Germline BRCA Mutations Found in Almost 5% of Patients With Pancreatic Adenocarcinoma

Key Points

  • Germline BRCA mutations were found in 4.6% of patients with pancreatic adenocarcinoma.
  • Most carriers did not satisfy criteria for a family history of breast/ovarian cancer.

In a study reported in the Journal of Clinical Oncology, Holter et al found that 4.6% of a large clinic population of patients with pancreatic adenocarcinoma harbored pathogenic germline BRCA mutations.

The study involved analysis of 306 unselected, consecutive, incident patients with pancreatic ductal adenocarcinoma recruited at a single cancer center (Princess Margaret Cancer Centre, Toronto) over a 2-year period (August 2012–July 2014).

BRCA Carriers

Overall, pathogenic germline BRCA mutations were found in 14 patients (4.6%; 95% confidence interval = 2.2%–6.9%), including 11 patients with BRCA2 mutation and 3 with BRCA1 mutation. Among those harboring mutations, the mean age was 62 years, 7 were female, 10 were white, 4 had Ashkenazi Jewish heritage, 4 were never-smokers, 11 had stage III or IV disease, 5 had a prior cancer diagnosis (breast cancer in 2), and 2 had a family history of pancreatic cancer. Factors associated with mutation carrier status included a family history for breast/ovarian cancer meeting genetic testing criteria of the National Comprehensive Cancer Network (six patients; 43% vs 15% of mutation-negative patients, P = .02) or the Ontario Ministry of Health and Long-Term Care (five patients; 36% vs 3%, P < .002), although most mutation carriers did not meet these criteria. Self-reporting as Ashkenazi Jewish was also associated with carrier status (four patients; 29% vs 10%, P = .05).

The investigators concluded: “Pathogenic BRCA mutations were identified in 4.6% of a large cohort of clinic-based patients. 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.”

Steven Gallinger, MD, of Mount Sinai Hospital, Toronto, is the corresponding author of the Journal of Clinical Oncology article.

The study was supported by the Invest in Research Fund, Princess Margaret Foundation, Canadian Cancer Society Research Institute, and Pancreatic Cancer Canada. Neesha Dhani, MD, reported honoraria from Celgene and a consulting or advisory role with Incyte and Celgene.

The content in this post has not been reviewed by the American Society of Clinical Oncology, Inc. (ASCO®) and does not necessarily reflect the ideas and opinions of ASCO®.