遗传性胃肠道肿瘤综合征的管理和基因检测指南

Hereditary gastrointestinal (GI) cancer syndromes represent a phenotypically diverse group of disorders that exhibit distinct patterns of inheritance in an individual’s progeny. Over the past few decades, the expansion of familial cancer registries and advancement in genomics have led to the development of clinical diagnostic criteria for specifi c hereditary syndromes as well as the discovery of multiple genes in which germline mutations predispose individuals to syndrome-associated neoplastic manifestations. Th is guideline fi rst discusses essential elements of a patient’s personal and family history that allow for risk assessment for potential inherited cancer susceptibility. It then addresses the currently most well-characterized GI cancer susceptibility syndromes: Lynch syndrome (LS), familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH -associated polyposis (MAP), Peutz–Jeghers syndrome (PJS), juvenile polyposis syndrome (JPS), Cowden syndrome (CS), serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer. For each of these syndromes, we outline diagnostic criteria and indications for genetic evaluation, describe the currently known associated underlying genes, and make recommendations for surveillance and management of at-risk individuals and those found to carry a defi nitive disease-causing mutation. Finally, we discuss the elements of informed consent that must accompany genetic evaluation as well as currently evolving genetic testing technologies that may change how genetic testing is conducted in the near-term future.