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321 results on '"Russell, Nicola S."'

2. High-dose alkylating chemotherapy in BRCA-altered triple-negative breast cancer: the randomized phase III NeoTN trial

Author

Vliek, Sonja, Hilbers, Florentine S., van Werkhoven, Erik, Mandjes, Ingrid, Kessels, Rob, Kleiterp, Sieta, Lips, Esther H., Mulder, Lennart, Kayembe, Mutamba T., Loo, Claudette E., Russell, Nicola S., Vrancken Peeters, Marie-Jeanne T. F. D., Holtkamp, Marjo J., Schot, Margaret, Baars, Joke W., Honkoop, Aafke H., Vulink, Annelie J. E., Imholz, Alex L. T., Vrijaldenhoven, Suzan, van den Berkmortel, Franchette W. P. J., Meerum Terwogt, Jetske M., Schrama, Jolanda G., Kuijer, Philomeen, Kroep, Judith R., van der Padt-Pruijsten, Annemieke, Wesseling, Jelle, Sonke, Gabe S., Gilhuijs, Kenneth G. A., Jager, Agnes, Nederlof, Petra, and Linn, Sabine C.

Published
2023
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7. Consensus on Contouring Primary Breast Tumors on MRI in the Setting of Neoadjuvant Partial Breast Irradiation in Trials

Author

Vasmel, Jeanine E., Groot Koerkamp, Maureen L., Kirby, Anna M., Russell, Nicola S., Shaitelman, Simona F., Vesprini, Danny, Anandadas, Carmel N., Currey, Adam, Keller, Brian M., Braunstein, Lior Z., Han, Kathy, Kotte, Alexis N.T.J., de Waard, Stephanie N., Philippens, Marielle E.P., Houweling, Antonetta C., Verkooijen, Helena M., and van den Bongard, H.J.G. Desiree

Published
2020
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9. Characterisation and classification of oligometastatic disease: a European Society for Radiotherapy and Oncology and European Organisation for Research and Treatment of Cancer consensus recommendation

Author

Guckenberger, Matthias, Lievens, Yolande, Bouma, Angelique B, Collette, Laurence, Dekker, Andre, deSouza, Nandita M, Dingemans, Anne-Marie C, Fournier, Beatrice, Hurkmans, Coen, Lecouvet, Frédéric E, Meattini, Icro, Méndez Romero, Alejandra, Ricardi, Umberto, Russell, Nicola S, Schanne, Daniel H, Scorsetti, Marta, Tombal, Bertrand, Verellen, Dirk, Verfaillie, Christine, and Ost, Piet

Published
2020
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11. Genetic susceptibility to radiation-induced breast cancer after Hodgkin lymphoma

Author

Opstal-van Winden, Annemieke W.J., de Haan, Hugoline G., Hauptmann, Michael, Schmidt, Marjanka K., Broeks, Annegien, Russell, Nicola S., Janus, Cécile P.M., Krol, Augustinus D.G., van der Baan, Frederieke H., De Bruin, Marie L., van Eggermond, Anna M., Dennis, Joe, Anton-Culver, Hoda, Haiman, Christopher A., Sawyer, Elinor J., Cox, Angela, Devilee, Peter, Hooning, Maartje J., Peto, Julian, Couch, Fergus J., Pharoah, Paul, Orr, Nick, Easton, Douglas F., Aleman, Berthe M.P., Strong, Louise C., Bhatia, Smita, Cooke, Rosie, Robison, Leslie L., Swerdlow, Anthony J., and van Leeuwen, Flora E.

Published
2019
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12. Quality of life after postmastectomy radiotherapy in patients with intermediate-risk breast cancer (SUPREMO): 2-year follow-up results of a randomised controlled trial

Author

Alhasso, A, Adamson, D, Algurafi, H, Allerton, R, Anandadas, C, Bahl, A, Barraclough, L, Barrett-Lee, P, Barthakur, U, Bedi, C, Beresford, M, Bishop, J, Blackman, G, Bliss, P, Bloomfield, D, Blunt, M, Branson, T, Brazil, L, Brunt, A, Chakrabarti, A, Chittalie, A, Churn, M, Clarke, J, Cleator, S, Crellin, P, Danwata, F, De-Silva-Minor, S, Dhadda, A, Eicholz, A, Fernando, I, Forrest, J, Fraser, J, Geropantas, K, Goodman, A, Grieve, R, Griffin, M, Hadaki, M, Hall, A, Hatton, M, Hicks, J, Hignett, S, Hogg, M, Jyothirmayi, R, Khan, M, Kumar, S, Lawton, P, Lee, D, Lewinski, C, Lim, C, Locke, I, Loncaster, J, Lumsden, G, Lupton, S, Magee, B, Marshall, J, Masinghe, S, McGregor, C, McLennan, M, Memtsa, P, Milanovic, D, Misra, V, Mithal, N, Mukesh, MB, Neal, A, Needleman, S, Persic, M, Quigley, M, Raj, S, Riddle, P, Ritchie, D, Roberts, F, Robson, P, Roe, H, Rolles, M, Shah, N, Sharma, R, Sherwin, E, Simmonds, P, Skailles, G, Skaria, S, Soe, W, Sripadam, R, Stevens, A, Stockdale, A, Storey, N, Syndikus, I, Thorp, N, Upadhyay, S, Varughese, M, Walji, N, Welch, R, Wells, T, Wolstenholme, V, Woodings, P, Yuille, F, Velikova, Galina, Williams, Linda Jane, Willis, Sarah, Dixon, J Michael, Loncaster, Juliette, Hatton, Matthew, Clarke, Jacqueline, Kunkler, Ian H, and Russell, Nicola S

Published
2018
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14. Immune induction strategies in metastatic triple-negative breast cancer to enhance the sensitivity to PD-1 blockade: the TONIC trial

Author

Voorwerk, Leonie, Slagter, Maarten, Horlings, Hugo M., Sikorska, Karolina, van de Vijver, Koen K., de Maaker, Michiel, Nederlof, Iris, Kluin, Roelof J. C., Warren, Sarah, Ong, SuFey, Wiersma, Terry G., Russell, Nicola S., Lalezari, Ferry, Schouten, Philip C., Bakker, Noor A. M., Ketelaars, Steven L. C., Peters, Dennis, Lange, Charlotte A. H., van Werkhoven, Erik, van Tinteren, Harm, Mandjes, Ingrid A. M., Kemper, Inge, Onderwater, Suzanne, Chalabi, Myriam, Wilgenhof, Sofie, Haanen, John B. A. G., Salgado, Roberto, de Visser, Karin E., Sonke, Gabe S., Wessels, Lodewyk F. A., Linn, Sabine C., Schumacher, Ton N., Blank, Christian U., and Kok, Marleen

Published
2019
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17. Identification of women with an increased risk of developing radiation-induced breast cancer: a case only study

Author

Broeks, Annegien, Braaf, Linde M, Huseinovic, Angelina, Nooijen, Anke, Urbanus, Jos, Hogervorst, Frans BL, Schmidt, Marjanka K, Klijn, Jan GM, Russell, Nicola S, Van Leeuwen, Flora E, and Van 't Veer, Laura J

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Prevention, Genetic Testing, Breast Cancer, Clinical Research, Cancer, Genetics, Aetiology, 2.1 Biological and endogenous factors, Adult, Ataxia Telangiectasia Mutated Proteins, Breast Neoplasms, Cell Cycle Proteins, Checkpoint Kinase 2, DNA Damage, DNA Repair, DNA-Binding Proteins, Female, Genes, BRCA1, Genes, BRCA2, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Middle Aged, Neoplasms, Radiation-Induced, Protein Serine-Threonine Kinases, Risk Factors, Tumor Suppressor Proteins, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

IntroductionRadiation exposure at a young age is one of the strongest risk factors for breast cancer. Germline mutations in genes involved in the DNA-damage repair pathway (DDRP) may render women more susceptible to radiation-induced breast cancer.MethodsWe evaluated the contribution of germline mutations in the DDRP genes BRCA1, BRCA2, CHEK2 and ATM to the risk of radiation-induced contralateral breast cancer (CBC). The germline mutation frequency was assessed, in a case-only study, in women who developed a CBC after they had a first breast cancer diagnosed before the age of 50 years, and who were (n = 169) or were not (n = 78) treated with radiotherapy for their first breast tumour.ResultsWe identified 27 BRCA1, 5 BRCA2, 15 CHEK2 and 4 truncating ATM germline mutation carriers among all CBC patients tested (21%). The mutation frequency was 24.3% among CBC patients with a history of radiotherapy, and 12.8% among patients not irradiated for the first breast tumour (odds ratio 2.18 (95% confidence interval 1.03 to 4.62); p = 0.043). The association between DDRP germline mutation carriers and risk of radiation-induced CBC seemed to be strongest in women who developed their second primary breast tumour at least 5 years after radiotherapy. Those patients had an odds ratio of 2.51 (95% confidence interval 1.03 to 6.10; p = 0.049) of developing radiation-induced breast cancer, in comparison with non-carriers.ConclusionThis study shows that carriers of germline mutations in a DDRP gene have an increased risk of developing (contralateral) breast cancer after radiotherapy; that is, over and above the risk associated with their carrier status. The increased risk indicates that knowledge of germline status of these DDRP genes at the time of breast cancer diagnosis may have important implications for the choice of treatment.

Published
2007

18. Cardiovascular disease incidence after internal mammary chain irradiation and anthracycline-based chemotherapy for breast cancer

Author

Boekel, Naomi B., Jacobse, Judy N., Schaapveld, Michael, Hooning, Maartje J., Gietema, Jourik A., Duane, Frances K., Taylor, Carolyn W., Darby, Sarah C., Hauptmann, Michael, Seynaeve, Caroline M., Baaijens, Margreet H. A., Sonke, Gabe S., Rutgers, Emiel J. T., Russell, Nicola S., Aleman, Berthe M. P., and van Leeuwen, Flora E.

Published
2018
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19. Quality of Life in Male Breast Cancer: Prospective Study of the International Male Breast Cancer Program (EORTC10085/TBCRC029/BIG2-07/NABCG)

Author

Schröder, Carolien P, primary, van Leeuwen-Stok, Elise, additional, Cardoso, Fatima, additional, Linderholm, Barbro, additional, Poncet, Coralie, additional, Wolff, Antonio C, additional, Bjelic-Radisic, Vesna, additional, Werutsky, Gustavo, additional, Abreu, Miguel H, additional, Bozovic-Spasojevic, Ivana, additional, den Hoed, Irma, additional, Honkoop, Aafke H, additional, Los, Maartje, additional, Leone, Jose P, additional, Russell, Nicola S, additional, Smilde, Tineke J, additional, van der Velden, Annette W G, additional, Van Poznak, Catherine, additional, Vleugel, Marije M, additional, Yung, Rachel L, additional, Coens, Corneel, additional, Giordano, Sharon H, additional, and Ruddy, Kathryn J, additional

Published
2023
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22. Prognostic Impact of Breast-Conserving Therapy Versus Mastectomy of BRCA1/2 Mutation Carriers Compared With Noncarriers in a Consecutive Series of Young Breast Cancer Patients

Author

van den Broek, Alexandra J., Schmidt, Marjanka K., van ’t Veer, Laura J., Oldenburg, Hester S. A., Rutgers, Emiel J., Russell, Nicola S., Smit, Vincent T. H. B. M., Voogd, Adri C., Koppert, Linetta B., Siesling, Sabine, Jobsen, Jan J., Westenend, Pieter J., van Leeuwen, Flora E., and Tollenaar, Rob A. E. M.

Published
2019
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23. Surgical outcomes following breast reconstruction in patients with and without a history of chest radiotherapy for hodgkin lymphoma:a multicentre, matched cohort study

Author

Harmeling, J Xavier, Woerdeman, Leonie A E, Ozdemir, Ezgi, Schaapveld, Michael, Oldenburg, Hester S A, Janus, Cécile P M, Russell, Nicola S, Koppert, Linetta B, Krul, Inge Miriam, van Leeuwen, Flora E, Mureau, Marc A M, Harmeling, J Xavier, Woerdeman, Leonie A E, Ozdemir, Ezgi, Schaapveld, Michael, Oldenburg, Hester S A, Janus, Cécile P M, Russell, Nicola S, Koppert, Linetta B, Krul, Inge Miriam, van Leeuwen, Flora E, and Mureau, Marc A M

Abstract

BACKGROUND: Breast cancer is the most common treatment-related second malignancy among women with previous chest radiotherapy for Hodgkin lymphoma (HL). Little is known about the effects of this kind of radiotherapy on the outcomes of postmastectomy breast reconstruction (BR). This study compared adverse outcomes of BR after HL-related chest radiotherapy to matched controls. METHODS: The authors conducted a retrospective, matched cohort study in two expert cancer centres in the Netherlands. BRs after therapeutic or prophylactic mastectomy in HL survivors who received chest radiotherapy were matched with BRs in nonirradiated patients without HL on age at mastectomy date, date of BR, and type of BR. The primary outcome was complication-related BR failure or conversion and secondary outcomes were complication-related re-operation, capsular contracture, major donor-site complications, and complication-related ICU admission. The authors analyzed all outcomes univariably using Fisher's exact tests and the authors assessed reconstruction failure, complication-related re-operation, and capsular contracture with multivariable Cox regression analysis adjusting for confounding and data clustering. RESULTS: Seventy BRs in 41 patients who received chest radiotherapy for HL were matched to 121 BRs in 110 nonirradiated patients. Reconstruction failure did not differ between HL survivors (12.9%) and controls (12.4%). The comparison groups showed no differences in number of reoperations, major donor-site complications, or capsular contractures. BR in HL survivors more often let to ICU admission due to complications compared with controls ( P =0.048). CONCLUSIONS: We observed no increased risk of adverse outcomes following BR after previous chest radiotherapy for HL. This is important information for counselling these patients and may improve shared decision-making.

Published
2023

24. High-dose alkylating chemotherapy in BRCA-altered triple-negative breast cancer: the randomized phase III NeoTN trial

Author

MS Medische Oncologie, Cancer, Beeldverwerking ISI, Pathologie, Vliek, Sonja, Hilbers, Florentine S, van Werkhoven, Erik, Mandjes, Ingrid, Kessels, Rob, Kleiterp, Sieta, Lips, Esther H, Mulder, Lennart, Kayembe, Mutamba T, Loo, Claudette E, Russell, Nicola S, Vrancken Peeters, Marie-Jeanne T F D, Holtkamp, Marjo J, Schot, Margaret, Baars, Joke W, Honkoop, Aafke H, Vulink, Annelie J E, Imholz, Alex L T, Vrijaldenhoven, Suzan, van den Berkmortel, Franchette W P J, Meerum Terwogt, Jetske M, Schrama, Jolanda G, Kuijer, Philomeen, Kroep, Judith R, van der Padt-Pruijsten, Annemieke, Wesseling, Jelle, Sonke, Gabe S, Gilhuijs, Kenneth G A, Jager, Agnes, Nederlof, Petra, Linn, Sabine C, MS Medische Oncologie, Cancer, Beeldverwerking ISI, Pathologie, Vliek, Sonja, Hilbers, Florentine S, van Werkhoven, Erik, Mandjes, Ingrid, Kessels, Rob, Kleiterp, Sieta, Lips, Esther H, Mulder, Lennart, Kayembe, Mutamba T, Loo, Claudette E, Russell, Nicola S, Vrancken Peeters, Marie-Jeanne T F D, Holtkamp, Marjo J, Schot, Margaret, Baars, Joke W, Honkoop, Aafke H, Vulink, Annelie J E, Imholz, Alex L T, Vrijaldenhoven, Suzan, van den Berkmortel, Franchette W P J, Meerum Terwogt, Jetske M, Schrama, Jolanda G, Kuijer, Philomeen, Kroep, Judith R, van der Padt-Pruijsten, Annemieke, Wesseling, Jelle, Sonke, Gabe S, Gilhuijs, Kenneth G A, Jager, Agnes, Nederlof, Petra, and Linn, Sabine C

Published
2023

25. Surgical outcomes following breast reconstruction in patients with and without a history of chest radiotherapy for Hodgkin lymphoma: a multicentre, matched cohort study

Author

Harmeling, J. Xavier, primary, Woerdeman, Leonie A.E., additional, Ozdemir, Ezgi, additional, Schaapveld, Michael, additional, Oldenburg, Hester S.A., additional, Janus, Cécile P.M., additional, Russell, Nicola S., additional, Koppert, Linetta B., additional, Krul, Inge M., additional, van Leeuwen, Flora E., additional, and Mureau, Marc A.M., additional

Published
2023
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28. Predictors of enduring clinical distress in women with breast cancer

Author

Lo-Fo-Wong, Deborah N. N., de Haes, Hanneke C. J. M., Aaronson, Neil K., van Abbema, Doris L., den Boer, Mathilda D., van Hezewijk, Marjan, Immink, Marcelle, Kaptein, Ad A., Menke-Pluijmers, Marian B. E., Reyners, Anna K. L., Russell, Nicola S., Schriek, Manon, Sijtsema, Sieta, van Tienhoven, Geertjan, and Sprangers, Mirjam A. G.

Published
2016
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29. Breast cancer and cardiovascular outcomes after breast cancer in survivors of Hodgkin lymphoma

Author

Krul, Inge M., primary, Boekel, Naomi B., additional, Kramer, Iris, additional, Janus, Cécile P. M., additional, Krol, Augustinus D. G., additional, Nijziel, Marten R., additional, Zijlstra, Josée M., additional, van der Maazen, Richard W. M., additional, Roesink, Judith M., additional, Jacobse, Judy N., additional, Schaapveld, Michael, additional, Schmidt, Marjanka K., additional, Opstal‐van Winden, Annemieke W. J., additional, Sonke, Gabe S., additional, Russell, Nicola S., additional, Aleman, Berthe M. P., additional, and van Leeuwen, Flora E., additional

Published
2022
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33. Publisher Correction: Immune induction strategies in metastatic triple-negative breast cancer to enhance the sensitivity to PD-1 blockade: the TONIC trial

Author

Voorwerk, Leonie, Slagter, Maarten, Horlings, Hugo M., Sikorska, Karolina, van de Vijver, Koen K., de Maaker, Michiel, Nederlof, Iris, Kluin, Roelof J. C., Warren, Sarah, Ong, SuFey, Wiersma, Terry G., Russell, Nicola S., Lalezari, Ferry, Schouten, Philip C., Bakker, Noor A. M., Ketelaars, Steven L. C., Peters, Dennis, Lange, Charlotte A. H., van Werkhoven, Erik, van Tinteren, Harm, Mandjes, Ingrid A. M., Kemper, Inge, Onderwater, Suzanne, Chalabi, Myriam, Wilgenhof, Sofie, Haanen, John B. A. G., Salgado, Roberto, de Visser, Karin E., Sonke, Gabe S., Wessels, Lodewyk F. A., Linn, Sabine C., Schumacher, Ton N., Blank, Christian U., and Kok, Marleen

Published
2019
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34. Radiotherapy-Related Dose and Irradiated Volume Effects on Breast Cancer Risk Among Hodgkin Lymphoma Survivors

Author

Roberti, Sander, primary, van Leeuwen, Flora E, additional, Ronckers, Cécile M, additional, Krul, Inge M, additional, de Vathaire, Florent, additional, Veres, Cristina, additional, Diallo, Ibrahima, additional, Janus, Cécile P M, additional, Aleman, Berthe M P, additional, Russell, Nicola S, additional, and Hauptmann, Michael, additional

Published
2022
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37. Radiotherapy-Related Dose and Irradiated Volume Effects on Breast Cancer Risk Among Hodgkin Lymphoma Survivors

Author

Roberti, Sander, van Leeuwen, Flora E., Ronckers, Cécile M., Krul, Inge M., de Vathaire, Florent, Veres, Cristina, Diallo, Ibrahima, Janus, Cécile P.M., Aleman, Berthe M.P., Russell, Nicola S., Hauptmann, Michael, Roberti, Sander, van Leeuwen, Flora E., Ronckers, Cécile M., Krul, Inge M., de Vathaire, Florent, Veres, Cristina, Diallo, Ibrahima, Janus, Cécile P.M., Aleman, Berthe M.P., Russell, Nicola S., and Hauptmann, Michael

Abstract

BACKGROUND: Breast cancer (BC) risk is increased among Hodgkin lymphoma (HL) survivors treated with chest radiotherapy. Case-control studies showed a linear radiation dose-response relationship for estimated dose to the breast tumor location. However, these relative risks cannot be used for absolute risk prediction of BC anywhere in the breasts. Furthermore, the independent and joint effects of radiation dose and irradiated volumes are unclear. Therefore, we examined the effects of mean breast dose and various dose-volume parameters on BC risk in HL patients. METHODS: We conducted a nested case-control study of BC among 5-year HL survivors (173 case patients, 464 matched control patients). Dose-volume histograms were obtained from reconstructed voxel-based 3-dimensional dose distributions. Summary parameters of dose-volume histograms were studied next to mean and median breast dose, Gini index, and the new dose metric mean absolute difference of dose, using categorical and linear excess odds ratio (EOR) models. Interactions between dose-volume parameters and mean dose were also examined. RESULTS: Statistically significant linear dose-response relationships were observed for mean breast dose (EOR per Gy = 0.19, 95% confidence interval [CI] = 0.05 to 1.06) and median dose (EOR/Gy = 0.06, 95% CI = 0.02 to 0.19), with no statistically significant curvature. All metrics except Gini and mean absolute difference were positively correlated with each other. These metrics all showed similar patterns of dose-response that were no longer statistically significant when adjusting for mean dose. No statistically significant modification of the effect of mean dose was observed. CONCLUSION: Mean breast dose predicts subsequent BC risk in long-term HL survivors.

Published
2022

38. Breast cancer patients' most important quality of life themes for a radiotherapy decision aid

Author

Trialbureau Beeld, Cancer, Roumen, Cheryl, Hasannejadasl, Hajar, Swart, Rachelle, Raphael, Daniela, Wee, Leonard, Sloep, Matthijs, van den Bongard, Desiree H J G, Verkooijen, Helena, Thijssen, Salina, Velting, Mirjam, Schuurman, Maaike, Russell, Nicola S, Fijten, Rianne, Boersma, Liesbeth J, Trialbureau Beeld, Cancer, Roumen, Cheryl, Hasannejadasl, Hajar, Swart, Rachelle, Raphael, Daniela, Wee, Leonard, Sloep, Matthijs, van den Bongard, Desiree H J G, Verkooijen, Helena, Thijssen, Salina, Velting, Mirjam, Schuurman, Maaike, Russell, Nicola S, Fijten, Rianne, and Boersma, Liesbeth J

Published
2022

39. Breast cancer and cardiovascular outcomes after breast cancer in survivors of Hodgkin lymphoma

Author

MS Radiotherapie, Cancer, Krul, Inge M, Boekel, Naomi B, Kramer, Iris, Janus, Cécile P M, Krol, Augustinus D G, Nijziel, Marten R, Zijlstra, Josée M, van der Maazen, Richard W M, Roesink, Judith M, Jacobse, Judy N, Schaapveld, Michael, Schmidt, Marjanka K, Opstal-van Winden, Annemieke W J, Sonke, Gabe S, Russell, Nicola S, Aleman, Berthe M P, van Leeuwen, Flora E, MS Radiotherapie, Cancer, Krul, Inge M, Boekel, Naomi B, Kramer, Iris, Janus, Cécile P M, Krol, Augustinus D G, Nijziel, Marten R, Zijlstra, Josée M, van der Maazen, Richard W M, Roesink, Judith M, Jacobse, Judy N, Schaapveld, Michael, Schmidt, Marjanka K, Opstal-van Winden, Annemieke W J, Sonke, Gabe S, Russell, Nicola S, Aleman, Berthe M P, and van Leeuwen, Flora E

Published
2022

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

Author

Coignard, Juliette, Lush, Michael, Beesley, Jonathan, O’Mara, Tracy A., Dennis, Joe, Tyrer, Jonathan P., Barnes, Daniel R., McGuffog, Lesley, Leslie, Goska, Bolla, Manjeet K., Adank, Muriel A., Agata, Simona, Ahearn, Thomas, Aittomäki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Arun, Banu K., Augustinsson, Annelie, Azzollini, Jacopo, Barrowdale, Daniel, Baynes, Caroline, Becher, Heko, Bermisheva, Marina, Bernstein, Leslie, Białkowska, Katarzyna, Blomqvist, Carl, Bojesen, Stig E., Bonanni, Bernardo, Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldés, Trinidad, Caligo, Maria A., Campa, Daniele, Carter, Brian D., Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Bertrand, Ophélie, Caputo, Sandrine, Dupré, Anaïs, le Mentec, Marine, Belotti, Muriel, Birot, Anne-Marie, Buecher, Bruno, Fourme, Emmanuelle, Gauthier-Villars, Marion, Golmard, Lisa, Houdayer, Claude, Moncoutier, Virginie, de Pauw, Antoine, Saule, Claire, Sinilnikova, Olga, Mazoyer, Sylvie, Damiola, Francesca, Barjhoux, Laure, Verny-Pierre, Carole, Léone, M. lanie, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Caron, Olivier, Guillaud-Bataille, Marine, Bressac-de-Paillerets, Brigitte, Bignon, Yves- Jean, Uhrhammer, Nancy, Lasset, Christine, Bonadona, Valérie, Berthet, Pascaline, Vaur, Dominique, Castera, Laurent, Noguchi, Tetsuro, Popovici, Cornel, Sobol, Hagay, Bourdon, Violaine, Remenieras, Audrey, Noguès, Catherine, Coupier, Isabelle, Pujol, Pascal, Dumont, Aurélie, Révillion, Françoise, Adenis, Claude, Muller, Danièle, Barouk-Simonet, Emmanuelle, Bonnet, Françoise, Bubien, Virginie, Sevenet, Nicolas, Longy, Michel, Toulas, Christine, Guimbaud, Rosine, Gladieff, Laurence, Feillel, Viviane, Leroux, Dominique, Dreyfus, H. lène, Rebischung, Christine, Peysselon, Magalie, Coron, Fanny, Faivre, Laurence, Baurand, Amandine, Jacquot, Caroline, Bertolone, Geoffrey, Lizard, Sarab, Prieur, Fabienne, Lebrun, Marine, Kientz, Caroline, Ferrer, Sandra Fert, Mari, V. ronique, Vénat-Bouvet, Laurence, Delnatte, Capucine, Bézieau, Stéphane, Mortemousque, Isabelle, Coulet, Florence, Colas, Chrystelle, Soubrier, Florent, Warcoin, Mathilde, Sokolowska, Johanna, Bronner, Myriam, Collonge-Rame, Marie-Agnès, Damette, Alexandre, Gesta, Paul, Lallaoui, Hakima, Chiesa, Jean, Molina-Gomes, Denise, Ingster, Olivier, Gregory, Helen, Miedzybrodzka, Zosia, Morrison, Patrick J., Ong, Kai-ren, Donaldson, Alan, Rogers, Mark T., Kennedy, M. John, Porteous, Mary E., Brewer, Carole, Davidson, Rosemarie, Izatt, Louise, Brady, Angela, Barwell, Julian, Adlard, Julian, Foo, Claire, Lalloo, Fiona, Side, Lucy E., Eason, Jacqueline, Henderson, Alex, Walker, Lisa, Eeles, Rosalind A., Cook, Jackie, Snape, Katie, Eccles, Diana, Murray, Alex, McCann, Emma, Collée, J. Margriet, Conroy, Don M., Czene, Kamila, Daly, Mary B., Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Dörk, Thilo, dos-Santos-Silva, Isabel, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Eliassen, A. Heather, Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Flyger, Henrik, Fostira, Florentia, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M., Garber, Judy, Garcia-Barberan, Vanesa, García-Closas, Montserrat, García-Sáenz, José A., Gaudet, Mia M., Gayther, Simon A., Gehrig, Andrea, Georgoulias, Vassilios, Giles, Graham G., Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Greene, Mark H., Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hart, Steven N., He, Wei, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hopper, John L., Horcasitas, Darling J., Hulick, Peter J., Hunter, David J., Imyanitov, Evgeny N., Fox, Stephen, Campbell, Ian, Spurdle, Amanda, Webb, Penny, de Fazio, Anna, Tassell, Margaret, Kirk, Judy, Lindeman, Geoff, Price, Melanie, Southey, Melissa, Milne, Roger, Deb, Sid, Bowtell, David, van der Hout, Annemieke H., van den Ouweland, Ans M. 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[0000-0003-2444-3247], Apollo - University of Cambridge Repository, Becher, Heiko [0000-0002-8808-6667], RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, German Cancer Research Center (DKFZ), National Health and Medical Research Council of Australia, United States Department of Health & Human Services National Institutes of Health (NIH) - USA, National Institute for Health Research (NIHR), Institut National du Cancer (INCA) France, Ligue nationale contre le cancer, Cancer Research UK, European Commision, Canadian Institutes of Health Research (CIHR), Cancer Council New South Wales, Accion Estrategica de Salud del Instituto de Salud Carlos III FIS Intrasalud, Xunta de Galicia, Fomento de la Investigacion Clinica Independiente, Ministerio de Sanidad, Servicios Sociales e Igualdad, Spain, Fondo de Investigacion Sanitario, California Breast Cancer Research Fund, Federal Ministry of Education & Research (BMBF), Netherlands Government, Russian Foundation for Basic Research (RFBR), O'Mara, Tracy A [0000-0002-5436-3232], Tyrer, Jonathan P [0000-0003-3724-4757], Barnes, Daniel R [0000-0002-3781-7570], Andrulis, Irene L [0000-0002-4226-6435], Bojesen, Stig E [0000-0002-4061-4133], Chanock, Stephen J [0000-0002-2324-3393], Chung, Wendy K [0000-0003-3438-5685], Claes, Kathleen BM [0000-0003-0841-7372], Collée, J Margriet [0000-0002-9272-9346], Dunning, Alison M [0000-0001-6651-7166], Eliassen, A Heather [0000-0002-3961-6609], García-Sáenz, José A [0000-0001-6880-0301], Gayther, Simon A [0000-0001-7937-5443], Giles, Graham G [0000-0003-4946-9099], Greene, Mark H [0000-0003-1852-9239], Hart, Steven N [0000-0001-7714-2734], Hulick, Peter J [0000-0001-8397-4078], James, Paul A [0000-0002-4361-4657], Jones, Michael E [0000-0001-7479-3451], Kurian, Allison W [0000-0002-6175-9470], Martens, John WM [0000-0002-3428-3366], Milne, Roger L [0000-0001-5764-7268], Nathanson, Katherine L [0000-0002-6740-0901], Olopade, Olufunmilayo I [0000-0002-9936-1599], Olson, Janet E [0000-0003-4944-7789], Parsons, Michael T [0000-0003-3242-8477], Pharoah, Paul DP [0000-0001-8494-732X], Sandler, Dale P [0000-0002-6776-0018], Schmidt, Marjanka K [0000-0002-2228-429X], Toland, Amanda E [0000-0002-0271-1792], Vachon, Celine M [0000-0002-1962-9322], Weitzel, Jeffrey N [0000-0001-6714-092X], Zorn, Kristin K [0000-0003-2143-8979], Park, Sue K [0000-0001-5002-9707], Easton, Douglas F [0000-0003-2444-3247], HUS Comprehensive Cancer Center, Department of Oncology, Clinicum, INDIVIDRUG - Individualized Drug Therapy, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Institut Català de la Salut, [Coignard J] Genetic Epidemiology of Cancer team, Inserm, U900, Paris, France. Institut Curie Paris, Paris, France. Mines ParisTech Fontainebleau, Paris, France. Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. PSL University Paris, Paris, France. Paris Sud University, Orsay, France. [Lush M, Dennis J] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [Beesley J, O'Mara TA] Department of Genetics and Computational Biology QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. [Tyrer JP] Centre for Cancer Genetic Epidemiology, Department of Oncology University of Cambridge, Cambridge, UK. [Diez O] Oncogenetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Lopez-Fernández A] High Risk and Cancer Prevention Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, ​Basic and Translational Research and Imaging Methodology Development in Groningen (BRIDGE), Life Course Epidemiology (LCE), Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), Human Genetics, ARD - Amsterdam Reproduction and Development, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, CCA - Cancer biology and immunology, Clinical Genetics, Medical Oncology, Pathology, and Radiology & Nuclear Medicine

Subjects
0301 basic medicine, Linkage disequilibrium, endocrine system diseases, Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES], 45/43, General Physics and Astronomy, Genome-wide association study, Linkage Disequilibrium, Breast cancer, 0302 clinical medicine, 3123 Gynaecology and paediatrics, Risk Factors, Genotype, breast neoplasms, Medicine and Health Sciences, 631/208/68, skin and connective tissue diseases, Cancer genetics, adult, alleles, BRCA1 protein, BRCA2 protein, female, genetic predisposition to disease, genome-wide association study, genotype, humans, linkage disequilibrium, middle aged, mutation, quantitative trait loci, risk factors, polymorphism, single nucleotide, HEBON Investigators, Genetics, neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES], education.field_of_study, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], Multidisciplinary, Otros calificadores::Otros calificadores::/genética [Otros calificadores], BRCA1 Protein, Genetic Predisposition to Disease/genetics, article, Single Nucleotide, Middle Aged, BRCA2 Protein/genetics, 3. Good health, Mama - Càncer - Factors de risc, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Genome-Wide Association Study/methods, Medical genetics, Female, Medical Genetics, 692/499, Adult, medicine.medical_specialty, 45/61, Science, 3122 Cancers, Population, Quantitative Trait Loci, Genetic Phenomena::Genetic Variation::Mutation [PHENOMENA AND PROCESSES], ABCTB Investigators, 631/67/2324, Breast Neoplasms, Biology, Breast Neoplasms/genetics, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Càncer de mama, GEMO Study Collaborators, 03 medical and health sciences, Cancer epidemiology, SDG 3 - Good Health and Well-being, Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, Humans, Genetic Predisposition to Disease, Allele, Polymorphism, education, EMBRACE Collaborators, fenómenos genéticos::variación genética::mutación [FENÓMENOS Y PROCESOS], Alleles, Medicinsk genetik, BRCA2 Protein, Mutació (Biologia), General Chemistry, 631/67/1347, Genotype frequency, 030104 developmental biology, Mutation, Mama - Càncer - Aspectes genètics, BRCA1 Protein/genetics, 3111 Biomedicine, KConFab Investigators, Quantitative Trait Loci/genetics, Genètica, Genome-Wide Association Study
Abstract

Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P, Breast cancer risk for BRCA1/BRCA2 mutation carriers varies depending on other genetic factors. Here, the authors perform a case-only genome-wide association study and highlight novel loci associated with breast cancer risk for BRCA1/BRCA2 mutation carriers.

Published
2021
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