CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk.

Shannon LeBlanc, Dildeepa Naveen,Eric Haan,Christopher Barnett, Lesley Rawlings,Tony Roscioli,Nicola Poplawski

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2020）

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摘要

We report the first case of diffuse gastric cancer in an individual with familial blepharocheilodontic syndrome (BCD) due to a germline CDH1 likely pathogenic variant. To date, other BCD affected relatives are nonpenetrant for diffuse gastric cancer posing challenges to counseling regarding gastric and breast cancer surveillance, and preventative total gastrectomy.

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关键词

blepharocheilodontic syndrome,CDH1,genetic counseling,hereditary diffuse gastric cancer

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