Lv Xiao-Peng
Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical College, The Affiliated Xuzhou Hospital of Medical College of Southeast University, Xuzhou, Jiangsu 221009, P.R. China.
Oncol Lett. 2017 Mar;13(3):1499-1508. doi: 10.3892/ol.2017.5629. Epub 2017 Jan 20.
Gastrointestinal (GI) tract cancers that arise due to genetic mutations affect a large number of individuals worldwide. Even though many of the GI tract cancers arise sporadically, few of these GI tract cancers harboring a hereditary predisposition are now recognized and well characterized. These include Cowden syndrome, -associated polyposis, hereditary pancreatic cancer, Lynch syndrome, Peutz-Jeghers syndrome, familial adenomatous polyposis (FAP), attenuated FAP, serrated polyposis syndrome, and hereditary gastric cancer. Molecular characterization of the genes that are involved in these syndromes was useful in the development of genetic testing for diagnosis and also facilitated understanding of the genetic basis of GI cancers. Current knowledge on the genetics of GI cancers with emphasis on heritability and germ line mutations forms the basis of the present review.
由基因突变引起的胃肠道（GI）癌症影响着全球大量人群。尽管许多胃肠道癌症是散发性的，但现在已识别并充分表征了少数具有遗传易感性的胃肠道癌症。这些包括考登综合征、相关息肉病、遗传性胰腺癌、林奇综合征、黑斑息肉综合征、家族性腺瘤性息肉病（FAP）、轻度FAP、锯齿状息肉综合征和遗传性胃癌。对这些综合征所涉及基因的分子表征有助于开发用于诊断的基因检测，也有助于理解胃肠道癌症的遗传基础。本文综述重点关注遗传性和种系突变的胃肠道癌症遗传学的当前知识。
