BRCA2 Germline Mutations in Familial Pancreatic Carcinoma

摘要: Background Although as many 10% of pancreatic cancer cases may have an inherited component, familial has not been linked to defects in any specific gene. Some studies shown that families with germline mutations the breast susceptibility gene BRCA2 increased risk and ovarian cancers, well a modestly cancer. To study these relationships more detail, we examined whether are associated Methods We identified 26 European which at least two first-degree relatives had histologically confirmed diagnosis ductal adenocarcinoma. sequenced genomic DNA isolated from peripheral blood lymphocytes obtained participating family members identify BRCA2. Results Three (12%, exact 95% confidence interval [CI] = 2% 30%) carried frameshift predicted result truncated protein. Two additional harbored previously designated unclassified variants Thus, 19% (exact CI 7% 39%) our either mutation or variant None met criteria for Conclusions Our data support important role subpopulation analysis should be included molecular genetic testing counseling strategies affected adenocarcinoma pancreas.