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      A specific RAD51 haplotype increases breast cancer risk in Jewish non-Ashkenazi high-risk women.

      European Journal of Cancer
      Breast Neoplasms, genetics, Case-Control Studies, Female, Genes, BRCA1, Genes, BRCA2, Genotype, Haplotypes, Heterozygote, Humans, Jews, Middle Aged, Mutation, Odds Ratio, Rad51 Recombinase, Risk Factors

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          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.

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