Molecular diagnostics of cancer predisposition:: hereditary non-polyposis colorectal carcinoma and mismatch repair defects

被引:18
作者
Bocker, T
Rüschoff, J
Fishel, R
机构
[1] Thomas Jefferson Univ, Kimmel Canc Inst, Philadelphia, PA 19107 USA
[2] Klinikum Kassel, Inst Pathol, Kassel, Germany
来源
BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON CANCER | 1999年 / 1423卷 / 03期
关键词
hereditary non-polyposis colorectal carcinoma; hMSH2; hMLH1; microsatellite instability; immunohistochemistry;
D O I
10.1016/S0304-419X(99)00008-6
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Hereditary non-polyposis colorectal carcinoma accounts for 5-13% of all colorectal carcinomas and is inherited in a dominant fashion. Two different forms can be distinguished. Type I is restricted to colorectal cancers, whereas type II patients acquire acolorectal, endometrial, gastric, small intestinal and transitional carcinomas of the upper urinary tract. Germline mutations in the human mismatch repair genes (hMSH2, hMSH6, hMLH1, hPMS2) account for the majority of hereditary non-polyposis colorectal carcinoma. As a result of the mismatch repair deficiency, replication errors are not repaired, resulting in a mutator phenotype. Simple repetitive sequences (microsatellites) are especially prone to replication errors and analysis of their stability combined with immunohistochemical analysis of mismatch repair protein expression provides a rapid diagnostic strategy. For patients either (1) fulfilling the Amsterdam criteria for HNPCC, (2) with synchronous or metachronous hereditary non-polyposis colorectal carcinoma-related tumors, (3) with hereditary nonpolyposis colorectal carcinoma-related tumors before the age of 45 and/or (4) with right sided CRC and mucinous, solid, or cribriform growth patterns, screening for mismatch repair deficiencies should be performed. The identification of colorectal cancers displaying a mutator phenotype has implications for both treatment and prognosis. (C) 1999 Elsevier Science B.V. All rights reserved.
引用
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页码:O1 / O10
页数:10
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