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Background  Germline mutations in the  BRCA2  gene have been suggested to account for about 5% of familial prostate cancer; mutations have been reported in 2% of early onset (i.e., ≤ 55 years) prostate cancer cases and a segregating founder mutation has been identified in Iceland (999del5). However, the role of  BRCA2  in high risk prostate cancer pedigrees remains unclear.    Findings  We examined the potential involvement of  BRCA2  in a set offive high-risk prostate cancer pedigrees in which all prostate cases were no more distantly related than two meioses from another case, and the resulting cluster contained at least four prostate cancer cases. We selected these five pedigrees from a larger dataset of 59 high-risk prostate cancer pedigrees analyzed in a genome-wide linkage screen. Selected pedigrees showed at least nominal linkage evidence to the  BRCA2  region on chromosome 13q. We mutation screened all coding regions and intron/exon boundaries of the  BRCA2  gene in the youngest prostate cancer case who carried the linked 13q segregating haplotype, as well as in a distantly related haplotype carrier to confirm any segregation. We observed no known protein truncating  BRCA2  deleterious mutations. We identified one non-segregating  BRCA2  variant of uncertain significance, one non-segregating intronic variant not previously reported, and a number of polymorphisms.    Conclusion  In this set of high-risk prostate cancer pedigrees with at least nominal linkage evidence to  BRCA2 , we saw no evidence for segregating  BRCA2  protein truncating mutations in heritable prostate cancer.

No evidence of BRCA2 mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigrees