Identification of Germ-Line E-cadherin Mutations in Gastric Cancer Families of European Origin

作者: Simon A Gayther , Kylie L Gorringe , Susan J Ramus , David Huntsman , Franco Roviello

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摘要: E-cadherin germ-line mutations have recently been described as a molecular basis for early-onset familial gastric cancer in Maori kindred. We screened 18 families of European origin to determine the proportion which occur and clinical characteristics affected families. Truncating were identified three kindred with diffuse cancer. In these families, age onset was variable, penetrance incomplete, one contained individuals cancers at other sites. Here, we show that mutations; however, are absent intestinal

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