RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies.
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Authors
Antoniou, Antonis CSinilnikova, Olga M
Simard, Jacques
Léoné, Mélanie
Dumont, Martine
Neuhausen, Susan L
Struewing, Jeffery P
Stoppa-Lyonnet, Dominique
Barjhoux, Laure
Hughes, David J
Coupier, Isabelle
Belotti, Muriel
Lasset, Christine
Bonadona, Valérie
Bignon, Yves-Jean
Rebbeck, Timothy R
Wagner, Theresa
Lynch, Henry T
Domchek, Susan M
Nathanson, Katherine L
Garber, Judy E
Weitzel, Jeffrey
Narod, Steven A
Tomlinson, Gail
Olopade, Olufunmilayo I
Godwin, Andrew
Isaacs, Claudine
Jakubowska, Anna
Lubinski, Jan
Gronwald, Jacek
Górski, Bohdan
Byrski, Tomasz
Huzarski, Tomasz
Peock, Susan
Cook, Margaret
Baynes, Caroline
Murray, Alexandra
Rogers, Mark
Daly, Peter A
Dorkins, Huw
Schmutzler, Rita K
Versmold, Beatrix
Engel, Christoph
Meindl, Alfons
Arnold, Norbert
Niederacher, Dieter
Deissler, Helmut
Spurdle, Amanda B
Chen, Xiaoqing
Waddell, Nicola
Cloonan, Nicole
Kirchhoff, Tomas
Offit, Kenneth
Friedman, Eitan
Kaufmann, Bella
Laitman, Yael
Galore, Gilli
Rennert, Gad
Lejbkowicz, Flavio
Raskin, Leon
Andrulis, Irene L
Ilyushik, Eduard
Ozcelik, Hilmi
Devilee, Peter
Vreeswijk, Maaike P G
Greene, Mark H
Prindiville, Sheila A
Osorio, Ana
Benitez, Javier
Zikan, Michal
Szabo, Csilla I
Kilpivaara, Outi
Nevanlinna, Heli
Hamann, Ute
Durocher, Francine
Arason, Adalgeir
Couch, Fergus J
Easton, Douglas F
Chenevix-Trench, Georgia
Issue Date
2007-12-01
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Am. J. Hum. Genet. 2007, 81(6):1186-1200Abstract
RAD51 is an important component of double-stranded DNA-repair mechanisms that interacts with both BRCA1 and BRCA2. A single-nucleotide polymorphism (SNP) in the 5' untranslated region (UTR) of RAD51, 135G-->C, has been suggested as a possible modifier of breast cancer risk in BRCA1 and BRCA2 mutation carriers. We pooled genotype data for 8,512 female mutation carriers from 19 studies for the RAD51 135G-->C SNP. We found evidence of an increased breast cancer risk in CC homozygotes (hazard ratio [HR] 1.92 [95% confidence interval {CI} 1.25-2.94) but not in heterozygotes (HR 0.95 [95% CI 0.83-1.07]; P=.002, by heterogeneity test with 2 degrees of freedom [df]). When BRCA1 and BRCA2 mutation carriers were analyzed separately, the increased risk was statistically significant only among BRCA2 mutation carriers, in whom we observed HRs of 1.17 (95% CI 0.91-1.51) among heterozygotes and 3.18 (95% CI 1.39-7.27) among rare homozygotes (P=.0007, by heterogeneity test with 2 df). In addition, we determined that the 135G-->C variant affects RAD51 splicing within the 5' UTR. Thus, 135G-->C may modify the risk of breast cancer in BRCA2 mutation carriers by altering the expression of RAD51. RAD51 is the first gene to be reliably identified as a modifier of risk among BRCA1/2 mutation carriers.Description
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http://dx.doi.org/10.1086/522611ae974a485f413a2113503eed53cd6c53
10.1086/522611
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