Genetic testing for hereditary nonpolyposis colorectal cancer
作者:
Deepa Jagadeesh,
Sapna Syngal,
期刊:
Current Opinion in Gastroenterology
(OVID Available online 2003)
卷期:
Volume 19,
issue 1
页码: 57-63
ISSN:0267-1379
年代: 2003
出版商: OVID
数据来源: OVID
摘要:
Colorectal cancer remains a major cause of morbidity and mortality in United States. While most newly diagnosed cases are sporadic, a small percent of colorectal cancers are due to hereditary cancer syndromes, of which hereditary nonpolyposis colorectal cancer (HNPCC) is the most common. HNPCC is caused by mutations resulting in defective DNA mismatch repair gene function. Advances in molecular technology have enabled us to use genetic testing for HNPCC genes to identify high-risk families. Over the past several years, genetic testing for HNPCC has evolved from a research endeavor to a clinical test that often is an integral part of providing care for high-risk families. This article reviews the available genetic tests, genetic testing recommendations, interpretation of test results, and the clinical impact of genetic testing for HNPCC.
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