Recommendations for follow-up care of individuals with an inherited predisposition to cancer .1. Hereditary nonpolyposis colon cancer
Recommendations for follow-up care of individuals with an inherited predisposition to cancer .1. Hereditary nonpolyposis colon cancer
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DOI：
10.1001/jama.277.11.915
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发表时间：
1997-03-19
影响因子：
120.7
通讯作者：
Varricchio, C
中科院分区：
文献类型：
--
作者：
Burke, W;Petersen, G;Varricchio, C
客观。-为携带遗传性非息肉病性结肠癌（HNPCC）相关突变的个体提供癌症监测和风险降低的建议。一个具有医学遗传学，肿瘤学，初级保健，胃肠病学和流行病学专业知识的工作组由癌症遗传学研究联盟（CGSC）召集，由国家人类基因组研究所（以前的国家人类基因组研究中心）组织。使用MEDLINE和由此确定的文章的参考书目来确定评估遗传上易患结肠癌的个体的癌症风险、监测和风险降低的研究。使用的索引术语是“遗传学”与“结肠癌”组合，以及“筛查"与”癌症家族“和”HNPCC“组合。对于评估特定干预措施的研究，证据质量采用美国预防服务工作组的标准进行评估。工作队通过14个月的讨论提出了建议。癌症监测或其他措施降低携带癌症易感突变个体风险的有效性尚不清楚，基于观察性研究，建议已知患有HNPC相关突变的个体从25岁开始每1至3年进行一次结肠镜检查，基于关于推定获益的专家意见，还建议进行子宫内膜癌筛查，没有推荐或反对预防性手术（即结肠切除术、子宫切除术）;这些手术是突变携带者的一种选择，但缺乏有益的证据，建议考虑进行基因检测的个人接受咨询，了解降低风险措施的未知功效，在旨在评价临床结果的研究方案范围内，尽可能提供具有癌症易感突变的个体。
Objective.-To provide recommendations for cancer surveillance and risk reduction for individuals carrying mutations associated with hereditary nonpolyposis colon cancer (HNPCC).Participants.-A task force with expertise in medical genetics, oncology, primary care, gastroenterology, and epidemiology convened by the Cancer Genetics Studies Consortium (CGSC), organized by the National Human Genome Research Institute (previously the National Center for Human Genome Research).Evidence.-Studies evaluating cancer risk, surveillance, and risk reduction in individuals genetically susceptible to colon cancer were identified using MEDLINE and bibliographies of articles thus identified, Indexing terms used were ''genetics'' in combination with ''colon cancer,'' and ''screening'' in combination with ''cancer family'' and ''HNPCC,'' For studies evaluating specific interventions, quality of evidence was assessed using criteria of the US Preventive Services Task Force.Consensus Process.-The task force developed recommendations through discussions over a 14-month period.Conclusions.-Efficacy of cancer surveillance or other measures to reduce risk in individuals who carry cancer-predisposing mutations is unknown, Based on observational studies, colonoscopy every 1 to 3 years starting at age 25 years is recommended for individuals known to have HNPCC-associated mutations, Endometrial cancer screening is also recommended, based on expert opinion concerning presumptive benefit, No recommendation is made for or against prophylactic surgery (ie, colectomy, hysterectomy); these surgeries are an option for mutation carriers, but evidence of benefit is lacking, It is recommended that individuals considering genetic testing be counseled regarding the unknown efficacy of measures to reduce risk and that care for individuals with cancer-predisposing mutations be provided whenever possible within the context of research protocols designed to evaluate clinical outcomes.