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Allen-Brady K, Farnham JM, Camp NJ, et al. No evidence of BRCA2 mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigrees. BMC Res Notes. 2009;2:94doi: 10.1186/1756-0500-2-94.
Allen-Brady, K., Farnham, J. M., Camp, N. J., Karlins, E., Ostrander, E. A., & Cannon-Albright, L. A. (2009). No evidence of BRCA2 mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigrees. BMC research notes, 294. https://doi.org/10.1186/1756-0500-2-94
Allen-Brady, Kristina, et al. "No evidence of BRCA2 mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigrees." BMC research notes vol. 2 (2009): 94. doi: https://doi.org/10.1186/1756-0500-2-94
Allen-Brady K, Farnham JM, Camp NJ, Karlins E, Ostrander EA, Cannon-Albright LA. No evidence of BRCA2 mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigrees. BMC Res Notes. 2009 May 28;2:94. doi: 10.1186/1756-0500-2-94. PMID: 19476645; PMCID: PMC2694822.
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BMC Res Notes. 2009 May 28;2:94. doi: 10.1186/1756-0500-2-94.

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

BMC research notes

Kristina Allen-Brady, James M Farnham, Nicola J Camp, Eric Karlins, Elaine A Ostrander, Lisa A Cannon-Albright

Affiliations

  1. Genetic Epidemiology Group, Department of Biomedical Informatics, University of Utah School of Medicine, 391 Chipeta Way, Suite D, Salt Lake City, UT 84108, USA. [email protected]

PMID: 19476645 PMCID: PMC2694822 DOI: 10.1186/1756-0500-2-94

Abstract

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.,

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.

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