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Inherited susceptibility to colorectal cancer.
Annu Rev Med. 2005; 56:539-54.AR

Abstract

The principal Mendelian disorders predisposing to colorectal cancer are familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC). FAP is due to mutations in the APC gene. HNPCC is due to a mutation in one of at least five mismatch repair genes. Identification of individuals with these conditions is important because colon cancer will occur in approximately 80% and onset is early. For FAP, protein truncation testing will identify the vast majority of mutations. For HNPCC, 80%-95% can be identified by microsatellite instability testing. A current U.S. study reports that 12% of consecutive colorectal cancers have high microsatellite instability and that, of this 12%, 25% have detectable mutations of MLH1, MSH2, or MSH6. Potential benefits of identification include improved compliance with recommended surveillance, early detection of polyps, reduction in cancer mortality, offering of testing to relatives, and reassurance for relatives found to be negative with attendant savings in the time and expense of surveillance.

Authors+Show Affiliations

Department of Medicine and Division of Genetics, University of Rochester, Rochester, New York 14642, USA. peter_rowley@urmc.rochester.edu

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

15660526

Citation

Rowley, Peter T.. "Inherited Susceptibility to Colorectal Cancer." Annual Review of Medicine, vol. 56, 2005, pp. 539-54.
Rowley PT. Inherited susceptibility to colorectal cancer. Annu Rev Med. 2005;56:539-54.
Rowley, P. T. (2005). Inherited susceptibility to colorectal cancer. Annual Review of Medicine, 56, 539-54.
Rowley PT. Inherited Susceptibility to Colorectal Cancer. Annu Rev Med. 2005;56:539-54. PubMed PMID: 15660526.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Inherited susceptibility to colorectal cancer. A1 - Rowley,Peter T, PY - 2005/1/22/pubmed PY - 2005/7/20/medline PY - 2005/1/22/entrez SP - 539 EP - 54 JF - Annual review of medicine JO - Annu Rev Med VL - 56 N2 - The principal Mendelian disorders predisposing to colorectal cancer are familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC). FAP is due to mutations in the APC gene. HNPCC is due to a mutation in one of at least five mismatch repair genes. Identification of individuals with these conditions is important because colon cancer will occur in approximately 80% and onset is early. For FAP, protein truncation testing will identify the vast majority of mutations. For HNPCC, 80%-95% can be identified by microsatellite instability testing. A current U.S. study reports that 12% of consecutive colorectal cancers have high microsatellite instability and that, of this 12%, 25% have detectable mutations of MLH1, MSH2, or MSH6. Potential benefits of identification include improved compliance with recommended surveillance, early detection of polyps, reduction in cancer mortality, offering of testing to relatives, and reassurance for relatives found to be negative with attendant savings in the time and expense of surveillance. SN - 0066-4219 UR - https://www.unboundmedicine.com/medline/citation/15660526/Inherited_susceptibility_to_colorectal_cancer_ L2 - https://arjournals.annualreviews.org/doi/10.1146/annurev.med.56.061704.135235?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -