Having a family history of BRCA carriers is associated with BRCA mutation carrier status in patients with pancreatic ductal adenocarcinoma, according to a study published online ahead of print in the Journal of Clinical Oncology.

Spring Holter, MS, of Mount Sinai Hospital and fellow researchers looked at 306 unselected, consecutive, incident patients with pancreatic ductal adenocarcinoma who were recruited over a two-year period at a single cancer center.

Patients provided blood for DNA analysis as well as family history of cancer, which was analyzed for germnline variants in BRCA1 and BRCA2.

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“The main purpose of this study was to determine the prevalence of pathogenic BRCA1 and BRCA2 mutations in a consecutively ascertained clinic-based cohort of patients with pancreatic ductal adenocarcinoma and describe the clinical and family history characteristics,” the authors noted.

They found pathogenic germline BRCA mutations in 14 patients, including 11 patients with BRCA2 and three with BRCA1. A family history of cancer that met genetic testing criteria as well as self-reported Ashkenazi Jewish background were significantly associated with BRCA mutation carrier status.

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However, the majority of BRCA mutation-positive patients did not meet the criteria in the present study.

“Considering the implications for family members of BRCA carriers, and possibly tailored chemotherapeutic treatment of patients, our finding has implications for broader BRCA genetic testing for patients with pancreatic ductal adenocarcinoma,” the authors concluded.


  1. Holter, Spring, et al. “Germline BRCA Mutations in a Large Clinic-Based Cohort of Patients With Pancreatic Adenocarcinoma.” Journal of Clinical Oncology. doi: 10.1200/JCO.2014.59.7401. [epub ahead of print]. May 4, 2015.