Colon cancer screening practices after genetic counseling and testing for hereditary nonpolyposis colorectal cancer
Colon cancer screening practices after genetic counseling and testing for hereditary nonpolyposis colorectal cancer
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DOI：
10.1200/jco.2004.06.128
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发表时间：
2004-01-01
影响因子：
45.3
通讯作者：
Palmer, CGS
中科院分区：
文献类型：
--
作者：
Hadley, DW;Jenkins, JF;Palmer, CGS
目的遗传性非息肉病性结直肠癌（HNPCC）是最常见的遗传性结肠癌。癌症筛查建议在确定携带HNPCC突变的个体和不携带已知家族突变的个体之间有所不同。我们评估了遗传咨询和检测（GCT）对内窥镜筛查程序使用的影响，并对56名来自已知携带HNPCC突变家庭的无症状高危个体遵循推荐的内窥镜筛查指南进行了评估。患者和方法我们分析了17例突变阳性和39例真突变阴性患者在GCT前、GCT后6个月和12个月收集的结肠镜和乙状结肠镜筛查数据。主要结果测量是使用内镜筛查和遵守相关突变状态的推荐指南。突变状态、年龄、性别、就业和收入作为预测变量进行分析。结果在突变阴性个体中，结肠镜和乙状结肠镜的使用在gct前和gct后显著减少(P
PurposeHereditary nonpolyposis colorectal cancer (HNPCC) is the most common hereditary form of colon cancer. Cancer screening recommendations differ between individuals identified to carry an HNPCC mutation and those who do not carry a known family mutation. We assessed the impact of genetic counseling and testing (GCT) on the use of endoscopic screening procedures and adherence to recommended endoscopic screening guidelines in 56 asymptomatic at-risk individuals from families known to carry an HNPCC mutation.Patients and MethodsWe analyzed data on colonoscopy and flexible sigmoidoscopy screenings collected before GCT and 6 months and 12 months post-GCT on 17 mutation-positive and 39 true mutation-negative individuals. Main outcome measures were use of endoscopic screening and adherence to recommended guidelines for the relevant mutation status. Mutation status, age, sex, employment, and income were analyzed as predictor variables.ResultsAmong mutation-negative individuals, use of colonoscopy and flexible sigmoidoscopy decreased significantly between pre- and post-GCT (P