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Aimee L. Lucas, Laura E. Frado, Caroline Hwang, Sheila Kumar, Lauren G. Khanna, Elana J. Levinson, John A. Chabot, Wendy K. Chung and Harold Frucht BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts Cancer 120

Version of Record online: 15 APR 2014 | DOI: 10.1002/cncr.28662

The results of the current study demonstrate a yield of 18.9% for clinical BRCA1 and BRCA2 germline genetic testing in an unaffected cohort of patients at high risk of developing pancreatic cancer, and 21.8% in an affected cohort of patients with pancreatic cancer, suggesting that both BRCA1 and BRCA2 testing is useful in pancreatic cancer risk stratification and alters risk assignment and screening recommendations for mutation-positive patients and their families. Clinical BRCA1/2 testing should be considered in patients of Ashkenazi Jewish descent with a personal or family history of pancreatic ductal adenocarcinoma, even in the absence of a family history of breast and ovarian cancer.

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