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

Tomas Kirchhoff, Jaya M. Satagopan, Noah D. Kauff, Helen Huang, Prema Kolachana, Crystal Palmer, Hannah Rapaport, Khedoudja Nafa, Nathan A. Ellis, Kenneth Offit

Research output: Contribution to journalArticlepeer-review

61 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)68-70
Number of pages3
JournalJournal of the National Cancer Institute
Issue number1
StatePublished - Jan 7 2004

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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