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Hereditary Nonpolyposis Colorectal Cancer: Diagnostic Strategies and Their Implications. Evidence Report/Technology Assessment Number 150.

机译：遗传性非息肉病性结直肠癌：诊断策略及其意义。证据报告/技术评估编号150。

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Hereditary Nonpolyposis Colorectal Cancer (HNPCC) has been defined clinically and genetically. The disorder has traditionally been recognized in kindreds with a clustering of related cancers in association with mutations in DNA mismatch repair genes. HNPCC is associated with a substantially increased risk for several forms of malignancy but particularly colorectal and endometrial cancer. There were three main objectives of this report: (1) to assess the sensitivity, specificity, and reliability of laboratory and genetic tests commonly used in evaluating patients for HNPCC (analytic validity); (2) to summarize the accuracy of commonly used clinical and laboratory characteristics for predicting the presence of HNPCC in patients with colorectal cancer (clinical validity) and use these estimates to describe the efficiency of various strategies for identifying patients with a mismatch repair mutation; (3) to describe the benefits and harms related to screening and testing patients with colorectal cancer and their family members for HNPCC.

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Bonis, P. A.; Trikalinos, T. A.; Chung, M.; Chew, P.; Ip, S.; DeVine, D. A.;
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年度 2007
页码 1-781
总页数 781
原文格式 PDF
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关键词
Cancer; Screening; Clinical trials; Diagnosis; Colon cancer; Risk; Mutations; DNA; HNPCC(Hereditary Nonpolyposis Colorectal Cancer); Hereditary Nonpolyposis Colorectal Cancer(HNPCC); Colorectal cancer; Endometrial cancer; Malignancy;

机译：癌症;筛查;临床试验;诊断;结肠癌;风险;突变; DNa; HNpCC（遗传性非息肉病性结直肠癌）;遗传性非息肉病性结直肠癌（HNpCC）;结直肠癌;子宫内膜癌;恶性肿瘤;

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1. Clinical and genetic features of International Collaborative Group-hereditary nonpolyposis colorectal cancer families and suspected hereditary nonpolyposis colorectal cancer families [J] . YUAN Ying, YE Jun, ZHENG Shu Chinese Medical Journal . 2004,第5期

机译：国际合作组织遗传性非息肉病结直肠癌家族和疑似遗传性非息肉病结直肠癌家族的临床和遗传特征
2. Clinical and genetic features of International Collaborative Group-hereditary nonpolyposis colorectal cancer families and suspected hereditary nonpolyposis colorectal cancer families [J] . 袁瑛, 叶俊, 郑树中华医学杂志（英文版） . 2004,第005期

机译：国际合作组织遗传性非息肉性结直肠癌家族和疑似遗传性非息肉性结直肠癌家族的临床和遗传特征
3. Identification and classification of hereditary nonpolyposis colorectal cancer (Lynch syndrome): adapting old concepts to recent advancements. Report from the Italian Association for the study of Hereditary Colorectal Tumors Consensus Group. [J] . Ponz-de-Leon M, Bertario L, Genuardi M, Diseases of the Colon and Rectum . 2007,第12期

机译：遗传性非痘痘病变结直肠癌（Lynch综合征）的鉴定与分类：适应旧概念到最近的进步。意大利遗传结直肠癌肿瘤共识群体研究协会的报告。
4. Clinical Implications of Molecular Diagnosis in Hereditary Nonpolyposis Colorectal Cancer [C] . Gabriela Moslein International Meeting on Molecular Staging on Cancer . 2003

机译：遗传性非痘痘病变结直肠癌分子诊断的临床意义
5. Evaluation of the accuracy of quantitative models in predicting Lynch syndrome (hereditary nonpolyposis colorectal cancer with defective DNA mismatch repair) mutations in a population-based sample of early-onset colorectal cancer patients [D] . Carpiniello, Lauren 2007

机译：在以人群为基础的早发性大肠癌患者样本中预测定量模型预测Lynch综合征（遗传性非息肉病性大肠直肠癌，DNA失配修复缺陷）的准确性
6. Hereditary nonpolyposis colorectal cancer: diagnostic strategies and their implications. [O] . Peter A Bonis, Thomas A Trikalinos, Mei Chung, -1

机译：遗传性非息肉性大肠癌：诊断策略及其意义。
7. Hereditary colorectal cancer : assessment of genotype-phenotype correlations and analysis of rare susceptibility genes in familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) [O] . Necker Judith 2008

机译：遗传性结直肠癌：家族性腺瘤性息肉病（Fap）和遗传性非息肉病性结直肠癌（HNpCC）中罕见易感基因的基因型 - 表型相关性评估
8. Alcohol Consumption and Cancer Risk: Understanding Possible Causal Mechanisms for Breast and Colorectal Cancers. Evidence Report/Technology Assessment No. 197 [R] . 2010

机译：酒精消耗和癌症风险：了解乳腺癌和结直肠癌可能的因果机制。第197号证据报告/技术评估

Hereditary Nonpolyposis Colorectal Cancer: Diagnostic Strategies and Their Implications. Evidence Report/Technology Assessment Number 150.

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