Outcome of Pancreatic Cancer Surveillance Among High-Risk Individuals Tested for Germline Mutations in BRCA1 and BRCA2

Published on Sep 1, 2019in Cancer Prevention Research3.473
· DOI :10.1158/1940-6207.CAPR-18-0272
Amethyst Saldia5
Estimated H-index: 5
(MSK: Memorial Sloan Kettering Cancer Center),
Sara H. Olson69
Estimated H-index: 69
(MSK: Memorial Sloan Kettering Cancer Center)
+ 8 AuthorsRobert C. Kurtz54
Estimated H-index: 54
(MSK: Memorial Sloan Kettering Cancer Center)
Germline mutations in BRCA1/2 are risk factors for pancreatic ductal adenocarcinoma (PDAC). The aim of this study was to evaluate whether results of surveillance for PDAC in high-risk individuals (HRI) differ between those with and without a pathogenic BRCA1/2 mutation. This prospective study was conducted within the Pancreatic Tumor Registry at a major cancer center. There were 83 HRI with >=1 first degree relative with PDAC who underwent surveillance and testing for pathogenic germline mutations in BRCA1/2. A secondary analysis includes 18 HRI with known mutations in BRCA1/2 but with weaker family history. HRI were evaluated over time using magnetic resonance cholangiopancreatography (MRCP) and endoscopic ultrasound (EUS) when indicated by MRCP findings. We reviewed imaging results, blinded to mutation status. Demographic information was obtained from interviewer-administered questionnaires. The outcome was the proportion with any pancreatic abnormality identified at initial or follow-up surveillance. Among the 83 HRI in the main analysis, 48 had a mutation in BRCA1/2 and 35 did not. Overall, 16/48 (33%) BRCA1/2 positive and 13/35 (37%) BRCA1/2 negative participants had pancreatic abnormalities on imaging; in each group, all but one finding was an intraductal papillary mucinous neoplasm. Among those with pathogenic mutations but weaker family history, results were similar: 7/18 (39%) with pancreatic abnormalities. Results of surveillance for pancreatic abnormalities on imaging are similar regardless of BRCA1/2 mutation status. While the results from this small study need confirmation in other studies, at present there doesn9t appear to be increased yield from targeting individuals with BRCA1/2 mutations for surveillance.
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