作者: Giovanni Corso , Daniele Marrelli , Franco Roviello
DOI: 10.1007/S10689-010-9410-1
关键词: Genetic testing 、 Oncology 、 Medicine 、 Colorectal cancer 、 Cancer 、 Environmental exposure 、 STK11 、 Germline mutation 、 Hereditary diffuse gastric cancer 、 Human genetics 、 Internal medicine
摘要: About 90% of gastric carcinoma presents a sporadic setting and only 10% shows familial cluster; among this group, 1–3% are considered as hereditary syndromes, with clear genetic pathway. The most important mechanisms associated CDH1 germline mutations, causing the diffuse cancer syndrome. Other inherited predispositions nonpolyposis colorectal cancer, Li-Fraumeni Peutz-Jeghers syndromes. In brief update, we described these principal syndromes offering simple management to physicians where diseases diagnosed.