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Pancreatic cancer screening in high-risk individuals with germline genetic mutations.

Abstract：

BACKGROUND AND AIMS:Pancreatic cancer (PC) is a deadly disease that is most commonly diagnosed at an incurable stage. Different high-risk genetic variants and cancer syndromes increase the lifetime risk of developing PC. This study aims to assess the yield of initial PC screening in patients with high-risk germline mutations. METHODS:Asymptomatic adults underwent PC screening by EUS, magnetic resonance imaging, or CT during a 10-year period and were retrospectively identified. High-risk individuals were defined as carrying germline mutations in BRCA1, BRCA2, p53 (Li-Fraumeni), STK11 (Peutz-Jeghers), MSH2 (Lynch), ATM (ataxia-telangiectasia), or APC (familial adenomatous polyposis). Patients without germline mutations were excluded. RESULTS:In total, 86 patients met the study criteria. The median age was 48.5 years (interquartile range, 40-58), 79.1% (68) were women, and 43.0% (37) had a family history of PC. The genetic mutations were BRCA2 (50, 58.1%), BRCA1 (14, 16.3%), p53 (12, 14.0%), STK11 (5, 5.8%), MSH2 (3, 3.5%), ATM (1, 1.2%), and APC (1, 1.2%). Screening detected a pancreatic abnormality (PA) in 26.7% (23/86), including cysts (11, 47.8%), hyperechoic strands and foci (10, 43.5%), and mild pancreatic duct dilation (2, 8.7%). Patients older than 60 years were more likely to have a PA detected (P = .043). EUS detected more PAs than magnetic resonance imaging or CT. No cases of PC were diagnosed by screening or during follow-up (median, 29.8 months; interquartile range, 21.7-43.5). CONCLUSIONS:Unless indicated otherwise by family or personal history, PC screening under the age of 50 is low yield. Linear EUS may be the preferred modality for initial PC screening.

journal_name

Gastrointest Endosc

journal_title

Gastrointestinal endoscopy

authors

DaVee T,Coronel E,Papafragkakis C,Thaiudom S,Lanke G,Chakinala RC,Nogueras González GM,Bhutani MS,Ross WA,Weston BR,Lee JH

doi

10.1016/j.gie.2017.12.019

subject

Has Abstract

pub_date

2018-06-01 00:00:00

pages

1443-1450

issue

6

eissn

0016-5107

issn

1097-6779

pii

S0016-5107(18)30005-1

journal_volume

87

pub_type

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