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Genetic testing in colorectal cancer: who, when, how and why.
Keio J Med. 2007 Mar; 56(1):14-20.KJ

Abstract

Colorectal cancer (CRC) is among the most prevalent and preventable forms of cancer worldwide, accounting for over 600,000 deaths in 2005. Both genetic and environmental factors contribute to cancer etiology and estimates suggest that at least one third of CRC has a familial component. There is increased awareness of a strong genetic component to CRC risk, with the identification of several high penetrance alleles that predict increased CRC susceptibility. These include familial adenomatous polyposis (FAP), linked to mutations or deletions of the APC tumor suppressor gene, as well as Lynch syndrome (formerly known as hereditary non-polyposis colorectal cancer or HNPCC), which is linked to mutations or deletions of one or more mismatch repair genes including MLH1, MSH2 and MSH6. In addition, mutations in genes encoding key signaling molecules have been linked to autosomal dominant hamartomatous syndromes that are associated with increased susceptibility to CRC. These include Peutz-Jeghers syndrome, which is linked to mutations in STK11/LKB and Juvenile polyposis, which is linked to mutations in the genes encoding SMAD4 and BMPR1A. In addition to these high penetrance autosomal dominant alleles, recessive mutations in the MYH mismatch repair gene are associated with a phenotype similar to FAP. With the widespread availability of genetic testing for these alleles, physicians will be faced with a complex array of choices in terms of advocating who should be tested, when should such testing take place, how it should be conducted and interpreted and why it changes the management and outcomes for the patient and his or her family.

Authors+Show Affiliations

Division of Gastroenterology, Washington University School of Medicine, St. Louis, MO 63110, USA. nod@wustl.edu

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Review

Language

eng

PubMed ID

17392593

Citation

Davidson, Nicholas O.. "Genetic Testing in Colorectal Cancer: Who, When, How and Why." The Keio Journal of Medicine, vol. 56, no. 1, 2007, pp. 14-20.
Davidson NO. Genetic testing in colorectal cancer: who, when, how and why. Keio J Med. 2007;56(1):14-20.
Davidson, N. O. (2007). Genetic testing in colorectal cancer: who, when, how and why. The Keio Journal of Medicine, 56(1), 14-20.
Davidson NO. Genetic Testing in Colorectal Cancer: Who, When, How and Why. Keio J Med. 2007;56(1):14-20. PubMed PMID: 17392593.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic testing in colorectal cancer: who, when, how and why. A1 - Davidson,Nicholas O, PY - 2007/3/30/pubmed PY - 2007/5/2/medline PY - 2007/3/30/entrez SP - 14 EP - 20 JF - The Keio journal of medicine JO - Keio J Med VL - 56 IS - 1 N2 - Colorectal cancer (CRC) is among the most prevalent and preventable forms of cancer worldwide, accounting for over 600,000 deaths in 2005. Both genetic and environmental factors contribute to cancer etiology and estimates suggest that at least one third of CRC has a familial component. There is increased awareness of a strong genetic component to CRC risk, with the identification of several high penetrance alleles that predict increased CRC susceptibility. These include familial adenomatous polyposis (FAP), linked to mutations or deletions of the APC tumor suppressor gene, as well as Lynch syndrome (formerly known as hereditary non-polyposis colorectal cancer or HNPCC), which is linked to mutations or deletions of one or more mismatch repair genes including MLH1, MSH2 and MSH6. In addition, mutations in genes encoding key signaling molecules have been linked to autosomal dominant hamartomatous syndromes that are associated with increased susceptibility to CRC. These include Peutz-Jeghers syndrome, which is linked to mutations in STK11/LKB and Juvenile polyposis, which is linked to mutations in the genes encoding SMAD4 and BMPR1A. In addition to these high penetrance autosomal dominant alleles, recessive mutations in the MYH mismatch repair gene are associated with a phenotype similar to FAP. With the widespread availability of genetic testing for these alleles, physicians will be faced with a complex array of choices in terms of advocating who should be tested, when should such testing take place, how it should be conducted and interpreted and why it changes the management and outcomes for the patient and his or her family. SN - 0022-9717 UR - https://www.unboundmedicine.com/medline/citation/17392593/Genetic_testing_in_colorectal_cancer:_who_when_how_and_why_ L2 - https://japanlinkcenter.org/JST.JSTAGE/kjm/56.14?from=PubMed DB - PRIME DP - Unbound Medicine ER -