Prevalence and Characterization of BRCA2 in Male Breast Cancer Cases.
Abstract
Male breast cancer (MBC) is rare, with an incidence rate of 0.5-1/100,000 per year. The objective of this grant is to study a series of unselected population-based MBC cases to characterize the role of BRCA2 in MBC and to estimate the attributable risk of MBC due to BRCA2 mutations. At the end of this third year of funding, we have collected DNA samples on 141 MBC cases and paraffin-embedded tissue on 21 of those. Of the 97 MBC cases with available family history data, 52 (54%) have a family history of breast cancer in first or second degree relatives. To detect germline mutations in BRCA2, single strand conformational analysis (SSCA) of the DNA samples is being performed for seventy-four amplicons spanning the entire coding region and intron/exon boundaries. All but one amplicon has been screened for mutations for the samples. We have identified frameshift, missense, silent, and non-coding mutations, and polymorphisms. We are currently examining whether the missence and non-coding mutations are likely polymorphisms. The actual mutations and estimated prevalence are unpublished, as yet, and are presented in the body of the progress report.
Document Details
- Document Type
- Technical Report
- Publication Date
- Jul 01, 1999
- Accession Number
- ADB249647
Entities
People
- Susan L. Neuhausen
Organizations
- University of Utah