Predominant Ashkenazi BRCA1/2 mutations in families with pancreatic cancer. E. Dagan^1,2, M. Haimi¹, R. Gershoni-Baruch^1,3. 1) Departement of Human Genetics, Rambam Medical Center, Haifa, Israel; 2) Departement of Nursing, the faculty of health and social studies, University of Haifa, Israel; 3) The Ruth and Bruce Rappaport faculty of medicine, Technion, Haifa.
   To study the frequency of the three predominant BRCA1 and 2 Ashkenazi mutations in patients with pancreatic cancer, we evaluated 1014 families recruited at our high risk breast-ovarian cancer onco-genetic clinic. Twenty three families with either personal or family history of pancreatic cancer were identified. In nine families the probands themselves presented with pancreatic cancer and two of them (22%) were found to carry a BRCA mutation (185delAG in one case and 6174delT mutations in BRCA1 and BRCA2, respectively). In the other 14 families, only a family history of pancreatic cancer was reported. Of these, seven families segregated either the 185delAG (3 families) or the 6174delT (4 families) mutation. Pedigree analysis shows that four of the seven pancreatic cancer cases were obligatory carriers. In the other seven families, without mutations in BRCA1 and 2, according to the family pedigrees, it seems that the patients with pancreatic cancer were non-carriers. In summary, in the 23 families with either a personal or family history of pancreatic cancer, reported in this study, six (26%) BRCA1 /2 mutation carriers were identified. In Ashkenazi Jews, mutations in BRCA1 and 2, may constitute a major cause for pancreatic cancer as is the case with ovarian cancer.