@article{e93d84bb740843689300a242efff525c,
title = "Candidate genetic modifiers for breast and ovarian cancer risk inBRCA1andBRCA2 mutation carriers",
abstract = "Background: BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same mutation suggests the existence of genetic and nongenetic modifying factors. In this study, we evaluated the putative role of variants inmany candidate modifier genes. Methods: Genotyping data from 15,252 BRCA1 and 8,211 BRCA2 mutation carriers, for known variants (n = 3,248) located within or around 445 candidate genes, were available through the iCOGS custom-designed array. Breast and ovarian cancer association analysiswas performed within a retrospective cohort approach. Results: The observed P values of association ranged between 0.005 and 1.000. None of the variants was significantly associated with breast or ovarian cancer risk in either BRCA1 or BRCA2 mutation carriers, after multiple testing adjustments. Conclusion: There is little evidence that any of the evaluated candidate variants act as modifiers of breast and/or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers. Impact: Genome-wide association studies have been more successful at identifying genetic modifiers of BRCA1/2 penetrance than candidate gene studies.",
author = "{On Behalf Of Gemo Study Collaborators} and Paolo Peterlongo and Jenny Chang-Claude and Moysich, {Kirsten B.} and Anja Rudolph and Schmutzler, {Rita K.} and Jacques Simard and Penny Soucy and Eeles, {Rosalind A.} and Easton, {Douglas F.} and Ute Hamann and Stefan Wilkening and Bowang Chen and Rookus, {Matti A.} and Schmidt, {Marjanka K.} and {Van Der Baan}, {Frederieke H.} and Spurdle, {Amanda B.} and Walker, {Logan C.} and Felicity Lose and Maia, {Ana Teresa} and Marco Montagna and Laura Matricardi and Jan Lubinski and Anna Jakubowska and Garcia, {Encarna B.G{\'o}mez} and Olopade, {Olufunmilayo I.} and Nussbaum, {Robert L.} and Nathanson, {Katherine L.} and Domchek, {Susan M.} and Rebbeck, {Timothy R.} and Arun, {Banu K.} and Karlan, {Beth Y.} and Sandra Orsulic and Jenny Lester and Chung, {Wendy K.} and Alex Miron and Southey, {Melissa C.} and Goldgar, {David E.} and Buys, {Saundra S.} and Ramunas Janavicius and Dorfling, {Cecilia M.} and {Van Rensburg}, {Elizabeth J.} and Ding, {Yuan Chun} and Neuhausen, {Susan L.} and Hansen, {Thomas V.O.} and Gerdes, {Anne Marie} and Bent Ejlertsen and Lars J{\o}nson and Ana Osorio and Couch, {Fergus J.} and Lindor, {Noralane M.}",
note = "Publisher Copyright: {\textcopyright} 2014 American Association for Cancer Research.",
year = "2015",
month = jan,
day = "1",
doi = "10.1158/1055-9965.EPI-14-0532",
language = "English (US)",
volume = "24",
pages = "308--316",
journal = "Cancer Epidemiology Biomarkers and Prevention",
issn = "1055-9965",
publisher = "American Association for Cancer Research Inc.",
number = "1",
}