Ipatimub-Institute of Molecular Pathology and Immunology & Instituto Instituto de Investigação e Inovação em Saúde, University of Porto, Porto, Portugal; Department of Pathology and Oncology, Faculty of Medicine, University of Porto, Porto, Portugal.
Ipatimub-Institute of Molecular Pathology and Immunology & Instituto Instituto de Investigação e Inovação em Saúde, University of Porto, Porto, Portugal.
Lancet Oncol. 2015 Feb;16(2):e60-70. doi: 10.1016/S1470-2045(14)71016-2.
Familial gastric cancer comprises at least three major syndromes: hereditary diffuse gastric cancer, gastric adenocarcinoma and proximal polyposis of the stomach, and familial intestinal gastric cancer. The risk of development of gastric cancer is high in families affected b-y these syndromes, but only hereditary diffuse gastric cancer is genetically explained (caused by germline alterations of CDH1, which encodes E-cadherin). Gastric cancer is also associated with a range of several cancer-associated syndromes with known genetic causes, such as Lynch, Li-Fraumeni, Peutz-Jeghers, hereditary breast-ovarian cancer syndromes, familial adenomatous polyposis, and juvenile polyposis. We present contemporary knowledge on the genetics, pathogenesis, and clinical features of familial gastric cancer, and discuss research and technological developments, which together are expected to open avenues for new genetic testing approaches and novel therapeutic strategies.
遗传性弥漫型胃癌、胃腺癌和胃近端息肉病，以及家族性肠型胃癌。受这些综合征影响的家族中，胃癌的发病风险很高，但只有遗传性弥漫型胃癌具有遗传解释（由 CDH1 种系改变引起，该基因编码 E-钙黏蛋白）。胃癌还与一系列具有已知遗传原因的几种癌症相关综合征相关，例如 Lynch、Li-Fraumeni、Peutz-Jeghers、遗传性乳腺癌-卵巢癌综合征、家族性腺瘤性息肉病和青少年息肉病。我们介绍了家族性胃癌的遗传学、发病机制和临床特征的最新知识，并讨论了研究和技术的发展，这些发展有望为新的基因检测方法和新的治疗策略开辟途径。
