Promising outcomes of screening for pancreatic cancer by genetic testing and endoscopic ultrasound


Department of Gastroenterology, Genetic Counseling Program


OBJECTIVE: This study aimed to determine if screening patients based on certain cancer syndromes or family history criteria can lead to early detection of pancreatic cancer.

METHODS: This was a cohort study from 2008 to 2011 at a large tertiary referral center. A total of 30 patients met high-risk criteria after genetic counseling and were referred to a gastroenterologist for possible endoscopic ultrasound (EUS).

RESULTS: Of the 30 patients, 16 underwent EUS. Subsequently, 3 patients had fine needle aspiration. Two patients had pancreatic adenocarcinoma, and 1 patient had an intraductal papillary mucinous neoplasm with low-grade dysplasia. The 2 patients with pancreatic adenocarcinoma both had breast cancer and BRCA2 mutations. The patient with the intraductal papillary mucinous neoplasm had Peutz-Jeghers syndrome. All 3 patients underwent surgery and have remained cancer free.

CONCLUSIONS: Genetic risk assessment with EUS +/- fine needle aspiration in high-risk patients may lead to earlier detection of pancreatic cancer and potentially improve overall morbidity and mortality. Greater emphasis should be placed on screening patients for hereditary cancer syndromes that increase the risk of pancreatic cancer.

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PubMed ID



doi: 10.1097/MPA.0000000000000052.

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