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Genetic testing and counseling for hereditary forms of colorectal cancer.
Cancer. 1999 Dec 01; 86(11 Suppl):2540-50.C

Abstract

The discovery of genes responsible for inherited forms of colorectal cancer have the potential to improve cancer risk assessment and counseling. Germline mutations (nonsense, frameshift) of APC are associated with familial adenomatous polyposis, an autosomal dominant syndrome, clinically characterized by young onset, hundreds of adenomatous polyps in the colon, and increased risk for extracolonic tumors. Mutations in APC are also associated with forms of attenuated familial adenomatous polyposis. Germline mutations in five mismatch repair related genes (hMSH2, hMLH1, hMSH6, hPMS1, and hPMS2) cause hereditary nonpolyposis colorectal cancer and are associated with increased risk of somatic genetic alterations and high DNA microsatellite instability. Hereditary nonpolyposis colorectal cancer is characterized by young onset colorectal cancer, proximal colon location, and increased risk of extracolonic cancers. A missense mutation in APC (I1307K) is associated with some familial colorectal cancer in Ashkenazic Jews. For persons at risk for hereditary forms of colorectal cancer, testing algorithms and gene test interpretations depend on identification of the pedigree germline gene mutation. Careful evaluation of the kindred for characteristic aggregation of tumor types among affected individuals and the availability of affected persons for testing are important issues in implementing genetic testing and follow-up management. Case reports illustrate the importance of genetic counseling as a component of cancer genetic risk assessment. The genetic counseling process includes exploration of patient risk perception, sources of anxiety related to cancer risk, patient education (specific cancer-related issues, prevention/intervention options), discussion of possible gene test options, test limitations, and consequences of various gene test outcomes.

Authors+Show Affiliations

Department of Epidemiology, Johns Hopkins School of Public Health, Baltimore, Maryland 21205, USA.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Review

Language

eng

PubMed ID

10630180

Citation

Petersen, G M., et al. "Genetic Testing and Counseling for Hereditary Forms of Colorectal Cancer." Cancer, vol. 86, no. 11 Suppl, 1999, pp. 2540-50.
Petersen GM, Brensinger JD, Johnson KA, et al. Genetic testing and counseling for hereditary forms of colorectal cancer. Cancer. 1999;86(11 Suppl):2540-50.
Petersen, G. M., Brensinger, J. D., Johnson, K. A., & Giardiello, F. M. (1999). Genetic testing and counseling for hereditary forms of colorectal cancer. Cancer, 86(11 Suppl), 2540-50.
Petersen GM, et al. Genetic Testing and Counseling for Hereditary Forms of Colorectal Cancer. Cancer. 1999 Dec 1;86(11 Suppl):2540-50. PubMed PMID: 10630180.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic testing and counseling for hereditary forms of colorectal cancer. AU - Petersen,G M, AU - Brensinger,J D, AU - Johnson,K A, AU - Giardiello,F M, PY - 2000/1/12/pubmed PY - 2000/6/20/medline PY - 2000/1/12/entrez SP - 2540 EP - 50 JF - Cancer JO - Cancer VL - 86 IS - 11 Suppl N2 - The discovery of genes responsible for inherited forms of colorectal cancer have the potential to improve cancer risk assessment and counseling. Germline mutations (nonsense, frameshift) of APC are associated with familial adenomatous polyposis, an autosomal dominant syndrome, clinically characterized by young onset, hundreds of adenomatous polyps in the colon, and increased risk for extracolonic tumors. Mutations in APC are also associated with forms of attenuated familial adenomatous polyposis. Germline mutations in five mismatch repair related genes (hMSH2, hMLH1, hMSH6, hPMS1, and hPMS2) cause hereditary nonpolyposis colorectal cancer and are associated with increased risk of somatic genetic alterations and high DNA microsatellite instability. Hereditary nonpolyposis colorectal cancer is characterized by young onset colorectal cancer, proximal colon location, and increased risk of extracolonic cancers. A missense mutation in APC (I1307K) is associated with some familial colorectal cancer in Ashkenazic Jews. For persons at risk for hereditary forms of colorectal cancer, testing algorithms and gene test interpretations depend on identification of the pedigree germline gene mutation. Careful evaluation of the kindred for characteristic aggregation of tumor types among affected individuals and the availability of affected persons for testing are important issues in implementing genetic testing and follow-up management. Case reports illustrate the importance of genetic counseling as a component of cancer genetic risk assessment. The genetic counseling process includes exploration of patient risk perception, sources of anxiety related to cancer risk, patient education (specific cancer-related issues, prevention/intervention options), discussion of possible gene test options, test limitations, and consequences of various gene test outcomes. SN - 0008-543X UR - https://www.unboundmedicine.com/medline/citation/10630180/Genetic_testing_and_counseling_for_hereditary_forms_of_colorectal_cancer_ L2 - https://ClinicalTrials.gov/search/term=10630180 [PUBMED-IDS] DB - PRIME DP - Unbound Medicine ER -