title: A specific RAD51 haplotype increases breast cancer risk in Jewish non-Ashkenazi high-risk women.
abstract: While the precise genes involved in determining familial breast cancer risk in addition to BRCA1/2 are mostly unknown, one strong candidate is RAD51. Jewish non-Ashkenazi women at high-risk for breast/ovarian cancer and ethnically matched controls were genotyped using four single nucleotide polymorphisms spanning the RAD51 genomic region, and the resulting haplotypes were constructed using the GERBIL algorithm. A total of 314 individuals were genotyped: 184 non-Ashkenazi high-risk women (119 with breast cancer), and 130 unaffected, average-risk ethnically matched controls. Using GEBRIL, three frequent haplotypes were constructed. One of the haplotypes (TGTA - coined haplotype 3) was present in 7.3% (19/260 haplotypes) of controls (n=130) and in 16.8% (40/238 haplotypes) of high-risk breast cancer patients (n=119, P=0.001). A specific RAD51 haplotype is more prevalent among non-Ashkenazi Jewish high-risk women than in average-risk population.
authors.affiliation: The Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer 52621, Israel.
authors.forename: Inabr
authors.initials: I
authors.lastname: Gal
authors.forename: Gad
authors.initials: G
authors.lastname: Kimmel
authors.forename: Ruth
authors.initials: R
authors.lastname: Gershoni-Baruch
authors.forename: Moshe Z
authors.initials: MZ
authors.lastname: Papa
authors.forename: Efrat
authors.initials: E
authors.lastname: Dagan
authors.forename: Ron
authors.initials: R
authors.lastname: Shamir
authors.forename: Eitan
authors.initials: E
authors.lastname: Friedman
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005838:Genotype; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D007585:Jews / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D016017:Odds Ratio; D051135:Rad51 Recombinase / Q000235:genetics*; D012307:Risk Factors
chemical_list: D051135:Rad51 Recombinase