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

Gastrointestinal Oncology, Division of Hematology and Medical Oncology, Weill Cornell Medical College, New York Hospital, New York, NY 10021, USA.
Clinical Genetics (Impact Factor: 3.93). 06/2011; 82(3):283-7. DOI: 10.1111/j.1399-0004.2011.01744.x
Source: PubMed


Shah MA, Salo-Mullen E, Stadler Z, Ruggeri JM, Mirander M, Pristyazhnyuk Y, Zhang L. De novo CDH1 mutation in a family presenting with early-onset diffuse gastric cancer.
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.

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Available from: Manish A Shah, May 27, 2014
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    • "In 2012, the first conclusive case of a de novo CDH1 germline mutation (c.1792 C>T (R598X)) in a woman whose daughter was diagnosed with early-onset diffuse gastric cancer was reported [8]. On the other hand, CDH1 germline mutations can also be identified in sporadic early-onset gastric cancer in less than 4 % of patients who are 35 years of age at the time of diagnosis, presenting as de novo mutations [9]. "
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