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

Shannon LeBlancDildeepa NaveenEric HaanChristopher P BarnettLesley RawlingsTony RoscioliNicola Poplawski

Published in: American journal of medical genetics. Part A (2020)

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.

Keyphrases

low grade
case report
early onset
dna repair
smoking cessation
oxidative stress
dna damage
human immunodeficiency virus