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Clin Genet. 2012 Sep;82(3):283-7. doi: 10.1111/j.1399-0004.2011.01744.x. Epub 2011 Aug 2.

De novo CDH1 mutation in a family presenting with early-onset diffuse gastric cancer.

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  • 1Gastrointestinal Oncology, Division of Hematology and Medical Oncology, Weill Cornell Medical College, New York Hospital, New York, NY 10021, USA.


In this report, we describe the first concluded case of a de novo germline mutation in CDH1 in a hereditary diffuse gastric cancer (HDGC) kindred. The incident case was a woman with a personal history of Hodgkin's lymphoma and diffuse gastric cancer, who was then confirmed to have a CDH1 mutation (c.1792 C>T (R598X)). The patient's mother was found to have the same CDH1 germline mutation; however, neither maternal grandparent was found to carry the mutation, thus leading to a conclusion that the proband's mother's mutation is of de novo origin. This case highlights the importance of recognition of the HDGC syndrome and of testing for CDH1 germline mutations in young individuals with diffuse gastric cancer without a family history of the disease.

© 2011 John Wiley & Sons A/S.

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