Incidence of BRCA1 and BRCA2 mutations in Ashkenazi colorectal cancer patients: Preliminary study

Background: Mutations in BRCA genes are associated with an elevated inciden ce of colorectal cancer (CRC). 20% of CRC patients have a familial history of colonic malignancies, in only 5% is the genetic setting understood Thus, a majority of these patients lack any known genetic marker: Our aim was to explore the relevance of BRCA mutations to serve as such markers in the ge netic screening and counseling of CRC patients. Patients and Methods. 136 c onsecutive Israeli Jewish patients with sporadic CRC were screened for BRCA "Ashkenazi mutations": 185delAG, 5382insC and 6174delT. Carrier status was evaluated employing PCR restriction analysis, SSCP and a Pronto BRCA kit. Results:. We found one 185delAG and two 6174delT carriers, altogether three Ashkenazi carriers out of 87 Ashkenazi patients tested 3.5%. No carriers w ere found among the Arabs and non-Ashkenazi Jews surveyed. Conclusions: Our preliminary results show elevated rates of BRCA "Ashkenazi mutations" in A shkenazi CRC patients, suggesting their involvement in CRC carcinogenesis. An implementation of a wider study will establish the role of these mutatio ns as genetic markers for CRC.