Resolving gastric cancer aetiology: an update in genetic predisposition.

作者: Paul C Lott , Luis G Carvajal-Carmona

DOI: 10.1016/S2468-1253(18)30237-1

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摘要: Summary Every year gastric cancer accounts for nearly 1 million new cases and more than 720 000 deaths worldwide. Prognosis is dismal because most patients are diagnosed with advanced disease; as such, outcomes will benefit from better methods identification of at-risk individuals that can be targeted early detection. One approach to targeting high-risk populations identify who genetically predisposed cancer, up 15% all report family history the disease. On basis clinical manifestations, three syndromes have been described, but diagnosis some these suboptimal could genetic information. Over past decade, genome-wide association next-generation sequencing studies identified several low penetrance variants genes, considerably increasing our understanding inherited predisposition. From studies, PALB2 has emerged a familial gene. Furthermore, analyses in sporadic suggest 10% pathogenic mutations, finding great importance aetiology. In this Review, we summarise role genetics aetiology implications findings prevention malignancy.

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