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Panel testing reveals nonsense and missense CDH 1 mutations in families without hereditary diffuse gastric cancer

13 Jan 2016

Abstract excerpt

BACKGROUND: The reported penetrance of germline CDH1 mutations is high in families with hereditary diffuse gastric cancer (HDGC). Men and women have a 70% and 56%, respectively, cumulative risk of developing diffuse gastric cancer by age 80. Women additionally have a 42% cumulative risk of developing breast cancer. Due to the high penetrance of these mutations, prophylactic total gastrectomy is currently...

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PMID: 27064202
DOI: 10.1002/mgg3.197

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