Holleczek B., Maier C., Luedeke M., Schnoeller T., Kim J., Logothetis C.J., John E.M., Teixeira M.R., Paulo P., Cardoso M., Neuhausen S.L., Steele L., Ding Y.C., De Ruyck K., De Meerleer G., Ost P., Razack A., Lim J., Teo S.-H., Lin D.W., Newcomb L.F., Lessel D., Gamulin M., Kulis T., Kaneva R., Usmani N., Slavov C., Mitev V., Parliament M., Singhal S., Claessens F., Joniau S., Van Den Broeck T., Larkin S., Townsend P.A., Aukim-Hastie C., Gago-Dominguez M., Castelao J.E., Martinez M.E., Roobol M.J., Jenster G., Van Schaik R.H.N., Menegaux F., Truong T., Koudou Y.A., Xu J., Khaw K.-T., Cannon-Albright L., Pandha H., Michael A., Kierzek A., Thibodeau S.N., McDonnell S.K., Schaid D.J., Lindstrom S., Turman C., Ma J., Hunter D.J., Riboli E., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Hoover R.N., Machiela M.J., Kraft P., Cook M., Thwaites A., Guy M., Whitmore I., Morgan A., Fisher C., Hazel S., Livni N., Spurdle A., Srinivasan S., Kedda M.-A., Aitken J., Gardiner R., Hayes V., Butler L., Taylor R., Yeadon T., Eckert A., Saunders P., Haynes A.-M., Kujala P., Talala K., Murtola T., Taari K., Dearnaley D., Barnett G., Bentzen So., and Elliott R.
Abstract: Prostate cancer is a polygenic disease with a large heritable component. A number of common, low-penetrance prostate cancer risk loci have been identified through GWAS. Here we apply the Bayesian multivariate variable selection algorithm JAM to fine-map 84 prostate cancer susceptibility loci, using summary data from a large European ancestry meta-analysis. We observe evidence for multiple independent signals at 12 regions and 99 risk signals overall. Only 15 original GWAS tag SNPs remain among the catalogue of candidate variants identified; the remainder are replaced by more likely candidates. Biological annotation of our credible set of variants indicates significant enrichment within promoter and enhancer elements, and transcription factor-binding sites, including AR, ERG and FOXA1. In 40 regions at least one variant is colocalised with an eQTL in prostate cancer tissue. The refined set of candidate variants substantially increase the proportion of familial relative risk explained by these known susceptibility regions, which highlights the importance of fine-mapping studies and has implications for clinical risk profiling.Copyright © 2018 The Author(s).
Published: 2018

35. Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.

Author: Izatt L., Davidson R., Ruijs M., Helderman-Van Den Enden A.T., Andrews L., Walker L., Snape K., Henderson A., Jobson I., Lindeman G.J., Liljegren A., Harris M., Adank M.A., Kirk J., Taylor A., Susman R., Chen-Shtoyerman R., Pachter N., Spigelman A., Side L., Zgajnar J., Mora J., Brewer C., Gadea N., Brady A.F., Gallagher D., Van Os T., Donaldson A., Stefansdottir V., Barwell J., James P.A., Murphy D., Friedman E., Nicolai N., Greenhalgh L., Obeid E., Murthy V., Copakova L., McGrath J., Teo S.-H., Strom S., Kast K., Leongamornlert D.A., Chamberlain A., Pope J., Newlin A.C., Aaronson N., Ardern-Jones A., Bangma C., Castro E., Dearnaley D., Eyfjord J., Falconer A., Foster C.S., Gronberg H., Hamdy F.C., Johannsson O., Khoo V., Lubinski J., Grindedal E.M., McKinley J., Shackleton K., Mitra A.V., Moynihan C., Rennert G., Suri M., Tricker K., Moss S., Kote-Jarai Z., Vickers A., Lilja H., Helfand B.T., Eeles R.A., Mikropoulos C., Selkirk C.G.H., Saya S., Bancroft E., Vertosick E., Dadaev T., Brendler C., Page E., Dias A., Evans D.G., Rothwell J., Maehle L., Axcrona K., Richardson K., Eccles D., Jensen T., Osther P.J., Van Asperen C.J., Vasen H., Kiemeney L.A., Ringelberg J., Cybulski C., Wokolorczyk D., Hart R., Glover W., Lam J., Taylor L., Salinas M., Feliubadalo L., Oldenburg R., Cremers R., Verhaegh G., Van Zelst-Stams W.A., Oosterwijk J.C., Cook J., Rosario D.J., Buys S.S., Conner T., Domchek S., Powers J., Ausems M.G., Teixeira M.R., Maia S., Schmutzler R., Rhiem K., Foulkes W.D., Boshari T., Izatt L., Davidson R., Ruijs M., Helderman-Van Den Enden A.T., Andrews L., Walker L., Snape K., Henderson A., Jobson I., Lindeman G.J., Liljegren A., Harris M., Adank M.A., Kirk J., Taylor A., Susman R., Chen-Shtoyerman R., Pachter N., Spigelman A., Side L., Zgajnar J., Mora J., Brewer C., Gadea N., Brady A.F., Gallagher D., Van Os T., Donaldson A., Stefansdottir V., Barwell J., James P.A., Murphy D., Friedman E., Nicolai N., Greenhalgh L., Obeid E., Murthy V., Copakova L., McGrath J., Teo S.-H., Strom S., Kast K., Leongamornlert D.A., Chamberlain A., Pope J., Newlin A.C., Aaronson N., Ardern-Jones A., Bangma C., Castro E., Dearnaley D., Eyfjord J., Falconer A., Foster C.S., Gronberg H., Hamdy F.C., Johannsson O., Khoo V., Lubinski J., Grindedal E.M., McKinley J., Shackleton K., Mitra A.V., Moynihan C., Rennert G., Suri M., Tricker K., Moss S., Kote-Jarai Z., Vickers A., Lilja H., Helfand B.T., Eeles R.A., Mikropoulos C., Selkirk C.G.H., Saya S., Bancroft E., Vertosick E., Dadaev T., Brendler C., Page E., Dias A., Evans D.G., Rothwell J., Maehle L., Axcrona K., Richardson K., Eccles D., Jensen T., Osther P.J., Van Asperen C.J., Vasen H., Kiemeney L.A., Ringelberg J., Cybulski C., Wokolorczyk D., Hart R., Glover W., Lam J., Taylor L., Salinas M., Feliubadalo L., Oldenburg R., Cremers R., Verhaegh G., Van Zelst-Stams W.A., Oosterwijk J.C., Cook J., Rosario D.J., Buys S.S., Conner T., Domchek S., Powers J., Ausems M.G., Teixeira M.R., Maia S., Schmutzler R., Rhiem K., Foulkes W.D., and Boshari T.
Abstract: Background:Prostate-specific antigen (PSA) and PSA-velocity (PSAV) have been used to identify men at risk of prostate cancer (PrCa). The IMPACT study is evaluating PSA screening in men with a known genetic predisposition to PrCa due to BRCA1/2 mutations. This analysis evaluates the utility of PSA and PSAV for identifying PrCa and high-grade disease in this cohort. Method(s):PSAV was calculated using logistic regression to determine if PSA or PSAV predicted the result of prostate biopsy (PB) in men with elevated PSA values. Cox regression was used to determine whether PSA or PSAV predicted PSA elevation in men with low PSAs. Interaction terms were included in the models to determine whether BRCA status influenced the predictiveness of PSA or PSAV. Result(s):1634 participants had 3/43 PSA readings of whom 174 underwent PB and 45 PrCas diagnosed. In men with PSA >3.0 ng ml -l, PSAV was not significantly associated with presence of cancer or high-grade disease. PSAV did not add to PSA for predicting time to an elevated PSA. When comparing BRCA1/2 carriers to non-carriers, we found a significant interaction between BRCA status and last PSA before biopsy (P=0.031) and BRCA2 status and PSAV (P=0.024). However, PSAV was not predictive of biopsy outcome in BRCA2 carriers. Conclusion(s):PSA is more strongly predictive of PrCa in BRCA carriers than non-carriers. We did not find evidence that PSAV aids decision-making for BRCA carriers over absolute PSA value alone.
Published: 2018

36. Germline variation at 8q24 and prostate cancer risk in men of European ancestry

Author: Matejcic, M. (Marco), Saunders, E.J. (Edward J.), Dadaev, T. (Tokhir), Brook, R.H., Wang, K. (Kan), Sheng, X. (Xin), Olama, A.A.A. (Ali Amin Al), Schumacher, F. (Fredrick), Ingles, S.A. (Sue), Govindasami, K. (Koveela), Benlloch, S. (Sara), Berndt, S.I. (Sonja), Albanes, D. (Demetrius), Koutros, S. (Stella), Muir, K. (Kenneth), Stevens, V.L. (Victoria L.), Gapstur, S.M. (Susan M.), Tangen, C.M. (Catherine M.), Batra, J. (Jyotsna), Clements, J. (Judith), Grönberg, H. (Henrik), Pashayan, N. (Nora), Schleutker, J. (Johanna), Wolk, K. (Kerstin), West, C. (Catharine), Mucci, L. (Lorelei), Kraft, P. (Peter), Cancel-Tassin, G. (Géraldine), Sorensen, K.D. (Karina D.), Maehle, L., Grindedal, E.M. (Eli M.), Strom, S., Neal, D. (David), Hamdy, F. (Freddie), Donovan, J. (Jenny), Travis, S.P.L. (Simon), Hamilton, R.J. (Robert J.), Rosenstein, B.S. (Barry S.), Lu, Y.-J. (Yong-Jie), Giles, G.G. (Graham G.), Kibel, A. (Adam), Vega, A. (Ana), Bensen, J.T. (Jeanette T.), Kogevinas, M. (Manolis), Penney, K.L. (Kathryn L.), Park, J.Y. (Jong Y.), Stanford, J.L. (Janet L.), Cybulski, C. (Cezary), Nordestgaard, B.G. (Børge), Brenner, H. (Hermann), Maier, C. (Christiane), Kim, J. (Jongoh), Teixeira, P.J., Neuhausen, S.L. (Susan), De Ruyck, K. (Kim), Razack, A. (Azad), Newcomb, L.F. (Lisa F.), Lessel, D. (Davor), Kaneva, R. (Radka), Usmani, N. (Nawaid), Claessens, F. (Frank), Townsend, P.A. (Paul A.), Dominguez, M.G. (Manuela G.), Roobol-Bouts, M.J. (Monique), Menegaux, F. (Florence), Khaw, K.-T. (Kay-Tee), Cannon-Albright, L.A. (Lisa), Pandha, H. (Hardev), Thibodeau, S.N. (Stephen N.), Schaid, D.J. (D.), Wiklund, F. (Fredrik), Chanock, S.J. (Stephen J.), Easton, D.F. (Douglas), Eeles, R.A. (Rosalind A.), Kote-Jarai, Z., Conti, G. (Giario), Haiman, C.A. (Christopher), Matejcic, M. (Marco), Saunders, E.J. (Edward J.), Dadaev, T. (Tokhir), Brook, R.H., Wang, K. (Kan), Sheng, X. (Xin), Olama, A.A.A. (Ali Amin Al), Schumacher, F. (Fredrick), Ingles, S.A. (Sue), Govindasami, K. (Koveela), Benlloch, S. (Sara), Berndt, S.I. (Sonja), Albanes, D. (Demetrius), Koutros, S. (Stella), Muir, K. (Kenneth), Stevens, V.L. (Victoria L.), Gapstur, S.M. (Susan M.), Tangen, C.M. (Catherine M.), Batra, J. (Jyotsna), Clements, J. (Judith), Grönberg, H. (Henrik), Pashayan, N. (Nora), Schleutker, J. (Johanna), Wolk, K. (Kerstin), West, C. (Catharine), Mucci, L. (Lorelei), Kraft, P. (Peter), Cancel-Tassin, G. (Géraldine), Sorensen, K.D. (Karina D.), Maehle, L., Grindedal, E.M. (Eli M.), Strom, S., Neal, D. (David), Hamdy, F. (Freddie), Donovan, J. (Jenny), Travis, S.P.L. (Simon), Hamilton, R.J. (Robert J.), Rosenstein, B.S. (Barry S.), Lu, Y.-J. (Yong-Jie), Giles, G.G. (Graham G.), Kibel, A. (Adam), Vega, A. (Ana), Bensen, J.T. (Jeanette T.), Kogevinas, M. (Manolis), Penney, K.L. (Kathryn L.), Park, J.Y. (Jong Y.), Stanford, J.L. (Janet L.), Cybulski, C. (Cezary), Nordestgaard, B.G. (Børge), Brenner, H. (Hermann), Maier, C. (Christiane), Kim, J. (Jongoh), Teixeira, P.J., Neuhausen, S.L. (Susan), De Ruyck, K. (Kim), Razack, A. (Azad), Newcomb, L.F. (Lisa F.), Lessel, D. (Davor), Kaneva, R. (Radka), Usmani, N. (Nawaid), Claessens, F. (Frank), Townsend, P.A. (Paul A.), Dominguez, M.G. (Manuela G.), Roobol-Bouts, M.J. (Monique), Menegaux, F. (Florence), Khaw, K.-T. (Kay-Tee), Cannon-Albright, L.A. (Lisa), Pandha, H. (Hardev), Thibodeau, S.N. (Stephen N.), Schaid, D.J. (D.), Wiklund, F. (Fredrik), Chanock, S.J. (Stephen J.), Easton, D.F. (Douglas), Eeles, R.A. (Rosalind A.), Kote-Jarai, Z., Conti, G. (Giario), and Haiman, C.A. (Christopher)
Abstract: Chromosome 8q24 is a susceptibility locus for multiple cancers, including prostate cancer. Here we combine genetic data across the 8q24 susceptibility region from 71,535 prostate cancer cases and 52,935 controls of European ancestry to define the overall contribution of germline variation at 8q24 to prostate cancer risk. We identify 12 independent risk signals for prostate cancer (p < 4.28 × 10-15), including three risk variants that have yet to be reported. From a polygenic risk score (PRS) model, derived to assess the cumulative effect of risk variants at 8q24, men in the top 1% of the PRS have a 4-fold (95%CI = 3.62-4.40) greater risk compared to the population average. These 12 variants account for ~25% of what can be currently explained of the familial risk of prostate cancer by known genetic risk factors. These findings highlight the overwhelming contribution of germline variation at 8q24 on prostate cancer risk which has implications for population risk stratification.
Published: 2018
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37. Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma

Author: Went, M. (Molly), Sud, A. (Amit), Försti, A. (Asta), Halvarsson, B.-M. (Britt-Marie), Weinhold, N. (Niels), Kimber, S. (Scott), Duin, M. (Mark) van, Thorleifsson, G. (Gudmar), Holroyd, A. (Amy), Johnson, D.C. (David C.), Li, N. (Ni), Orlando, G. (Giulia), Law, P.J. (Philip J.), Ali, M. (Mina), Chen, B. (Bowang), Mitchell, J.S. (Jonathan S.), Gudbjartsson, D.F. (Daniel), Kuiper, R. (Ruud), Stephens, O.W. (Owen W.), Bertsch, U. (Uta), Broderick, P. (Peter), Campo, C. (Chiara), Bandapalli, O.R. (Obul R), Einsele, H. (Hermann), Gregory, W.A. (Walter A.), Gullberg, U. (Urban), Hillengass, J. (Jens), Hoffmann, P. (Per), Jackson, G.H. (Graham H.), JöCkel, K.-H. (Karl-Heinz), Johnsson, E. (Ellinor), Kristinsson, S.Y. (Sigurður Y.), Mellqvist, U.H. (U. H.), Nahi, H. (Hareth), Easton, D.F. (Douglas), Pharoah, P. (Paul), Dunning, A. (Alison), Peto, J. (Julian), Canzian, F. (Federico), Swerdlow, A.J. (Anthony ), Eeles, R.A. (Rosalind A.), Kote-Jarai, Z., Muir, K. (Kenneth), Pashayan, N. (Nora), Nickel, J. (Jolanta), Nöthen, M.M. (Markus), Rafnar, T. (Thorunn), Ross, F.M. (Fiona M.), da Silva Filho, M.I. (Miguel Inacio), Thomsen, H. (Hauke), Turesson, I. (I.), Vangsted, A. (Annette), Andersen, N.F. (Niels Frost), Waage, A. (Anders), Walker, B. (BrianA.), Wihlborg, A.-K. (Anna-Karin), Broyl, A. (Annemiek), Davies, F.E. (F.), Thorsteinsdottir, U. (Unnur), Langer, C. (Christian), Hansson, M. (Markus), Goldschmidt, H. (Hartmut), Kaiser, M.F. (Martin F.), Sonneveld, P. (Pieter), Zwart, J-A. (John-Anker), Morgan, G. (Gareth), Hemminki, K. (Kari), Nilsson, B. (Björn), Houlston, R.S. (Richard S.), Henderson, B.E. (Brian), Haiman, C.A. (Christopher), Benlloch, S. (Sara), Schumacher, F.R. (Fredrick R), Olama, A.A.A. (Ali Amin Al), Berndt, S.I. (Sonja), Conti, G. (Giario), Wiklund, F. (Fredrik), Chanock, S.J. (Stephen), Stevens, V.L. (Victoria L.), Tangen, C.M. (Catherine M.), Batra, J. (Jyotsna), Clements, J. (Judith), Grönberg, H. (Henrik), Schleutker, J. (Johanna), Albanes, D. (Demetrius), Weinstein, S. (Stephanie), Wolk, K. (Kerstin), West, C. (Catharine), Mucci, L. (Lorelei), Cancel-Tassin, G. (Géraldine), Koutros, S. (Stella), Sorensen, K.D. (Karina Dalsgaard), Grindedal, E.M. (Eli Marie), Neal, D.E. (David E.), Hamdy, F. (Freddie), Donovan, J.L. (Jenny L.), Travis, S.P.L. (Simon), Hamilton, R.J. (Robert J.), Ingles, S.A. (Sue), Rosenstein, B.S. (Barry S.), Lu, Y.-J. (Yong-Jie), Giles, G.G. (Graham G.), Kibel, A. (Adam), Vega, A. (Ana), Kogevinas, M. (Manolis), Penney, K.L. (Kathryn L.), Park, J.Y. (Jong Y.), Stanford, J.L. (Janet L.), Cybulski, C. (Cezary), Nordestgaard, B.G. (Børge), Brenner, H. (Hermann), Maier, C. (Christiane), Kim, J. (Jeri), John, E.M. (Esther), Teixeira, P.J., Neuhausen, S.L. (Susan), De Ruyck, K. (Kim), Razack, A. (Azad), Newcomb, L.F. (Lisa F.), Lessel, D. (Davor), Kaneva, R. (Radka), Usmani, N. (Nawaid), Claessens, F., Townsend, P.A. (Paul A.), Dominguez, M.G. (Manuela Gago), Roobol-Bouts, M.J. (Monique), Menegaux, F. (Florence), Khaw, K.-T. (Kay-Tee), Cannon-Albright, L.A. (Lisa), Pandha, H. (Hardev), Thibodeau, S.N. (Stephen N.), Went, M. (Molly), Sud, A. (Amit), Försti, A. (Asta), Halvarsson, B.-M. (Britt-Marie), Weinhold, N. (Niels), Kimber, S. (Scott), Duin, M. (Mark) van, Thorleifsson, G. (Gudmar), Holroyd, A. (Amy), Johnson, D.C. (David C.), Li, N. (Ni), Orlando, G. (Giulia), Law, P.J. (Philip J.), Ali, M. (Mina), Chen, B. (Bowang), Mitchell, J.S. (Jonathan S.), Gudbjartsson, D.F. (Daniel), Kuiper, R. (Ruud), Stephens, O.W. (Owen W.), Bertsch, U. (Uta), Broderick, P. (Peter), Campo, C. (Chiara), Bandapalli, O.R. (Obul R), Einsele, H. (Hermann), Gregory, W.A. (Walter A.), Gullberg, U. (Urban), Hillengass, J. (Jens), Hoffmann, P. (Per), Jackson, G.H. (Graham H.), JöCkel, K.-H. (Karl-Heinz), Johnsson, E. (Ellinor), Kristinsson, S.Y. (Sigurður Y.), Mellqvist, U.H. (U. H.), Nahi, H. (Hareth), Easton, D.F. (Douglas), Pharoah, P. (Paul), Dunning, A. (Alison), Peto, J. (Julian), Canzian, F. (Federico), Swerdlow, A.J. (Anthony ), Eeles, R.A. (Rosalind A.), Kote-Jarai, Z., Muir, K. (Kenneth), Pashayan, N. (Nora), Nickel, J. (Jolanta), Nöthen, M.M. (Markus), Rafnar, T. (Thorunn), Ross, F.M. (Fiona M.), da Silva Filho, M.I. (Miguel Inacio), Thomsen, H. (Hauke), Turesson, I. (I.), Vangsted, A. (Annette), Andersen, N.F. (Niels Frost), Waage, A. (Anders), Walker, B. (BrianA.), Wihlborg, A.-K. (Anna-Karin), Broyl, A. (Annemiek), Davies, F.E. (F.), Thorsteinsdottir, U. (Unnur), Langer, C. (Christian), Hansson, M. (Markus), Goldschmidt, H. (Hartmut), Kaiser, M.F. (Martin F.), Sonneveld, P. (Pieter), Zwart, J-A. (John-Anker), Morgan, G. (Gareth), Hemminki, K. (Kari), Nilsson, B. (Björn), Houlston, R.S. (Richard S.), Henderson, B.E. (Brian), Haiman, C.A. (Christopher), Benlloch, S. (Sara), Schumacher, F.R. (Fredrick R), Olama, A.A.A. (Ali Amin Al), Berndt, S.I. (Sonja), Conti, G. (Giario), Wiklund, F. (Fredrik), Chanock, S.J. (Stephen), Stevens, V.L. (Victoria L.), Tangen, C.M. (Catherine M.), Batra, J. (Jyotsna), Clements, J. (Judith), Grönberg, H. (Henrik), Schleutker, J. (Johanna), Albanes, D. (Demetrius), Weinstein, S. (Stephanie), Wolk, K. (Kerstin), West, C. (Catharine), Mucci, L. (Lorelei), Cancel-Tassin, G. (Géraldine), Koutros, S. (Stella), Sorensen, K.D. (Karina Dalsgaard), Grindedal, E.M. (Eli Marie), Neal, D.E. (David E.), Hamdy, F. (Freddie), Donovan, J.L. (Jenny L.), Travis, S.P.L. (Simon), Hamilton, R.J. (Robert J.), Ingles, S.A. (Sue), Rosenstein, B.S. (Barry S.), Lu, Y.-J. (Yong-Jie), Giles, G.G. (Graham G.), Kibel, A. (Adam), Vega, A. (Ana), Kogevinas, M. (Manolis), Penney, K.L. (Kathryn L.), Park, J.Y. (Jong Y.), Stanford, J.L. (Janet L.), Cybulski, C. (Cezary), Nordestgaard, B.G. (Børge), Brenner, H. (Hermann), Maier, C. (Christiane), Kim, J. (Jeri), John, E.M. (Esther), Teixeira, P.J., Neuhausen, S.L. (Susan), De Ruyck, K. (Kim), Razack, A. (Azad), Newcomb, L.F. (Lisa F.), Lessel, D. (Davor), Kaneva, R. (Radka), Usmani, N. (Nawaid), Claessens, F., Townsend, P.A. (Paul A.), Dominguez, M.G. (Manuela Gago), Roobol-Bouts, M.J. (Monique), Menegaux, F. (Florence), Khaw, K.-T. (Kay-Tee), Cannon-Albright, L.A. (Lisa), Pandha, H. (Hardev), and Thibodeau, S.N. (Stephen N.)
Abstract: Genome-wide association studies (GWAS) have transformed our understanding of susceptibility to multiple myeloma (MM), but much of the heritability remains unexplained. We report a new GWAS, a meta-analysis with previous GWAS and a replication series, totalling 9974 MM cases and 247,556 controls of European ancestry. Collectively, these data provide evidence for six new MM risk loci, bringing the total number to 23. Integration of information from gene expression, epigenetic profiling and in situ Hi-C data for the 23 risk loci implicate disruption of developmental transcriptional regulators as a basis of MM susceptibility, compatible with altered B-cell differentiation as a key mechanism. Dysregulation of autophagy/apoptosis and cell cycle signalling feature as recurrently perturbed pathways. Our findings provide further insight i
Published: 2018
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38. Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia

Author: Vijayakrishnan, J. (Jayaram), Studd, J. (James), Broderick, P. (Peter), Kinnersley, B. (Ben), Holroyd, A. (Amy), Law, P.J. (Philip J.), Kumar, R., Allan, J.M. (James M.), Harrison, C.J. (Christine), Moorman, A.V. (Anthony), Vora, A. (Ajay), Roman, E. (Eve), Rachakonda, S. (Sivaramakrishna), Kinsey, S.E. (Sally E.), Sheridan, E. (Eamonn), Thompson, P.D. (Pamela D.), Irving, J. (Julie), Koehler, R. (Rolf), Hoffmann, P. (Per), Nöthen, M.M. (Markus), Heilmann-Heimbach, S. (Stefanie), JöCkel, K.-H. (Karl-Heinz), Easton, D.F. (Douglas), Pharaoh, P.D.P. (Paul), Dunning, A.M. (Alison), Peto, J. (Julian), Canzian, F. (Frederico), Swerdlow, A.J. (Anthony ), Eeles, R.A. (Rosalind A.), Kote-Jarai, Z., Muir, K. (Kenneth), Pashayan, N. (Nora), Greaves, M.F. (Mel), Zimmerman, M. (Martin), Bartram, C.R. (Claus), Schrappe, M. (Martin), Stanulla, M. (Martin), Hemminki, K. (Kari), Houlston, R.S. (Richard S.), Vijayakrishnan, J. (Jayaram), Studd, J. (James), Broderick, P. (Peter), Kinnersley, B. (Ben), Holroyd, A. (Amy), Law, P.J. (Philip J.), Kumar, R., Allan, J.M. (James M.), Harrison, C.J. (Christine), Moorman, A.V. (Anthony), Vora, A. (Ajay), Roman, E. (Eve), Rachakonda, S. (Sivaramakrishna), Kinsey, S.E. (Sally E.), Sheridan, E. (Eamonn), Thompson, P.D. (Pamela D.), Irving, J. (Julie), Koehler, R. (Rolf), Hoffmann, P. (Per), Nöthen, M.M. (Markus), Heilmann-Heimbach, S. (Stefanie), JöCkel, K.-H. (Karl-Heinz), Easton, D.F. (Douglas), Pharaoh, P.D.P. (Paul), Dunning, A.M. (Alison), Peto, J. (Julian), Canzian, F. (Frederico), Swerdlow, A.J. (Anthony ), Eeles, R.A. (Rosalind A.), Kote-Jarai, Z., Muir, K. (Kenneth), Pashayan, N. (Nora), Greaves, M.F. (Mel), Zimmerman, M. (Martin), Bartram, C.R. (Claus), Schrappe, M. (Martin), Stanulla, M. (Martin), Hemminki, K. (Kari), and Houlston, R.S. (Richard S.)
Abstract: Genome-wide association studies (GWAS) have advanced our understanding of susceptibility to B-cell precursor acute lymphoblastic leukemia (BCP-ALL); however, much of the heritable risk remains unidentified. Here, we perform a GWAS and conduct a meta-analysis with two existing GWAS, totaling 2442 cases and 14,609 controls. We identify risk loci for BCP-ALL at 8q24.21 (rs28665337, P = 3.86 × 10-9, odds ratio (OR) = 1.34) and for ETV6-RUNX1 fusion-positive BCP-ALL at 2q22.3 (rs17481869, P = 3.20 × 10-8, OR = 2.14). Our findings provide further insights into genetic susceptibility to ALL and its biology.
Published: 2018
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39. Hormone replacement therapy and survival after surgery for ovarian cancer

Author: Eeles, R.A., Tan, S., Wiltshaw, E., Fryatt, I., A'Hern, R.P., Shepherd, J.H., Harmer, C.L., Blake, P.R., and Chilvers, C.E.D.
Subjects: Ovarian cancer -- Prognosis, Hormone therapy -- Health aspects
Published: 1991

40. Rationale for a national multi-centre study of magnetic resonance imaging screening in women at genetic risk of breast cancer

Author: Brown, J., Coulthard, A., Dixon, A.K., Dixon, J.M., Easton, D.F., Eeles, R.A., Evans, D.G.R., Gilbert, F.G., Hayes, C., Jenkins, J.P.R., Leach, M.O., Moss, S.M., Padhani, A.P., Pointon, L.J., Ponder, B.A.J., Sloane, J.P., Turnbull, L.W., Walker, L.G., Warren, R.M.L., and Watson, W.
Published: 2000
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41. Protocol for a national multi-centre study of magnetic resonance imaging screening in women at genetic risk of breast cancer

Author: Brown, J., Coulthard, A., Dixon, A.K., Dixon, J.M., Easton, D.F., Eeles, R.A., Evans, D.G.R., Gilbert, F.G., Hayes, C., Jenkins, J.P.R., Leach, M.O., Moss, S.M., Padhani, A.P., Pointon, L.J., Ponder, B.A.J., Sloane, J.P., Turnbull, L.W., Walker, L.G., Warren, R.M.L., and Watson, W.
Published: 2000
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42. Magnetic resonance imaging screening in women at genetic risk of breast cancer: imaging and analysis protocol for the UK multicentre study

Author: Brown, J, Buckley, D, Coulthard, A, Dixon, A.K, Dixon, J.M, Easton, D.F, Eeles, R.A, Evans, D.G.R, Gilbert, F.G, Graves, M, Hayes, C, Jenkins, J.P.R, Jones, A.P, Keevil, S.F, Leach, M.O, Liney, G.P, Moss, S.M, Padhani, A.R, Parker, G.J.M, Pointon, L.J, Ponder, B.A.J, Redpath, T.W, Sloane, J.P, Turnbull, L.W, Walker, L.G, and Warren, R.M.L
Published: 2000
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43. Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study

Author: Haycock, P.C., Burgess, S., Nounu, A., Zheng, J., Okoli, G.N., Bowden, J., Wade, K.H., Timpson, N.J., Evans, D.M., Willeit, P., Aviv, A., Gaunt, T.R., Hemani, G., Mangino, M., Ellis, H.P., Kurian, K.M., Pooley, K.A., Eeles, R.A., Lee, J.E., Fang, S., Chen, W.V., Law, M.H., Bowdler, L.M., Iles, M.M., Yang, Q., Worrall, B.B., Markus, H.S., Hung, R.J., Amos, C.I., Spurdle, A.B., Thompson, D.J., O'Mara, T.A., Wolpin, B., Amundadottir, L., Stolzenberg-Solomon, R., Trichopoulou, A., Onland-Moret, N.C., Lund, E., Duell, E.J., Canzian, F., Severi, G., Overvad, K., Gunter, M.J., Tumino, R., Svenson, U., Rij, A. van, Baas, A.F., Bown, M.J., Samani, N.J., t'Hof, F.N.G. van, Tromp, G., Jones, G.T., Kuivaniemi, H., Elmore, J.R., Johansson, M., McKay, J., Scelo, G., Carreras-Torres, R., Gaborieau, V., Brennan, P., Bracci, P.M., Neale, R.E., Olson, S.H., Gallinger, S., Li, D., Petersen, G.M., Risch, H.A., Klein, A.P., Han, J., Abnet, C.C., Freedman, N.D., Taylor, P.R., Maris, J.M., Aben, K.K.H., Kiemeney, L.A., Vermeulen, S.H., Wiencke, J.K., Walsh, K.M., Wrensch, M., Rice, T., Turnbull, C., Litchfield, K., Paternoster, L., Standl, M., Abecasis, G.R., SanGiovanni, J.P., Li, Y., Mijatovic, V., Sapkota, Y., Low, S.K., Zondervan, K.T., Montgomery, G.W., Nyholt, D.R., Heel, D.A. van, Hunt, K., Arking, D.E., Ashar, F.N., Sotoodehnia, N., Woo, D., et al., Haycock, P.C., Burgess, S., Nounu, A., Zheng, J., Okoli, G.N., Bowden, J., Wade, K.H., Timpson, N.J., Evans, D.M., Willeit, P., Aviv, A., Gaunt, T.R., Hemani, G., Mangino, M., Ellis, H.P., Kurian, K.M., Pooley, K.A., Eeles, R.A., Lee, J.E., Fang, S., Chen, W.V., Law, M.H., Bowdler, L.M., Iles, M.M., Yang, Q., Worrall, B.B., Markus, H.S., Hung, R.J., Amos, C.I., Spurdle, A.B., Thompson, D.J., O'Mara, T.A., Wolpin, B., Amundadottir, L., Stolzenberg-Solomon, R., Trichopoulou, A., Onland-Moret, N.C., Lund, E., Duell, E.J., Canzian, F., Severi, G., Overvad, K., Gunter, M.J., Tumino, R., Svenson, U., Rij, A. van, Baas, A.F., Bown, M.J., Samani, N.J., t'Hof, F.N.G. van, Tromp, G., Jones, G.T., Kuivaniemi, H., Elmore, J.R., Johansson, M., McKay, J., Scelo, G., Carreras-Torres, R., Gaborieau, V., Brennan, P., Bracci, P.M., Neale, R.E., Olson, S.H., Gallinger, S., Li, D., Petersen, G.M., Risch, H.A., Klein, A.P., Han, J., Abnet, C.C., Freedman, N.D., Taylor, P.R., Maris, J.M., Aben, K.K.H., Kiemeney, L.A., Vermeulen, S.H., Wiencke, J.K., Walsh, K.M., Wrensch, M., Rice, T., Turnbull, C., Litchfield, K., Paternoster, L., Standl, M., Abecasis, G.R., SanGiovanni, J.P., Li, Y., Mijatovic, V., Sapkota, Y., Low, S.K., Zondervan, K.T., Montgomery, G.W., Nyholt, D.R., Heel, D.A. van, Hunt, K., Arking, D.E., Ashar, F.N., Sotoodehnia, N., Woo, D., and et al.
Abstract: Contains fulltext : 174181.pdf (publisher's version ) (Closed access), Importance: The causal direction and magnitude of the association between telomere length and incidence of cancer and non-neoplastic diseases is uncertain owing to the susceptibility of observational studies to confounding and reverse causation. Objective: To conduct a Mendelian randomization study, using germline genetic variants as instrumental variables, to appraise the causal relevance of telomere length for risk of cancer and non-neoplastic diseases. Data Sources: Genomewide association studies (GWAS) published up to January 15, 2015. Study Selection: GWAS of noncommunicable diseases that assayed germline genetic variation and did not select cohort or control participants on the basis of preexisting diseases. Of 163 GWAS of noncommunicable diseases identified, summary data from 103 were available. Data Extraction and Synthesis: Summary association statistics for single nucleotide polymorphisms (SNPs) that are strongly associated with telomere length in the general population. Main Outcomes and Measures: Odds ratios (ORs) and 95% confidence intervals (CIs) for disease per standard deviation (SD) higher telomere length due to germline genetic variation. Results: Summary data were available for 35 cancers and 48 non-neoplastic diseases, corresponding to 420081 cases (median cases, 2526 per disease) and 1093105 controls (median, 6789 per disease). Increased telomere length due to germline genetic variation was generally associated with increased risk for site-specific cancers. The strongest associations (ORs [95% CIs] per 1-SD change in genetically increased telomere length) were observed for glioma, 5.27 (3.15-8.81); serous low-malignant-potential ovarian cancer, 4.35 (2.39-7.94); lung adenocarcinoma, 3.19 (2.40-4.22); neuroblastoma, 2.98 (1.92-4.62); bladder cancer, 2.19 (1.32-3.66); melanoma, 1.87 (1.55-2.26); testicular cancer, 1.76 (1.02-3.04); kidney cancer, 1.55 (1.08-2.23); and endometrial cancer, 1.31 (1.07-1.61). Associations were stronger for rarer cance
Published: 2017

44. Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci

Author: Al Olama, A.A., Benlloch, S., Antoniou, A.C., Giles, G.G., Severi, G., Neal, D.E., Hamdy, F.C., Donovan, J.L., Muir, K., Schleutker, J., Henderson, B.E., Haiman, C.A., Schumacher, F.R., Pashayan, N., Pharoah, P.D.P., Ostrander, E.A., Stanford, J.L., Batra, J., Clements, J.A., Chambers, S.K., Weischer, M., Nordestgaard, B.G., Ingles, S.A., Sorensen, K.D., Orntoft, T.F., Park, J.Y., Cybulski, C., Maier, C., Doerk, T., Dickinson, J.L., Cannon-Albright, L., Brenner, H., Rebbeck, T.R., Zeigler-Johnson, C., Habuchi, T., Thibodeau, S.N., Cooney, K.A., Chappuis, P.O., Hutter, P., Kaneva, R.P., Foulkes, W.D., Zeegers, M.P., Lu, Y-J., Zhang, H-W., Stephenson, R., Cox, A., Southey, M.C., Spurdle, A.B., FitzGerald, L., Leongamornlert, D., Saunders, E., Tymrakiewicz, M., Guy, M., Dadaev, T., Little, S.J., Govindasami, K., Sawyer, E., Wilkinson, R., Herkommer, K., Hopper, J.L., Lophatonanon, A., Rinckleb, A.E., Kote-Jarai, Z., Eeles, R.A., Easton, D.F., Surgeons, B.A.U., Collaborators, U.K.P.S., Consortium, PRACTICAL., Amin Al Olama, Ali [0000-0002-7178-3431], Antoniou, Antonis [0000-0001-9223-3116], Pharoah, Paul [0000-0001-8494-732X], Easton, Douglas [0000-0003-2444-3247], and Apollo - University of Cambridge Repository
Subjects: Adult, Aged, 80 and over, Male, Genotype, Genetic Variation, Prostatic Neoplasms, Middle Aged, urologic and male genital diseases, Risk Assessment, Risk Factors, Odds Ratio, Humans, Genetic Predisposition to Disease, Alleles, Aged, Genome-Wide Association Study
Abstract: BACKGROUND: Genome-wide association studies have identified multiple genetic variants associated with prostate cancer risk which explain a substantial proportion of familial relative risk. These variants can be used to stratify individuals by their risk of prostate cancer. METHODS: We genotyped 25 prostate cancer susceptibility loci in 40,414 individuals and derived a polygenic risk score (PRS). We estimated empirical odds ratios (OR) for prostate cancer associated with different risk strata defined by PRS and derived age-specific absolute risks of developing prostate cancer by PRS stratum and family history. RESULTS: The prostate cancer risk for men in the top 1% of the PRS distribution was 30.6 (95% CI, 16.4-57.3) fold compared with men in the bottom 1%, and 4.2 (95% CI, 3.2-5.5) fold compared with the median risk. The absolute risk of prostate cancer by age of 85 years was 65.8% for a man with family history in the top 1% of the PRS distribution, compared with 3.7% for a man in the bottom 1%. The PRS was only weakly correlated with serum PSA level (correlation = 0.09). CONCLUSIONS: Risk profiling can identify men at substantially increased or reduced risk of prostate cancer. The effect size, measured by OR per unit PRS, was higher in men at younger ages and in men with family history of prostate cancer. Incorporating additional newly identified loci into a PRS should improve the predictive value of risk profiles. IMPACT: We demonstrate that the risk profiling based on SNPs can identify men at substantially increased or reduced risk that could have useful implications for targeted prevention and screening programs.
Published: 2015

45. The Carrier Clinic - a new model for oncological practice?

Author: ARDERN-JONES, A.T., MITCHELL, G., and EELES, R.A.
Subjects: Human genetics -- Research, Genetic disorders -- Research, Cancer -- Genetic aspects, Biological sciences
Published: 2001

46. Association between polymorphisms of the GPX1 gene and multiple primary tumours (MPT)

Author: Jefferies, S., Kote-Jarai, Z., Houlston, R., Fraser-Williams, M.-J., A'Hern, R., Foulkes, W.D., Goldgar, D., and Eeles, R.A.
Subjects: Genetic research -- Analysis, Human genetics -- Research, Head and neck cancer -- Genetic aspects, Genetic polymorphisms -- Research, Biological sciences
Published: 2000

47. The carrier clinic: an evaluation of a novel clinic dedicated to the follow-up of BRCA1 and BRCA2 carriers - implications for oncogenetics practice

Author: Bancroft, E.K., Locke, I., Ardern-Jones, A., D'Mello, L., McReynolds, K., Lennard, F., Barbachano, Y., Barwell, J., Walker, L., Mitchell, G., Dorkins, H., Cummings, C., Paterson, J., Kote-Jarai, Z., Mitra, A., Jhavar, S., Thomas S., Houlston, R., Shanley, S., and Eeles, R.A.
Subjects: BRCA mutations -- Identification and classification, BRCA mutations -- Demographic aspects, BRCA mutations -- Research, Breast cancer -- Risk factors, Breast cancer -- Research, Prostate cancer -- Risk factors, Prostate cancer -- Research, Sentinel health events -- Management, Company business management, Health
Published: 2010

48. The role of the prostate cancer gene 3 urine test in addition to serum prostate-specific antigen level in prostate cancer screening among breast cancer, early-onset gene mutation carriers

Author: Cremers, R.G.H.M., Eeles, R.A., Bancroft, E.K., Ringelberg-Borsboom, J., Vasen, H.F.A., Asperen, C.J. van, Schalken, J.A., Verhaegh, G.W.C.T., Kiemeney, L.A.L.M., Cremers, R.G.H.M., Eeles, R.A., Bancroft, E.K., Ringelberg-Borsboom, J., Vasen, H.F.A., Asperen, C.J. van, Schalken, J.A., Verhaegh, G.W.C.T., and Kiemeney, L.A.L.M.
Abstract: Contains fulltext : 154257.pdf (publisher's version ) (Open Access), OBJECTIVE: To evaluate the additive value of the prostate cancer gene 3 (PCA3) urine test to serum prostate-specific antigen (PSA) in prostate cancer (PC) screening among breast cancer, early-onset gene (BRCA) mutation carriers. This study was performed among the Dutch participants of IMPACT, a large international study on the effectiveness of PSA screening among BRCA mutation carriers. MATERIALS AND METHODS: Urinary PCA3 was measured in 191 BRCA1 mutation carriers, 75 BRCA2 mutation carriers, and 308 noncarriers. The physicians and participants were blinded for the results. Serum PSA level>/=3.0ng/ml was used to indicate prostate biopsies. PCA3 was evaluated (1) as an independent indicator for prostate biopsies and (2) as an indicator for prostate biopsies among men with an elevated PSA level. PC detected up to the 2-year screening was used as gold standard as end-of-study biopsies were not performed. RESULTS: Overall, 23 PCs were diagnosed, 20 of which were in men who had an elevated PSA level in the initial screening round. (1) PCA3, successfully determined in 552 participants, was elevated in 188 (cutoff>/=25; 34%) or 134 (cutoff>/=35; 24%) participants, including 2 of the 3 PCs missed by PSA. PCA3 would have added 157 (>/=25; 28%) or 109 (>/=35; 20%) biopsy sessions to screening with PSA only. (2) Elevated PCA3 as a requirement for biopsies in addition to PSA would have saved 37 (cutoff>/=25) or 43 (cutoff>/=35) of the 68 biopsy sessions, and 7 or 11 PCs would have been missed, respectively, including multiple high-risk PCs. So far, PCA3 performed best among BRCA2 mutation carriers, but the numbers are still small. Because PCA3 was not used to indicate prostate biopsies, its true diagnostic value cannot be calculated. CONCLUSIONS: The results do not provide evidence for PCA3 as a useful additional indicator of prostate biopsies in BRCA mutation carriers, as many participants had an elevated PCA3 in the absence of PC. This must be interpreted with caution becaus
Published: 2015

49. Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Author: Peterlongo, P., Chang-Claude, J., Moysich, K.B., Rudolph, A., Schmutzler, R.K., Simard, J., Soucy, P., Eeles, R.A., Easton, D.F., Hamann, U., Wilkening, S., Chen, B., Rookus, M.A., Schmidt, M.K., Baan, F.H. van der, Spurdle, A.B., Walker, L.C., Lose, F., Maia, A.T., Montagna, M., Matricardi, L., Lubinski, J., Jakubowska, A., Garcia, E.B., Olopade, O.I., Nussbaum, R.L., Nathanson, K.L., Domchek, S.M., Rebbeck, T.R., Arun, B.K., Karlan, B.Y., Orsulic, S., Lester, J., Chung, W.K., Miron, A., Southey, M.C., Goldgar, D.E., Buys, S.S., Janavicius, R., Dorfling, C.M., Rensburg, E.J. van, Ding, Y.C., Neuhausen, S.L., Hansen, T.V., Gerdes, A.M., Ejlertsen, B., Jonson, L., Osorio, A., Martinez-Bouzas, C., Benitez, J., Conway, E.E., Blazer, K.R., Weitzel, J.N., Manoukian, S., Peissel, B., Zaffaroni, D., Scuvera, G., Barile, M., Ficarazzi, F., Mariette, F., Fortuzzi, S., Viel, A., Giannini, G., Papi, L., Martayan, A., Tibiletti, M.G., Radice, P., Vratimos, A., Fostira, F., Garber, J.E., Donaldson, A., Brewer, C., Foo, C., Evans, D.G., Frost, D., Eccles, D., Brady, A., Cook, J., Tischkowitz, M., Adlard, J., Barwell, J., Izatt, L., Side, L.E., Kennedy, M.J., Rogers, M.T., Porteous, M.E., Morrison, P.J., Platte, R., Davidson, R., Hodgson, S.V., Ellis, S., Cole, T., Godwin, A.K., Claes, K., Maerken, T. Van, Meindl, A., Gehrig, A., Sutter, C., Engel, C., Hoogerbrugge, N., et al., Peterlongo, P., Chang-Claude, J., Moysich, K.B., Rudolph, A., Schmutzler, R.K., Simard, J., Soucy, P., Eeles, R.A., Easton, D.F., Hamann, U., Wilkening, S., Chen, B., Rookus, M.A., Schmidt, M.K., Baan, F.H. van der, Spurdle, A.B., Walker, L.C., Lose, F., Maia, A.T., Montagna, M., Matricardi, L., Lubinski, J., Jakubowska, A., Garcia, E.B., Olopade, O.I., Nussbaum, R.L., Nathanson, K.L., Domchek, S.M., Rebbeck, T.R., Arun, B.K., Karlan, B.Y., Orsulic, S., Lester, J., Chung, W.K., Miron, A., Southey, M.C., Goldgar, D.E., Buys, S.S., Janavicius, R., Dorfling, C.M., Rensburg, E.J. van, Ding, Y.C., Neuhausen, S.L., Hansen, T.V., Gerdes, A.M., Ejlertsen, B., Jonson, L., Osorio, A., Martinez-Bouzas, C., Benitez, J., Conway, E.E., Blazer, K.R., Weitzel, J.N., Manoukian, S., Peissel, B., Zaffaroni, D., Scuvera, G., Barile, M., Ficarazzi, F., Mariette, F., Fortuzzi, S., Viel, A., Giannini, G., Papi, L., Martayan, A., Tibiletti, M.G., Radice, P., Vratimos, A., Fostira, F., Garber, J.E., Donaldson, A., Brewer, C., Foo, C., Evans, D.G., Frost, D., Eccles, D., Brady, A., Cook, J., Tischkowitz, M., Adlard, J., Barwell, J., Izatt, L., Side, L.E., Kennedy, M.J., Rogers, M.T., Porteous, M.E., Morrison, P.J., Platte, R., Davidson, R., Hodgson, S.V., Ellis, S., Cole, T., Godwin, A.K., Claes, K., Maerken, T. Van, Meindl, A., Gehrig, A., Sutter, C., Engel, C., Hoogerbrugge, N., and et al.
Abstract: Contains fulltext : 154702.pdf (publisher's version ) (Closed access), BACKGROUND: BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same mutation suggests the existence of genetic and nongenetic modifying factors. In this study, we evaluated the putative role of variants in many candidate modifier genes. METHODS: Genotyping data from 15,252 BRCA1 and 8,211 BRCA2 mutation carriers, for known variants (n = 3,248) located within or around 445 candidate genes, were available through the iCOGS custom-designed array. Breast and ovarian cancer association analysis was performed within a retrospective cohort approach. RESULTS: The observed P values of association ranged between 0.005 and 1.000. None of the variants was significantly associated with breast or ovarian cancer risk in either BRCA1 or BRCA2 mutation carriers, after multiple testing adjustments. CONCLUSION: There is little evidence that any of the evaluated candidate variants act as modifiers of breast and/or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers. IMPACT: Genome-wide association studies have been more successful at identifying genetic modifiers of BRCA1/2 penetrance than candidate gene studies.
Published: 2015

50. Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author: Couch, F.J., Gaudet, M.M., Antoniou, A.C., Ramus, S.J., Kuchenbaecker, K.B., Soucy, P., Beesley, J., Chen, X.Q., Wang, X.S., Kirchhoff, T., McGuffog, L., Barrowdale, D., Lee, A., Healey, S., Sinilnikova, O.M., Andrulis, I.L., Ozcelik, H., Mulligan, A.M., Thomassen, M., Gerdes, A.M., Jensen, U.B., Skytte, A.B., Kruse, T.A., Caligo, M.A., Wachenfeldt, A. von, Barbany-Bustinza, G., Loman, N., Soller, M., Ehrencrona, H., Karlsson, P., Nathanson, K.L., Rebbeck, T.R., Domchek, S.M., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Zlowocka, E., Huzarski, T., Byrski, T., Gronwald, J., Cybulski, C., Gorski, B., Osorio, A., Duran, M., Tejada, M.I., Benitez, J., Hamann, U., Hogervorst, F.B.L., Os, T.A. van, Leeuwen, F.E. van, Meijers-Heijboer, H.E.J., Wijnen, J., Blok, M.J., Kets, M., Hooning, M.J., Oldenburg, R.A., Ausems, M.G.E.M., Peock, S., Frost, D., Ellis, S.D., Platte, R., Fineberg, E., Evans, D.G., Jacobs, C., Eeles, R.A., Adlard, J., Davidson, R., Eccles, D.M., Cole, T., Cook, J., Paterson, J., Brewer, C., Douglas, F., Hodgson, S.V., Morrison, P.J., Walker, L., Porteous, M.E., Kennedy, M.J., Side, L.E., Bove, B., Godwin, A.K., Stoppa-Lyonnet, D., Fassy-Colcombet, M., Castera, L., Cornelis, F., Mazoyer, S., Leone, M., Boutry-Kryza, N., Bressac-de Paillerets, B., Caron, O., Pujol, P., Coupier, I., Delnatte, C., Akloul, L., Lynch, H.T., Snyder, C.L., Buys, S.S., Daly, M.B., Terry, M., Chung, W.K., John, E.M., Miron, A., Southey, M.C., Hopper, J.L., Goldgar, D.E., Singer, C.F., Rappaport, C., Tea, M.K.M., Fink-Retter, A., Hansen, T.V.O., Nielsen, F.C., Arason, A., Vijai, J., Shah, S., Sarrel, K., Robson, M.E., Piedmonte, M., Phillips, K., Basil, J., Rubinstein, W.S., Boggess, J., Wakeley, K., Ewart-Toland, A., Montagna, M., Agata, S., Imyanitov, E.N., Isaacs, C., Janavicius, R., Lazaro, C., Blanco, I., Feliubadalo, L., Brunet, J., Gayther, S.A., Pharoah, P.P.D., Odunsi, K.O., Karlan, B.Y., Walsh, C.S., Olah, E., Teo, S.H., Ganz, P.A., Beattie, M.S., Rensburg, E.J. van, Dorfling, C.M., Diez, O., Kwong, A., Schmutzler, R.K., Wappenschmidt, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Heidemann, S., Niederacher, D., Preisler-Adams, S., Gadzicki, D., Varon-Mateeva, R., Deissler, H., Gehrig, A., Sutter, C., Kast, K., Fiebig, B., Heinritz, W., Caldes, T., Hoya, M. de la, Muranen, T.A., Nevanlinna, H., Tischkowitz, M., Spurdle, A.B., Neuhausen, S.L., Ding, Y.C., Lindor, N.M., Fredericksen, Z., Pankratz, V.S., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Barile, M., Bernard, L., Viel, A., Giannini, G., Varesco, L., Radice, P., Greene, M.H., Mai, P.L., Easton, D.F., Chenevix-Trench, G., Offit, K., Simard, J., OCGN, SWE-BRCA, HEBON, EMBRACE, GEMO Study Collaborators, kConFab Investigators, Consortium Investigators Modifiers, European Commission, National Institutes of Health (US), Breast Cancer Research Foundation, Cancer Research UK, Columbia University, Fundación Mutua Madrileña, Asociación Española Contra el Cáncer, Ministerio de Ciencia e Innovación (España), National Institute for Health Research (UK), University of Helsinki, Generalitat de Catalunya, Instituto de Salud Carlos III, Ministero dell'Istruzione, dell'Università e della Ricerca, Ministero della Salute, National Health and Medical Research Council (Australia), Instituto Nacional del Cáncer (España), National Cancer Institute (US), Avon Foundation for Women, VU University medical center, Human genetics, CCA - Oncogenesis, Clinical Genetics, Pediatric Surgery, Neurology, Medical Oncology, MUMC+: DA KG Lab Centraal Lab (9), Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction, Human Genetics, CCA -Cancer Center Amsterdam, and ARD - Amsterdam Reproduction and Development
Subjects: Oncology, endocrine system diseases, Epidemiology, Estrogen receptor, Breast Neoplasms - epidemiology - genetics - metabolism, DCN PAC - Perception action and control, Immunoenzyme Techniques, 0302 clinical medicine, Risk Factors, Genotype, skin and connective tissue diseases, Ovarian Neoplasms, 0303 health sciences, Ovarian Neoplasms - epidemiology - genetics - metabolism, BRCA1 Protein, Middle Aged, BRCA2 Protein, Prognosis, 3. Good health, DNA-Binding Proteins, Receptors, Estrogen, Risk factors for breast cancer, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Female, Adult, medicine.medical_specialty, Hereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1], Breast Neoplasms, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Breast cancer, SDG 3 - Good Health and Well-being, Translational research [ONCOL 3], Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Genetics and epigenetic pathways of disease Translational research [NCMLS 6], 030304 developmental biology, Aged, Chromosomes, Human, Pair 19 - genetics, Hereditary cancer and cancer-related syndromes [ONCOL 1], business.industry, Cancer, BRCA1 Protein - genetics, medicine.disease, United States, BRCA2 Protein - genetics, Immunology, Mutation, Ovarian cancer, business, Chromosomes, Human, Pair 19, Genome-Wide Association Study, Transcription Factors
Abstract: PMCID: PMC3319317.-- et al., [Background]: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). [Methods]: Genotyping data for 12,599 BRCA1 and 7,132 BRCA2 mutation carriers from 40 studies were combined. [Results]: We confirmed associations between rs8170 at 19p13.1 and breast cancer risk for BRCA1 mutation carriers [HR, 1.17; 95% confidence interval (CI), 1.07-1.27; P = 7.42 × 10(-4)] and between rs16917302 at ZNF365 (HR, 0.84; 95% CI, 0.73-0.97; P = 0.017) but not rs311499 at 20q13.3 (HR, 1.11; 95% CI, 0.94-1.31; P = 0.22) and breast cancer risk for BRCA2 mutation carriers. Analyses based on tumor histopathology showed that 19p13 variants were predominantly associated with estrogen receptor (ER)-negative breast cancer for both BRCA1 and BRCA2 mutation carriers, whereas rs16917302 at ZNF365 was mainly associated with ER-positive breast cancer for both BRCA1 and BRCA2 mutation carriers. We also found for the first time that rs67397200 at 19p13.1 was associated with an increased risk of ovarian cancer for BRCA1 (HR, 1.16; 95% CI, 1.05-1.29; P = 3.8 × 10(-4)) and BRCA2 mutation carriers (HR, 1.30; 95% CI, 1.10-1.52; P = 1.8 × 10(-3)). [Conclusions]: 19p13.1 and ZNF365 are susceptibility loci for ovarian cancer and ER subtypes of breast cancer among BRCA1 and BRCA2 mutation carriers. [Impact]: These findings can lead to an improved understanding of tumor development and may prove useful for breast and ovarian cancer risk prediction for BRCA1 and BRCA2 mutation carriers., This research was supported by NIH grant CA128978, an NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), a U.S. Department of Defence Ovarian Cancer Idea award (W81XWH-10-1-0341), and grants from the Breast Cancer Research Foundation and the Komen Foundation for the Cure. This work was also supported by Cancer Research UK (CR-UK) grants C12292/A11174 and C1287/A10118. The research leading to these results has received funding from the European Community's Seventh Framework Programme under grant agreement no. 223175 (HEALTH-F2-2009-223175). Support was also provided by the Canadian Institutes of Health Research for the “CIHR Team in Familial Risks of Breast Cancer” program and by the Canadian Breast Cancer Research Alliance-grant #019511., A.C. Antoniou is a CR-UK Senior Cancer Research Fellow. D.F. Easton is CR-UK Principal Research Fellow. G. Chenevix-Trench6 is a NHMRC Senior Principal Research Fellow. BFBOCC was supported by the Research Council of Lithuania grant LIG-19/2010 to R. Janavicius. BMBSA was supported by grants from the Cancer Association of South Africa (CANSA) to E.J. van Rensburg. BCFR was supported by the National Cancer Institute, NIH under RFA-CA-06-503 and through cooperative agreements with members of the Breast Cancer Family Registry (BCFR) and Principal Investigators, including Cancer Care Ontario (U01 CA69467), Columbia University (U01 CA69398), Fox Chase Cancer Center (U01 CA69631), Huntsman Cancer Institute (U01 CA69446), Cancer Prevention Institute of California (formerly the Northern California Cancer Center; U01 CA69417), University of Melbourne (U01 CA69638), and Research Triangle Institute Informatics Support Center (RFP No. N02PC45022-46). CBCS was supported by The Neye Foundation. CNIO was partially supported by Fundación Mutua Madrileña, Asociación Española Contra el Cáncer, the Spanish Ministry of Science and Innovation (FIS PI08 1120), and the Basque Foundation for Health Innovation and Research (BIOEF): BIO07/CA/006. CONSIT TEAM was supported by grants from Ministero della Salute (Extraordinary National Cancer Program 2006 “Alleanza contro il Cancro” to L. Varesco and P. Radice, and “Progetto Tumori Femminili” to P. Radice), Ministero dell'Universita' e Ricerca (RBLAO3-BETH to P. Radice), Fondazione Italiana per la Ricerca sul Cancro (Special Project “Hereditary tumors” to P. Radice), Associazione Italiana per la Ricerca sul Cancro (4017 to P. Pujol), and by funds from Italian citizens who allocated the 5 × 1,000 share of their tax payment in support of the Fondazione IRCCS Istituto Nazionale Tumori, according to Italian laws (INT-Institutional strategic projects “5 × 1000”)., The DKFZ study was supported by funds from the DKFZ. EMBRACE was supported by CR-UK Grants C1287/A10118 and C1287/A11990. D.G. Evans and Fiona Lalloo were supported by an NIHR grant to the Biomedical Research Centre, Manchester, UK. The Investigators at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust were supported by an NIHR grant to the Biomedical Research Centre at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust. R.A. Eeles, Elizabeth Bancroft, and Lucia D'Mello were supported by CR-UK Grant C5047/A8385. GC-HBOC was supported by a grant of the German Cancer Aid (grant 109076) and by the Centre of Molecular Medicine Cologne (CMMC). The GEMO study was supported by the Ligue National Contre le Cancer; Association for International Cancer Research Grant (AICR-07-0454); and the Association “Le cancer du sein, parlons-en!” Award. The Georgetown study was supported by the Familial Cancer Registry at Georgetown University (NIH/NCI grant P30-CA051008), the Cancer Genetics Network (HHSN261200744000C), and Swing Fore the Cure. GOG was supported through funding provided by both intramural (Clinical Genetics Branch, DCEG) and extramural (Community Oncology and Prevention Trials Program—COPTRG) NCI programs. K. Phillips is the Cancer Council Victoria, Colebatch Clinical Research Fellow. HEBCS was supported by the Helsinki University Central Hospital Research Fund, Academy of Finland (132473), the Finnish Cancer Society, and the Sigrid Juselius Foundation. The HEBON study was supported by the Dutch Cancer Society grants NKI1998-1854, NKI2004-3088, NKI2007-3756, and the ZonMW grant 91109024. HUNBOCS was supported by the Hungarian Research Grant KTIA-OTKA CK-80745. ICO was supported by Asociación Española Contra el Cáncer, Spanish Health Research Fund; Carlos III Health Institute; Catalan Health Institute and Autonomous Government of Catalonia; contract grant numbers ISCIIIRETIC RD06/0020/1051, PI10/01422, PI10/31488, and 2009SGR290. IHCC was supported by a Polish Foundation of Science award to K. Jaworska, a fellow of International PhD program, Postgraduate School of Molecular Medicine, Warsaw Medical University. ILUH was supported by the Icelandic Association “Walking for Breast Cancer Research” and by the Landspitali University Hospital Research Fund., INHERIT was supported with J. Simard, Chairholder of the Canada Research Chair in Oncogenetics. IOVHBOCS was supported by Ministero dell'Istruzione, dell'Università e della Ricerca (MIUR), and “Ministero della Salute” (“Progetto Tumori Femminili and grant numbers RFPS 2006-5-341353, ACC2/R6.9”). kConFab was supported by grants from the National Breast Cancer Foundation, the National Health and Medical Research Council (NHMRC), and by the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania, and South Australia, and the Cancer Foundation of Western Australia. The kConFab Clinical Follow-Up Study was funded by the NHMRC [145684, 288704, 454508]. A.-B. Skytte is supported by a NHMRC Senior Research Fellowship. A.K. Godwin was funded by U01CA69631, 5U01CA113916, and the Eileen Stein Jacoby Fund while at FCCC. The author acknowledges support from The University of Kansas Cancer Center and the Kansas Bioscience Authority Eminent Scholar Program. A.K. Godwin is the Chancellors Distinguished Chair in Biomedical Sciences endowed Professor. The McGill study was supported by the Jewish General Hospital Weekend to End Breast Cancer. M. Thomassen holds a Fonds de la Recherche en Santé du Québec clinician-scientist award. The MSKCC study was supported by the Starr Cancer Consortium, the Breast Cancer Research Foundation, the Norman and Carol Stone Cancer Research Initiative, the Kate and Robert Niehaus Clinical Cancer Research Initiative, the Lymphoma Foundation, and the Sabin Family Research Initiative. The NCI study was supported by the Intramural Research Program of the U.S. National Cancer Institute and by support services contracts NO2-CP-11019-50 and N02-CP-65504 with Westat, Inc. NNPIO was supported by the Russian Federation for Basic Research (grants 10-04-92601, 10-04-92110, 11-04-00227) and the Federal Agency for Science and Innovations (contract 16.512.11.2237)., OCGN was supported by Cancer Care Ontario and the U.S. National Cancer Institute, NIH under RFA # CA-06-503 and through cooperative agreements with members of the Breast Cancer Family Registry (BCFR) and Principal Investigators. OSU-CCG was supported by the Ohio State University Comprehensive Cancer Center. PBCS was supported by an Instituto Toscano Tumori grant to M.A. Caligo. SEABASS was supported by CARIF and University Malaya. The UCSF study was supported by the Helen Diller Family Comprehensive Cancer Center at UCSF, the Avon Foundation, and the Center for Translational and Policy Research in Personalized Medicine (TRANSPERS), NIH/NCI P01 CA130818-02A1. UKFOCR was supported by a project grant from CRUK to P.P.D. Pharoah. The UPENN study was supported Komen Foundation for the Cure to S.M. Domchek, the Breast Cancer Research Foundation to K.L. Nathanson, and NIH grants R01-CA083855 and R01-CA102776 to T.R. Rebbeck. WCRI was supported by the American Cancer Society Clinical Research Professorship #SIOP-06-258-06-COUN.
Published: 2012
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