Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)
Year: 2009
Type: article
Study design: Observational Study
Abstract: BACKGROUND: In this study we aimed to evaluate the role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers. METHODS: We have genotyped rs744154 in 9408 BRCA1 and 5632 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and assessed its association with breast cancer risk using a retrospective weighted cohort approach. RESULTS: We found no evidence of association with breast cancer risk for BRCA1 (per-allele HR: 0.98, 95% CI: 0.93-1.04, P = 0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P = 0.5) mutation carriers. CONCLUSION: This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out.
Source: British Journal of Cancer
Authors: KConFab, A Osorio, OCGN, SWE-BRCA, HEBON, EMBRACE, GEMO, Breast Cancer Family Registry, on behalf of CIMBA, R L Milne, G Pita, P Peterlongo, T Heikkinen, J Simard, G Chenevix-Trench, A B Spurdle, J Beesley, X Chen, S Healey, S L Neuhausen, Y C Ding, F J Couch, X Wang, N Lindor, S Manoukian, M Barile, A Viel, L Tizzoni, C I Szabo, L Foretova, M Zikan, K Claes, M H Greene, P Mai, G Rennert, F Lejbkowicz, O Barnett-Griness, I L Andrulis, H Ozcelik, N Weerasooriya, A-M Gerdes, M Thomassen, D G Cruger, M A Caligo, E Friedman, B Kaufman, Y Laitman, S Cohen, T Kontorovich, R Gershoni-Baruch, E Dagan, H Jernström, M S Askmalm, B Arver, B Malmer, S M Domchek, K L Nathanson, J Brunet, T Ramón y Cajal, D Yannoukakos, U Hamann, F B L Hogervorst, S Verhoef, EB Gómez García, J T Wijnen, A van den Ouweland, D F Easton, S Peock, M Cook, C T Oliver, D Frost, C Luccarini, D G Evans, F Lalloo, R Eeles, G Pichert, J Cook, S Hodgson, P J Morrison, F Douglas, A K Godwin, O M Sinilnikova, L Barjhoux, D Stoppa-Lyonnet, V Moncoutier, S Giraud, C Cassini, L Olivier-Faivre, F Révillion, J-P Peyrat, D Muller, J-P Fricker, H T Lynch, E M John, S Buys, M Daly, J L Hopper, M B Terry, A Miron, Y Yassin, D Goldgar, C F Singer, D Gschwantler-Kaulich, G Pfeiler, A-C Spiess, Thomas v O Hansen, O T Johannsson, T Kirchhoff, K Offit, K Kosarin, M Piedmonte, G C Rodriguez, K Wakeley, J F Boggess, J Basil, P E Schwartz, S V Blank, A E Toland, M Montagna, C Casella, E N Imyanitov, A Allavena, R K Schmutzler, B Versmold, C Engel, A Meindl, N Ditsch, N Arnold, D Niederacher, H Deißler, B Fiebig, R Varon-Mateeva, D Schaefer, U G Froster, T Caldes, M de la Hoya, L McGuffog, A C Antoniou, H Nevanlinna, P Radice, J Benítez
Institutions: Peter MacCallum Cancer Centre, Spanish National Cancer Research Centre, Cancer Care Ontario, IFOM, Fondazione IRCCS Istituto Nazionale dei Tumori, German Cancer Research Center, Helsinki University Hospital, Centre hospitalier universitaire de Québec, Université Laval, Centre National de la Recherche Scientifique, Inserm, Université de Lyon, QIMR Berghofer Medical Research Institute, Hospices Civils de Lyon, Centre Léon Bérard, Université Paris Descartes, Institut Curie, University of California, Irvine, Mayo Clinic, European Institute of Oncology, Centro di Riferimento Oncologico, Cogentech S.R.L. Società Benefit a Socio Unico soggetta all’attività di direzione e coordinamento di IFOM - Istituto Fondazione di Oncologia Molecolare ETS (Italy), Masaryk Memorial Cancer Institute, Charles University, Ghent University Hospital, National Cancer Institute, Technion – Israel Institute of Technology, Carmel Medical Center, Lunenfeld-Tanenbaum Research Institute, Odense University Hospital, Vejle Sygehus, University of Pisa, Azienda Ospedaliera Universitaria Pisana, Tel Aviv University, Sheba Medical Center, Rambam Health Care Campus, University of Haifa, Lund University, Linköping University Hospital, Karolinska University Hospital, Umeå University, Abramson Cancer Center, University of Pennsylvania, Institut Català d'Oncologia, Hospital de Sant Pau, National Centre of Scientific Research "Demokritos", The Netherlands Cancer Institute, Maastricht University Medical Centre, Leiden University Medical Center, Erasmus MC, University of Cambridge, Cancer Research UK, St Mary's Hospital, Royal Marsden NHS Foundation Trust, Institute of Cancer Research, Guy's Hospital, Sheffield Children's Hospital, University of London, St George's Hospital, St George's, University of London, Belfast City Hospital, Centre for Life, Fox Chase Cancer Center, Centre Georges François Leclerc, Centre Oscar Lambret, Institut Strauss, Creighton University, Cancer Prevention Institute of California, Huntsman Cancer Institute, The University of Melbourne, Columbia University, Dana-Farber Cancer Institute, University of Utah, Medical University of Vienna, National University Hospital of Iceland, Memorial Sloan Kettering Cancer Center, Roswell Park Comprehensive Cancer Center, Endeavor Health, Tufts University, Tufts Medical Center, University of North Carolina at Chapel Hill, St. Elizabeth Healthcare, Yale University, New York University, The Ohio State University, Istituto Oncologico Veneto, University of Padua, Institute of Oncology NN Petrov, University of Turin, University of Cologne, Leipzig University, Technical University of Munich, Ludwig-Maximilians-Universität München, Christian-Albrechts-Universität zu Kiel, Heinrich Heine University Düsseldorf, Universität Ulm, University of Regensburg, Humboldt-Universität zu Berlin, Charité – Universitätsmedizin Berlin, Goethe University Frankfurt, Hospital Clínico San Carlos
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $5,190
Funders: Breast Cancer Research Foundation, University of Pennsylvania, Ohio State University, Memorial Sloan-Kettering Cancer Center, Compagnia di San Paolo, Univerzita Karlova v Praze, Aarhus Universitet, Aarhus Universitetshospital, Université Laval, Cancer Care Ontario, Huntsman Cancer Institute, Royal Marsden NHS Foundation Trust, Cancer Research UK, National Institute for Health and Care Research, National Breast Cancer Foundation, Universiteit Leiden, Radboud Universiteit, Vrije Universiteit Amsterdam, Russian Foundation for Basic Research, Erasmus Medisch Centrum, Fonds Wetenschappelijk Onderzoek, Ministero della Salute, Lunds Universitet, Ministero dell’Istruzione, dell’Università e della Ricerca, Odense Universitetshospital, Universiteit Gent, KWF Kankerbestrijding, Associazione Italiana per la Ricerca sul Cancro, Leids Universitair Medisch Centrum, Akademiska Sjukhuset, Sahlgrenska Universitetssjukhuset, Deutsche Krebshilfe, Radboud Universitair Medisch Centrum, Università degli Studi di Torino, Uppsala Universitet, Fondazione Italiana per la Ricerca sul Cancro, Istituto Oncologico Veneto, Vlaamse regering, Alleanza Contro il Cancro, National Institutes of Health, lékařská fakulta Univerzity Karlovy, Canadian Institutes of Health Research, Medical Research Council, National Health and Medical Research Council, Instituto de Salud Carlos III, National Cancer Institute
Awards: Australian Breast Cancer Family Registry, G1090603134, G1101733550, How can the risk of breast cancer be reduced in those with a strong family history of the disease?, G1138412625, A genome-wide association study for breast cancer in BRCA1 mutation carriers, G121068745, G1241080153, G1329149947, G1357738703, G1491178406, G1616122786, G1950154987, G1952936224, G1998022053, G2019997256, G2229212590, G2294964640, G2325870751, Ontario Familial Breast Cancer Registry, G236237718, Northern California Cooperative Family Registry for Breast Cancer, G2617382035, G2620578876, G2646530656, G2731186574, G2920252501, G2987375258, G3010095802, G3081976211, G3177576377, G3182923297, G3188551179, G3189614998, Clinical Outcomes In Individuals With An Inherited Predisposition To Breast Cancer, G3413540472, BRCA2 missense mutations and breast cancer, G3493320632, G3569987435, G3628710615, G3637807152, G3700984039, Genetic epidemiology of cell division regulation in breast cancer, G3891343362, G389926461, G3970580488, GYNECOLOGIC ONCOLOGY GROUP STATISTICAL AND DATA CENTER, G4197410787, G423622538, G424082930, G431899019, G4333708648, G4357685540, G4662672464, G4734566217, G4885864782, Metropolitan New York Regisry of Breast Cancer Families, G5205548975, Gynecologic Oncology Group, G5470642588, G5525622839, G5820046225, G5865683244, G5932924763, G5950516432, G6229591247, G6254892548, G6279653796, G6289736641, G6488024090, Philadelphia Breast Cancer Family Registry, G6616185778, G6642005126, G6870614447, G7022277044, G704544610, G70736214, G7166237062, G7242219286, G7383316951, G7410254275, G7456659913, G7531233806, G7652198732, BRCA1 and BRCA2 missense mutations and breast cancer risk, G7700294005, G7777802643, G7912202055, G7931055399, kConFab Clinical Follow-Up Project, G8098678205, Utah Breast Cancer Family Registry, G823047857, G8320489521, G8578973111, G8611704976, G8892260180, G9000101281, G9000111071, Mayo Clinic Breast Cancer SPORE, Genetic Epidemiology of Breast Cancer: BRCA1 and BRCA2
OpenAlex ID: W2143602377