Accession Number:

ADB249647

Title:

Prevalence and Characterization of BRCA2 in Male Breast Cancer Cases.

Descriptive Note:

Annual rept. 15 Jun 1998-15 Jun 1999

Corporate Author:

UTAH UNIV SALT LAKE CITY

Personal Author(s):

Report Date:

1999-07-01

Pagination or Media Count:

14.0

Abstract:

Male breast cancer MBC is rare, with an incidence rate of 0.5-1100,000 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 intronexon 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 The actual mutations and estimated prevalence are unpublished, as yet, and are presented in the body of the progress report.

Subject Categories:

  • Anatomy and Physiology
  • Medicine and Medical Research

Distribution Statement:

APPROVED FOR PUBLIC RELEASE