Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancer.


Journal Article

Mutations in BRCA1 and BRCA2 that predispose to breast and ovarian cancer are detected in approximately 2.5% of the Ashkenazi Jewish population. To explore whether carriers of Ashkenazi founder mutations in BRCA1 or BRCA2 have an increased risk for colorectal cancer, we screened 586 unselected Ashkenazi Jewish case patients with colorectal cancer for the three common founder mutations in BRCA1 and BRCA2. We identified six carriers (1.02%) among these case patients. After adjusting for age at diagnosis and sex by use of logistic regression analysis, we compared the incidence of carriers in this group of 586 case patients with that of 5012 Ashkenazi Jewish control subjects without a known history of colorectal cancer. The presence of a founder BRCA mutation was not associated with the risk of colorectal cancer (relative risk = 0.50, 95% confidence interval = 0.22 to 1.14). We thus recommend that counseling for colorectal cancer screening and prevention in individuals with BRCA mutations be based on the personal and family history of colorectal cancer or associated syndromic malignancies.

Full Text

Cited Authors

  • Kirchhoff, T; Satagopan, JM; Kauff, ND; Huang, H; Kolachana, P; Palmer, C; Rapaport, H; Nafa, K; Ellis, NA; Offit, K

Published Date

  • January 2004

Published In

Volume / Issue

  • 96 / 1

Start / End Page

  • 68 - 70

PubMed ID

  • 14709740

Pubmed Central ID

  • 14709740

Electronic International Standard Serial Number (EISSN)

  • 1460-2105

International Standard Serial Number (ISSN)

  • 0027-8874

Digital Object Identifier (DOI)

  • 10.1093/jnci/djh006


  • eng