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CDH1‐related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk
Authors:Shannon LeBlanc  Dildeepa Naveen  Eric Haan  Christopher Barnett  Lesley Rawlings  Tony Roscioli  Nicola Poplawski
Affiliation:1. Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia;2. Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia;3. Metabolic Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia;4. Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia;5. Genetics & Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia;6. Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia;7. New South Wales Health Pathology, Prince of Wales Hospital, Randwick, New South Wales, Australia;8. Nicola Poplawski, Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia.
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.
Keywords:blepharocheilodontic syndrome  CDH1  genetic counseling  hereditary diffuse gastric cancer
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