Author: "Perez, J.I.A." - Searchworks@Jio Institute Digital Library Search Results

Your search keyword '"Perez, J.I.A."' showing total 31 results

Start Over Author "Perez, J.I.A."

31 results on '"Perez, J.I.A."'

1. Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women

Author: Dorling, L., Carvalho, S., Allen, J., Gonzalez-Neira, A., Luccarini, C., Wahlstrom, C., Pooley, K.A., Parsons, M.T., Fortuno, C., Wang, Q., Bolla, M.K., Dennis, J., Keeman, R., Alonso, M.R., Alvarez, N., Herraez, B., Fernandez, V., Nunez-Torres, R., Osorio, A., Valcich, J., Li, M., Torngren, T., Harrington, P.A., Baynes, C., Conroy, D.M., Decker, B., Fachal, L., Mavaddat, N., Ahearn, T., Aittomaki, K., Antonenkova, N.N., Arnold, N., Arveux, P., Ausems, M.G.E.M., Auvinen, P., Becher, H., Beckmann, M.W., Behrens, S., Bermisheva, M., Bialkowska, K., Blomqvist, C., Bogdanova, N.V., Bogdanova-Markov, N., Bojesen, S.E., Bonanni, B., Borresen-Dale, A.L., Brauch, H., Bremer, M., Briceno, I., Bruning, T., Burwinkel, B., Cameron, D.A., Camp, N.J., Campbell, A., Carracedo, A., Castelao, J.E., Cessna, M.H., Chanock, S.J., Christiansen, H., Collee, J.M., Cordina-Duverger, E., Cornelissen, S., Czene, K., Dork, T., Ekici, A.B., Engel, C., Eriksson, M., Fasching, P.A., Figueroa, J., Flyger, H., Forsti, A., Gabrielson, M., Gago-Dominguez, M., Georgoulias, V., Gil, F., Giles, G.G., Glendon, G., Garcia, E.B.G., Alnaes, G.I.G., Guenel, P., Hadjisavvas, A., Haeberle, L., Hahnen, E., Hall, P., Hamann, U., Harkness, E.F., Hartikainen, J.M., Hartman, M., He, W., Heemskerk-Gerritsen, B.A.M., Hillemanns, P., Hogervorst, F.B.L., Hollestelle, A., Ho, W.K., Hooning, M.J., Howell, A., Humphreys, K., Idris, F., Jakubowska, A., Jung, A., Kapoor, P.M., Kerin, M.J., Khusnutdinova, E., Kim, S.W., Ko, Y.D., Kosma, V.M., Kristensen, V.N., Kyriacou, K., Lakeman, I.M.M., Lee, J.W., Lee, M.H., Li, J.M., Lindblom, A., W.Y. lo, Loizidou, M.A., Lophatananon, A., Lubinski, J., MacInnis, R.J., Madsen, M.J., Mannermaa, A., Manoochehri, M., Manoukian, S., Margolin, S., Martinez, M.E., Maurer, T., Mavroudis, D., McLean, C., Meindl, A., Mensenkamp, A.R., Michailidou, K., Miller, N., Taib, N.A.M., Muir, K., Mulligan, A.M., Nevanlinna, H., Newman, W.G., Nordestgaard, B.G., Ng, P.S., Oosterwijk, J.C., Park, S.K., Park-Simon, T.W., Perez, J.I.A., Peterlongo, P., Porteous, D.J., Prajzendanc, K., Prokofyeva, D., Radice, P., Rashid, M.U., Rhenius, V., Rookus, M.A., Rudiger, T., Saloustros, E., Sawyer, E.J., Schmutzler, R.K., Schneeweiss, A., Schurmann, P., Shah, M., Sohn, C., Southey, M.C., Surowy, H., Suvanto, M., Thanasitthichai, S., Tomlinson, I., Torres, D., Truong, T., Tzardi, M., Valova, Y., Asperen, C.J. van, Dam, R.M. van, Ouweland, A.M.W. van den, Kolk, L.E. van der, Veen, E.M. van, Wendt, C., Williams, J.A., Yang, X.H.R., Yoon, S.Y., Zamora, M.P., Evans, D.G., Hoya, M. de la, Simard, J., Antoniou, A.C., Borg, A., Andrulis, I.L., Chang-Claude, J., Garcia-Closas, M., Chenevix-Trench, G., Milne, R.L., Pharoah, P.D.P., Schmidt, M.K., Spurdle, A.B., Vreeswijk, M.P.G., Benitez, J., Dunning, A.M., Kvist, A., Teo, S.H., Devilee, P., Easton, D.F., Breast Canc Assoc Consortium, Erasmus MC other, Medical Oncology, Clinical Genetics, Keeman, Renske [0000-0002-5452-9933], Decker, Brennan [0000-0003-4516-7421], Eriksson, Mikael [0000-0001-8135-4270], Martinez, Maria Elena [0000-0002-6728-1834], Surowy, Harald [0000-0002-3595-9188], Pharoah, Paul DP [0000-0001-8494-732X], Apollo - University of Cambridge Repository, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), and Klinische Genetica
Subjects: Adult, Risk, Oncology, medicine.medical_specialty, Adolescent, PALB2, Genetic counseling, Genes, BRCA2, Mutation, Missense, Genes, BRCA1, Estrogen receptor, Breast Neoplasms, 030204 cardiovascular system & hematology, OVARIAN-CANCER, Article, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, SDG 3 - Good Health and Well-being, Internal medicine, Odds Ratio, medicine, Humans, Genetic Predisposition to Disease, 030212 general & internal medicine, skin and connective tissue diseases, CHEK2, Aged, Genetic testing, Genetic association, Aged, 80 and over, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], medicine.diagnostic_test, MUTATIONS, business.industry, Age Factors, Genetic Variation, Sequence Analysis, DNA, General Medicine, Odds ratio, Middle Aged, BRCA1, medicine.disease, 3. Good health, Logistic Models, Female, business
Abstract: BACKGROUNDGenetic testing for breast cancer susceptibility is widely used, but for many genes,evidence of an association with breast cancer is weak, underlying risk estimatesare imprecise, and reliable subtype-specific risk estimates are lacking.METHODSWe used a panel of 34 putative susceptibility genes to perform sequencing onsamples from 60,466 women with breast cancer and 53,461 controls. In separateanalyses for protein-truncating variants and rare missense variants in these genes,we estimated odds ratios for breast cancer overall and tumor subtypes. We evaluatedmissense-variant associations according to domain and classification of pathogenicity.RESULTSProtein-truncating variants in 5 genes (ATM, BRCA1, BRCA2, CHEK2, and PALB2)were associated with a risk of breast cancer overall with a P value of less than0.0001. Protein-truncating variants in 4 other genes (BARD1, RAD51C, RAD51D,and TP53) were associated with a risk of breast cancer overall with a P value ofless than 0.05 and a Bayesian false-discovery probability of less than 0.05. Forprotein-truncating variants in 19 of the remaining 25 genes, the upper limit ofthe 95% confidence interval of the odds ratio for breast cancer overall was lessthan 2.0. For protein-truncating variants in ATM and CHEK2, odds ratios werehigher for estrogen receptor (ER)–positive disease than for ER-negative disease;for protein-truncating variants in BARD1, BRCA1, BRCA2, PALB2, RAD51C, andRAD51D, odds ratios were higher for ER-negative disease than for ER-positivedisease. Rare missense variants (in aggregate) in ATM, CHEK2, and TP53 wereassociated with a risk of breast cancer overall with a P value of less than 0.001.For BRCA1, BRCA2, and TP53, missense variants (in aggregate) that would be classified as pathogenic according to standard criteria were associated with a riskof breast cancer overall, with the risk being similar to that of protein-truncatingvariants.CONCLUSIONSThe results of this study define the genes that are most clinically useful for inclusion on panels for the prediction of breast cancer risk, as well as provide estimatesof the risks associated with protein-truncating variants, to guide genetic counseling. (Funded by European Union Horizon 2020 programs and others.)
Published: 2021

2. Breast cancer risk genes - Association analysis in more than 113,000 women.

Author: Cornelissen S., Michailidou K., Miller N., Taib N.A.M., Muir K., Mulligan A.M., Nevanlinna H., Newman W.G., Nordestgaard B.G., Ng P.-S., Oosterwijk J.C., Park S.K., Park-Simon T.-W., Perez J.I.A., Peterlongo P., Porteous D.J., Prajzendanc K., Prokofyeva D., Radice P., Rashid M.U., Rhenius V., Rookus M.A., Rudiger T., Saloustros E., Sawyer E.J., Schmutzler R.K., Schneeweiss A., Schurmann P., Shah M., Sohn C., Southey M.C., Surowy H., Suvanto M., Thanasitthichai S., Tomlinson I., Torres D., Truong T., Tzardi M., Valova Y., van Asperen C.J., van Dam R.M., van den Ouweland A.M.W., van der Kolk L.E., van Veen E.M., Wendt C., Williams J.A., Yang X.R., Yoon S.-Y., Zamora M.P., Evans D.G., de la Hoya M., Simard J., Antoniou A.C., Borg A., Andrulis I.L., Chang-Claude J., Garcia-Closas M., Chenevix-Trench G., Milne R.L., Pharoah P.D.P., Schmidt M.K., Spurdle A.B., Vreeswijk M.P.G., Benitez J., Dunning A.M., Kvist A., Teo S.H., Devilee P., Easton D.F., Dorling L., Carvalho S., Allen J., Gonzalez-Neira A., Luccarini C., Wahlstrom C., Pooley K.A., Parsons M.T., Fortuno C., Wang Q., Bolla M.K., Dennis J., Keeman R., Alonso M.R., Alvarez N., Herraez B., Fernandez V., Nunez-Torres R., Osorio A., Valcich J., Li M., Torngren T., Harrington P.A., Baynes C., Conroy D.M., Decker B., Fachal L., Mavaddat N., Ahearn T., Aittomaki K., Antonenkova N.N., Arnold N., Arveux P., Ausems M.G.E.M., Auvinen P., Becher H., Beckmann M.W., Behrens S., Bermisheva M., Bialkowska K., Blomqvist C., Bogdanova N.V., Bogdanova-Markov N., Bojesen S.E., Bonanni B., Borresen-Dale A.-L., Brauch H., Bremer M., Briceno I., Bruning T., Burwinkel B., Cameron D.A., Camp N.J., Campbell A., Carracedo A., Castelao J.E., Cessna M.H., Chanock S.J., Christiansen H., Collee J.M., Cordina-Duverger E., Czene K., Dork T., Ekici A.B., Engel C., Eriksson M., Fasching P.A., Figueroa J., Flyger H., Forsti A., Gabrielson M., Gago-Dominguez M., Georgoulias V., Gil F., Giles G.G., Glendon G., Gomez Garcia E.B., Grenaker Alnaes G.I., Guenel P., Hadjisavvas A., Haeberle L., Hahnen E., Hall P., Hamann U., Harkness E.F., Hartikainen J.M., Hartman M., He W., Heemskerk-Gerritsen B.A.M., Hillemanns P., Hogervorst F.B.L., Hollestelle A., Ho W.K., Hooning M.J., Howell A., Humphreys K., Idris F., Jakubowska A., Jung A., Kapoor P.M., Kerin M.J., Khusnutdinova E., Kim S.-W., Ko Y.-D., Kosma V.-M., Kristensen V.N., Kyriacou K., Lakeman I.M.M., Lee J.W., Lee M.H., Li J., Lindblom A., Lo W.-Y., Loizidou M.A., Lophatananon A., Lubinski J., MacInnis R.J., Madsen M.J., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Martinez M.E., Maurer T., Mavroudis D., McLean C., Meindl A., Mensenkamp A.R., Cornelissen S., Michailidou K., Miller N., Taib N.A.M., Muir K., Mulligan A.M., Nevanlinna H., Newman W.G., Nordestgaard B.G., Ng P.-S., Oosterwijk J.C., Park S.K., Park-Simon T.-W., Perez J.I.A., Peterlongo P., Porteous D.J., Prajzendanc K., Prokofyeva D., Radice P., Rashid M.U., Rhenius V., Rookus M.A., Rudiger T., Saloustros E., Sawyer E.J., Schmutzler R.K., Schneeweiss A., Schurmann P., Shah M., Sohn C., Southey M.C., Surowy H., Suvanto M., Thanasitthichai S., Tomlinson I., Torres D., Truong T., Tzardi M., Valova Y., van Asperen C.J., van Dam R.M., van den Ouweland A.M.W., van der Kolk L.E., van Veen E.M., Wendt C., Williams J.A., Yang X.R., Yoon S.-Y., Zamora M.P., Evans D.G., de la Hoya M., Simard J., Antoniou A.C., Borg A., Andrulis I.L., Chang-Claude J., Garcia-Closas M., Chenevix-Trench G., Milne R.L., Pharoah P.D.P., Schmidt M.K., Spurdle A.B., Vreeswijk M.P.G., Benitez J., Dunning A.M., Kvist A., Teo S.H., Devilee P., Easton D.F., Dorling L., Carvalho S., Allen J., Gonzalez-Neira A., Luccarini C., Wahlstrom C., Pooley K.A., Parsons M.T., Fortuno C., Wang Q., Bolla M.K., Dennis J., Keeman R., Alonso M.R., Alvarez N., Herraez B., Fernandez V., Nunez-Torres R., Osorio A., Valcich J., Li M., Torngren T., Harrington P.A., Baynes C., Conroy D.M., Decker B., Fachal L., Mavaddat N., Ahearn T., Aittomaki K., Antonenkova N.N., Arnold N., Arveux P., Ausems M.G.E.M., Auvinen P., Becher H., Beckmann M.W., Behrens S., Bermisheva M., Bialkowska K., Blomqvist C., Bogdanova N.V., Bogdanova-Markov N., Bojesen S.E., Bonanni B., Borresen-Dale A.-L., Brauch H., Bremer M., Briceno I., Bruning T., Burwinkel B., Cameron D.A., Camp N.J., Campbell A., Carracedo A., Castelao J.E., Cessna M.H., Chanock S.J., Christiansen H., Collee J.M., Cordina-Duverger E., Czene K., Dork T., Ekici A.B., Engel C., Eriksson M., Fasching P.A., Figueroa J., Flyger H., Forsti A., Gabrielson M., Gago-Dominguez M., Georgoulias V., Gil F., Giles G.G., Glendon G., Gomez Garcia E.B., Grenaker Alnaes G.I., Guenel P., Hadjisavvas A., Haeberle L., Hahnen E., Hall P., Hamann U., Harkness E.F., Hartikainen J.M., Hartman M., He W., Heemskerk-Gerritsen B.A.M., Hillemanns P., Hogervorst F.B.L., Hollestelle A., Ho W.K., Hooning M.J., Howell A., Humphreys K., Idris F., Jakubowska A., Jung A., Kapoor P.M., Kerin M.J., Khusnutdinova E., Kim S.-W., Ko Y.-D., Kosma V.-M., Kristensen V.N., Kyriacou K., Lakeman I.M.M., Lee J.W., Lee M.H., Li J., Lindblom A., Lo W.-Y., Loizidou M.A., Lophatananon A., Lubinski J., MacInnis R.J., Madsen M.J., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Martinez M.E., Maurer T., Mavroudis D., McLean C., Meindl A., and Mensenkamp A.R.
Abstract: BACKGROUND Genetic testing for breast cancer susceptibility is widely used, but for many genes, evidence of an association with breast cancer is weak, underlying risk estimates are imprecise, and reliable subtype-specific risk estimates are lacking. METHODS We used a panel of 34 putative susceptibility genes to perform sequencing on samples from 60,466 women with breast cancer and 53,461 controls. In separate analyses for protein-truncating variants and rare missense variants in these genes, we estimated odds ratios for breast cancer overall and tumor subtypes. We evaluated missense-variant associations according to domain and classification of pathogenicity. RESULTS Protein-truncating variants in 5 genes (ATM, BRCA1, BRCA2, CHEK2, and PALB2) were associated with a risk of breast cancer overall with a P value of less than 0.0001. Protein-truncating variants in 4 other genes (BARD1, RAD51C, RAD51D, and TP53) were associated with a risk of breast cancer overall with a P value of less than 0.05 and a Bayesian false-discovery probability of less than 0.05. For protein-truncating variants in 19 of the remaining 25 genes, the upper limit of the 95% confidence interval of the odds ratio for breast cancer overall was less than 2.0. For protein-truncating variants in ATM and CHEK2, odds ratios were higher for estrogen receptor (ER)-positive disease than for ER-negative disease; for protein-truncating variants in BARD1, BRCA1, BRCA2, PALB2, RAD51C, and RAD51D, odds ratios were higher for ER-negative disease than for ER-positive disease. Rare missense variants (in aggregate) in ATM, CHEK2, and TP53 were associated with a risk of breast cancer overall with a P value of less than 0.001. For BRCA1, BRCA2, and TP53, missense variants (in aggregate) that would be classified as pathogenic according to standard criteria were associated with a risk of breast cancer overall, with the risk being similar to that of protein-truncating variants. CONCLUSIONS The results of this study define
Published: 2021

3. Genome-wide association study of germline variants and breast cancer-specific mortality

Author: Escala-Garcia, M., Guo, Q., Dork, T., Canisius, S., Keeman, R., Dennis, J., Beesley, J., Lecarpentier, J., Bolla, M.K., Wang, Q., Abraham, J., Andrulis, I.L., Anton-Culver, H., Arndt, V., Auer, P.L., Beckmann, M.W., Behrens, S., Benitez, J., Bermisheva, M., Bernstein, L., Blomqvist, C., Boeckx, B., Bojesen, S.E., Bonanni, B., Borresen-Dale, A.L., Brauch, H., Brenner, H., Brentnall, A., Brinton, L., Broberg, P., Brock, I.W., Brucker, S.Y., Burwinkel, B., Caldas, C., Caldes, T., Campa, D., Canzian, F., Carracedo, A., Carter, B.D., Castelao, J.E., Chang-Claude, J., Chanock, S.J., Chenevix-Trench, G., Cheng, T.Y.D., Chin, S.F., Clarke, C.L., Cordina-Duverger, E., Couch, F.J., Cox, D.G., Cox, A., Cross, S.S., Czene, K., Daly, M.B., Devilee, P., Dunn, J.A., Dunning, A.M., Durcan, L., Dwek, M., Earl, H.M., Ekici, A.B., Eliassen, A.H., Ellberg, C., Engel, C., Eriksson, M., Evans, D.G., Figueroa, J., Flesch-Janys, D., Flyger, H., Gabrielson, M., Gago-Dominguez, M., Galle, E., Gapstur, S.M., Garcia-Closas, M., Garcia-Saenz, J.A., Gaudet, M.M., George, A., Georgoulias, V., Giles, G.G., Glendon, G., Goldgar, D.E., Gonzalez-Neira, A., Alnaes, G.I.G., Grip, M., Guenel, P., Haeberle, L., Hahnen, E., Haiman, C.A., Hakansson, N., Hall, P., Hamann, U., Hankinson, S., Harkness, E.F., Harrington, P.A., Hart, S.N., Hartikainen, J.M., Hein, A., Hillemanns, P., Hiller, L., Holleczek, B., Hollestelle, A., Hooning, M.J., Hoover, R.N., Hopper, J.L., Howell, A., Huang, G.M.Q., Humphreys, K., Hunter, D.J., Janni, W., John, E.M., Jones, M.E., Jukkola-Vuorinen, A., Jung, A., Kaaks, R., Kabisch, M., Kaczmarek, K., Kerin, M.J., Khan, S., Khusnutdinova, E., Kiiski, J.I., Kitahara, C.M., Knight, J.A., Ko, Y.D., Koppert, L.B., Kosma, V.M., Kraft, P., Kristensen, V.N., Kruger, U., Kuhl, T., Lambrechts, D., Marchand, L. le, Lee, E., Lejbkowicz, F., Li, L., Lindblom, A., Lindstrom, S., Linet, M., Lissowska, J., W.Y. lo, Loibl, S., Lubinski, J., Lux, M.P., MacInnis, R.J., Maierthaler, M., Maishman, T., Makalic, E., Mannermaa, A., Manoochehri, M., Manoukian, S., Margolin, S., Martinez, M.E., Mavroudis, D., McLean, C., Meindl, A., Middha, P., Miller, N., Milne, R.L., Moreno, F., Mulligan, A.M., Mulot, C., Nassir, R., Neuhausen, S.L., Newman, W.T., Nielsen, S.F., Nordestgaard, B.G., Norman, A., Olsson, H., Orr, N., Pankratz, V.S., Park-Simon, T.W., Perez, J.I.A., Perez-Barrios, C., Peterlongo, P., Petridis, C., Pinchev, M., Prajzendanc, K., Prentice, R., Presneau, N., Prokofieva, D., Pylkas, K., Rack, B., Radice, P., Ramachandran, D., Rennert, G., Rennert, H.S., Rhenius, V., Romero, A., Roylance, R., Saloustros, E., Sawyer, E.J., Schmidt, D.F., Schmutzler, R.K., Schneeweiss, A., Schoemaker, M.J., Schumacher, F., Schwentner, L., Scott, R.J., Scott, C., Seynaeve, C., Shah, M., Simard, J., Smeets, A., Sohn, C., Southey, M.C., Swerdlow, A.J., Talhouk, A., Tamimi, R.M., Tapper, W.J., Teixeira, M.R., Tengstrom, M., Terry, M.B., Thone, K., Tollenaar, R.A.E.M., Tomlinson, I., Torres, D., Truong, T., Turman, C., Turnbull, C., Ulmer, H.U., Untch, M., Vachon, C., Asperen, C.J. van, Ouweland, A.M.W. van den, Veen, E.M. van, Wendt, C., Whittemore, A.S., Willett, W., Winqvist, R., Wolk, A., Yang, X.R., Zhang, Y., Easton, D.F., Fasching, P.A., Nevanlinna, H., Eccles, D.M., Pharoah, P.D.P., Schmidt, M.K., and NBCS Collaborators
Abstract: BACKGROUND: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry.METHODS: Meta-analyses included summary estimates based on Cox models of twelve datasets using similar to 10.4 million variants for 96,661 women with breast cancer and 7697 events (breast cancer-specific deaths). Oestrogen receptor (ER)-specific analyses were based on 64,171 ER-positive (4116) and 16,172 ER-negative (2125) patients. We evaluated the probability of a signal to be a true positive using the Bayesian false discovery probability (BFDP).RESULTS: We did not find any variant associated with breast cancer-specific mortality at P
Published: 2019

4. Genome-wide association study of germline variants and breast cancer-specific mortality.

Author: Garcia-Closas M., Moreno F., Mulligan A.M., Mulot C., Nassir R., Neuhausen S.L., Newman W.T., Nielsen S.F., Nordestgaard B.G., Norman A., Olsson H., Orr N., Pankratz V.S., Park-Simon T.-W., Perez J.I.A., Perez-Barrios C., Peterlongo P., Petridis C., Pinchev M., Prajzendanc K., Prentice R., Presneau N., Prokofieva D., Pylkas K., Rack B., Radice P., Ramachandran D., Rennert G., Rennert H.S., Rhenius V., Romero A., Roylance R., Saloustros E., Sawyer E.J., Schmidt D.F., Schmutzler R.K., Schneeweiss A., Schoemaker M.J., Schumacher F., Schwentner L., Scott R.J., Scott C., Seynaeve C., Shah M., Simard J., Smeets A., Sohn C., Southey M.C., Swerdlow A.J., Talhouk A., Tamimi R.M., Tapper W.J., Teixeira M.R., Tengstrom M., Terry M.B., Thone K., Tollenaar R.A.E.M., Tomlinson I., Torres D., Truong T., Turman C., Turnbull C., Ulmer H.-U., Untch M., Vachon C., van Asperen C.J., van den Ouweland A.M.W., van Veen E.M., Wendt C., Whittemore A.S., Willett W., Winqvist R., Wolk A., Yang X.R., Zhang Y., Easton D.F., Fasching P.A., Nevanlinna H., Eccles D.M., Pharoah P.D.P., Schmidt M.K., Escala-Garcia M., Guo Q., Dork T., Canisius S., Keeman R., Dennis J., Beesley J., Lecarpentier J., Bolla M.K., Wang Q., Abraham J., Andrulis I.L., Anton-Culver H., Arndt V., Auer P.L., Beckmann M.W., Behrens S., Benitez J., Bermisheva M., Bernstein L., Blomqvist C., Boeckx B., Bojesen S.E., Bonanni B., Borresen-Dale A.-L., Brauch H., Brenner H., Brentnall A., Brinton L., Broberg P., Brock I.W., Brucker S.Y., Burwinkel B., Caldas C., Caldes T., Campa D., Canzian F., Carracedo A., Carter B.D., Castelao J.E., Chang-Claude J., Chanock S.J., Chenevix-Trench G., Cheng T.-Y.D., Chin S.-F., Clarke C.L., Cordina-Duverger E., Couch F.J., Cox D.G., Cox A., Cross S.S., Czene K., Daly M.B., Devilee P., Dunn J.A., Dunning A.M., Durcan L., Dwek M., Earl H.M., Ekici A.B., Eliassen A.H., Ellberg C., Engel C., Eriksson M., Evans D.G., Figueroa J., Flesch-Janys D., Flyger H., Gabrielson M., Gago-Dominguez M., Galle E., Gapstur S.M., Garcia-Saenz J.A., Gaudet M.M., George A., Georgoulias V., Giles G.G., Glendon G., Goldgar D.E., Gonzalez-Neira A., Alnaes G.I.G., Grip M., Guenel P., Haeberle L., Hahnen E., Haiman C.A., Hakansson N., Hall P., Hamann U., Hankinson S., Harkness E.F., Harrington P.A., Hart S.N., Hartikainen J.M., Hein A., Hillemanns P., Hiller L., Holleczek B., Hollestelle A., Hooning M.J., Hoover R.N., Hopper J.L., Howell A., Huang G., Humphreys K., Hunter D.J., Janni W., John E.M., Jones M.E., Jukkola-Vuorinen A., Jung A., Kaaks R., Kabisch M., Kaczmarek K., Kerin M.J., Khan S., Khusnutdinova E., Kiiski J.I., Kitahara C.M., Knight J.A., Ko Y.-D., Koppert L.B., Kosma V.-M., Kraft P., Kristensen V.N., Kruger U., Kuhl T., Lambrechts D., Le Marchand L., Lee E., Lejbkowicz F., Li L., Lindblom A., Lindstrom S., Linet M., Lissowska J., Lo W.-Y., Loibl S., Lubinski J., Lux M.P., MacInnis R.J., Maierthaler M., Maishman T., Makalic E., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Martinez M.E., Mavroudis D., McLean C., Meindl A., Middha P., Miller N., Milne R.L., Garcia-Closas M., Moreno F., Mulligan A.M., Mulot C., Nassir R., Neuhausen S.L., Newman W.T., Nielsen S.F., Nordestgaard B.G., Norman A., Olsson H., Orr N., Pankratz V.S., Park-Simon T.-W., Perez J.I.A., Perez-Barrios C., Peterlongo P., Petridis C., Pinchev M., Prajzendanc K., Prentice R., Presneau N., Prokofieva D., Pylkas K., Rack B., Radice P., Ramachandran D., Rennert G., Rennert H.S., Rhenius V., Romero A., Roylance R., Saloustros E., Sawyer E.J., Schmidt D.F., Schmutzler R.K., Schneeweiss A., Schoemaker M.J., Schumacher F., Schwentner L., Scott R.J., Scott C., Seynaeve C., Shah M., Simard J., Smeets A., Sohn C., Southey M.C., Swerdlow A.J., Talhouk A., Tamimi R.M., Tapper W.J., Teixeira M.R., Tengstrom M., Terry M.B., Thone K., Tollenaar R.A.E.M., Tomlinson I., Torres D., Truong T., Turman C., Turnbull C., Ulmer H.-U., Untch M., Vachon C., van Asperen C.J., van den Ouweland A.M.W., van Veen E.M., Wendt C., Whittemore A.S., Willett W., Winqvist R., Wolk A., Yang X.R., Zhang Y., Easton D.F., Fasching P.A., Nevanlinna H., Eccles D.M., Pharoah P.D.P., Schmidt M.K., Escala-Garcia M., Guo Q., Dork T., Canisius S., Keeman R., Dennis J., Beesley J., Lecarpentier J., Bolla M.K., Wang Q., Abraham J., Andrulis I.L., Anton-Culver H., Arndt V., Auer P.L., Beckmann M.W., Behrens S., Benitez J., Bermisheva M., Bernstein L., Blomqvist C., Boeckx B., Bojesen S.E., Bonanni B., Borresen-Dale A.-L., Brauch H., Brenner H., Brentnall A., Brinton L., Broberg P., Brock I.W., Brucker S.Y., Burwinkel B., Caldas C., Caldes T., Campa D., Canzian F., Carracedo A., Carter B.D., Castelao J.E., Chang-Claude J., Chanock S.J., Chenevix-Trench G., Cheng T.-Y.D., Chin S.-F., Clarke C.L., Cordina-Duverger E., Couch F.J., Cox D.G., Cox A., Cross S.S., Czene K., Daly M.B., Devilee P., Dunn J.A., Dunning A.M., Durcan L., Dwek M., Earl H.M., Ekici A.B., Eliassen A.H., Ellberg C., Engel C., Eriksson M., Evans D.G., Figueroa J., Flesch-Janys D., Flyger H., Gabrielson M., Gago-Dominguez M., Galle E., Gapstur S.M., Garcia-Saenz J.A., Gaudet M.M., George A., Georgoulias V., Giles G.G., Glendon G., Goldgar D.E., Gonzalez-Neira A., Alnaes G.I.G., Grip M., Guenel P., Haeberle L., Hahnen E., Haiman C.A., Hakansson N., Hall P., Hamann U., Hankinson S., Harkness E.F., Harrington P.A., Hart S.N., Hartikainen J.M., Hein A., Hillemanns P., Hiller L., Holleczek B., Hollestelle A., Hooning M.J., Hoover R.N., Hopper J.L., Howell A., Huang G., Humphreys K., Hunter D.J., Janni W., John E.M., Jones M.E., Jukkola-Vuorinen A., Jung A., Kaaks R., Kabisch M., Kaczmarek K., Kerin M.J., Khan S., Khusnutdinova E., Kiiski J.I., Kitahara C.M., Knight J.A., Ko Y.-D., Koppert L.B., Kosma V.-M., Kraft P., Kristensen V.N., Kruger U., Kuhl T., Lambrechts D., Le Marchand L., Lee E., Lejbkowicz F., Li L., Lindblom A., Lindstrom S., Linet M., Lissowska J., Lo W.-Y., Loibl S., Lubinski J., Lux M.P., MacInnis R.J., Maierthaler M., Maishman T., Makalic E., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Martinez M.E., Mavroudis D., McLean C., Meindl A., Middha P., Miller N., and Milne R.L.
Abstract: Background: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. Method(s): Meta-analyses included summary estimates based on Cox models of twelve datasets using ~10.4 million variants for 96,661 women with breast cancer and 7697 events (breast cancer-specific deaths). Oestrogen receptor (ER)-specific analyses were based on 64,171 ER-positive (4116) and 16,172 ER-negative (2125) patients. We evaluated the probability of a signal to be a true positive using the Bayesian false discovery probability (BFDP). Result(s): We did not find any variant associated with breast cancer-specific mortality at P < 5 x 10-8. For ER-positive disease, the most significantly associated variant was chr7:rs4717568 (BFDP = 7%, P = 1.28 x 10-7, hazard ratio [HR] = 0.88, 95% confidence interval [CI] = 0.84-0.92); the closest gene is AUTS2. For ER-negative disease, the most significant variant was chr7:rs67918676 (BFDP = 11%, P = 1.38 x 10-7, HR = 1.27, 95% CI = 1.16-1.39); located within a long intergenic non-coding RNA gene (AC004009.3), close to the HOXA gene cluster. Conclusion(s): We uncovered germline variants on chromosome 7 at BFDP < 15% close to genes for which there is biological evidence related to breast cancer outcome. However, the paucity of variants associated with mortality at genome-wide significance underpins the challenge in providing genetic-based individualised prognostic information for breast cancer patients.Copyright © 2019, The Author(s).
Published: 2019

5. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.

Author: Giles G.G., Bonanni B., Pinchev M., Plaseska-Karanfilska D., Polley E.C., Prentice R., Presneau N., Prokofyeva D., Purrington K., Pylkas K., Rack B., Radice P., Rau-Murthy R., Rennert G., Rennert H.S., Rhenius V., Robson M., Romero A., Ruddy K.J., Ruebner M., Saloustros E., Sandler D.P., Sawyer E.J., Schmidt D.F., Schmutzler R.K., Schneeweiss A., Schoemaker M.J., Schumacher F., Schurmann P., Schwentner L., Scott C., Scott R.J., Seynaeve C., Shah M., Sherman M.E., Shrubsole M.J., Shu X.-O., Slager S., Smeets A., Sohn C., Soucy P., Southey M.C., Spinelli J.J., Stegmaier C., Stone J., Swerdlow A.J., Tamimi R.M., Tapper W.J., Taylor J.A., Terry M.B., Thone K., Tollenaar R.A.E.M., Tomlinson I., Truong T., Tzardi M., Ulmer H.-U., Untch M., Vachon C.M., van Veen E.M., Vijai J., Weinberg C.R., Wendt C., Whittemore A.S., Wildiers H., Willett W., Winqvist R., Wolk A., Yang X.R., Yannoukakos D., Zhang Y., Zheng W., Ziogas A., Dunning A.M., Thompson D.J., Chenevix-Trench G., Chang-Claude J., Schmidt M.K., Hall P., Milne R.L., Pharoah P.D.P., Antoniou A.C., Chatterjee N., Kraft P., Garcia-Closas M., Simard J., Easton D.F., Allen J., Mavaddat N., Michailidou K., Dennis J., Lush M., Fachal L., Lee A., Tyrer J.P., Chen T.-H., Wang Q., Bolla M.K., Yang X., Adank M.A., Ahearn T., Aittomaki K., Andrulis I.L., Anton-Culver H., Antonenkova N.N., Arndt V., Aronson K.J., Auer P.L., Auvinen P., Barrdahl M., Beane Freeman L.E., Beckmann M.W., Behrens S., Benitez J., Bermisheva M., Bernstein L., Blomqvist C., Bogdanova N.V., Bojesen S.E., Borresen-Dale A.-L., Brauch H., Bremer M., Brenner H., Brentnall A., Brock I.W., Brooks-Wilson A., Brucker S.Y., Bruning T., Burwinkel B., Campa D., Carter B.D., Castelao J.E., Chanock S.J., Chlebowski R., Christiansen H., Clarke C.L., Collee J.M., Cordina-Duverger E., Cornelissen S., Couch F.J., Cox A., Cross S.S., Czene K., Daly M.B., Devilee P., Dork T., dos-Santos-Silva I., Dumont M., Durcan L., Dwek M., Eccles D.M., Ekici A.B., Eliassen A.H., Ellberg C., Engel C., Eriksson M., Evans D.G., Fasching P.A., Figueroa J., Fletcher O., Flyger H., Forsti A., Fritschi L., Gabrielson M., Gago-Dominguez M., Gapstur S.M., Garcia-Saenz J.A., Gaudet M.M., Georgoulias V., Gilyazova I.R., Glendon G., Goldberg M.S., Goldgar D.E., Gonzalez-Neira A., Grenaker Alnaes G.I., Grip M., Gronwald J., Grundy A., Guenel P., Haeberle L., Hahnen E., Haiman C.A., Hakansson N., Hamann U., Hankinson S.E., Harkness E.F., Hart S.N., He W., Hein A., Heyworth J., Hillemanns P., Hollestelle A., Hooning M.J., Hoover R.N., Hopper J.L., Howell A., Huang G., Humphreys K., Hunter D.J., Jakimovska M., Jakubowska A., Janni W., John E.M., Johnson N., Jones M.E., Jukkola-Vuorinen A., Jung A., Kaaks R., Kaczmarek K., Kataja V., Keeman R., Kerin M.J., Khusnutdinova E., Kiiski J.I., Knight J.A., Ko Y.-D., Kosma V.-M., Koutros S., Kristensen V.N., Kruger U., Kuhl T., Lambrechts D., Le Marchand L., Lee E., Lejbkowicz F., Lilyquist J., Lindblom A., Lindstrom S., Lissowska J., Lo W.-Y., Loibl S., Long J., Lubinski J., Lux M.P., MacInnis R.J., Maishman T., Makalic E., Maleva Kostovska I., Mannermaa A., Manoukian S., Margolin S., Martens J.W.M., Martinez M.E., Mavroudis D., McLean C., Meindl A., Menon U., Middha P., Miller N., Moreno F., Mulligan A.M., Mulot C., Munoz-Garzon V.M., Neuhausen S.L., Nevanlinna H., Neven P., Newman W.G., Nielsen S.F., Nordestgaard B.G., Norman A., Offit K., Olson J.E., Olsson H., Orr N., Pankratz V.S., Park-Simon T.-W., Perez J.I.A., Perez-Barrios C., Peterlongo P., Peto J., Giles G.G., Bonanni B., Pinchev M., Plaseska-Karanfilska D., Polley E.C., Prentice R., Presneau N., Prokofyeva D., Purrington K., Pylkas K., Rack B., Radice P., Rau-Murthy R., Rennert G., Rennert H.S., Rhenius V., Robson M., Romero A., Ruddy K.J., Ruebner M., Saloustros E., Sandler D.P., Sawyer E.J., Schmidt D.F., Schmutzler R.K., Schneeweiss A., Schoemaker M.J., Schumacher F., Schurmann P., Schwentner L., Scott C., Scott R.J., Seynaeve C., Shah M., Sherman M.E., Shrubsole M.J., Shu X.-O., Slager S., Smeets A., Sohn C., Soucy P., Southey M.C., Spinelli J.J., Stegmaier C., Stone J., Swerdlow A.J., Tamimi R.M., Tapper W.J., Taylor J.A., Terry M.B., Thone K., Tollenaar R.A.E.M., Tomlinson I., Truong T., Tzardi M., Ulmer H.-U., Untch M., Vachon C.M., van Veen E.M., Vijai J., Weinberg C.R., Wendt C., Whittemore A.S., Wildiers H., Willett W., Winqvist R., Wolk A., Yang X.R., Yannoukakos D., Zhang Y., Zheng W., Ziogas A., Dunning A.M., Thompson D.J., Chenevix-Trench G., Chang-Claude J., Schmidt M.K., Hall P., Milne R.L., Pharoah P.D.P., Antoniou A.C., Chatterjee N., Kraft P., Garcia-Closas M., Simard J., Easton D.F., Allen J., Mavaddat N., Michailidou K., Dennis J., Lush M., Fachal L., Lee A., Tyrer J.P., Chen T.-H., Wang Q., Bolla M.K., Yang X., Adank M.A., Ahearn T., Aittomaki K., Andrulis I.L., Anton-Culver H., Antonenkova N.N., Arndt V., Aronson K.J., Auer P.L., Auvinen P., Barrdahl M., Beane Freeman L.E., Beckmann M.W., Behrens S., Benitez J., Bermisheva M., Bernstein L., Blomqvist C., Bogdanova N.V., Bojesen S.E., Borresen-Dale A.-L., Brauch H., Bremer M., Brenner H., Brentnall A., Brock I.W., Brooks-Wilson A., Brucker S.Y., Bruning T., Burwinkel B., Campa D., Carter B.D., Castelao J.E., Chanock S.J., Chlebowski R., Christiansen H., Clarke C.L., Collee J.M., Cordina-Duverger E., Cornelissen S., Couch F.J., Cox A., Cross S.S., Czene K., Daly M.B., Devilee P., Dork T., dos-Santos-Silva I., Dumont M., Durcan L., Dwek M., Eccles D.M., Ekici A.B., Eliassen A.H., Ellberg C., Engel C., Eriksson M., Evans D.G., Fasching P.A., Figueroa J., Fletcher O., Flyger H., Forsti A., Fritschi L., Gabrielson M., Gago-Dominguez M., Gapstur S.M., Garcia-Saenz J.A., Gaudet M.M., Georgoulias V., Gilyazova I.R., Glendon G., Goldberg M.S., Goldgar D.E., Gonzalez-Neira A., Grenaker Alnaes G.I., Grip M., Gronwald J., Grundy A., Guenel P., Haeberle L., Hahnen E., Haiman C.A., Hakansson N., Hamann U., Hankinson S.E., Harkness E.F., Hart S.N., He W., Hein A., Heyworth J., Hillemanns P., Hollestelle A., Hooning M.J., Hoover R.N., Hopper J.L., Howell A., Huang G., Humphreys K., Hunter D.J., Jakimovska M., Jakubowska A., Janni W., John E.M., Johnson N., Jones M.E., Jukkola-Vuorinen A., Jung A., Kaaks R., Kaczmarek K., Kataja V., Keeman R., Kerin M.J., Khusnutdinova E., Kiiski J.I., Knight J.A., Ko Y.-D., Kosma V.-M., Koutros S., Kristensen V.N., Kruger U., Kuhl T., Lambrechts D., Le Marchand L., Lee E., Lejbkowicz F., Lilyquist J., Lindblom A., Lindstrom S., Lissowska J., Lo W.-Y., Loibl S., Long J., Lubinski J., Lux M.P., MacInnis R.J., Maishman T., Makalic E., Maleva Kostovska I., Mannermaa A., Manoukian S., Margolin S., Martens J.W.M., Martinez M.E., Mavroudis D., McLean C., Meindl A., Menon U., Middha P., Miller N., Moreno F., Mulligan A.M., Mulot C., Munoz-Garzon V.M., Neuhausen S.L., Nevanlinna H., Neven P., Newman W.G., Nielsen S.F., Nordestgaard B.G., Norman A., Offit K., Olson J.E., Olsson H., Orr N., Pankratz V.S., Park-Simon T.-W., Perez J.I.A., Perez-Barrios C., Peterlongo P., and Peto J.
Abstract: Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to empirically validate the PRSs in prospective studies. The development dataset comprised 94,075 case subjects and 75,017 control subjects of European ancestry from 69 studies, divided into training and validation sets. Samples were genotyped using genome-wide arrays, and single-nucleotide polymorphisms (SNPs) were selected by stepwise regression or lasso penalized regression. The best performing PRSs were validated in an independent test set comprising 11,428 case subjects and 18,323 control subjects from 10 prospective studies and 190,040 women from UK Biobank (3,215 incident breast cancers). For the best PRSs (313 SNPs), the odds ratio for overall disease per 1 standard deviation in ten prospective studies was 1.61 (95%CI: 1.57-1.65) with area under receiver-operator curve (AUC) = 0.630 (95%CI: 0.628-0.651). The lifetime risk of overall breast cancer in the top centile of the PRSs was 32.6%. Compared with women in the middle quintile, those in the highest 1% of risk had 4.37- and 2.78-fold risks, and those in the lowest 1% of risk had 0.16- and 0.27-fold risks, of developing ER-positive and ER-negative disease, respectively. Goodness-of-fit tests indicated that this PRS was well calibrated and predicts disease risk accurately in the tails of the distribution. This PRS is a powerful and reliable predictor of breast cancer risk that may improve breast cancer prevention programs.Copyright © 2018 The Authors
Published: 2019

6. Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation (vol 5, 4999, 2014)

Author: Ghoussaini, M., Edwards, S.L., Michailidou, K., Nord, S., Lari, R.C.S., Desai, K., Kar, S., Hillman, K.M., Kaufmann, S., Glubb, D.M., Beesley, J., Dennis, J., Bolla, M.K., Wang, Q., Dicks, E., Guo, Q., Schmidt, M.K., Shah, M., Luben, R., Brown, J., Czene, K., Darabi, H., Eriksson, M., Klevebring, D., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Lambrechts, D., Thienpont, B., Neven, P., Wildiers, H., Broeks, A., Van't Veer, L.J., Rutgers, E.J.T., Couch, F.J., Olson, J.E., Hallberg, E., Vachon, C., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Peto, J., dos-Santos-Silva, I., Gibson, L., Nevanlinna, H., Muranen, T.A., Aittomaki, K., Blomqvist, C., Hall, P., Li, J.M., Liu, J.J., Humphreys, K., Kang, D., Choi, J.Y., Park, S.K., Noh, D.Y., Matsuo, K., Ito, H., Iwata, H., Yatabe, Y., Guenel, P., Truong, T., Menegaux, F., Sanchez, M., Burwinkel, B., Marme, F., Schneeweiss, A., Sohn, C., Wu, A.H., Tseng, C.C., Berg, D. van den, Stram, D.O., Benitez, J., Zamora, M., Perez, J.I.A., Menendez, P., Shu, X.O., Lu, W., Gao, Y.T., Cai, Q.Y., Cox, A., Cross, S.S., Reed, M.W.R., Andrulis, I.L., Knight, J.A., Glendon, G., Tchatchou, S., Sawyer, E.J., Tomlinson, I., Kerin, M.J., Miller, N., Haiman, C.A., Henderson, B.E., Schumacher, F., Marchand, L. le, Lindblom, A., Margolin, S., Teo, S.H., Yip, C.H., Lee, D.S.C., Wong, T.Y., Hooning, M.J., Martens, J.W.M., Collee, J.M., Deurzen, C.H.M. van, Hopper, J.L., Southey, M.C., Tsimiklis, H., Kapuscinski, M.K., Shen, C.Y., Wu, P.E., Yu, J.C., Chen, S.T., Alnaes, G.G., Borresen-Dale, A.L., Giles, G.G., Milne, R.L., McLean, C., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Hartman, M., Miao, H., Buhari, S.A.B.S., Teo, Y.Y., Fasching, P.A., Haeberle, L., Ekici, A.B., Beckmann, M.W., Brenner, H., Dieffenbach, A.K., Arndt, V., Stegmaier, C., Swerdlow, A., Ashworth, A., Orr, N., Schoemaker, M.J., Garcia-Closas, M., Figueroa, J., Chanock, S.J., Lissowska, J., Simard, J., Goldberg, M.S., Labreche, F., Dumont, M., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Brauch, H., Bruning, T., Koto, Y.D., Radice, P., Peterlongo, P., Bonanni, B., Volorio, S., Dork, T., Bogdanova, N.V., Helbig, S., Mannermaa, A., Kataja, V., Kosma, V.M., Hartikainen, J.M., Devilee, P., Tollenaar, R.A.E.M., Seynaeve, C., Asperen, C.J. van, Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Slager, S., Toland, A.E., Ambrosone, C.B., Yannoukakos, D., Sangrajrang, S., Gaborieau, V., Brennan, P., Mckay, J., Hamann, U., Torres, D., Zheng, W., Long, J.R., Anton-Culver, H., Neuhausen, S.L., Luccarini, C., Baynes, C., Ahmed, S., Maranian, M., Healey, C.S., Gonzalez-Neira, A., Pita, G., Alonso, M.R., Alvarez, N., Herrero, D., Tessier, D.C., Vincent, D., Bacot, F., Santiago, I. de, Carroll, J., Caldas, C., Brown, M.A., Lupien, M., Kristensen, V.N., Pharoah, P.D.P., Chenevix-Trench, G., French, J.D., Easton, D.F., Dunning, A.M., and Australian Ovarian Canc Management
Published: 2018

7. E-cadherin breast tumor expression, risk factors and survival: Pooled analysis of 5,933 cases from 12 studies in the Breast Cancer Association Consortium

Author: Horne, H.N. (Hisani N.), Oh, H. (Hannah), Sherman, M.E. (Mark), Palakal, M. (Maya), Hewitt, S.M. (Stephen), Schmidt, M.K. (Marjanka), Milne, R.L. (Roger), Hardisson, D. (D.), Benítez, J. (Javier), Blomqvist, C. (Carl), Bolla, M.K. (Manjeet K.), Brenner, H. (Hermann), Chang-Claude, J. (Jenny), Cora, R. (Renata), Couch, F.J. (Fergus J.), Cuk, K. (Katarina), Devilee, P. (Peter), Easton, D.F. (Douglas), Eccles, D.M. (Diana M.), Eilber, U. (Ursula), Hartikainen, J.M. (Jaana M.), Heikkilä, P. (Päivi), Holleczek, B. (B.), Hooning, M.J. (Maartje), Jones, M. (Michael), Keeman, J.N., Mannermaa, A. (Arto), Martens, J.W.M. (John), Muranen, T.A. (Taru A.), Nevanlinna, H. (Heli), Olson, J.E. (Janet), Orr, N. (Nick), Perez, J.I.A. (Jose I.A.), Pharoah, P.D.P. (Paul D.P.), Ruddy, K.J. (Kathryn J.), Saum, K.-U. (Kai-Uwe), Schoemaker, M.J. (Minouk J.), Seynaeve, C. (Caroline), Sironen, R. (Reijo), Smit, V.T.H.B.M. (Vincent), Swerdlow, A.J. (Anthony ), Tengström, M. (Maria), Thomas, A.S. (Abigail S.), Timmermans, A.M. (Annemieke), Tollenaar, R.A.E.M. (Rob), Troester, M.A. (Melissa A.), Van Asperen, C.J. (Christi J.), Deurzen, C.H.M. (Carolien) van, Van Leeuwen, F.F. (Flora F.), Veer, L.J. (Laura) van 't, García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Horne, H.N. (Hisani N.), Oh, H. (Hannah), Sherman, M.E. (Mark), Palakal, M. (Maya), Hewitt, S.M. (Stephen), Schmidt, M.K. (Marjanka), Milne, R.L. (Roger), Hardisson, D. (D.), Benítez, J. (Javier), Blomqvist, C. (Carl), Bolla, M.K. (Manjeet K.), Brenner, H. (Hermann), Chang-Claude, J. (Jenny), Cora, R. (Renata), Couch, F.J. (Fergus J.), Cuk, K. (Katarina), Devilee, P. (Peter), Easton, D.F. (Douglas), Eccles, D.M. (Diana M.), Eilber, U. (Ursula), Hartikainen, J.M. (Jaana M.), Heikkilä, P. (Päivi), Holleczek, B. (B.), Hooning, M.J. (Maartje), Jones, M. (Michael), Keeman, J.N., Mannermaa, A. (Arto), Martens, J.W.M. (John), Muranen, T.A. (Taru A.), Nevanlinna, H. (Heli), Olson, J.E. (Janet), Orr, N. (Nick), Perez, J.I.A. (Jose I.A.), Pharoah, P.D.P. (Paul D.P.), Ruddy, K.J. (Kathryn J.), Saum, K.-U. (Kai-Uwe), Schoemaker, M.J. (Minouk J.), Seynaeve, C. (Caroline), Sironen, R. (Reijo), Smit, V.T.H.B.M. (Vincent), Swerdlow, A.J. (Anthony ), Tengström, M. (Maria), Thomas, A.S. (Abigail S.), Timmermans, A.M. (Annemieke), Tollenaar, R.A.E.M. (Rob), Troester, M.A. (Melissa A.), Van Asperen, C.J. (Christi J.), Deurzen, C.H.M. (Carolien) van, Van Leeuwen, F.F. (Flora F.), Veer, L.J. (Laura) van 't, García-Closas, M. (Montserrat), and Figueroa, J.D. (Jonine)
Abstract: E-cadherin (CDH1) is a putative tumor suppressor gene implicated in breast carcinogenesis. Yet, whether risk factors or survival differ by E-cadherin tumor expression is unclear. We evaluated E-cadherin tumor immunohistochemistry expression using tissue microarrays of 5,933 female invasive breast cancers from 12 studies from the Breast Cancer Consortium. H-scores were calculated and case-case odds ratios (OR) and 95% confidence intervals (CIs) were estimated using logistic regression. Survival analyses were performed using Cox regression models. All analyses were stratified by estrogen receptor (ER) status and histologic subtype. E-cadherin low cases (N = 1191, 20%) were more frequently of lobular histology, low grade, >2 cm, and HER2-negative. Loss of E-cadherin expression (score < 100) was associated with menopausal hormone use among ER-positive tumors (ever compared to never users, OR = 1.24, 95% CI = 0.97-1.59), which was stronger when we evaluated complete loss of E-cadherin (i.e. H-score = 0), OR = 1.57, 95% CI = 1.06-2.33. Breast cancer specific mortality was unrelated to E-cadherin expression in multivariable models. E-cadherin low expression is associated with lobular histology, tumor characteristics and menopausal hormone use, with no evidence of an association with breast cancer specific survival. These data support loss of E-cadherin expression as an important marker of tumor subtypes.
Published: 2018
Full Text: View/download PDF

8. Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade

Author: Purrington, K.S., Slettedahl, S., Bolla, M.K., Michailidou, K., Czene, K., Nevanlinna, H., Bojesen, S.E., Andrulis, I.L., Cox, A., Hall, P., Carpenter, J., Yannoukakos, D., Haiman, C.A., Fasching, P.A., Mannermaa, A., Winqvist, R., Brenner, H., Lindblom, A., Chenevix-Trench, G., Benitez, J., Swerdlow, A., Kristensen, V., Guenel, P., Meindl, A., Darabi, H., Eriksson, M., Fagerholm, R., Aittomaki, K., Blomqvist, C., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Wang, X.S., Olswold, C., Olson, J.E., Mulligan, A.M., Knight, J.A., Tchatchou, S., Reed, M.W.R., Cross, S.S., Liu, J.J., Li, J.M., Humphreys, K., Clarke, C., Scott, R., Fostira, F., Fountzilas, G., Konstantopoulou, I., Henderson, B.E., Schumacher, F., Marchand, L. le, Ekici, A.B., Hartmann, A., Beckmann, M.W., Hartikainen, J.M., Kosma, V.M., Kataja, V., Jukkola-Vuorinen, A., Pylkas, K., Kauppila, S., Dieffenbach, A.K., Stegmaier, C., Arndt, V., Margolin, S., Balleine, R., Perez, J.I.A., Zamora, M.P., Menendez, P., Ashworth, A., Jones, M., Orr, N., Arveux, P., Kerbrat, P., Truong, T., Bugert, P., Toland, A.E., Ambrosone, C.B., Labreche, F., Goldberg, M.S., Dumont, M., Ziogas, A., Lee, E., Dite, G.S., Apicella, C., Southey, M.C., Long, J.R., Shrubsole, M., Deming-Halverson, S., Ficarazzi, F., Barile, M., Peterlongo, P., Durda, K., Jaworska-Bieniek, K., Tollenaar, R.A.E.M., Seynaeve, C., Bruning, T., Ko, Y.D., Deurzen, C.H.M. van, Martens, J.W.M., Kriege, M., Figueroa, J.D., Chanock, S.J., Lissowska, J., Tomlinson, I., Kerin, M.J., Miller, N., Schneeweiss, A., Tapper, W.J., Gerty, S.M., Durcan, L., Mclean, C., Milne, R.L., Baglietto, L., Silva, I.D., Fletcher, O., Johnson, N., Van'T Veer, L.J., Cornelissen, S., Forsti, A., Torres, D., Rudiger, T., Rudolph, A., Flesch-Janys, D., Nickels, S., Weltens, C., Floris, G., Moisse, M., Dennis, J., Wang, Q., Dunning, A.M., Shah, M., Brown, J., Simard, J., Anton-Culver, H., Neuhausen, S.L., Hopper, J.L., Bogdanova, N., Dork, T., Zheng, W., Radice, P., Jakubowska, A., Lubinski, J., Devillee, P., Brauch, H., Hooning, M., Garcia-Closas, M., Sawyer, E., Burwinkel, B., Marmee, F., Eccles, D.M., Giles, G.G., Peto, J., Schmidt, M., Broeks, A., Hamann, U., Chang-Claude, J., Lambrechts, D., Pharoah, P.D.P., Easton, D., Pankratz, V.S., Slager, S., Vachon, C.M., Couch, F.J., ABCTB Investigators, Australian Ovarian Canc Study Grp, kConFab Investigators, GENICA Network, Medical Oncology, Pathology, and Clinical Genetics
Subjects: Oncology, Candidate gene, Fibroblast Growth Factor, amplification, cancer susceptibility loci, Bioinformatics, medicine.disease_cause, Medical and Health Sciences, prostate-cancer, Prostate cancer, Risk Factors, Medizinische Fakultät, Genetics (clinical), Genetics & Heredity, tacc2, Association Studies Articles, Single Nucleotide, General Medicine, Biological Sciences, ddc, risk loci, cell-division, kConFab Investigators, Female, GENICA Network, Type 2, Receptor, Australian Ovarian Cancer Study Group, Breast Neoplasms, Carrier Proteins, Case-Control Studies, Haplotypes, Humans, Neoplasm Staging, Polymorphism, Single Nucleotide, Receptor, Fibroblast Growth Factor, Type 2, Tumor Suppressor Proteins, Genetic Variation, Molecular Biology, Genetics, medicine.medical_specialty, Mitotic index, ABCTB Investigators, Single-nucleotide polymorphism, Biology, Breast cancer, SDG 3 - Good Health and Well-being, Internal medicine, medicine, ddc:610, Polymorphism, Lung cancer, Odds ratio, medicine.disease, genome-wide association, lung-cancer, progression, Carcinogenesis
Abstract: Mitotic index is an important component of histologic grade and has an etiologic role in breast tumorigenesis. Several small candidate gene studies have reported associations between variation in mitotic genes and breast cancer risk. We measured associations between 2156 single nucleotide polymorphisms (SNPs) from 194 mitotic genes and breast cancer risk, overall and by histologic grade, in the Breast Cancer Association Consortium (BCAC) iCOGS study (n = 39 067 cases; n = 42 106 controls). SNPs in TACC2 [rs17550038: odds ratio (OR) = 1.24, 95% confidence interval (CI) 1.16-1.33, P = 4.2 × 10(-10)) and EIF3H (rs799890: OR = 1.07, 95% CI 1.04-1.11, P = 8.7 × 10(-6)) were significantly associated with risk of low-grade breast cancer. The TACC2 signal was retained (rs17550038: OR = 1.15, 95% CI 1.07-1.23, P = 7.9 × 10(-5)) after adjustment for breast cancer risk SNPs in the nearby FGFR2 gene, suggesting that TACC2 is a novel, independent genome-wide significant genetic risk locus for low-grade breast cancer. While no SNPs were individually associated with high-grade disease, a pathway-level gene set analysis showed that variation across the 194 mitotic genes was associated with high-grade breast cancer risk (P = 2.1 × 10(-3)). These observations will provide insight into the contribution of mitotic defects to histological grade and the etiology of breast cancer.
Published: 2014

9. Body mass index and breast cancer survival

Author: Guo, Q. (Qi), Burgess, S. (Stephen), Turman, C. (Constance), Bolla, M.K. (Manjeet K.), Wang, Q. (Qin), Lush, M. (Michael), Abraham, J. (Jean), Aittomäki, K. (Kristiina), Andrulis, I.L. (Irene), Apicella, C. (Carmel), Arndt, V. (Volker), Barrdahl, M. (Myrto), Benítez, J. (Javier), Berg, C.D. (Christine), Blomqvist, C. (Carl), Bojesen, S.E. (Stig), Bonnani, B. (Bernardo), Brand, J.S. (Judith S.), Brenner, H. (Hermann), Broeks, A. (Annegien), Burwinkel, B. (Barbara), Caldas, C. (Carlos), Campa, D. (Daniele), Canzian, F. (Federico), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen), Chin, S.-F. (Suet-Feung), Couch, F.J. (Fergus J.), Cox, A. (Angela), Cross, S.S. (Simon), Cybulski, C. (Cezary), Czene, K. (Kamila), Darabi, H. (Hatef), Devilee, P. (Peter), Diver, W.R. (Ryan), Dunning, A.M. (Alison), Earl, H. (Helena), Eccles, D.M. (Diana M.), Ekici, A.B. (Arif B.), Eriksson, M. (Mats), Evans, D.G. (D Gareth), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Flyger, H. (Henrik), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia M.), Giles, G.G. (Graham G.), Glendon, G. (Gord), Grip, M. (Mervi), Gronwald, J. (Jacek), Haeberle, L. (Lothar), Haiman, C.A. (Christopher), Hall, P. (Per), Hamann, U. (Ute), Hankinson, S.E. (Susan), Hartikainen, J.M. (Jaana M.), Hein, A. (Alexander), Hiller, L. (Louise), Hogervorst, F.B. (Frans B.), Holleczek, B. (B.), Hooning, M.J. (Maartje), Hoover, R.N. (Robert), Humphreys, K. (Keith), Hunter, D. (David), Hüsing, A. (Anika), Jakubowska, A. (Anna), Jukkola-Vuorinen, A. (Arja), Kaaks, R. (Rudolf), Kabisch, M. (Maria), Kataja, V. (Vesa), Knight, J.A. (Julia), Koppert, L.B. (Linetta), Kosma, V-M. (Veli-Matti), Kristensen, V.N. (Vessela N.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Li, J. (Jingmei), Lindblom, A. (Annika), Lindström, S. (Sara), Lissowska, J. (Jolanta), Lubinski, J. (Jan), Machiela, M.J. (Mitchell J.), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Marme, F. (Federik), Martens, J.W.M. (John), McLean, C.A. (Catriona Ann), Menéndez, P. (Primitiva), Milne, R.L. (Roger), Mulligan, A.-M. (Anna-Marie), Muranen, T.A. (Taru A.), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nielsen, S.F. (Sune F.), Nordestgaard, B.G. (Børge), Olson, J.E. (Janet), Perez, J.I.A. (Jose Ignacio Arias), Peterlongo, P. (Paolo), Phillips, K.-A. (Kelly-Anne), Poole, C.J. (Christopher J.), Pykäs, K. (Katri), Radice, P. (Paolo), Rahman, N. (Nazneen), Rud̈iger, T. (Thomas), Rudolph, A. (Anja), Sawyer, E.J. (Elinor), Schumacher, F.R. (Fredrick R), Seibold, P. (Petra), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Smeets, A. (Ann), Southey, M.C. (Melissa C.), Tollenaar, R.A.E.M. (Rob), Tomlinson, I.P. (Ian), Tsimiklis, H. (Helen), Ulmer, H.U. (Hans), Vachon, C. (Celine), Ouweland, A.M.W. (Ans) van den, Veer, L.J. (Laura) van 't, Wildiers, H. (Hans), Willett, W.C. (Walter C.), Winqvist, R. (Robert), Zamora, M.P. (Pilar), Chenevix-Trench, G. (Georgia), Dörk, T. (Thilo), Easton, D.F. (Douglas), García-Closas, M. (Montserrat), Kraft, P. (Peter), Hopper, J.L. (John), Zheng, W. (Wei), Schmidt, M.K. (Marjanka), Pharoah, P.D.P. (Paul), Guo, Q. (Qi), Burgess, S. (Stephen), Turman, C. (Constance), Bolla, M.K. (Manjeet K.), Wang, Q. (Qin), Lush, M. (Michael), Abraham, J. (Jean), Aittomäki, K. (Kristiina), Andrulis, I.L. (Irene), Apicella, C. (Carmel), Arndt, V. (Volker), Barrdahl, M. (Myrto), Benítez, J. (Javier), Berg, C.D. (Christine), Blomqvist, C. (Carl), Bojesen, S.E. (Stig), Bonnani, B. (Bernardo), Brand, J.S. (Judith S.), Brenner, H. (Hermann), Broeks, A. (Annegien), Burwinkel, B. (Barbara), Caldas, C. (Carlos), Campa, D. (Daniele), Canzian, F. (Federico), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen), Chin, S.-F. (Suet-Feung), Couch, F.J. (Fergus J.), Cox, A. (Angela), Cross, S.S. (Simon), Cybulski, C. (Cezary), Czene, K. (Kamila), Darabi, H. (Hatef), Devilee, P. (Peter), Diver, W.R. (Ryan), Dunning, A.M. (Alison), Earl, H. (Helena), Eccles, D.M. (Diana M.), Ekici, A.B. (Arif B.), Eriksson, M. (Mats), Evans, D.G. (D Gareth), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Flyger, H. (Henrik), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia M.), Giles, G.G. (Graham G.), Glendon, G. (Gord), Grip, M. (Mervi), Gronwald, J. (Jacek), Haeberle, L. (Lothar), Haiman, C.A. (Christopher), Hall, P. (Per), Hamann, U. (Ute), Hankinson, S.E. (Susan), Hartikainen, J.M. (Jaana M.), Hein, A. (Alexander), Hiller, L. (Louise), Hogervorst, F.B. (Frans B.), Holleczek, B. (B.), Hooning, M.J. (Maartje), Hoover, R.N. (Robert), Humphreys, K. (Keith), Hunter, D. (David), Hüsing, A. (Anika), Jakubowska, A. (Anna), Jukkola-Vuorinen, A. (Arja), Kaaks, R. (Rudolf), Kabisch, M. (Maria), Kataja, V. (Vesa), Knight, J.A. (Julia), Koppert, L.B. (Linetta), Kosma, V-M. (Veli-Matti), Kristensen, V.N. (Vessela N.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Li, J. (Jingmei), Lindblom, A. (Annika), Lindström, S. (Sara), Lissowska, J. (Jolanta), Lubinski, J. (Jan), Machiela, M.J. (Mitchell J.), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Marme, F. (Federik), Martens, J.W.M. (John), McLean, C.A. (Catriona Ann), Menéndez, P. (Primitiva), Milne, R.L. (Roger), Mulligan, A.-M. (Anna-Marie), Muranen, T.A. (Taru A.), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nielsen, S.F. (Sune F.), Nordestgaard, B.G. (Børge), Olson, J.E. (Janet), Perez, J.I.A. (Jose Ignacio Arias), Peterlongo, P. (Paolo), Phillips, K.-A. (Kelly-Anne), Poole, C.J. (Christopher J.), Pykäs, K. (Katri), Radice, P. (Paolo), Rahman, N. (Nazneen), Rud̈iger, T. (Thomas), Rudolph, A. (Anja), Sawyer, E.J. (Elinor), Schumacher, F.R. (Fredrick R), Seibold, P. (Petra), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Smeets, A. (Ann), Southey, M.C. (Melissa C.), Tollenaar, R.A.E.M. (Rob), Tomlinson, I.P. (Ian), Tsimiklis, H. (Helen), Ulmer, H.U. (Hans), Vachon, C. (Celine), Ouweland, A.M.W. (Ans) van den, Veer, L.J. (Laura) van 't, Wildiers, H. (Hans), Willett, W.C. (Walter C.), Winqvist, R. (Robert), Zamora, M.P. (Pilar), Chenevix-Trench, G. (Georgia), Dörk, T. (Thilo), Easton, D.F. (Douglas), García-Closas, M. (Montserrat), Kraft, P. (Peter), Hopper, J.L. (John), Zheng, W. (Wei), Schmidt, M.K. (Marjanka), and Pharoah, P.D.P. (Paul)
Abstract: __Background:__ There is increasing evidence that elevated body mass index (BMI) is associated with reduced survival for women with breast cancer. However, the underlying reasons remain unclear. We conducted a Mendelian randomization analysis to investigate a possible causal role of BMI in survival from breast cancer. __Methods:__ We used individual-level data from six large breast cancer case-cohorts including a total of 36 210 individuals (2475 events) of European ancestry. We created a BMI genetic risk score (GRS) based on genotypes at 94 known BMI-associated genetic variants. Association between the BMI genetic score and breast cancer survival was analysed by Cox regression for each study separately. Study-specific hazard ratios were pooled using fixed-effect meta-analysis. __Results:__
Published: 2017
Full Text: View/download PDF

10. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

Author: Lin, W.Y., Camp, N.J., Ghoussaini, M., Beesley, J., Michailidou, K., Hopper, J.L., Apicella, C., Southey, M.C., Stone, J., Schmidt, M.K., Broeks, A., Van't Veer, L.J., Rutgers, E.J.T., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Fasching, P.A., Haeberle, L., Ekici, A.B., Beckmann, M.W., Peto, J., Dos-Santos-Silva, I., Fletcher, O., Johnson, N., Bolla, M.K., Wang, Q., Dennis, J., Sawyer, E.J., Cheng, T., Tomlinson, I., Kerin, M.J., Miller, N., Marme, F., Surowy, H.M., Burwinkel, B., Guenel, P., Truong, T., Menegaux, F., Mulot, C., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Benitez, J., Zamora, M.P., Perez, J.I.A., Menendez, P., Gonzalez-Neira, A., Pita, G., Alonso, M.R., Alvarez, N., Herrera, D., Anton-Culver, H., Brenner, H., Dieffenbach, A.K., Arndt, V., Stegmaier, C., Meindl, A., Lichtner, P., Schmutzler, R.K., Muller-Myhsok, B., Brauch, H., Bruning, T., Ko, Y.D., Tessier, D.C., Vincent, D., Bacot, F., Nevanlinna, H., Aittomaki, K., Blomqvist, C., Khan, S., Matsuo, K., Ito, H., Iwata, H., Horio, A., Bogdanova, N.V., Antonenkova, N.N., Dork, T., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V.M., Hartikainen, J.M., Wu, A.H., Tseng, C.C., Berg, D. van den, Stram, D.O., Neven, P., Wauters, E., Wildiers, H., Lambrechts, D., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Radice, P., Peterlongo, P., Manoukian, S., Bonanni, B., Couch, F.J., Wang, X.S., Vachon, C., Purrington, K., Giles, G.G., Milne, R.L., Mclean, C., Haiman, C.A., Henderson, B.E., Schumacher, F., Marchand, L. le, Simard, J., Goldberg, M.S., Labreche, F., Dumont, M., Teo, S.H., Yip, C.H., Hassan, N., Vithana, E.N., Kristensen, V., Zheng, W., Deming-Halverson, S., Shrubsole, M.J., Long, J.R., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Kauppila, S., Andrulis, I.L., Knight, J.A., Glendon, G., Tchatchou, S., Devilee, P., Tollenaar, R.A.E.M., Seynaeve, C., Asperen, C.J. van, Garcia-Closas, M., Figueroa, J., Lissowska, J., Brinton, L., Czene, K., Darabi, H., Eriksson, M., Brand, J.S., Hooning, M.J., Hollestelle, A., Ouweland, A.M.W. van den, Jager, A., Li, J.M., Liu, J.J., Humphreys, K., Shu, X.O., Lu, W., Gao, Y.T., Cai, H., Cross, S.S., Reed, M.W.R., Blot, W., Signorello, L.B., Cai, Q.Y., Pharoah, P.D.P., Perkins, B., Shah, M., Blows, F.M., Kang, D., Yoo, K.Y., Noh, D.Y., Hartman, M., Miao, H., Chia, K.S., Putti, T.C., Hamann, U., Luccarini, C., Baynes, C., Ahmed, S., Maranian, M., Healey, C.S., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Sangrajrang, S., Gaborieau, V., Brennan, P., Mckay, J., Slager, S., Toland, A.E., Yannoukakos, D., Shen, C.Y., Hsiung, C.N., Wu, P.E., Ding, S.L., Ashworth, A., Jones, M., Orr, N., Swerdlow, A.J., Tsimiklis, H., Makalic, E., Schmidt, D.F., Bui, Q.M., Chanock, S.J., Hunter, D.J., Hein, R., Dahmen, N., Beckmann, L., Aaltonen, K., Muranen, T.A., Heikkinen, T., Irwanto, A., Rahman, N., Turnbull, C.A., Waisfisz, Q., Meijers-Heijboer, H.E.J., Adank, M.A., Luijt, R.B. van der, Hall, P., Chenevix-Trench, G., Dunning, A., Easton, D.F., Cox, A., GENICA Network, kConFab Investigators, Australian Ovarian Canc Study Grp, Breast Ovarian Canc Susceptibility, Clinical Genetics, Obstetrics & Gynecology, Medical Oncology, Cardiothoracic Surgery, Cancer Center Amsterdam, Amsterdam Reproduction & Development (AR&D), Human Genetics, Human genetics, CCA - Oncogenesis, Ghoussaini, Maya [0000-0002-2415-2143], Wang, Jean [0000-0002-9139-0627], Dennis, Joe [0000-0003-4591-1214], Pharoah, Paul [0000-0001-8494-732X], Dunning, Alison [0000-0001-6651-7166], Easton, Douglas [0000-0003-2444-3247], and Apollo - University of Cambridge Repository
Subjects: Genotyping Techniques, Research Support, U.S. Gov't, P.H.S, CASP8 and FADD-Like Apoptosis Regulating Protein, Genome-wide association study, P.H.S, Medical and Health Sciences, Breast and Ovarian Cancer Susceptibility (BOCS) Study, Medizinische Fakultät, Genetics(clinical), Non-U.S. Gov't, Genetics (clinical), Genetics, Genetics & Heredity, variants, Caspase 8, Research Support, Non-U.S. Gov't, Association Studies Articles, General Medicine, Biological Sciences, ddc, Chromosomes, Human, Pair 2, kConFab Investigators, Female, GENICA Network, Australian Ovarian Cancer Study Group, European Continental Ancestry Group, Non-P.H.S, Single-nucleotide polymorphism, Breast Neoplasms, Biology, Research Support, Polymorphism, Single Nucleotide, White People, N.I.H, Breast cancer, Research Support, N.I.H., Extramural, SDG 3 - Good Health and Well-being, medicine, Journal Article, Humans, Genetic Predisposition to Disease, ddc:610, gene, Genotyping, Molecular Biology, Genetic association, disease, Extramural, Proteins, Odds ratio, medicine.disease, susceptibility loci, Minor allele frequency, Case-Control Studies, genome-wide association, enhancers, U.S. Gov't, casp8, Research Support, U.S. Gov't, Non-P.H.S, Genome-Wide Association Study
Abstract: Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regressionmodels adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further in data from nine genome-wide association studies (GWAS) comprising in total 10 052 case and 12 575 control subjects. The most significant association signal observed in European subjects was for the imputed intronic SNP rs1830298 in ALS2CR12 (telomeric to CASP8), with per allele odds ratio and 95% confidence interval [OR (95% confidence interval, CI)] for the minor allele of 1.05 (1.03-1.07), P = 1 × 10-5. Three additional independent signals from intronic SNPs were identified, in CASP8 (rs36043647), ALS2CR11 (rs59278883) and CFLAR (rs7558475). The association with rs1830298 was replicated in the imputed results from the combined GWAS (P=3 × 10-6), yielding a combined OR (95% CI) of 1.06 (1.04-1.08), P = 1 × 10-9. Analyses of gene expression associations in peripheral blood and normal breast tissue indicate that CASP8might be the target gene, suggesting amechanism involving apoptosis.
Published: 2016

11. Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

Author: Mavaddat, N., Pharoah, P.D.P., Michailidou, K., Tyrer, J., Brook, M.N., Bolla, M.K., Wang, Q., Dennis, J., Dunning, A.M., Shah, M., Luben, R., Brown, J., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Czene, K., Darabi, H., Eriksson, M., Peto, J., dos-Santos-Silva, I., Dudbridge, F., Johnson, N., Schmidt, M.K., Broeks, A., Verhoef, S., Rutgers, E.J., Swerdlow, A., Ashworth, A., Orr, N., Schoemaker, M.J., Figueroa, J., Chanock, S.J., Brinton, L., Lissowska, J., Couch, F.J., Olson, J.E., Vachon, C., Pankratz, V.S., Lambrechts, D., Wildiers, H., Ongeval, C. van, Limbergen, E. van, Kristensen, V., Alnaes, G.G., Nord, S., Borresen-Dale, A.L., Nevanlinna, H., Muranen, T.A., Aittomaki, K., Blomqvist, C., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Fasching, P.A., Haeberle, L., Ekici, A.B., Beckmann, M.W., Burwinkel, B., Marme, F., Schneeweiss, A., Sohn, C., Trentham-Dietz, A., Newcomb, P., Titus, L., Egan, K.M., Hunter, D.J., Lindstrom, S., Tamimi, R.M., Kraft, P., Rahman, N., Turnbull, C., Renwick, A., Seal, S., Li, J.M., Liu, J.J., Humphreys, K., Benitez, J., Zamora, M.P., Perez, J.I.A., Menendez, P., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Bogdanova, N.V., Antonenkova, N.N., Dork, T., Anton-Culver, H., Neuhausen, S.L., Ziogas, A., Bernstein, L., Devilee, P., Tollenaar, R.A.E.M., Seynaeve, C., Asperen, C.J. van, Cox, A., Cross, S.S., Reed, M.W.R., Khusnutdinova, E., Bermisheva, M., Prokofyeva, D., Takhirova, Z., Meindl, A., Schmutzler, R.K., Sutter, C., Yang, R.X., Schurmann, P., Bremer, M., Christiansen, H., Park-Simon, T.W., Hillemanns, P., Guenel, P., Truong, T., Menegaux, F., Sanchez, M., Radice, P., Peterlongo, P., Manoukian, S., Pensotti, V., Hopper, J.L., Tsimiklis, H., Apicella, C., Southey, M.C., Brauch, H., Bruning, T., Ko, Y.D., Sigurdson, A.J., Doody, M.M., Hamann, U., Torres, D., Ulmer, H.U., Forsti, A., Sawyer, E.J., Tomlinson, I., Kerin, M.J., Miller, N., Andrulis, I.L., Knight, J.A., Glendon, G., Mulligan, A.M., Chenevix-Trench, G., Balleine, R., Giles, G.G., Milne, R.L., McLean, C., Lindblom, A., Margolin, S., Haiman, C.A., Henderson, B.E., Schumacher, F., Marchand, L. le, Eilber, U., Wang-Gohrke, S., Hooning, M.J., Hollestelle, A., Ouweland, A.M.W. van den, Koppert, L.B., Carpenter, J., Clarke, C., Scott, R., Mannermaa, A., Kataja, V., Kosma, V.M., Hartikainen, J.M., Brenner, H., Arndt, V., Stegmaier, C., Dieffenbach, A.K., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Grip, M., Offit, K., Vijai, J., Robson, M., Rau-Murthy, R., Dwek, M., Swann, R., Perkins, K.A., Goldberg, M.S., Labreche, F., Dumont, M., Eccles, D.M., Tapper, W.J., Rafiq, S., John, E.M., Whittemore, A.S., Slager, S., Yannoukakos, D., Toland, A.E., Yao, S., Zheng, W., Halverson, S.L., Gonzalez-Neira, A., Pita, G., Alonso, M.R., Alvarez, N., Herrero, D., Tessier, D.C., Vincent, D., Bacot, F., Luccarini, C., Baynes, C., Ahmed, S., Maranian, M., Healey, C.S., Simard, J., Hall, P., Easton, D.F., Garcia-Closas, M., Clinical Genetics, Medical Oncology, Surgery, Department of Obstetrics and Gynecology, Clinicum, Medicum, Kristiina Aittomäki / Principal Investigator, Department of Medical and Clinical Genetics, Department of Oncology, HUS Gynecology and Obstetrics, Mavaddat, Nasim [0000-0003-0307-055X], Pharoah, Paul [0000-0001-8494-732X], Tyrer, Jonathan [0000-0003-3724-4757], Wang, Jean [0000-0002-9139-0627], Dennis, Joe [0000-0003-4591-1214], Dunning, Alison [0000-0001-6651-7166], Luben, Robert [0000-0002-5088-6343], Easton, Douglas [0000-0003-2444-3247], and Apollo - University of Cambridge Repository
Subjects: Adult, Genotype, 3122 Cancers, Breast Neoplasms, consortium, Polymorphism, Single Nucleotide, Risk Assessment, Article, prevention, SDG 3 - Good Health and Well-being, Predictive Value of Tests, Risk Factors, 3123 Gynaecology and paediatrics, Biomarkers, Tumor, Odds Ratio, Humans, Genetic Predisposition to Disease, family-history, Aged, prostate, Gene Expression Profiling, subtypes, Middle Aged, susceptibility loci, Europe, Gene Expression Regulation, Neoplastic, Receptors, Estrogen, Tumor Markers, Biological, Cancer and Oncology, genome-wide association, Female, women
Abstract: Background: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at different levels of breast cancer risk. Such stratification could guide preventive and screening strategies. However, empirical evidence for genetic risk stratification is lacking. Methods: We investigated the value of using 77 breast cancer-associated single nucleotide polymorphisms (SNPs) for risk stratification, in a study of 33 673 breast cancer cases and 33 381 control women of European origin. We tested all possible pair-wise multiplicative interactions and constructed a 77-SNP polygenic risk score (PRS) for breast cancer overall and by estrogen receptor (ER) status. Absolute risks of breast cancer by PRS were derived from relative risk estimates and UK incidence and mortality rates. Results: There was no strong evidence for departure from a multiplicative model for any SNP pair. Women in the highest 1 of the PRS had a three-fold increased risk of developing breast cancer compared with women in the middle quintile (odds ratio [OR] = 3.36, 95% confidence interval [CI] = 2.95 to 3.83). The ORs for ER-positive and ER-negative disease were 3.73 (95% CI = 3.24 to 4.30) and 2.80 (95% CI = 2.26 to 3.46), respectively. Lifetime risk of breast cancer for women in the lowest and highest quintiles of the PRS were 5.2% and 16.6% for a woman without family history, and 8.6% and 24.4% for a woman with a first-degree family history of breast cancer. Conclusions: The PRS stratifies breast cancer risk in women both with and without a family history of breast cancer. The observed level of risk discrimination could inform targeted screening and prevention strategies. Further discrimination may be achievable through combining the PRS with lifestyle/environmental factors, although these were not considered in this report. © 2015 © The Author 2015. Published by Oxford University Press.
Published: 2015

12. Identification of novel genetic markers of breast cancer survival

Author: Guo, Q., Schmidt, M.K., Kraft, P., Canisius, S., Chen, C., Khan, S., Tyrer, J., Bolla, M.K., Wang, Q., Dennis, J., Michailidou, K., Lush, M., Kar, S., Beesley, J., Dunning, A.M., Shah, M., Czene, K., Darabi, H., Eriksson, M., Lambrechts, D., Weltens, C., Leunen, K., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Blomqvist, C., Aittomaki, K., Fagerholm, R., Muranen, T.A., Couch, F.J., Olson, J.E., Vachon, C., Andrulis, I.L., Knight, J.A., Glendon, G., Mulligan, A.M., Broeks, A., Hogervorst, F.B., Haiman, C.A., Henderson, B.E., Schumacher, F., Marchand, L. le, Hopper, J.L., Tsimiklis, H., Apicella, C., Southey, M.C., Cox, A., Cross, S.S., Reed, M.W.R., Giles, G.G., Milne, R.L., McLean, C., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Grip, M., Hooning, M.J., Hollestelle, A., Martens, J.W.M., Ouweland, A.M.W. van den, Marme, F., Schneeweiss, A., Yang, R.X., Burwinkel, B., Figueroa, J., Chanock, S.J., Lissowska, J., Sawyer, E.J., Tomlinson, I., Kerin, M.J., Miller, N., Brenner, H., Dieffenbach, A.K., Arndt, V., Holleczek, B., Mannermaa, A., Kataja, V., Kosma, V.M., Hartikainen, J.M., Li, J.M., Brand, J.S., Humphreys, K., Devilee, P., Tollenaar, R.A.E.M., Seynaeve, C., Radice, P., Peterlongo, P., Bonanni, B., Mariani, P., Fasching, P.A., Beckmann, M.W., Hein, A., Ekici, A.B., Chenevix-Trench, G., Balleine, R., Phillips, K.A., Benitez, J., Zamora, M.P., Perez, J.I.A., Menendez, P., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Hamann, U., Kabisch, M., Ulmer, H.U., Rudiger, T., Margolin, S., Kristensen, V., Nord, S., Evans, D.G., Abraham, J.E., Earl, H.M., Hiller, L., Dunn, J.A., Bowden, S., Berg, C., Campa, D., Diver, W.R., Gapstur, S.M., Gaudet, M.M., Hankinson, S.E., Hoover, R.N., Husing, A., Kaaks, R., Machiela, M.J., Willett, W., Barrdahl, M., Canzian, F., Chin, S.F., Caldas, C., Hunter, D.J., Lindstrom, S., Garcia-Closas, M., Hall, P., Easton, D.F., Eccles, D.M., Rahman, N., Nevanlinna, H., Pharoah, P.D.P., kConFab Investigators, Tyrer, Jonathan [0000-0003-3724-4757], Wang, Jean [0000-0002-9139-0627], Dennis, Joe [0000-0003-4591-1214], Dunning, Alison [0000-0001-6651-7166], Abraham, Jean [0000-0003-0688-4807], Earl, Helena [0000-0003-1549-8094], Chin, Suet-Feung [0000-0001-5697-1082], Caldas, Carlos [0000-0003-3547-1489], Easton, Douglas [0000-0003-2444-3247], Pharoah, Paul [0000-0001-8494-732X], and Apollo - University of Cambridge Repository
Subjects: Genetic Markers, Genotype, Receptors, Estrogen, Humans, Breast Neoplasms, Female, Genetic Predisposition to Disease, Prognosis, Polymorphism, Single Nucleotide, Survival Analysis, White People
Abstract: BACKGROUND: Survival after a diagnosis of breast cancer varies considerably between patients, and some of this variation may be because of germline genetic variation. We aimed to identify genetic markers associated with breast cancer-specific survival. METHODS: We conducted a large meta-analysis of studies in populations of European ancestry, including 37954 patients with 2900 deaths from breast cancer. Each study had been genotyped for between 200000 and 900000 single nucleotide polymorphisms (SNPs) across the genome; genotypes for nine million common variants were imputed using a common reference panel from the 1000 Genomes Project. We also carried out subtype-specific analyses based on 6881 estrogen receptor (ER)-negative patients (920 events) and 23059 ER-positive patients (1333 events). All statistical tests were two-sided. RESULTS: We identified one new locus (rs2059614 at 11q24.2) associated with survival in ER-negative breast cancer cases (hazard ratio [HR] = 1.95, 95% confidence interval [CI] = 1.55 to 2.47, P = 1.91 x 10(-8)). Genotyping a subset of 2113 case patients, of which 300 were ER negative, provided supporting evidence for the quality of the imputation. The association in this set of case patients was stronger for the observed genotypes than for the imputed genotypes. A second locus (rs148760487 at 2q24.2) was associated at genome-wide statistical significance in initial analyses; the association was similar in ER-positive and ER-negative case patients. Here the results of genotyping suggested that the finding was less robust. CONCLUSIONS: This is currently the largest study investigating genetic variation associated with breast cancer survival. Our results have potential clinical implications, as they confirm that germline genotype can provide prognostic information in addition to standard tumor prognostic factors.
Published: 2015

13. Common germline polymorphisms\ud associated with breast cancer-specific survival

Author: Pirie, A., Guo, Q., Kraft, P., Canisius, S., Eccles, D.M., Rahman, N., Nevanlinna, H., Chen, C., Khan, S., Tyrer, J., Bolla, M.K., Wang, Q., Dennis, J., Michailidou, K., Lush, M., Dunning, A.M., Shah, M., Czene, K., Darabi, H., Eriksson, M., Lambrechts, D., Weltens, C., Leunen, K., van Ongeval, C., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Rudolph, A., Seibold, P., Flesch-Janys, D., Blomqvist, C., Aittomaki, K., Fagerholm, R., Muranen, T.A., Olsen, J.E., Hallberg, E., Vachon, C., Knight, J.A., Glendon, G., Mulligan, A.M., Broeks, A., Cornelissen, S., Haiman, C.A., Henderson, B.E., Schumacher, F., Le Marchand, L., Hopper, J.L., Tsimiklis, H., Apicella, C., Southey, M.C., Cross, S.S., Reed, M.W.R., Giles, G.G., Milne, R.L., McLean, C., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Grip, M., Hooning, M.J., Hollestelle, A., Martens, J.W.M., van den Ouweland, A.M.W., Marme, F., Schneeweiss, A., Yang, R., Burwinkel, B., Figueroa, J., Chanock, S.J., Lissowska, J., Sawyer, E.J., Tomlinson, I., Kerin, M.J., Miller, N., Brenner, H., Butterbach, K., Holleczek, B., Kataja, V., Kosma, V-M., Hartikainen, J.M., Li, J., Brand, J.S., Humphreys, K., Devilee, P., Tollenaar, R.A.E.M., Seynaeve, C., Radice, P., Peterlongo, P., Manoukian, S., Ficarazzi, F., Beckmann, M.W., Hein, A., Ekici, A.B., Balleine, R., Phillips, K-A., Benitez, J., Zamora, M.P., Perez, J.I.A., Menendez, P., Jakubowska, A., Lubinski, J., Gronwald, J., Durda, K., Hamann, U., Kabisch, M., Ulmer, H.U., Ruediger, T., Margolin, S., Kristensen, V., Nord, S., Evans, D.G., Abraham, J., Earl, H., Poole, C.J., Hiller, L., Dunn, J.A., Bowden, S., Campa, D., Diver, W.R., Gapstur, S.M., Gaudet, M.M., Hankinson, S., Hoover, R.N., Husing, A., Kaaks, R., Machiela, M.J., Willett, W., Barrdahl, M., Canzian, F., Chin, S-F., Caldas, C., Hunter, D.J., Lindstrom, S., Garcia-Closas, M., Couch, F.J., Investigators, kConFab, Chenevix-Trench, G., Mannermaa, A., Andrulis, I.L., Hall, P., Chang-Claude, J., Easton, D.F., Bojesen, S.E., Cox, A., Fasching, P.A., Pharoah, P.D.P., Schmidt, M.K., and Investigators, NBCS
Abstract: Introduction: Previous studies have identified common germline variants nominally associated with breast cancer\ud survival. These associations have not been widely replicated in further studies. The purpose of this study was to\ud evaluate the association of previously reported SNPs with breast cancer-specific survival using data from a pooled\ud analysis of eight breast cancer survival genome-wide association studies (GWAS) from the Breast Cancer Association\ud Consortium.\ud Methods: A literature review was conducted of all previously published associations between common germline\ud variants and three survival outcomes: breast cancer-specific survival, overall survival and disease-free survival.\ud All associations that reached the nominal significance level of P value
Published: 2015

14. Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2

Author: Orr, N., Dudbridge, F., Dryden, N., Maguire, S., Novo, D., Perrakis, E., Johnson, N., Ghoussaini, M., Hopper, J.L., Southey, M.C., Apicella, C., Stone, J., Schmidt, M.K., Broeks, A., Van't Veer, L.J., Hogervorst, F.B., Fasching, P.A., Haeberle, L., Ekici, A.B., Beckmann, M.W., Gibson, L., Aitken, Z., Warren, H., Sawyer, E., Tomlinson, I., Kerin, M.J., Miller, N., Burwinkel, B., Marme, F., Schneeweiss, A., Sohn, C., Guenel, P., Truong, T., Cordina-Duverger, E., Sanchez, M., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Benitez, J., Zamora, M.P., Perez, J.I.A., Menendez, P., Anton-Culver, H., Neuhausen, S.L., Brenner, H., Dieffenbach, A.K., Arndt, V., Stegmaier, C., Hamann, U., Brauch, H., Justenhoven, C., Bruning, T., Ko, Y.D., Nevanlinna, H., Aittomaki, K., Blomqvist, C., Khan, S., Bogdanova, N., Dork, T., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V.M., Hartikainen, J.M., Chenevix-Trench, G., Beesley, J., Lambrechts, D., Moisse, M., Floris, G., Beuselinck, B., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Radice, P., Peterlongo, P., Peissel, B., Pensotti, V., Couch, F.J., Olson, J.E., Slettedahl, S., Vachon, C., Giles, G.G., Milne, R.L., McLean, C., Haiman, C.A., Henderson, B.E., Schumacher, F., Marchand, L. le, Simard, J., Goldberg, M.S., Labreche, F., Dumont, M., Kristensen, V., Alnaes, G.G., Nord, S., Borresen-Dale, A.L., Zheng, W., Deming-Halverson, S., Shrubsole, M., Long, J.R., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Grip, M., Andrulis, I.L., Knight, J.A., Glendon, G., Tchatchou, S., Devilee, P., Tollenaar, R.A.E.M., Seynaeve, C.M., Asperen, C.J. van, Garcia-Closas, M., Figueroa, J., Chanock, S.J., Lissowska, J., Czene, K., Darabi, H., Eriksson, M., Klevebring, D., Hooning, M.J., Hollestelle, A., Deurzen, C.H.M. van, Kriege, M., Hall, P., Li, J.M., Liu, J.J., Humphreys, K., Cox, A., Cross, S.S., Reed, M.W.R., Pharoah, P.D.P., Dunning, A.M., Shah, M., Perkins, B.J., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Ashworth, A., Swerdlow, A., Jones, M., Schoemaker, M.J., Meindl, A., Schmutzler, R.K., Olswold, C., Slager, S., Toland, A.E., Yannoukakos, D., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Matsuo, K., Ito, H., Iwata, H., Ishiguro, J., Wu, A.H., Tseng, C.C., Berg, D. van den, Stram, D.O., Teo, S.H., Yip, C.H., Kang, P., Ikram, M.K., Shu, X.O., Lu, W., Gao, Y.T., Cai, H., Kang, D., Choi, J.Y., Park, S.K., Noh, D.Y., Hartman, M., Miao, H., Lim, W.Y., Lee, S.C., Sangrajrang, S., Gaborieau, V., Brennan, P., McKay, J., Wu, P.E., Hou, M.F., Yu, J.C., Shen, C.Y., Blot, W., Cai, Q.Y., Signorello, L.B., Luccarini, C., Bayes, C., Ahmed, S., Maranian, M., Healey, C.S., Gonzalez-Neira, A., Pita, G., Alonso, M.R., Alvarez, N., Herrero, D., Tessier, D.C., Vincent, D., Bacot, F., Hunter, D.J., Lindstrom, S., Dennis, J., Michailidou, K., Bolla, M.K., Easton, D.F., Silva, I.D., Fletcher, O., Peto, J., GENICA Network, kConFab Investigators, Australian Ovarian Canc Study Grp, Obstetrics & Gynecology, Medical Oncology, Pathology, Ophthalmology, Cardiothoracic Surgery, and Clinical Genetics
Subjects: Asian Continental Ancestry Group, Adult, Hepatocyte Nuclear Factor 3-alpha, Risk, binding, European Continental Ancestry Group, Kruppel-Like Transcription Factors, estrogen-receptor-alpha, Breast Neoplasms, GATA3 Transcription Factor, Polymorphism, Single Nucleotide, White People, Kruppel-Like Factor 4, Asian People, SDG 3 - Good Health and Well-being, Medizinische Fakultät, common variants, expression, Humans, Genetic Predisposition to Disease, ddc:610, Genetic Association Studies, Aged, Association Studies Articles, Estrogen Receptor alpha, Chromosome Mapping, foxa1, Middle Aged, confer susceptibility, analyses reveal, Enhancer Elements, Genetic, risk locus, Genetic Loci, functional variants, genome-wide association, Female, Chromosomes, Human, Pair 9
Abstract: We recently identified a novel susceptibility variant, rs865686, for estrogen-receptor positive breast cancer at 9q31.2. Here, we report a fine-mapping analysis of the 9q31.2 susceptibility locus using 43 160 cases and 42 600 controls of European ancestry ascertained from 52 studies and a further 5795 cases and 6624 controls of Asian ancestry from nine studies. Single nucleotide polymorphism (SNP) rs676256 was most strongly associated with risk in Europeans (odds ratios [OR] = 0.90 [0.88-0.92]; P-value = 1.58 × 10(-25)). This SNP is one of a cluster of highly correlated variants, including rs865686, that spans ∼14.5 kb. We identified two additional independent association signals demarcated by SNPs rs10816625 (OR = 1.12 [1.08-1.17]; P-value = 7.89 × 10(-09)) and rs13294895 (OR = 1.09 [1.06-1.12]; P-value = 2.97 × 10(-11)). SNP rs10816625, but not rs13294895, was also associated with risk of breast cancer in Asian individuals (OR = 1.12 [1.06-1.18]; P-value = 2.77 × 10(-05)). Functional genomic annotation using data derived from breast cancer cell-line models indicates that these SNPs localise to putative enhancer elements that bind known drivers of hormone-dependent breast cancer, including ER-α, FOXA1 and GATA-3. In vitro analyses indicate that rs10816625 and rs13294895 have allele-specific effects on enhancer activity and suggest chromatin interactions with the KLF4 gene locus. These results demonstrate the power of dense genotyping in large studies to identify independent susceptibility variants. Analysis of associations using subjects with different ancestry, combined with bioinformatic and genomic characterisation, can provide strong evidence for the likely causative alleles and their functional basis. ispartof: Human Molecular Genetics vol:24 issue:10 pages:2966-84 ispartof: location:England status: published
Published: 2015

15. Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

Author: Guo, Y. (Yan), Warren Andersen, S. (Shaneda), Shu, X.-O. (Xiao-Ou), Michailidou, K. (Kyriaki), Bolla, M.K. (Manjeet K.), Wang, Q. (Qing), García-Closas, M. (Montserrat), Milne, R.L. (Roger), Schmidt, M.K. (Marjanka), Chang-Claude, J. (Jenny), Dunning, A.M. (Alison), Bojesen, S.E. (Stig), Ahsan, H. (Habibul), Aittomäki, K. (Kristiina), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Beckmann, M.W. (Matthias), Beeghly-Fadiel, A. (Alicia), Benítez, J. (Javier), Bogdanova, N.V. (Natalia), Bonnani, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brand, J.S. (Judith S.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brüning, T. (Thomas), Burwinkel, B. (Barbara), Casey, G. (Graham), Chenevix-Trench, G. (Georgia), Couch, F.J. (Fergus), Cox, A. (Angela), Cross, S.S. (Simon), Czene, K. (Kamila), Devilee, P. (Peter), Dörk, T. (Thilo), Dumont, M. (Martine), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Flyger, H. (Henrik), Fostira, F. (Florentia), Gammon, M. (Marilie), Giles, G.G. (Graham), Guénel, P. (Pascal), Haiman, C.A. (Christopher A.), Hamann, U. (Ute), Hooning, M.J. (Maartje), Hopper, J.L. (John), Jakubowska, A. (Anna), Jasmine, F. (Farzana), Jenkins, M. (Mark), John, E.M. (Esther), Johnson, N. (Nichola), Jones, M. (Michael), Kabisch, M. (Maria), Kibriya, M.G. (Muhammad), Knight, J.A. (Julia), Koppert, L.B. (Linetta), Kosma, V-M. (Veli-Matti), Kristensen, V. (Vessela), Le Marchand, L. (Loic), Lee, E. (Eunjung), Li, J. (Jingmei), Lindblom, A. (Annika), Luben, R.N. (Robert), Lubinski, J. (Jan), Malone, K. (Kathi), Mannermaa, A. (Arto), Margolin, S. (Sara), Marme, F. (Federick), McLean, C.A. (Catriona Ann), Meijers-Heijboer, E.J. (Hanne), Meindl, A. (Alfons), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Neven, P. (Patrick), Olson, J.E. (Janet), Perez, J.I.A. (Jose Ignacio Arias), Perkins, B. (Barbara), Peterlongo, P. (Paolo), Phillips, K.-A. (Kelly-Anne), Pykäs, K. (Katri), Rudolph, A. (Anja), Santella, R. (Regina), Sawyer, E.J. (Elinor), Schmutzler, R.K. (Rita), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Shrubsole, M. (Martha), Southey, M.C. (Melissa), Swerdlow, A.J. (Anthony ), Toland, A.E. (Amanda), Tomlinson, I.P. (Ian), Torres, D. (Diana), Truong, T. (Thérèse), Ursin, G. (Giske), Luijt, R.B. (Rob) van der, Verhoef, S., Whittemore, A.S. (Alice S.), Winqvist, R. (Robert), Zhao, H. (Hui), Zhao, S. (Shilin), Hall, P. (Per), Simard, J. (Jacques), Kraft, P. (Peter), Pharoah, P.D.P. (Paul), Hunter, D. (David), Easton, D.F. (Douglas F.), Zheng, W. (Wei), Guo, Y. (Yan), Warren Andersen, S. (Shaneda), Shu, X.-O. (Xiao-Ou), Michailidou, K. (Kyriaki), Bolla, M.K. (Manjeet K.), Wang, Q. (Qing), García-Closas, M. (Montserrat), Milne, R.L. (Roger), Schmidt, M.K. (Marjanka), Chang-Claude, J. (Jenny), Dunning, A.M. (Alison), Bojesen, S.E. (Stig), Ahsan, H. (Habibul), Aittomäki, K. (Kristiina), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Beckmann, M.W. (Matthias), Beeghly-Fadiel, A. (Alicia), Benítez, J. (Javier), Bogdanova, N.V. (Natalia), Bonnani, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brand, J.S. (Judith S.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brüning, T. (Thomas), Burwinkel, B. (Barbara), Casey, G. (Graham), Chenevix-Trench, G. (Georgia), Couch, F.J. (Fergus), Cox, A. (Angela), Cross, S.S. (Simon), Czene, K. (Kamila), Devilee, P. (Peter), Dörk, T. (Thilo), Dumont, M. (Martine), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Flyger, H. (Henrik), Fostira, F. (Florentia), Gammon, M. (Marilie), Giles, G.G. (Graham), Guénel, P. (Pascal), Haiman, C.A. (Christopher A.), Hamann, U. (Ute), Hooning, M.J. (Maartje), Hopper, J.L. (John), Jakubowska, A. (Anna), Jasmine, F. (Farzana), Jenkins, M. (Mark), John, E.M. (Esther), Johnson, N. (Nichola), Jones, M. (Michael), Kabisch, M. (Maria), Kibriya, M.G. (Muhammad), Knight, J.A. (Julia), Koppert, L.B. (Linetta), Kosma, V-M. (Veli-Matti), Kristensen, V. (Vessela), Le Marchand, L. (Loic), Lee, E. (Eunjung), Li, J. (Jingmei), Lindblom, A. (Annika), Luben, R.N. (Robert), Lubinski, J. (Jan), Malone, K. (Kathi), Mannermaa, A. (Arto), Margolin, S. (Sara), Marme, F. (Federick), McLean, C.A. (Catriona Ann), Meijers-Heijboer, E.J. (Hanne), Meindl, A. (Alfons), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Neven, P. (Patrick), Olson, J.E. (Janet), Perez, J.I.A. (Jose Ignacio Arias), Perkins, B. (Barbara), Peterlongo, P. (Paolo), Phillips, K.-A. (Kelly-Anne), Pykäs, K. (Katri), Rudolph, A. (Anja), Santella, R. (Regina), Sawyer, E.J. (Elinor), Schmutzler, R.K. (Rita), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Shrubsole, M. (Martha), Southey, M.C. (Melissa), Swerdlow, A.J. (Anthony ), Toland, A.E. (Amanda), Tomlinson, I.P. (Ian), Torres, D. (Diana), Truong, T. (Thérèse), Ursin, G. (Giske), Luijt, R.B. (Rob) van der, Verhoef, S., Whittemore, A.S. (Alice S.), Winqvist, R. (Robert), Zhao, H. (Hui), Zhao, S. (Shilin), Hall, P. (Per), Simard, J. (Jacques), Kraft, P. (Peter), Pharoah, P.D.P. (Paul), Hunter, D. (David), Easton, D.F. (Douglas F.), and Zheng, W. (Wei)
Published: 2016
Full Text: View/download PDF

16. Genetic Predisposition to In Situ and Invasive Lobular\ud Carcinoma of the Breast

Author: Sawyer, E., Roylance, R., Petridis, C., Brook, M.N., Nowinski, S., Papouli, E., Fletcher, O., Pinder, S., Hanby, A., Kohut, K., Gorman, P., Caneppele, M., Peto, J., Silva, I.D.S., Johnson, N., Swann, R., Dwek, M., Perkins, K-A., Gillett, C., Houlston, R., Ross, G., De Ieso, P., Southey, M.C., Hopper, J.L., Provenzano, E., Apicella, C., Wesseling, J., Cornelissen, S., Keeman, R., Fasching, P.A., Jud, S.M., Ekici, A.B., Beckmann, M.W., Kerin, M.J., Marme, F., Schneeweiss, A., Sohn, C., Burwinkel, B., Guenel, P., Truong, T., Laurent-Puig, P., Kerbrat, P., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Milne, R.L., Perez, J.I.A., Menendez, P., Benitez, J., Brenner, H., Dieffenbach, A.K., Arndt, V., Stegmaier, C., Meindl, A., Lichtner, P., Schmutzler, R.K., Lochmann, M., Brauch, H., Fischer, H-P., Ko, Y-D., Nevanlinna, H., Muranen, T.A., Aittomaki, K., Blomqvist, C., Bogdanova, N.V., Dork, T., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V-M., Hartikainen, J.M., Chenevix-Trench, G., Lambrechts, D., Weltens, C., Van Limbergen, E., Hatse, S., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Radice, P., Peterlongo, P., Bonanni, B., Volorio, S., Giles, G.G., Severi, G., Baglietto, L., Mclean, C.A., Haiman, C.A., Henderson, B.E., Schumacher, F., Le Marchand, L., Simard, J., Goldberg, M.S., Labreche, F., Dumont, M., Kristensen, V., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Kauppila, S., Andrulis, I.L., Knight, J.A., Glendon, G., Mulligan, A.M., Devillee, P., Tollenaar, R.A.E.M., Seynaeve, C.M., Kriege, M., Figueroa, J., Chanock, S.J., Sherman, M.E., Hooning, M.J., Hollestelle, A., van den Ouweland, A.M.W., van Deurzen, C.H.M., Li, J., Czene, K., Humphreys, K., Cox, A., Cross, S.S., Reed, M.W.R., Shah, M., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Swerdlow, A., Ashworth, A., Orr, N., Schoemaker, M., Couch, F.J., Hallberg, E., Gonzalez-Neira, A., Pita, G., Alonso, M.R., Tessier, D.C., Vincent, D., Bacot, F., Bolla, M.K., Wang, Q., Dennis, J., Michailidou, K., Dunning, A.M., Hall, P., Easton, D., Pharoah, P., Schmidt, M.K., Tomlinson, I., Garcia-Closas, M., Network, GENICA, and Investigators, K
Subjects: body regions, skin and connective tissue diseases
Abstract: Invasive lobular breast cancer (ILC) accounts for 10–15% of all invasive breast carcinomas. It is generally ER positive (ER+) and\ud often associated with lobular carcinoma in situ (LCIS). Genome-wide association studies have identified more than 70 common\ud polymorphisms that predispose to breast cancer, but these studies included predominantly ductal (IDC) carcinomas. To\ud identify novel common polymorphisms that predispose to ILC and LCIS, we pooled data from 6,023 cases (5,622 ILC, 401 pure\ud LCIS) and 34,271 controls from 36 studies genotyped using the iCOGS chip. Six novel SNPs most strongly associated with ILC/\ud LCIS in the pooled analysis were genotyped in a further 516 lobular cases (482 ILC, 36 LCIS) and 1,467 controls. These analyses\ud identified a lobular-specific SNP at 7q34 (rs11977670, OR (95%CI) for ILC = 1.13 (1.09–1.18), P = 6.0610210; P-het for ILC vs IDC\ud ER+ tumors = 1.861024\ud ). Of the 75 known breast cancer polymorphisms that were genotyped, 56 were associated with ILC and\ud 15 with LCIS at P,0.05. Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/FGFR2, Phet\ud = 0.04 and rs889312/5q11/MAP3K1, P-het = 0.03); and two showed stronger associations for LCIS than ILC (rs6678914/1q32/\ud LGR6, P-het = 0.001 and rs1752911/6q14, P-het = 0.04). In addition, seven of the 75 known loci showed significant differences\ud between ER+ tumors with IDC and ILC histology, three of these showing stronger associations for ILC (rs11249433/1p11,\ud rs2981579/10q26/FGFR2 and rs10995190/10q21/ZNF365) and four associated only with IDC (5p12/rs10941679; rs2588809/\ud 14q24/RAD51L1, rs6472903/8q21 and rs1550623/2q31/CDCA7). In conclusion, we have identified one novel lobular breast\ud cancer specific predisposition polymorphism at 7q34, and shown for the first time that common breast cancer polymorphisms\ud predispose to LCIS. We have shown that many of the ER+ breast cancer predisposition loci also predispose to ILC, although\ud there is some heterogeneity between ER+ lobular and ER+ IDC tumors. These data provide evidence for overlapping, but\ud distinct etiological pathways within ER+ breast cancer between morphological subtypes.
Published: 2014

17. MicroRNA related polymorphisms and breast cancer risk

Author: Khan, S., Greco, D., Michailidou, K., Milne, R.L., Muranen, T.A., Heikkinen, T., Aaltonen, K., Dennis, J., Bolla, M.K., Liu, J., Hall, P., Irwanto, A., Humphreys, K., Li, J., Czene, K., Chang-Claude, J., Hein, R., Rudolph, A., Seibold, P., Flesch-Janys, D., Fletcher, O., Peto, J., Silva, I.D., Johnson, N., Gibson, L., Aitken, Z., Hopper, J.L., Tsimiklis, H., Bui, M., Makalic, E., Schmidt, D.F., Southey, M.C., Apicella, C., Stone, J., Waisfisz, Q., Meijers-Heijboer, H., Adank, M.A., Luijt, R.B. van der, Meindl, A., Schmutzler, R.K., Muller-Myhsok, B., Lichtner, P., Turnbull, C., Rahman, N., Chanock, S.J., Hunter, D.J., Cox, A., Cross, S.S., Reed, M.W.R., Schmidt, M.K., Broeks, A., Van't Veer, L.J., Hogervorst, F.B., Fasching, P.A., Schrauder, M.G., Ekici, A.B., Beckmann, M.W., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Benitez, J., Zamora, P.M., Perez, J.I.A., Haiman, C.A., Henderson, B.E., Schumacher, F., Marchand, L. le, Pharoah, P.D.P., Dunning, A.M., Shah, M., Luben, R., Brown, J., Couch, F.J., Wang, X., Vachon, C., Olson, J.E., Lambrechts, D., Moisse, M., Paridaens, R., Christiaens, M.R., Guenel, P., Truong, T., Laurent-Puig, P., Mulot, C., Marme, F., Burwinkel, B., Schneeweiss, A., Sohn, C., Sawyer, E.J., Tomlinson, I., Kerin, M.J., Miller, N., Andrulis, I.L., Knight, J.A., Tchatchou, S., Mulligan, A.M., Dork, T., Bogdanova, N.V., Antonenkova, N.N., Anton-Culver, H., Darabi, H., Eriksson, M., Garcia-Closas, M., Figueroa, J., Lissowska, J., Brinton, L., Devilee, P., Tollenaar, R.A.E.M., Seynaeve, C., Asperen, C.J. van, Kristensen, V.N., Slager, S., Toland, A.E., Ambrosone, C.B., Yannoukakos, D., Lindblom, A., Margolin, S., Radice, P., Peterlongo, P., Barile, M., Mariani, P., Hooning, M.J., Martens, J.W.M., Collee, J.M., Jager, A., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Giles, G.G., McLean, C., Brauch, H., Bruning, T., Ko, Y.D., Brenner, H., Dieffenbach, A.K., Arndt, V., Stegmaier, C., Swerdlow, A., Ashworth, A., Orr, N., Jones, M., Simard, J., Goldberg, M.S., Labreche, F., Dumont, M., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Grip, M., Kataja, V., Kosma, V.M., Hartikainen, J.M., Mannermaa, A., Hamann, U., Chenevix-Trench, G., Blomqvist, C., Aittomaki, K., Easton, D.F., Nevanlinna, H., KConFab Investigators, Australian Ovarian Canc Study Grp, GENICA Network, Department of Obstetrics and Gynecology, Clinicum, Department of Oncology, Haartman Institute (-2014), Department of Medical and Clinical Genetics, HUS Gynecology and Obstetrics, Human genetics, CCA - Oncogenesis, Obstetrics & Gynecology, Medical Oncology, Erasmus MC other, and Clinical Genetics
Subjects: Heredity, IDENTIFIES 3, lcsh:Medicine, Estrogen receptor, Genome-wide association study, Bioinformatics, 3123 Gynaecology and paediatrics, HUMAN GENES, lcsh:Science, 3' Untranslated Regions, Multidisciplinary, Research Support, Non-U.S. Gov't, Chromosome Mapping, SINGLE-NUCLEOTIDE POLYMORPHISMS, 3. Good health, Receptors, Estrogen, Female, CASP8 GENE, Research Article, EXPRESSION, Genotype, SUSCEPTIBILITY LOCI, education, 3122 Cancers, MiRNA binding, Single-nucleotide polymorphism, Breast Neoplasms, Biology, Genetic Predisposition, Polymorphism, Single Nucleotide, BINDING-SITES, Breast cancer, REDUCED RISK, Research Support, N.I.H., Extramural, SDG 3 - Good Health and Well-being, microRNA, Genetic predisposition, medicine, Journal Article, Genetics, Cancer Genetics, Humans, GENOME-WIDE ASSOCIATION, Drosha, Genetic Association Studies, Binding Sites, Complex Traits, lcsh:R, Biology and Life Sciences, Computational Biology, Human Genetics, medicine.disease, Research Support, N.I.H., Intramural, COMMON VARIANT, MicroRNAs, Case-Control Studies, Genetics of Disease, lcsh:Q, Research Support, U.S. Gov't, Non-P.H.S, Genome-Wide Association Study
Abstract: Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect the miRNA dependent gene expression regulation, which has been implicated in various cancers, including breast cancer, and may alter individual susceptibility to cancer. We investigated associations between miRNA related SNPs and breast cancer risk. First we evaluated 2,196 SNPs in a case-control study combining nine genome wide association studies (GWAS). Second, we further investigated 42 SNPs with suggestive evidence for association using 41,785 cases and 41,880 controls from 41 studies included in the Breast Cancer Association Consortium (BCAC). Combining the GWAS and BCAC data within a meta-analysis, we estimated main effects on breast cancer risk as well as risks for estrogen receptor (ER) and age defined subgroups. Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95 confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95 CI: 0.95-0.99), rs10719 (OR 0.97; 95 Cl: 0.94-0.99), rs4687554 (OR 0.97; 95 CI: 0.95-0.99, and rs3134615 (OR 1.03; 95 CI: 1.01 -1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. DROSHA belongs to miRNA machinery genes and has a central role in initial miRNA processing. The remaining genes are involved in different molecular functions, including apoptosis and gene expression regulation. Further studies are warranted to elucidate whether the miRNA binding site SNPs are the causative variants for the observed risk effects. This is an open-access article free of all copyright.
Published: 2014

18. Common germline polymorphisms associated with breast cancer-specific survival

Author: Pirie, A. (Ailith), Guo, Q. (Qi), Kraft, P. (Peter), Canisius, S. (Sander), Eccles, D. (Diana), Rahman, N. (Nazneen), Nevanlinna, H. (Heli), Chen, C. (Constance), Khan, S. (Sofia), Tyrer, J.P. (Jonathan), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Lush, M. (Michael), Dunning, A.M. (Alison), Shah, M. (Mitul), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mats), Lambrechts, D. (Diether), Weltens, C. (Caroline), Leunen, K., van Ongeval, C. (Chantal), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Blomqvist, C. (Carl), Aittomäki, K. (Kristiina), Fagerholm, R. (Rainer), Muranen, T.A. (Taru), Olsen, J.E. (Janet E.), Hallberg, B. (Boubou), Vachon, C. (Celine), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Broeks, A. (Annegien), Cornelissen, S. (Sten), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F. (Frederick), Le Marchand, L. (Loic), Hopper, J.L. (John), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Southey, M.C. (Melissa), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John), Ouweland, A.M.W. (Ans) van den, Marme, F. (Federick), Schneeweiss, A. (Andreas), Yang, R. (Rongxi), Burwinkel, B. (Barbara), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Brenner, H. (Hermann), Butterbach, K. (Katja), Holleczek, B. (B.), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Li, J. (Jingmei), Brand, J.S. (Judith S.), Humphreys, M.K. (Manjeet), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Ficarazzi, F. (Filomena), Beckmann, M.W. (Matthias), Hein, R. (Rebecca), Ekici, A.B. (Arif), Balleine, R. (Rosemary), Phillips, K.-A. (Kelly-Anne), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), Jakubowska, A. (Anna), Lubinski, J. (Jan), Gronwald, J. (Jacek), Durda, K. (Katarzyna), Hamann, U. (Ute), Kabisch, M. (Maria), Ulmer, H.U. (Hans), Rud̈iger, T. (Thomas), Margolin, S. (Sara), Kristensen, V. (Vessela), Nord, S. (Siljie), Evans, D.G. (Gareth), Abraham, J. (Jean), Earl, H. (Helena), Poole, C.J. (Christopher J.), Hiller, L. (Louise), Dunn, J.A. (J.), Bowden, S. (Sarah), Yang, R. (Rose), Campa, D. (Daniele), Diver, W.R. (Ryan), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia), Hankinson, S.E. (Susan), Hoover, R.N. (Robert), Hüsing, A. (Anika), Kaaks, R. (Rudolf), Machiela, M.J. (Mitchell J.), Willett, W.C. (Walter C.), Barrdahl, M. (Myrto), Canzian, F. (Federico), Chin, S.-F. (Suet-Feung), Caldas, C. (Carlos), Hunter, D. (David), Lindstrom, S. (Stephen), García-Closas, M. (Montserrat), Couch, F.J. (Fergus), Chenevix-Trench, G. (Georgia), Mannermaa, A. (Arto), Andrulis, I.L. (Irene), Hall, P. (Per), Chang-Claude, J. (Jenny), Easton, D.F. (Douglas), Bojesen, S.E. (Stig), Cox, A. (Angela), Fasching, P.A. (Peter), Pharoah, P.D.P. (Paul), Schmidt, M.K. (Marjanka), Pirie, A. (Ailith), Guo, Q. (Qi), Kraft, P. (Peter), Canisius, S. (Sander), Eccles, D. (Diana), Rahman, N. (Nazneen), Nevanlinna, H. (Heli), Chen, C. (Constance), Khan, S. (Sofia), Tyrer, J.P. (Jonathan), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Lush, M. (Michael), Dunning, A.M. (Alison), Shah, M. (Mitul), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mats), Lambrechts, D. (Diether), Weltens, C. (Caroline), Leunen, K., van Ongeval, C. (Chantal), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Blomqvist, C. (Carl), Aittomäki, K. (Kristiina), Fagerholm, R. (Rainer), Muranen, T.A. (Taru), Olsen, J.E. (Janet E.), Hallberg, B. (Boubou), Vachon, C. (Celine), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Broeks, A. (Annegien), Cornelissen, S. (Sten), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F. (Frederick), Le Marchand, L. (Loic), Hopper, J.L. (John), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Southey, M.C. (Melissa), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John), Ouweland, A.M.W. (Ans) van den, Marme, F. (Federick), Schneeweiss, A. (Andreas), Yang, R. (Rongxi), Burwinkel, B. (Barbara), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Brenner, H. (Hermann), Butterbach, K. (Katja), Holleczek, B. (B.), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Li, J. (Jingmei), Brand, J.S. (Judith S.), Humphreys, M.K. (Manjeet), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Ficarazzi, F. (Filomena), Beckmann, M.W. (Matthias), Hein, R. (Rebecca), Ekici, A.B. (Arif), Balleine, R. (Rosemary), Phillips, K.-A. (Kelly-Anne), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), Jakubowska, A. (Anna), Lubinski, J. (Jan), Gronwald, J. (Jacek), Durda, K. (Katarzyna), Hamann, U. (Ute), Kabisch, M. (Maria), Ulmer, H.U. (Hans), Rud̈iger, T. (Thomas), Margolin, S. (Sara), Kristensen, V. (Vessela), Nord, S. (Siljie), Evans, D.G. (Gareth), Abraham, J. (Jean), Earl, H. (Helena), Poole, C.J. (Christopher J.), Hiller, L. (Louise), Dunn, J.A. (J.), Bowden, S. (Sarah), Yang, R. (Rose), Campa, D. (Daniele), Diver, W.R. (Ryan), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia), Hankinson, S.E. (Susan), Hoover, R.N. (Robert), Hüsing, A. (Anika), Kaaks, R. (Rudolf), Machiela, M.J. (Mitchell J.), Willett, W.C. (Walter C.), Barrdahl, M. (Myrto), Canzian, F. (Federico), Chin, S.-F. (Suet-Feung), Caldas, C. (Carlos), Hunter, D. (David), Lindstrom, S. (Stephen), García-Closas, M. (Montserrat), Couch, F.J. (Fergus), Chenevix-Trench, G. (Georgia), Mannermaa, A. (Arto), Andrulis, I.L. (Irene), Hall, P. (Per), Chang-Claude, J. (Jenny), Easton, D.F. (Douglas), Bojesen, S.E. (Stig), Cox, A. (Angela), Fasching, P.A. (Peter), Pharoah, P.D.P. (Paul), and Schmidt, M.K. (Marjanka)
Abstract: Introduction: Previous studies have identified common germline variants nominally associated with breast cancer survival. These associations have not been widely replicated in further studies. The purpose of this study was to evaluate the association of previously reported SNPs with breast cancer-specific survival using data from a pooled analysis of eight breast cancer survival genome-wide association studies (GWAS) from the Breast Cancer Association Consortium. Methods: A literature review was conducted of all previously published associations between common germline variants and three survival outcomes: breast cancer-specific survival, overall survival and disease-free survival. All associations that reached the nominal significance level of P value <0.05 were included. Single nucleotide polymorphisms that had been previously reported as nominally associated with at least one survival outcome were evaluated in the pooled analysis of over 37,000 breast cancer cases for association with breast cancer-specific survival. Previous associations were evaluated using a one-sided test based on the reported direction of effect. Results: Fifty-six variants from 45 previous publications were evaluated in the meta-analysis. Fifty-four of these were evaluated in the full set of 37,954 breast cancer cases with 2,900 events and the two additional variants were evaluated in a reduced sample size of 30,000 samples in order to ensure independence from the previously published studies. Five variants reached nominal significance (P <0.05) in the pooled GWAS data compared to 2.8 expected under the null hypothesis. Seven additional variants were associated (P <0.05) with ER-positive disease. Conclusions: Although no variants reached genome-wide significance (P <5 x 10-8), these results suggest that there is some evidence of association between candidate common germline variants an
Published: 2015
Full Text: View/download PDF

19. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Author: Michailidou, K. (Kyriaki), Beesley, J. (Jonathan), Lindstrom, S. (Stephen), Canisius, S. (Sander), Dennis, J. (Joe), Lush, M. (Michael), Maranian, M. (Melanie), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Shah, M. (Mitul), Perkins, B. (Barbara), Czene, K. (Kamila), Eriksson, M. (Mikael), Darabi, H. (Hatef), Brand, J.S. (Judith S.), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Nielsen, S.F. (Sune), Rahman, N. (Nazneen), Turnbull, C. (Clare), Fletcher, O. (Olivia), Peto, J. (Julian), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Eilber, U. (Ursula), Behrens, T.W. (Timothy), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Khan, S. (Sofia), Aaltonen, K. (Kirsimari), Ahsan, H. (Habibul), Kibriya, M.G. (Muhammad), Whittemore, A.S. (Alice S.), John, E.M. (Esther M.), Malone, K.E. (Kathleen E.), Gammon, M.D. (Marilie), Santella, R.M. (Regina M.), Ursin, G. (Giske), Makalic, E. (Enes), Schmidt, D.F. (Daniel), Casey, G. (Graham), Hunter, D.J. (David J.), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia), Diver, W.R. (Ryan), Haiman, C.A. (Christopher A.), Schumacher, F.R. (Fredrick), Henderson, B.E. (Brian), Le Marchand, L. (Loic), Berg, C.D. (Christine), Chanock, S.J. (Stephen), Figueroa, J.D. (Jonine), Hoover, R.N. (Robert N.), Lambrechts, D. (Diether), Neven, P. (Patrick), Wildiers, H. (Hans), Limbergen, E. (Erik) van, Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Verhoef, S., Cornelissen, S. (Sten), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Adank, M.A. (Muriel), Luijt, R.B. (Rob) van der, Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Kang, D. (Daehee), Choi, J.-Y. (Ji-Yeob), Park, S.K. (Sue K.), Yoo, K.Y., Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hiroji), Tajima, K. (Kazuo), Guénel, P. (Pascal), Truong, T. (Thérèse), Mulot, C. (Claire), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Surowy, H. (Harald), Sohn, C. (Christof), Wu, A.H. (Anna H), Tseng, C.-C. (Chiu-chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y. (Ying), Cai, H. (Hui), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Lindblom, A. (Annika), Margolin, S. (Sara), Teo, S.H. (Soo Hwang), Yip, C.H. (Cheng Har), Taib, N.A.M. (Nur Aishah Mohd), Tan, G.-H. (Gie-Hooi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John), Collée, J.M. (Margriet), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Cai, Q. (Qiuyin), Hopper, J. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Shen, C-Y. (Chen-Yang), Hsiung, C.-N. (Chia-Ni), Wu, P.-E. (Pei-Ei), Hou, M.-F. (Ming-Feng), Kristensen, V. (Vessela), Nord, S. (Silje), Alnæs, G.G. (Grethe), Giles, G.G. (Graham G.), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Canzian, F. (Federico), Trichopoulos, D. (Dimitrios), Peeters, P.H.M., Lund, E. (Eiliv), Sund, R. (Reijo), Khaw, K.T., Gunter, M.J. (Marc J.), Palli, D. (Domenico), Mortensen, L.M. (Lotte Maxild), Dossus, L. (Laure), Huerta, J.-M. (Jose-Maria), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Sutter, C. (Christian), Yang, R. (Rongxi), Muir, K. (Kenneth), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Hartman, J.M. (Joost), Miao, X., Chia, K.S. (Kee Seng), Chan, C.W. (Ching Wan), Fasching, P.A. (Peter), Hein, R. (Rebecca), Beckmann, M.W. (Matthias), Haeberle, L. (Lothar), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Swerdlow, A.J. (Anthony ), Brinton, L.A. (Louise), García-Closas, M. (Montserrat), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), Shrubsole, M. (Martha), Long, J. (Jirong), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Brauch, H. (Hiltrud), Hamann, U. (Ute), Brüning, T. (Thomas), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Bernard, L. (Loris), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Huzarski, T. (Tomasz), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Kabisch, M. (Maria), Torres, D. (Diana), Neuhausen, S.L. (Susan), Anton-Culver, H. (Hoda), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Healey, S. (Sue), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Simard, J. (Jacques), Pharoah, P.P.D.P. (Paul P.D.P.), Kraft, P. (Peter), Dunning, A.M. (Alison), Chenevix-Trench, G. (Georgia), Hall, P. (Per), Easton, D.F. (Douglas), Michailidou, K. (Kyriaki), Beesley, J. (Jonathan), Lindstrom, S. (Stephen), Canisius, S. (Sander), Dennis, J. (Joe), Lush, M. (Michael), Maranian, M. (Melanie), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Shah, M. (Mitul), Perkins, B. (Barbara), Czene, K. (Kamila), Eriksson, M. (Mikael), Darabi, H. (Hatef), Brand, J.S. (Judith S.), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Nielsen, S.F. (Sune), Rahman, N. (Nazneen), Turnbull, C. (Clare), Fletcher, O. (Olivia), Peto, J. (Julian), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Eilber, U. (Ursula), Behrens, T.W. (Timothy), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Khan, S. (Sofia), Aaltonen, K. (Kirsimari), Ahsan, H. (Habibul), Kibriya, M.G. (Muhammad), Whittemore, A.S. (Alice S.), John, E.M. (Esther M.), Malone, K.E. (Kathleen E.), Gammon, M.D. (Marilie), Santella, R.M. (Regina M.), Ursin, G. (Giske), Makalic, E. (Enes), Schmidt, D.F. (Daniel), Casey, G. (Graham), Hunter, D.J. (David J.), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia), Diver, W.R. (Ryan), Haiman, C.A. (Christopher A.), Schumacher, F.R. (Fredrick), Henderson, B.E. (Brian), Le Marchand, L. (Loic), Berg, C.D. (Christine), Chanock, S.J. (Stephen), Figueroa, J.D. (Jonine), Hoover, R.N. (Robert N.), Lambrechts, D. (Diether), Neven, P. (Patrick), Wildiers, H. (Hans), Limbergen, E. (Erik) van, Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Verhoef, S., Cornelissen, S. (Sten), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Adank, M.A. (Muriel), Luijt, R.B. (Rob) van der, Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Kang, D. (Daehee), Choi, J.-Y. (Ji-Yeob), Park, S.K. (Sue K.), Yoo, K.Y., Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hiroji), Tajima, K. (Kazuo), Guénel, P. (Pascal), Truong, T. (Thérèse), Mulot, C. (Claire), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Surowy, H. (Harald), Sohn, C. (Christof), Wu, A.H. (Anna H), Tseng, C.-C. (Chiu-chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y. (Ying), Cai, H. (Hui), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Lindblom, A. (Annika), Margolin, S. (Sara), Teo, S.H. (Soo Hwang), Yip, C.H. (Cheng Har), Taib, N.A.M. (Nur Aishah Mohd), Tan, G.-H. (Gie-Hooi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John), Collée, J.M. (Margriet), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Cai, Q. (Qiuyin), Hopper, J. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Shen, C-Y. (Chen-Yang), Hsiung, C.-N. (Chia-Ni), Wu, P.-E. (Pei-Ei), Hou, M.-F. (Ming-Feng), Kristensen, V. (Vessela), Nord, S. (Silje), Alnæs, G.G. (Grethe), Giles, G.G. (Graham G.), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Canzian, F. (Federico), Trichopoulos, D. (Dimitrios), Peeters, P.H.M., Lund, E. (Eiliv), Sund, R. (Reijo), Khaw, K.T., Gunter, M.J. (Marc J.), Palli, D. (Domenico), Mortensen, L.M. (Lotte Maxild), Dossus, L. (Laure), Huerta, J.-M. (Jose-Maria), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Sutter, C. (Christian), Yang, R. (Rongxi), Muir, K. (Kenneth), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Hartman, J.M. (Joost), Miao, X., Chia, K.S. (Kee Seng), Chan, C.W. (Ching Wan), Fasching, P.A. (Peter), Hein, R. (Rebecca), Beckmann, M.W. (Matthias), Haeberle, L. (Lothar), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Swerdlow, A.J. (Anthony ), Brinton, L.A. (Louise), García-Closas, M. (Montserrat), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), Shrubsole, M. (Martha), Long, J. (Jirong), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Brauch, H. (Hiltrud), Hamann, U. (Ute), Brüning, T. (Thomas), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Bernard, L. (Loris), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Huzarski, T. (Tomasz), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Kabisch, M. (Maria), Torres, D. (Diana), Neuhausen, S.L. (Susan), Anton-Culver, H. (Hoda), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Healey, S. (Sue), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Simard, J. (Jacques), Pharoah, P.P.D.P. (Paul P.D.P.), Kraft, P. (Peter), Dunning, A.M. (Alison), Chenevix-Trench, G. (Georgia), Hall, P. (Per), and Easton, D.F. (Douglas)
Abstract: Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ∼14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 × 10 â '8. Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.
Published: 2015
Full Text: View/download PDF

20. Large-scale genotyping identifies 41 new loci associated with breast cancer risk

Author: Michailidou, K., Hall, P., Gonzalez-Neira, A., Ghoussaini, M., Dennis, J., Milne, R.L., Schmidt, M.K., Chang-Claude, J., Bojesen, S.E., Bolla, M.K., Wang, Q., Dicks, E., Lee, A., Turnbull, C., Rahman, N., Fletcher, O., Peto, J., Gibson, L., Silva, I.D., Nevanlinna, H., Muranen, T.A., Aittomaki, K., Blomqvist, C., Czene, K., Irwanto, A., Liu, J.J., Waisfisz, Q., Meijers-Heijboer, H., Adank, M., Luijt, R.B. van der, Hein, R., Dahmen, N., Beckman, L., Meindl, A., Schmutzler, R.K., Muller-Myhsok, B., Lichtner, P., Hopper, J.L., Southey, M.C., Makalic, E., Schmidt, D.F., Uitterlinden, A.G., Hofman, A., Hunter, D.J., Chanock, S.J., Vincent, D., Bacot, F., Tessier, D.C., Canisius, S., Wessels, L.F.A., Haiman, C.A., Shah, M., Luben, R., Brown, J., Luccarini, C., Schoof, N., Humphreys, K., Li, J.M., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Couch, F.J., Wang, X.S., Vachon, C., Stevens, K.N., Lambrechts, D., Moisse, M., Paridaens, R., Christiaens, M.R., Rudolph, A., Nickels, S., Flesch-Janys, D., Johnson, N., Aitken, Z., Aaltonen, K., Heikkinen, T., Broeks, A., Van't Veer, L.J., Schoot, C.E. van der, Guenel, P., Truong, T., Laurent-Puig, P., Menegaux, F., Marme, F., Schneeweiss, A., Sohn, C., Burwinke, B., Zamora, M.P., Perez, J.I.A., Pita, G., Alonso, M.R., Cox, A., Brock, I.W., Cross, S.S., Reed, M.W.R., Sawyer, E.J., Tomlinson, I., Kerin, M.J., Miller, N., Henderson, B.E., Schumacher, F., Marchand, L. le, Andrulis, I.L., Knight, J.A., Glendon, G., Mulligan, A.M., Lindblom, A., Margolin, S., Hooning, M.J., Hollestelle, A., Ouweland, A.M.W. van den, Jager, A., Bui, Q.M., Stone, J., Dite, G.S., Apicella, C., Tsimiklis, H., Giles, G.G., Severi, G., Baglietto, L., Fasching, P.A., Haeberle, L., Ekici, A.B., Beckmann, M.W., Brenner, H., Muller, H., Arndt, V., Stegmaier, C., Swerdlown, A., Ashworth, A., Orr, N., Jones, M., Figueroa, J., Lissowska, J., Brinton, L., Goldberg, M.S., Labreche, F., Dumont, M., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Grip, M., Brauch, H., Hamann, U., Bruning, T., Radice, P., Peterlongo, P., Manouldan, S., Bonanni, B., Devilee, P., Tollenaar, R.A.E.M., Seynaeve, C., Asperen, C.J. van, Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Mannermaa, A., Kataja, V., Kosma, V.M., Hartikainen, J.M., Bogdanova, N.V., Antonenkova, N.N., Dork, T., Kristensen, V.N., Anton-Culver, H., Slager, S., Toland, A.E., Edge, S., Fostira, F., Kang, D., Yoo, K.Y., Noh, D.Y., Matsuo, K., Ito, H., Iwata, H., Sueta, A., Wu, A.H., Tseng, C.C., Berg, D. van den, Stram, D.O., Shu, X.O., Lu, W., Gao, Y.T., Cai, H., Teo, S.H., Yip, C.H., Phuah, S.Y., Cornes, B.K., Hartman, M., Miao, H., Lim, W.Y., Sng, J.H., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Shen, C.Y., Hsiung, C.N., Wu, P.E., Ding, S.L., Sangrajrang, S., Gaborieau, V., Brennan, P., Mckay, J., Blot, W.J., Signorello, L.B., Cai, Q.Y., Zheng, W., Deming-Halverson, S., Shrubsole, M., Long, J.R., Simard, J., Garcia-Closas, M., Pharoah, P.D.P., Chenevix-Trench, G., Dunning, A.M., Benitez, J., Easton, D.F., Breast Ovarian Canc Susceptibility, Hereditary Breast Ovarian Canc Res, kConFab Investigators, Australian Ovarian Can Study Grp, GENICA Gene Environm Interaction B, CCA -Cancer Center Amsterdam, ARD - Amsterdam Reproduction and Development, Human Genetics, Landsteiner Laboratory, Clinical Haematology, Clinical Genetics, Internal Medicine, Epidemiology, Medical Oncology, Cardiothoracic Surgery, Human genetics, CCA - Oncogenesis, and ~
Subjects: signaling pathway, Genotyping, Genotype, Single-nucleotide polymorphism, Genome-wide association study, Breast Neoplasms, consortium, Biology, Case-Control Studies, Cooperative Behavior, Female, Gene-Environment Interaction, Genetic Loci, Genome-Wide Association Study, Humans, Meta-Analysis as Topic, Polymorphism, Single Nucleotide, Risk Factors, Genetic Predisposition to Disease, Genetics, Article, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, SDG 3 - Good Health and Well-being, common variants, expression, medicine, Polymorphism, gene, hormone-related protein, 030304 developmental biology, Genetic association, 0303 health sciences, Breast cancer susceptibility, Cancer, Single Nucleotide, medicine.disease, confer susceptibility, susceptibility loci, 3. Good health, 14q24.1 rad51l1, TOX3, 030220 oncology & carcinogenesis, genome-wide association
Abstract: Journal article Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ~9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborative Oncological Gene-environment Study, COGS) and used a custom Illumina iSelect genotyping array, iCOGS, comprising more than 200,000 SNPs. We identified SNPs at 41 new breast cancer susceptibility loci at genome-wide significance (P < 5 × 10!¿8). Further analyses suggest that more than 1,000 additional loci are involved in breast cancer susceptibility. European Community Seventh Framework Programme - grant agreement 223175 (HEALTH-F2-2009-223175) (COGS) peer-reviewed
Published: 2013

21. Assessing interactions between the associations\ud of common genetic susceptibility variants,\ud reproductive history and body mass index with\ud breast cancer risk in the breast cancer association\ud consortium: a combined case-control study

Author: Milne, R.L., Gaudet, M.M., Spurdle, A.B., Fasching, P.A., Couch, F.J., Benitez, J., Perez, J.I.A., Zamora, M.P., Malats, N., Silva, I.D., Gibson, L.J., Fletcher, O., Johnson, N., Anton-Culver, H., Ziogas, A., Figueroa, J., Brinton, L., Sherman, M.E., Lissowska, J., Hopper, J.L., Dite, G.S., Apicella, C., Southey, M.C., Sigurdson, A.J., Linet, M.S., Schonfeld, S.J., Freedman, D.M., Mannermaa, A., Kosma, V.M., Kataja, V., Auvinen, P., Andrulis, I.L., Glendon, G., Knight, J.A., Weerasooriya, N., Cox, A., Reed, M.W.R., Cross, S.S., Dunning, A.M., Ahmed, S., Shah, M., Brauch, H., Ko, Y.D., Bruning, T., Lambrechts, D., Reumers, J., Smeets, A., Wang-Gohrke, S., Hall, P., Czene, K., Liu, J.J., Irwanto, A.K., Chenevix-Trench, G., Holland, H., Giles, G.G., Baglietto, L., Severi, G., Bojensen, S.E., Nordestgaard, B.G., Flyger, H., John, E.M., West, D.W., Whittemore, A.S., Vachon, C., Olson, J.E., Fredericksen, Z., Kosel, M., Hein, R., Vrieling, A., Flesch-Janys, D., Heinz, J., Beckmann, M.W., Heusinger, K., Ekici, A.B., Haeberle, L., Humphreys, M.K., Morrison, J., Easton, D.F., Pharoah, P.D., Garcia-Closas, M., Goode, E.L., Chang-Claude, J., Network, GENICA, Investigators, KConFab, and Group, AOCS
Abstract: Introduction: Several common breast cancer genetic susceptibility variants have recently been identified. We\ud aimed to determine how these variants combine with a subset of other known risk factors to influence breast\ud cancer risk in white women of European ancestry using case-control studies participating in the Breast Cancer\ud Association Consortium.\ud Methods: We evaluated two-way interactions between each of age at menarche, ever having had a live birth,\ud number of live births, age at first birth and body mass index (BMI) and each of 12 single nucleotide\ud polymorphisms (SNPs) (10q26-rs2981582 (FGFR2), 8q24-rs13281615, 11p15-rs3817198 (LSP1), 5q11-rs889312\ud (MAP3K1), 16q12-rs3803662 (TOX3), 2q35-rs13387042, 5p12-rs10941679 (MRPS30), 17q23-rs6504950 (COX11), 3p24-rs4973768 (SLC4A7), CASP8-rs17468277, TGFB1-rs1982073 and ESR1-rs3020314). Interactions were tested for by\ud fitting logistic regression models including per-allele and linear trend main effects for SNPs and risk factors,\ud respectively, and single-parameter interaction terms for linear departure from independent multiplicative effects.\ud Results: These analyses were applied to data for up to 26,349 invasive breast cancer cases and up to 32,208\ud controls from 21 case-control studies. No statistical evidence of interaction was observed beyond that expected by\ud chance. Analyses were repeated using data from 11 population-based studies, and results were very similar.\ud Conclusions: The relative risks for breast cancer associated with the common susceptibility variants identified to\ud date do not appear to vary across women with different reproductive histories or body mass index (BMI). The\ud assumption of multiplicative combined effects for these established genetic and other risk factors in risk prediction\ud models appears justified.
Published: 2010

22. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: A case-control study

Author: Johnson, N. (Nichola), Dudbridge, F. (Frank), Orr, N. (Nick), Gibson, L.J. (Lorna), Jones, M. (Michael), Schoemaker, M. (Minouk), Folkerd, E.J. (Elizabeth J.), Haynes, B.P. (Ben P.), Hopper, J.L. (John), Southey, M.C. (Melissa), Dite, G.S. (Gillian), Apicella, C. (Carmel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Atsma, F. (Femke), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Renner, S.P. (S.), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Guénel, P. (Pascal), Truong, T. (Thérèse), Cordina, E. (Emilie), Menegaux, F. (Florence), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Benítez, J. (Javier), Bernstein, L. (Leslie), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Dur, C.C. (Christina Clarke), Brenner, H. (Hermann), Müller, H. (Heiko), Arndt, V. (Volker), Dieffenbach, A.K. (Aida Karina), Meindl, A. (Alfons), Heil, J. (Joerg), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Ko, Y-D. (Yon-Dschun), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Matsuo, K. (Keitaro), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia V.), Antonenkova, N.N. (Natalia), Lindblom, A. (Annika), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Wu, A.H. (Anna), Van Den Berg, D. (David), Tseng, C.-C. (Chiu-Chen), Lambrechts, D. (Diether), Smeets, D. (Dominiek), Neven, P. (Patrick), Wildiers, H. (Hans), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Pensotti, V. (Valeria), Couch, F.J. (Fergus), Olson, J.E. (Janet E.), Wang, X. (X.), Fredericksen, Z. (Zachary), Pankratz, V.S. (Shane), Giles, G.G. (Graham G.), Severi, G. (Gianluca), Baglietto, L. (Laura), Haiman, C.A. (Christopher A.), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Soucy, P. (Penny), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), Phuah, S.-Y. (Sze-Yee), Cornes, B.K. (Belinda K.), Kristensen, V. (Vessela), Alnæs, G.G. (Grethe Grenaker), Borresen-Dale, A.-L. (Anne-Lise), Zheng, W. (Wei), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Devillee, P. (Peter), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen J.), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Hall, P. (Per), Schoof, N. (Nils), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Oldenburg, R.A. (Rogier), Tilanus-Linthorst, M.M.A. (Madeleine), Liu, J. (Jianjun), Cox, A. (Angela), Brock, I.W. (Ian), Reed, M.W.R. (Malcolm), Cross, S.S. (Simon), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Shah, M. (Mitul), Kang, D. (Daehee), Noh, D-Y. (Dong-Young), Park, S.K. (Sue K.), Choi, J.-Y. (Ji-Yeob), Hartman, J.M. (Joost), Miao, X., Lim, W.Y. (Wei Yen), Tang, A. (Anthony), Hamann, U. (Ute), Försti, A. (Asta), Rud̈iger, T. (Thomas), Ulmer, H.U. (Hans), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Slager, S. (Susan), Toland, A.E. (Amanda), Vachon, C. (Celine), Yannoukakos, D. (Drakoulis), Shen, C.-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Huang, C.-S. (Chiun-Sheng), Hou, M.-F. (Ming-Feng), González-Neira, A. (Anna), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Luccarini, C. (Craig), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Bolla, M.K. (Manjeet K.), Wang, J. (Jinxia), Easton, D.F. (Douglas F.), García-Closas, M. (Montserrat), Dowsett, M. (Mitch), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Dudbridge, F. (Frank), Orr, N. (Nick), Gibson, L.J. (Lorna), Jones, M. (Michael), Schoemaker, M. (Minouk), Folkerd, E.J. (Elizabeth J.), Haynes, B.P. (Ben P.), Hopper, J.L. (John), Southey, M.C. (Melissa), Dite, G.S. (Gillian), Apicella, C. (Carmel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Atsma, F. (Femke), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Renner, S.P. (S.), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Guénel, P. (Pascal), Truong, T. (Thérèse), Cordina, E. (Emilie), Menegaux, F. (Florence), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Benítez, J. (Javier), Bernstein, L. (Leslie), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Dur, C.C. (Christina Clarke), Brenner, H. (Hermann), Müller, H. (Heiko), Arndt, V. (Volker), Dieffenbach, A.K. (Aida Karina), Meindl, A. (Alfons), Heil, J. (Joerg), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Ko, Y-D. (Yon-Dschun), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Matsuo, K. (Keitaro), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia V.), Antonenkova, N.N. (Natalia), Lindblom, A. (Annika), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Wu, A.H. (Anna), Van Den Berg, D. (David), Tseng, C.-C. (Chiu-Chen), Lambrechts, D. (Diether), Smeets, D. (Dominiek), Neven, P. (Patrick), Wildiers, H. (Hans), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Pensotti, V. (Valeria), Couch, F.J. (Fergus), Olson, J.E. (Janet E.), Wang, X. (X.), Fredericksen, Z. (Zachary), Pankratz, V.S. (Shane), Giles, G.G. (Graham G.), Severi, G. (Gianluca), Baglietto, L. (Laura), Haiman, C.A. (Christopher A.), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Soucy, P. (Penny), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), Phuah, S.-Y. (Sze-Yee), Cornes, B.K. (Belinda K.), Kristensen, V. (Vessela), Alnæs, G.G. (Grethe Grenaker), Borresen-Dale, A.-L. (Anne-Lise), Zheng, W. (Wei), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Devillee, P. (Peter), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen J.), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Hall, P. (Per), Schoof, N. (Nils), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Oldenburg, R.A. (Rogier), Tilanus-Linthorst, M.M.A. (Madeleine), Liu, J. (Jianjun), Cox, A. (Angela), Brock, I.W. (Ian), Reed, M.W.R. (Malcolm), Cross, S.S. (Simon), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Shah, M. (Mitul), Kang, D. (Daehee), Noh, D-Y. (Dong-Young), Park, S.K. (Sue K.), Choi, J.-Y. (Ji-Yeob), Hartman, J.M. (Joost), Miao, X., Lim, W.Y. (Wei Yen), Tang, A. (Anthony), Hamann, U. (Ute), Försti, A. (Asta), Rud̈iger, T. (Thomas), Ulmer, H.U. (Hans), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Slager, S. (Susan), Toland, A.E. (Amanda), Vachon, C. (Celine), Yannoukakos, D. (Drakoulis), Shen, C.-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Huang, C.-S. (Chiun-Sheng), Hou, M.-F. (Ming-Feng), González-Neira, A. (Anna), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Luccarini, C. (Craig), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Bolla, M.K. (Manjeet K.), Wang, J. (Jinxia), Easton, D.F. (Douglas F.), García-Closas, M. (Montserrat), Dowsett, M. (Mitch), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, and Fletcher, O. (Olivia)
Abstract: Introduction: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age ≤50 years. Methods: We further investigated the association of rs10235235 with breast cancer risk in a large case control study of 47,346 cases and 47,570 controls from 52 studies participating in the Breast Cancer Association Consortium. Genotyping of rs10235235 was conducted using a custom Illumina Infinium array. Stratified analyses were conducted to determine whether this association was modified by age at diagnosis, ethnicity, age at
Published: 2014
Full Text: View/download PDF

23. Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

Author: Ghoussaini, M. (Maya), Edwards, S.L. (Stacey), Michailidou, K. (Kyriaki), Nord, S. (Silje), Cowper-Sallari, R. (Richard), Desai, K. (Kinjal), Kar, S. (Siddhartha), Hillman, K.M. (Kristine), Kaufmann, S. (Susanne), Glubb, D.M. (Dylan), Beesley, J. (Jonathan), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dicks, E. (Ed), Guo, Q. (Qi), Schmidt, M.K. (Marjanka), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mats), Klevebring, D. (Daniel), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Lambrechts, D. (Diether), Thienpont, B. (Bernard), Neven, P. (Patrick), Wildiers, H. (Hans), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Rutgers, E.J.T. (Emiel), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Gibson, L.J. (Lorna), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Hall, P. (Per), Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Kang, D. (Daehee), Choi, J.-Y. (J.), Park, S.K. (Sue), Noh, D-Y. (Dong-Young), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Yatabe, Y. (Yasushi), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Wu, A.H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y. (Ying), Cai, Q. (Qiuyin), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Lindblom, A. (Annika), Margolin, S. (Sara), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), Lee, D.S.C. (Daphne S.C.), Wong, T.Y. (Tien Yin), Hooning, M.J. (Maartje), Martens, J.W.M. (John W. M.), Collée, J.M. (Margriet), Deurzen, C.H.M. (Carolien) van, Hopper, J.L. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Kapuscinski, M.K. (Miroslav K.), Shen, C-Y. (Chen-Yang), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Chen, S.-T., Alnæs, G.G. (Grethe), Borresen-Dale, A.-L. (Anne-Lise), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Hartman, M. (Mikael), Miao, X., Buhari, S.A.B.S. (Shaik Ahmad Bin Syed), Teo, Y.Y. (Yik Ying), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Koto, Y.-D. (Yon-Dschun), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Volorio, S. (Sara), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Helbig, S. (Sonja), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Hamann, U. (Ute), Torres, D. (Diana), Zheng, W. (Wei), Long, J. (Jirong), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Maranian, M. (Melanie), Healey, S. (Sue), González-Neira, A. (Anna), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Santiago, I. (Ines) de, Carroll, J. (Jason), Caldas, C. (Carlos), Brown, M. (Melissa), Lupien, M. (Mathieu), Kristensen, V. (Vessela), Pharoah, P.D.P. (Paul), Chenevix-Trench, G. (Georgia), French, J.D. (Juliet), Easton, D.F. (Douglas), Dunning, A.M. (Alison), Webb, P. (Penny), De Fazio, A. (Anna), Ghoussaini, M. (Maya), Edwards, S.L. (Stacey), Michailidou, K. (Kyriaki), Nord, S. (Silje), Cowper-Sallari, R. (Richard), Desai, K. (Kinjal), Kar, S. (Siddhartha), Hillman, K.M. (Kristine), Kaufmann, S. (Susanne), Glubb, D.M. (Dylan), Beesley, J. (Jonathan), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dicks, E. (Ed), Guo, Q. (Qi), Schmidt, M.K. (Marjanka), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mats), Klevebring, D. (Daniel), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Lambrechts, D. (Diether), Thienpont, B. (Bernard), Neven, P. (Patrick), Wildiers, H. (Hans), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Rutgers, E.J.T. (Emiel), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Gibson, L.J. (Lorna), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Hall, P. (Per), Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Kang, D. (Daehee), Choi, J.-Y. (J.), Park, S.K. (Sue), Noh, D-Y. (Dong-Young), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Yatabe, Y. (Yasushi), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Wu, A.H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y. (Ying), Cai, Q. (Qiuyin), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Lindblom, A. (Annika), Margolin, S. (Sara), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), Lee, D.S.C. (Daphne S.C.), Wong, T.Y. (Tien Yin), Hooning, M.J. (Maartje), Martens, J.W.M. (John W. M.), Collée, J.M. (Margriet), Deurzen, C.H.M. (Carolien) van, Hopper, J.L. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Kapuscinski, M.K. (Miroslav K.), Shen, C-Y. (Chen-Yang), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Chen, S.-T., Alnæs, G.G. (Grethe), Borresen-Dale, A.-L. (Anne-Lise), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Hartman, M. (Mikael), Miao, X., Buhari, S.A.B.S. (Shaik Ahmad Bin Syed), Teo, Y.Y. (Yik Ying), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Koto, Y.-D. (Yon-Dschun), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Volorio, S. (Sara), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Helbig, S. (Sonja), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Hamann, U. (Ute), Torres, D. (Diana), Zheng, W. (Wei), Long, J. (Jirong), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Maranian, M. (Melanie), Healey, S. (Sue), González-Neira, A. (Anna), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Santiago, I. (Ines) de, Carroll, J. (Jason), Caldas, C. (Carlos), Brown, M. (Melissa), Lupien, M. (Mathieu), Kristensen, V. (Vessela), Pharoah, P.D.P. (Paul), Chenevix-Trench, G. (Georgia), French, J.D. (Juliet), Easton, D.F. (Douglas), Dunning, A.M. (Alison), Webb, P. (Penny), and De Fazio, A. (Anna)
Abstract: GWAS have identified a breast cancer susceptibility locus on 2q35. Here we report the fine mapping of this locus using data from 101,943 subjects from 50 case-control studies. We genotype 276 SNPs using the 'iCOGS' genotyping array and impute genotypes for a further 1,284 using 1000 Genomes Project data. All but two, strongly correlated SNPs (rs4442975 G/T and rs6721996 G/A) are excluded as candidate causal variants at odds against >100:1. The best functional candidate, rs4442975, is associated with oestrogen receptor positive (ER+) disease with an odds ratio (OR) in Europeans of 0.85 (95% confidence interval=0.84-0.87; P=1.7 × 10-43) per t-allele. This SNP flanks a transcriptional enhancer that physically interacts with the promoter of IGFBP5 (encoding insulin-like growth factor-binding protein 5) and displays allele-specific gene expression, FOXA1 binding and chromatin looping. Evidence suggests that the g-allele confers increased breast cancer susceptibility through relative downregulation of IGFBP5, a gene with known roles in breast cell biology.
Published: 2014
Full Text: View/download PDF

24. MicroRNA related polymorphisms and breast cancer risk

Author: Khan, S. (Sofia), Greco, D. (Dario), Michailidou, K. (Kyriaki), Milne, R.L. (Roger), Muranen, T.A. (Taru), Heikkinen, T. (Tuomas), Aaltonen, K. (Kirsimari), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Liu, J. (Jianjun), Hall, P. (Per), Irwanto, A. (Astrid), Humphreys, M.K. (Manjeet), Li, J. (Jingmei), Czene, K. (Kamila), Chang-Claude, J. (Jenny), Hein, R. (Rebecca), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Johnson, N. (Nichola), Gibson, L.J. (Lorna), Aitken, Z. (Zoe), Hopper, J.L. (John), Tsimiklis, H. (Helen), Bui, M. (Minh), Makalic, E. (Enes), Schmidt, D.F. (Daniel), Southey, M.C. (Melissa), Apicella, C. (Carmel), Stone, J. (Jennifer), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Adank, M.A. (Muriel), Luijt, R.B. (Rob) van der, Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Müller-Myhsok, B. (B.), Lichtner, P. (Peter), Turnbull, C. (Clare), Rahman, N. (Nazneen), Chanock, S.J. (Stephen), Hunter, D. (David), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Hogervorst, F.B.L. (Frans), Fasching, P.A. (Peter), Schrauder, A. (André), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Benítez, J. (Javier), Zamora, P.M. (Pilar M.), Perez, J.I.A. (Jose Ignacio Arias), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), March, L.L. (Loic Le), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Couch, F.J. (Fergus), Wang, X. (X.), Vachon, C. (Celine), Olson, J.E. (Janet), Lambrechts, D. (Diether), Moisse, M. (Matthieu), Paridaens, R. (Robert), Christiaens, M.R. (Marie Rose), Guénel, P. (Pascal), Truong, T. (Thérèse), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Marme, F. (Frederick), Burwinkel, B. (Barbara), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Tchatchou, S. (Srine), Mulligan, A.-M. (Anna-Marie), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Anton-Culver, H. (Hoda), Darabi, H. (Hatef), Eriksson, M. (Mats), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Lissowska, J. (Jolanta), Brinton, L.A. (Louise), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Kristensen, V. (Vessela), Slager, S. (Susan), Tol, A.E. (Ama E.), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Lindblom, A. (Annika), Margolin, S. (Sara), Radice, P. (Paolo), Peterlongo, P. (Paolo), Barile, M. (Monica), Mariani, P. (Paolo), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Collée, J.M. (Margriet), Jager, A. (Agnes), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Giles, G.G. (Graham), McLean, C.A. (Catriona Ann), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y.-D. (Yon-Dschun), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Mannermaa, A. (Arto), Hamann, U. (Ute), Chenevix-Trench, G. (Georgia), Blomqvist, C. (Carl), Aittomäki, K. (Kristiina), Easton, D.F. (Douglas), Nevanlinna, H. (Heli), Khan, S. (Sofia), Greco, D. (Dario), Michailidou, K. (Kyriaki), Milne, R.L. (Roger), Muranen, T.A. (Taru), Heikkinen, T. (Tuomas), Aaltonen, K. (Kirsimari), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Liu, J. (Jianjun), Hall, P. (Per), Irwanto, A. (Astrid), Humphreys, M.K. (Manjeet), Li, J. (Jingmei), Czene, K. (Kamila), Chang-Claude, J. (Jenny), Hein, R. (Rebecca), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Johnson, N. (Nichola), Gibson, L.J. (Lorna), Aitken, Z. (Zoe), Hopper, J.L. (John), Tsimiklis, H. (Helen), Bui, M. (Minh), Makalic, E. (Enes), Schmidt, D.F. (Daniel), Southey, M.C. (Melissa), Apicella, C. (Carmel), Stone, J. (Jennifer), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Adank, M.A. (Muriel), Luijt, R.B. (Rob) van der, Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Müller-Myhsok, B. (B.), Lichtner, P. (Peter), Turnbull, C. (Clare), Rahman, N. (Nazneen), Chanock, S.J. (Stephen), Hunter, D. (David), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Hogervorst, F.B.L. (Frans), Fasching, P.A. (Peter), Schrauder, A. (André), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Benítez, J. (Javier), Zamora, P.M. (Pilar M.), Perez, J.I.A. (Jose Ignacio Arias), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), March, L.L. (Loic Le), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Couch, F.J. (Fergus), Wang, X. (X.), Vachon, C. (Celine), Olson, J.E. (Janet), Lambrechts, D. (Diether), Moisse, M. (Matthieu), Paridaens, R. (Robert), Christiaens, M.R. (Marie Rose), Guénel, P. (Pascal), Truong, T. (Thérèse), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Marme, F. (Frederick), Burwinkel, B. (Barbara), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Tchatchou, S. (Srine), Mulligan, A.-M. (Anna-Marie), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Anton-Culver, H. (Hoda), Darabi, H. (Hatef), Eriksson, M. (Mats), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Lissowska, J. (Jolanta), Brinton, L.A. (Louise), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Kristensen, V. (Vessela), Slager, S. (Susan), Tol, A.E. (Ama E.), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Lindblom, A. (Annika), Margolin, S. (Sara), Radice, P. (Paolo), Peterlongo, P. (Paolo), Barile, M. (Monica), Mariani, P. (Paolo), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Collée, J.M. (Margriet), Jager, A. (Agnes), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Giles, G.G. (Graham), McLean, C.A. (Catriona Ann), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y.-D. (Yon-Dschun), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Mannermaa, A. (Arto), Hamann, U. (Ute), Chenevix-Trench, G. (Georgia), Blomqvist, C. (Carl), Aittomäki, K. (Kristiina), Easton, D.F. (Douglas), and Nevanlinna, H. (Heli)
Abstract: Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect the miRNA dependent gene expression regulation, which has been implicated in various cancers, including breast cancer, and may alter individual susceptibility to cancer. We investigated associations between miRNA related SNPs and breast cancer risk. First we evaluated 2,196 SNPs in a case-control study combining n
Published: 2014
Full Text: View/download PDF

25. Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast

Author: Sawyer, E.J. (Elinor), Roylance, R. (Rebecca), Petridis, C. (Christos), Brook, R.H., Nowinski, S. (Salpie), Papouli, E. (Efterpi), Fletcher, O. (Olivia), Pinder, S. (Sarah), Hanby, A. (Andrew), Kohut, K. (Kelly), Gorman, P. (Patricia), Caneppele, M. (Michele), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Johnson, N. (Nichola), Swann, R. (Ruth), Dwek, M. (Miriam), Perkins, K.-A. (Katherine-Anne), Gillett, C. (Cheryl), Houlston, R. (Richard), Ross, G. (Gillian), Ieso, P. (Paolo) de, Southey, M.C. (Melissa), Hopper, J.L. (John), Provenzano, E. (Elena), Apicella, C. (Carmel), Wesseling, J. (Jelle), Cornelissen, S. (Sten), Keeman, J.N., Fasching, P.A. (Peter), Jud, S.M. (Sebastian), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Kerin, M. (Michael), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Truong, T. (Thérèse), Laurent-Puig, P. (Pierre), Kerbrat, P. (Pierre), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Milne, R.L. (Roger), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), Benítez, J. (Javier), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Meindl, A. (Alfons), Lichtner, P. (Peter), Schmutzler, R.K. (Rita), Lochmann, M. (Magdalena), Brauch, H. (Hiltrud), Fischer, H.-P., Ko, Y-D. (Yon-Dschun), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Chenevix-Trench, G. (Georgia), Lambrechts, D. (Diether), Weltens, C. (Caroline), Limbergen, E. (Erik) van, Hatse, S. (Sigrid), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Volorio, S. (Sara), Giles, G.G. (Graham), Severi, G. (Gianluca), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Kristensen, V. (Vessela), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Devillee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Kriege, M. (Mieke), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Sherman, M.E. (Mark), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Ouweland, A.M.W. (Ans) van den, Deurzen, C.H.M. (Carolien) van, Li, J. (Jingmei), Czene, K. (Kamila), Humphreys, M.K. (Manjeet), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Shah, M. (Mitul), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Couch, F.J. (Fergus), Hallberg, B. (Boubou), González-Neira, A. (Anna), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Tessier, Y. (Yann), Vincent, D. (Daniel), Bacot, F. (Francois), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Dunning, A.M. (Alison), Hall, P. (Per), Easton, D.F. (Douglas), Pharoah, P.D.P. (Paul), Schmidt, M.K. (Marjanka), Tomlinson, I.P. (Ian), García-Closas, M. (Montserrat), Sawyer, E.J. (Elinor), Roylance, R. (Rebecca), Petridis, C. (Christos), Brook, R.H., Nowinski, S. (Salpie), Papouli, E. (Efterpi), Fletcher, O. (Olivia), Pinder, S. (Sarah), Hanby, A. (Andrew), Kohut, K. (Kelly), Gorman, P. (Patricia), Caneppele, M. (Michele), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Johnson, N. (Nichola), Swann, R. (Ruth), Dwek, M. (Miriam), Perkins, K.-A. (Katherine-Anne), Gillett, C. (Cheryl), Houlston, R. (Richard), Ross, G. (Gillian), Ieso, P. (Paolo) de, Southey, M.C. (Melissa), Hopper, J.L. (John), Provenzano, E. (Elena), Apicella, C. (Carmel), Wesseling, J. (Jelle), Cornelissen, S. (Sten), Keeman, J.N., Fasching, P.A. (Peter), Jud, S.M. (Sebastian), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Kerin, M. (Michael), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Truong, T. (Thérèse), Laurent-Puig, P. (Pierre), Kerbrat, P. (Pierre), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Milne, R.L. (Roger), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), Benítez, J. (Javier), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Meindl, A. (Alfons), Lichtner, P. (Peter), Schmutzler, R.K. (Rita), Lochmann, M. (Magdalena), Brauch, H. (Hiltrud), Fischer, H.-P., Ko, Y-D. (Yon-Dschun), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Chenevix-Trench, G. (Georgia), Lambrechts, D. (Diether), Weltens, C. (Caroline), Limbergen, E. (Erik) van, Hatse, S. (Sigrid), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Volorio, S. (Sara), Giles, G.G. (Graham), Severi, G. (Gianluca), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Kristensen, V. (Vessela), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Devillee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Kriege, M. (Mieke), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Sherman, M.E. (Mark), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Ouweland, A.M.W. (Ans) van den, Deurzen, C.H.M. (Carolien) van, Li, J. (Jingmei), Czene, K. (Kamila), Humphreys, M.K. (Manjeet), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Shah, M. (Mitul), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Couch, F.J. (Fergus), Hallberg, B. (Boubou), González-Neira, A. (Anna), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Tessier, Y. (Yann), Vincent, D. (Daniel), Bacot, F. (Francois), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Dunning, A.M. (Alison), Hall, P. (Per), Easton, D.F. (Douglas), Pharoah, P.D.P. (Paul), Schmidt, M.K. (Marjanka), Tomlinson, I.P. (Ian), and García-Closas, M. (Montserrat)
Abstract: Invasive lobular breast cancer (ILC) accounts for 10-15% of all invasive breast carcinomas. It is generally ER positive (ER+) and often associated with lobular carcinoma in situ (LCIS). Genome-wide association studies have identified more than 70 common polymorphisms that predispose to breast cancer, but these studies included predominantly ductal (IDC) carcinomas. To identify novel common polymorphisms that predispose to ILC and LCIS, we po
Published: 2014
Full Text: View/download PDF

26. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

Author: Lin, W.-Y. (Wei-Yu), Camp, N.J. (Nicola), Ghoussaini, M. (Maya), Beesley, J. (Jonathan), Michailidou, K. (Kyriaki), Hopper, J. (John), Apicella, C. (Carmel), Southey, M.C. (Melissa), Stone, J. (Jennifer), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Rutgers, E.J.T. (Emiel), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Sawyer, E.J. (Elinor), Cheng, T. (Timothy), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Marmé, F. (Frederik), Surowy, H. (Harald), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Mulot, C. (Claire), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), González-Neira, A. (Anna), Pita, G. (Guillermo), Rosario Alonso, M., Álvarez, N. (Nuria), Herrero, D. (Daniel), Anton-Culver, H. (Hoda), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Meindl, A. (Alfons), Lichtner, P. (Peter), Schmutzler, R.K. (Rita), Müller-Myhsok, B. (B.), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y.-D. (Yon-Dschun), Lin, W.-Y. (Wei-Yu), Camp, N.J. (Nicola), Ghoussaini, M. (Maya), Beesley, J. (Jonathan), Michailidou, K. (Kyriaki), Hopper, J. (John), Apicella, C. (Carmel), Southey, M.C. (Melissa), Stone, J. (Jennifer), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Rutgers, E.J.T. (Emiel), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Sawyer, E.J. (Elinor), Cheng, T. (Timothy), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Marmé, F. (Frederik), Surowy, H. (Harald), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Mulot, C. (Claire), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), González-Neira, A. (Anna), Pita, G. (Guillermo), Rosario Alonso, M., Álvarez, N. (Nuria), Herrero, D. (Daniel), Anton-Culver, H. (Hoda), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Meindl, A. (Alfons), Lichtner, P. (Peter), Schmutzler, R.K. (Rita), Müller-Myhsok, B. (B.), Brauch, H. (Hiltrud), Brüning, T. (Thomas), and Ko, Y.-D. (Yon-Dschun)
Abstract: Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regressionmodels adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further in data from nine genome-wide association studies (GWAS) comprising in total 10 052 case and 12 575 control subjects. The most significant association signal observed in European subjects was for the imputed intronic SNP rs1830298 in ALS2CR12 (telomeric to CASP8), with per allele odds ratio and 95% confidence interval [OR (95% confidence interval, CI)] for the minor allele of 1.05 (1.03-1.07), P = 1 × 10-5. Three additional independent signals from intronic SNPs were identified, in CASP8 (rs36043647), ALS2CR11 (rs59278883) and CFLAR (rs7558475). The association with rs1830298 was replicated in the imputed results from the combined GWAS (P=3 × 10-6), yielding a combined OR (95% CI) of 1.06 (1.04-1.08), P = 1 × 10-9. Analyses of gene expression associations in peripheral blood and normal breast tissue indicate that CASP8might be the target gene, suggesting amechanism involving apoptosis.
Published: 2014
Full Text: View/download PDF

27. 19p13.1 Is a triple-negative-specific breast cancer susceptibility locus

Author: Stevens, K. (Kristen), Fredericksen, Z. (Zachary), Vachon, C. (Celine), Wang, X. (Xing), Margolin, S. (Sara), Lindblom, A. (Annika), Nevanlinna, H. (Heli), Greco, D. (Dario), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Chang-Claude, J. (Jenny), Vrieling, A. (Alina), Flesch-Janys, D. (Dieter), Sinn, H.-P. (Hans-Peter), Wang-Gohrke, S. (Shan), Nickels, S. (Stefan), Brauch, H. (Hiltrud), Ko, Y-D. (Yon-Dschun), Fischer, H.-P., Schmutzler, R.K. (Rita), Meindl, A. (Alfons), Bartram, C.R. (Claus), Schott, S. (Sarah), Engel, C. (Christoph), Godwin, A.K. (Andrew), Weaver, J. (JoEllen), Pathak, S.S., Sharma, P. (Pankaj), Brenner, H. (Hermann), Müller, H. (Heiko), Arndt, V. (Volker), Stegmaier, C. (Christa), Miron, P. (Penelope), Yannoukakos, D. (Drakoulis), Stavropoulou, A. (Alexandra), Fountzilas, G. (George), Gogas, H. (Helen), Swann, R. (Ruth), Dwek, M. (Miriam), Perkins, A. (Annie), Milne, R.L. (Roger), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Bojesen, S.E. (Stig), Nielsen, S.F. (Sune), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Cordina-Duverger, E. (Emilie), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Peto, J. (Julian), Johnson, N. (Nichola), Fletcher, O. (Olivia), Santos Silva, I. (Isabel) dos, Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Hartmann, A. (Arndt), Ekici, A.B. (Arif), Lophatananon, A. (Artitaya), Muir, K.R. (Kenneth), Puttawibul, P. (Puttisak), Wiangnon, S. (Surapon), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Braaf, L.M. (Linde), Rosenberg, E.H. (Efraim), Hopper, J.L. (John), Apicella, C. (Carmel), Park, D.J. (Daniel), Southey, M.C. (Melissa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Nicholas, O. (Orr), Schoemaker, M. (Minouk), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Dur, C.C. (Christina Clarke), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Hsiung, C.-N. (Chia-Ni), Hamann, U. (Ute), Dünnebier, T. (Thomas), Rud̈iger, T. (Thomas), Ulmer, H.U. (Hans), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Hall, P. (Per), Czene, K. (Kamila), Ambrosone, C.B. (Christine), Ademuyiwa, F. (Foluso), Hwang, H. (Helena), Eccles, D. (Diana), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Sherman, M.E. (Mark), Lissowska, J. (Jolanta), Devilee, P. (Peter), Seynaeve, C.M. (Caroline), Tollenaar, R.A.E.M. (Rob), Hooning, M.J. (Maartje), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), John, E.M. (Esther), Miron, A. (Alexander), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Brøresen-Dale, A.-L. (Anne-Lise), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Severi, G. (Gianluca), Kosel, M. (Matthew), Pankratz, V.S. (Shane), Slager, S. (Susan), Olson, J.E. (Janet), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Lambrechts, D. (Diether), Hatse, S. (Sigrid), Dieudonné, A.-S. (Anne-Sophie), Christiaens, M.R. (Marie Rose), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Soini, Y. (Ylermi), Easton, D.F. (Douglas), Couch, F.J. (Fergus), Stevens, K. (Kristen), Fredericksen, Z. (Zachary), Vachon, C. (Celine), Wang, X. (Xing), Margolin, S. (Sara), Lindblom, A. (Annika), Nevanlinna, H. (Heli), Greco, D. (Dario), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Chang-Claude, J. (Jenny), Vrieling, A. (Alina), Flesch-Janys, D. (Dieter), Sinn, H.-P. (Hans-Peter), Wang-Gohrke, S. (Shan), Nickels, S. (Stefan), Brauch, H. (Hiltrud), Ko, Y-D. (Yon-Dschun), Fischer, H.-P., Schmutzler, R.K. (Rita), Meindl, A. (Alfons), Bartram, C.R. (Claus), Schott, S. (Sarah), Engel, C. (Christoph), Godwin, A.K. (Andrew), Weaver, J. (JoEllen), Pathak, S.S., Sharma, P. (Pankaj), Brenner, H. (Hermann), Müller, H. (Heiko), Arndt, V. (Volker), Stegmaier, C. (Christa), Miron, P. (Penelope), Yannoukakos, D. (Drakoulis), Stavropoulou, A. (Alexandra), Fountzilas, G. (George), Gogas, H. (Helen), Swann, R. (Ruth), Dwek, M. (Miriam), Perkins, A. (Annie), Milne, R.L. (Roger), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Bojesen, S.E. (Stig), Nielsen, S.F. (Sune), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Cordina-Duverger, E. (Emilie), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Peto, J. (Julian), Johnson, N. (Nichola), Fletcher, O. (Olivia), Santos Silva, I. (Isabel) dos, Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Hartmann, A. (Arndt), Ekici, A.B. (Arif), Lophatananon, A. (Artitaya), Muir, K.R. (Kenneth), Puttawibul, P. (Puttisak), Wiangnon, S. (Surapon), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Braaf, L.M. (Linde), Rosenberg, E.H. (Efraim), Hopper, J.L. (John), Apicella, C. (Carmel), Park, D.J. (Daniel), Southey, M.C. (Melissa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Nicholas, O. (Orr), Schoemaker, M. (Minouk), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Dur, C.C. (Christina Clarke), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Hsiung, C.-N. (Chia-Ni), Hamann, U. (Ute), Dünnebier, T. (Thomas), Rud̈iger, T. (Thomas), Ulmer, H.U. (Hans), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Hall, P. (Per), Czene, K. (Kamila), Ambrosone, C.B. (Christine), Ademuyiwa, F. (Foluso), Hwang, H. (Helena), Eccles, D. (Diana), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Sherman, M.E. (Mark), Lissowska, J. (Jolanta), Devilee, P. (Peter), Seynaeve, C.M. (Caroline), Tollenaar, R.A.E.M. (Rob), Hooning, M.J. (Maartje), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), John, E.M. (Esther), Miron, A. (Alexander), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Brøresen-Dale, A.-L. (Anne-Lise), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Severi, G. (Gianluca), Kosel, M. (Matthew), Pankratz, V.S. (Shane), Slager, S. (Susan), Olson, J.E. (Janet), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Lambrechts, D. (Diether), Hatse, S. (Sigrid), Dieudonné, A.-S. (Anne-Sophie), Christiaens, M.R. (Marie Rose), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Soini, Y. (Ylermi), Easton, D.F. (Douglas), and Couch, F.J. (Fergus)
Abstract: The 19p13.1 breast cancer susceptibility locus is a modifier of breast cancer risk in BRCA1 mutation carriers and is also associated with the risk of ovarian cancer. Here, we investigated 19p13.1 variation and risk of breast cancer subtypes, defined by estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor-2 (HER2) status, using 48,869 breast cancer cases and 49,787 controls from the Breast Cancer Association Consortium (BCAC). Variants from 19p13.1 were not associated with breast cancer overall or with ER-positive breast cancer but were significantly associated with ER-negative breast cancer risk [rs8170 OR, 1.10; 95% confidence interval (CI), 1.05-1.15; P = 3.49 × 10 -5] and triple-negative (ER-, PR-, and HER2-negative) breast cancer (rs8170: OR, 1.22; 95% CI, 1.13-1.31; P = 2.22 × 10 -7). However, rs8170 was no longer associated with ERnegative breast cancer risk when triple-negative cases were excluded (OR, 0.98; 95% CI, 0.89-1.07; P = 0.62). In addition, a combined analysis of triple-negative cases from BCAC and the Triple Negative Breast Cancer Consortium (TNBCC; N = 3,566) identified a genome-wide significant association between rs8170 and triple-negative breast cancer risk (OR, 1.25; 95% CI, 1.18-1.33; P=3.31×10 -13]. Thus, 19p13.1 is the first triple-negative- specific breast cancer risk locus and the first locus specific to a histologic subtype defined by ER, PR, and HER2 to be identified. These findings provide convincing evidence that genetic susceptibility to breast cancer varies by tumor subtype and that triple-negative tumors and other subtypes likely arise through distinct etiologic pathways.
Published: 2012
Full Text: View/download PDF

28. Comparison of 6q25 breast cancer hits from Asian and European genome wide association studies in the Breast Cancer Association consortium (BCAC)

Author: Hein, R. (Rebecca), Maranian, M. (Melanie), Hopper, J.L. (John), Kapuscinski, M.K. (Miroslaw), Southey, M.C. (Melissa), Park, D.J. (Daniel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Bueno-de-Mesquit, H.B. (Bas), Muir, K.R. (Kenneth), Lophatananon, A. (Artitaya), Rattanamongkongul, S. (Suthee), Puttawibul, P. (Puttisak), Fasching, P.A. (Peter), Hein, A. (Alexander), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Fletcher, O. (Olivia), Johnson, N. (Nichola), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Marmee, F. (Frederick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Cordina-Duverger, E. (Emilie), Menegaux, F. (Florence), Truong, T. (Thérèse), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Perez, J.I.A. (Jose Ignacio Arias), Zamora, M.P. (Pilar), Benítez, J. (Javier), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Clarke, C.A. (Christina), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Stegmaier, C. (Christa), Rahman, N. (Nazneen), Seal, S. (Sheila), Turnbull, C. (Clare), Renwick, A. (Anthony), Meindl, A. (Alfons), Schott, S. (Sarah), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Hamann, U. (Ute), Ko, Y-D. (Yon-Dschun), Wang-Gohrke, S. (Shan), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Zalutsky, I.V. (Iosif), Antonenkova, N.N. (Natalia), Bermisheva, M. (Marina), Prokovieva, D. (Darya), Farahtdinova, A. (Albina), Khusnutdinova, E.K. (Elza), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Lambrechts, D. (Diether), Zhao, H. (Hui), Neven, P. (Patrick), Wildiers, H. (Hans), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Couch, F.J. (Fergus), Olson, J.E. (Janet), Wang, X. (Xianshu), Fredericksen, Z. (Zachary), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Severi, G. (Gianluca), Offit, K. (Kenneth), Robson, M. (Mark), Gaudet, M.M. (Mia), Vijai, J. (Joseph), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Børresen-Dale, A.L. (Anne Lise), John, E.M. (Esther), Miron, A. (Alexander), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Figueroa, J.D. (Jonine), García-Closas, M. (Montserrat), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Seynaeve, C.M. (Caroline), Collée, J.M. (Margriet), Hall, P. (Per), Humpreys, K. (Keith), Czene, K. (Kamila), Liu, J. (Jianjun), Cox, A. (Angela), Brock, I.W. (Ian), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Ahmed, S. (Shahana), Ghoussaini, M. (Maya), Pharoah, P.D.P. (Paul), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Jakubowska, A. (Anna), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Złowocka, E. (Elzbieta), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Hou, M.-F. (Ming-Feng), Orr, N. (Nick), Schoemaker, M. (Minouk), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Trentham-Dietz, A. (Amy), Newcomb, P. (Polly), Titus, L. (Linda), Egan, K.M. (Kathleen), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Humphreys, M.K. (Manjeet), Morrison, J. (Jonathan), Chang-Claude, J. (Jenny), Easton, D.F. (Douglas), Dunning, A.M. (Alison), Hein, R. (Rebecca), Maranian, M. (Melanie), Hopper, J.L. (John), Kapuscinski, M.K. (Miroslaw), Southey, M.C. (Melissa), Park, D.J. (Daniel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Bueno-de-Mesquit, H.B. (Bas), Muir, K.R. (Kenneth), Lophatananon, A. (Artitaya), Rattanamongkongul, S. (Suthee), Puttawibul, P. (Puttisak), Fasching, P.A. (Peter), Hein, A. (Alexander), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Fletcher, O. (Olivia), Johnson, N. (Nichola), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Marmee, F. (Frederick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Cordina-Duverger, E. (Emilie), Menegaux, F. (Florence), Truong, T. (Thérèse), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Perez, J.I.A. (Jose Ignacio Arias), Zamora, M.P. (Pilar), Benítez, J. (Javier), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Clarke, C.A. (Christina), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Stegmaier, C. (Christa), Rahman, N. (Nazneen), Seal, S. (Sheila), Turnbull, C. (Clare), Renwick, A. (Anthony), Meindl, A. (Alfons), Schott, S. (Sarah), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Hamann, U. (Ute), Ko, Y-D. (Yon-Dschun), Wang-Gohrke, S. (Shan), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Zalutsky, I.V. (Iosif), Antonenkova, N.N. (Natalia), Bermisheva, M. (Marina), Prokovieva, D. (Darya), Farahtdinova, A. (Albina), Khusnutdinova, E.K. (Elza), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Lambrechts, D. (Diether), Zhao, H. (Hui), Neven, P. (Patrick), Wildiers, H. (Hans), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Couch, F.J. (Fergus), Olson, J.E. (Janet), Wang, X. (Xianshu), Fredericksen, Z. (Zachary), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Severi, G. (Gianluca), Offit, K. (Kenneth), Robson, M. (Mark), Gaudet, M.M. (Mia), Vijai, J. (Joseph), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Børresen-Dale, A.L. (Anne Lise), John, E.M. (Esther), Miron, A. (Alexander), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Figueroa, J.D. (Jonine), García-Closas, M. (Montserrat), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Seynaeve, C.M. (Caroline), Collée, J.M. (Margriet), Hall, P. (Per), Humpreys, K. (Keith), Czene, K. (Kamila), Liu, J. (Jianjun), Cox, A. (Angela), Brock, I.W. (Ian), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Ahmed, S. (Shahana), Ghoussaini, M. (Maya), Pharoah, P.D.P. (Paul), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Jakubowska, A. (Anna), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Złowocka, E. (Elzbieta), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Hou, M.-F. (Ming-Feng), Orr, N. (Nick), Schoemaker, M. (Minouk), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Trentham-Dietz, A. (Amy), Newcomb, P. (Polly), Titus, L. (Linda), Egan, K.M. (Kathleen), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Humphreys, M.K. (Manjeet), Morrison, J. (Jonathan), Chang-Claude, J. (Jenny), Easton, D.F. (Douglas), and Dunning, A.M. (Alison)
Abstract: The 6q25.1 locus was first identified via a genome-wide association study (GWAS) in Chinese women and marked by single nucleotide polymorphism (SNP) rs2046210, approximately 180 Kb upstream of ESR1. There have been conflicting reports about the association of this locus with breast cancer in Europeans, and a GWAS in Europeans identified a different SNP, tagged here by rs12662670. We examined the associations of both SNPs in up to 61,689 cases and 58,822 controls from forty-four studies collaborating in the Breast Cancer Association Consortium, of which four studies were of Asian and 39 of European descent. Logistic regression was used to estimate odds ratios (OR) and 95% confidence intervals (CI). Case-only analyses were used to compare SNP effects in Estrogen Receptor positive (ER+) versus negative (ER-) tumours. Models including both SNPs were fitted to investigate whether the SNP effec
Published: 2012
Full Text: View/download PDF

29. Confirmation of 5p12 as a susceptibility locus for progesterone-receptor- positive, lower grade breast cancer

Author: Milne, R.L. (Roger), Goode, E.L. (Ellen), García-Closas, M. (Montserrat), Couch, F.J. (Fergus), Severi, G. (Gianluca), Hein, R. (Rebecca), Fredericksen, Z. (Zachary), Malats, N. (Núria), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Benítez, J. (Javier), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Cox, A. (Angela), Brock, I.W. (Ian), Elliot, K.S. (Katherine), Cross, S.S. (Simon), Seal, S. (Sheila), Turnbull, C. (Clare), Renwick, A. (Anthony), Rahman, N. (Nazneen), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Huang, C.-S. (Chiun-Sheng), Hou, M.-F. (Ming-Feng), Nordestgaard, B.G. (Børge), Bojesen, S.E. (Stig), Lanng, C. (Charlotte), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Børrensen-Dale, A.-L. (Anne-Lise), Hopper, J.L. (John), Dite, G.S. (Gillian), Apicella, C. (Carmel), Southey, M.C. (Melissa), Lambrechts, D. (Diether), Yesilyurt, B.T. (Betül), Floris, O.A.M., Leunen, K., Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Chang-Claude, J. (Jenny), Wang-Gohrke, S. (Shan), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Giles, G.G. (Graham), Baglietto, L. (Laura), John, E.M. (Esther), Miron, A. (Alexander), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Figueroa, J.D. (Jonine), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Zalutsky, I.V. (Iosif), Rogov, Y.I. (Yuri), Fasching, P.A. (Peter), Bayer, T. (T.), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Stegmaier, C. (Christa), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Meindl, A. (Alfons), Heil, J. (Joerg), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Thomas, G. (Gilles), Hoover, R.N. (Robert), Fletcher, O. (Olivia), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Tollenaar, R.A.E.M. (Rob), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Pooley, K.A. (Karen), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Hunter, D. (David), Hankinson, S.E. (Susan), Kraft, P. (Peter), Lindstrom, S. (Stephen), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Hamann, U. (Ute), Harth, V. (Volker), Justenhoven, C. (Christina), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Oldenburg, R.A. (Rogier), Tilanus-Linthorst, M.M.A. (Madeleine), Khusnutdinova, E.K. (Elza), Bermisheva, M. (Marina), Prokofieva, D. (Darya), Farahtdinova, A. (Albina), Olson, J.E. (Janet), Wang, X. (Xing), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Chenevix-Trench, G. (Georgia), Easton, D.F. (Douglas), Milne, R.L. (Roger), Goode, E.L. (Ellen), García-Closas, M. (Montserrat), Couch, F.J. (Fergus), Severi, G. (Gianluca), Hein, R. (Rebecca), Fredericksen, Z. (Zachary), Malats, N. (Núria), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Benítez, J. (Javier), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Cox, A. (Angela), Brock, I.W. (Ian), Elliot, K.S. (Katherine), Cross, S.S. (Simon), Seal, S. (Sheila), Turnbull, C. (Clare), Renwick, A. (Anthony), Rahman, N. (Nazneen), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Huang, C.-S. (Chiun-Sheng), Hou, M.-F. (Ming-Feng), Nordestgaard, B.G. (Børge), Bojesen, S.E. (Stig), Lanng, C. (Charlotte), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Børrensen-Dale, A.-L. (Anne-Lise), Hopper, J.L. (John), Dite, G.S. (Gillian), Apicella, C. (Carmel), Southey, M.C. (Melissa), Lambrechts, D. (Diether), Yesilyurt, B.T. (Betül), Floris, O.A.M., Leunen, K., Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Chang-Claude, J. (Jenny), Wang-Gohrke, S. (Shan), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Giles, G.G. (Graham), Baglietto, L. (Laura), John, E.M. (Esther), Miron, A. (Alexander), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Figueroa, J.D. (Jonine), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Zalutsky, I.V. (Iosif), Rogov, Y.I. (Yuri), Fasching, P.A. (Peter), Bayer, T. (T.), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Stegmaier, C. (Christa), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Meindl, A. (Alfons), Heil, J. (Joerg), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Thomas, G. (Gilles), Hoover, R.N. (Robert), Fletcher, O. (Olivia), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Tollenaar, R.A.E.M. (Rob), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Pooley, K.A. (Karen), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Hunter, D. (David), Hankinson, S.E. (Susan), Kraft, P. (Peter), Lindstrom, S. (Stephen), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Hamann, U. (Ute), Harth, V. (Volker), Justenhoven, C. (Christina), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Oldenburg, R.A. (Rogier), Tilanus-Linthorst, M.M.A. (Madeleine), Khusnutdinova, E.K. (Elza), Bermisheva, M. (Marina), Prokofieva, D. (Darya), Farahtdinova, A. (Albina), Olson, J.E. (Janet), Wang, X. (Xing), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Chenevix-Trench, G. (Georgia), and Easton, D.F. (Douglas)
Abstract: Background: The single-nucleotide polymorphism (SNP) 5p12-rs10941679 has been found to be associated with risk of breast cancer, particularly estrogen receptor (ER)-positive disease. We aimed to further explore this association overall, and by tumor histopathology, in the Breast Cancer Association Consortium. Methods: Data were combined from 37 studies, including 40,972 invasive cases, 1,398 cases of ductal carcinoma in situ (DCIS), and 46,334 controls, all of white European ancestry, as well as 3,007 invasive cases and 2,337 controls of Asian ancestry. Associations overall and by tumor invasiveness and histopathology were assessed using logistic regression. Results: For white Europeans, the per-allele OR associated with 5p12-rs10941679 was 1.11 (95% CI = 1.08-1.14, P = 7 × 10 -18) for invasive breast cancer and 1.10 (95% CI = 1.01-1.21, P = 0.03) for DCIS. For Asian women, the estimated OR for invasive disease was similar (OR = 1.07, 95%CI = 0.99-1.15, P = 0.09). Further analyses suggested that the association in white Europeans was largely limited to progesterone receptor (PR)- positive disease (per-allele OR = 1.16, 95% CI = 1.12-1.20, P = 1 × 10 -18 vs. OR = 1.03, 95% CI = 0.99-1.07, P
Published: 2011
Full Text: View/download PDF

30. IMS learning design support for the formalization of collaborative learning patterns.

Author: Leo, D.H., Perez, J.I.A., and Dimitriadis, Y.A.
Published: 2004
Full Text: View/download PDF

31. IMS learning design support for the formalization of collaborative learning patterns

Author: Leo, D.H., primary, Perez, J.I.A., additional, and Dimitriadis, Y.A., additional
Full Text: View/download PDF

Catalog

Books, media, physical & digital resources

See catalog results

Searchworks

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources

Refine your results

31 results on '"Perez, J.I.A."'

1. Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women

2. Breast cancer risk genes - Association analysis in more than 113,000 women.

3. Genome-wide association study of germline variants and breast cancer-specific mortality

4. Genome-wide association study of germline variants and breast cancer-specific mortality.

5. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.

6. Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation (vol 5, 4999, 2014)

7. E-cadherin breast tumor expression, risk factors and survival: Pooled analysis of 5,933 cases from 12 studies in the Breast Cancer Association Consortium

8. Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade

9. Body mass index and breast cancer survival

10. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

11. Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

12. Identification of novel genetic markers of breast cancer survival

13. Common germline polymorphisms\ud associated with breast cancer-specific survival

14. Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2

15. Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

16. Genetic Predisposition to In Situ and Invasive Lobular\ud Carcinoma of the Breast

17. MicroRNA related polymorphisms and breast cancer risk

18. Common germline polymorphisms associated with breast cancer-specific survival

19. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

20. Large-scale genotyping identifies 41 new loci associated with breast cancer risk

21. Assessing interactions between the associations\ud of common genetic susceptibility variants,\ud reproductive history and body mass index with\ud breast cancer risk in the breast cancer association\ud consortium: a combined case-control study

22. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: A case-control study

23. Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

24. MicroRNA related polymorphisms and breast cancer risk

25. Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast

26. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

27. 19p13.1 Is a triple-negative-specific breast cancer susceptibility locus

28. Comparison of 6q25 breast cancer hits from Asian and European genome wide association studies in the Breast Cancer Association consortium (BCAC)

29. Confirmation of 5p12 as a susceptibility locus for progesterone-receptor- positive, lower grade breast cancer

30. IMS learning design support for the formalization of collaborative learning patterns.

31. IMS learning design support for the formalization of collaborative learning patterns

Catalog

Searchworks

Select search scope, currently: Articles Catalog books, media & more in Jio Institute collections Articles journal articles & other e-resources

Search

Search Constraints

Refine your results

Search Limiters

Topic

Publication Year Range

Language

Publication Type

Journal

Database

Publisher

31 results on '"Perez, J.I.A."'

Search Results

Catalog

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources