ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
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DOI：
10.1038/ajg.2014.435
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发表时间：
2015-02
期刊：
影响因子：
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通讯作者：
American College of Gastroenterology
中科院分区：
文献类型：
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作者：
Syngal S;Brand RE;Church JM;Giardiello FM;Hampel HL;Burt RW;American College of Gastroenterology
本指南提出了遗传性胃肠癌综合征患者的管理建议。最初的评估是收集癌症和癌前胃肠道疾病的家族史，并应提供足够的信息来初步确定癌症家族易感性的风险。所有诊断都应记录诊断时的年龄和血统（母亲和/或父亲），特别是一级和二级亲属。当有指征时，应在通过家族史评估和/或肿瘤分析确定的信息量最大的候选人上进行生殖系突变的基因检测，以确认诊断并允许对有风险的亲属进行预测性检测。基因检测应在检测前和检测后的遗传咨询中进行，以确保患者做出明智的决定。符合综合征临床标准的患者以及具有已确定的致病性生殖系突变的患者应接受适当的监测措施，以最大限度地降低发生综合征特异性癌症的总体风险。本指南具体讨论了Lynch综合征、家族性腺瘤性息肉病（FAP）、减毒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。
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.