1] Brigham and Women's Hospital, Boston, Massachusetts, USA [2] Dana Farber Cancer Institute, Boston, Massachusetts, USA [3] Harvard Medical School, Boston, Massachusetts, USA.
Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.
Am J Gastroenterol. 2015 Feb;110(2):223-62; quiz 263. doi: 10.1038/ajg.2014.435. Epub 2015 Feb 3.
This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives. When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers. This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer.
本指南针对遗传性胃肠道癌症综合征患者的管理提出了建议。初步评估是收集癌症和癌前胃肠道疾病的家族史，应提供足够的信息，以便初步确定癌症家族易感性的风险。应记录所有诊断的发病年龄和谱系（母系和/或父系），尤其是一级和二级亲属。如果有指征，应通过家族史评估和/或肿瘤分析确定最具信息量的候选者进行种系突变的基因检测，以确认诊断并允许对风险亲属进行预测性检测。基因检测应在进行预测试和后测试遗传咨询的背景下进行，以确保患者知情决策。符合综合征临床标准的患者以及具有明确致病性种系突变的患者应接受适当的监测措施，以最大限度地降低其发展特定综合征癌症的总体风险。本指南专门讨论了林奇综合征、家族性腺瘤性息肉病 (FAP)、低外显率家族性腺瘤性息肉病 (AFAP)、MUTYH 相关息肉病 (MAP)、Peutz-Jeghers 综合征、青少年息肉病综合征、Cowden 综合征、锯齿状（增生性）息肉病综合征、遗传性胰腺癌和遗传性胃癌的基因检测和管理。
