CDH1‐related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk. Issue 7 (17th April 2020)

• Record Type: Journal Article
• Authors: LeBlanc, Shannon; Naveen, Dildeepa; Haan, Eric; Barnett, Christopher; Rawlings, Lesley; Roscioli, Tony; Poplawski, Nicola
• Is Part Of: American journal of medical genetics. Volume 182:Issue 7(2020)
• Page Start: 1780
• Page End: 1784
• Publication Date: 2020-04-17
• Subjects: blepharocheilodontic syndrome -- CDH1 -- genetic counseling -- hereditary diffuse gastric cancer; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.61601
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: 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.