Identifying hereditary nonpolyposis colorectal cancer
Article Abstract:
Family cancer history in patients with colorectal cancer may best identify those who have the hereditary nonpolyposis form of the disease. Inherited genetic mutations may be associated with a very high lifetime risk of colon cancer. Patients with hereditary colon cancer may have a different prognosis and respond differently to chemotherapy drugs than patients with spontaneous colon cancer. Testing for these genetic defects may contribute to the diagnosis of hereditary disease, but may not be appropriately applied. Family history remains an important diagnostic tool.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 1998
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A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States
Article Abstract:
The existence of a large genomic deletion encompassing exons 1 to 6 of the MSH2 as a result of a founder effect is described. Its implications for the early detection and prevention of cancers associated with hereditary nonpolyposis colorectal cancer (HNPCC) are discussed.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 2004
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