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Genetics of colonic cancer.
Digestion. 1998 Aug; 59(5):481-92.D

Abstract

Research in hereditary forms of colorectal cancer (CRC) has increased almost logarithmically thanks in a major way to momentous discoveries in molecular genetics during the past decade. Between 10 and 20% of the total CRC burden is due to Mendelian-inherited CRC syndromes. The paradigm for hereditary CRC is familial adenomatous polyposis (FAP), wherein the APC germ-line mutation has been identified. This has contributed to the elucidation of genomic and clinical heterogeneity within the syndrome, wherein an attenuated form of FAP has been identified as a result of intragenic mutations within this large APC gene. The most common form of hereditary CRC is hereditary nonpolyposis colorectal cancer (HNPCC). Several mutator genes, namely hMSH2, hMLH1, hPMS1, hPMS2 and, more recently, hMSH6/GTBP, have been identified. These molecular genetic discoveries are providing new insights into the pathogenesis of CRC. Individuals within these kindreds who are harbingers of these germ-line mutations will benefit from screening and, one day, chemoprevention.

Authors+Show Affiliations

Department of Preventive Medicine, Creighton University School of Medicine, Omaha, Nebr., USA. htlynch@creighton.eduNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

9705533

Citation

Lynch, H T., and J F. Lynch. "Genetics of Colonic Cancer." Digestion, vol. 59, no. 5, 1998, pp. 481-92.
Lynch HT, Lynch JF. Genetics of colonic cancer. Digestion. 1998;59(5):481-92.
Lynch, H. T., & Lynch, J. F. (1998). Genetics of colonic cancer. Digestion, 59(5), 481-92.
Lynch HT, Lynch JF. Genetics of Colonic Cancer. Digestion. 1998;59(5):481-92. PubMed PMID: 9705533.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetics of colonic cancer. AU - Lynch,H T, AU - Lynch,J F, PY - 1998/8/15/pubmed PY - 2000/8/16/medline PY - 1998/8/15/entrez SP - 481 EP - 92 JF - Digestion JO - Digestion VL - 59 IS - 5 N2 - Research in hereditary forms of colorectal cancer (CRC) has increased almost logarithmically thanks in a major way to momentous discoveries in molecular genetics during the past decade. Between 10 and 20% of the total CRC burden is due to Mendelian-inherited CRC syndromes. The paradigm for hereditary CRC is familial adenomatous polyposis (FAP), wherein the APC germ-line mutation has been identified. This has contributed to the elucidation of genomic and clinical heterogeneity within the syndrome, wherein an attenuated form of FAP has been identified as a result of intragenic mutations within this large APC gene. The most common form of hereditary CRC is hereditary nonpolyposis colorectal cancer (HNPCC). Several mutator genes, namely hMSH2, hMLH1, hPMS1, hPMS2 and, more recently, hMSH6/GTBP, have been identified. These molecular genetic discoveries are providing new insights into the pathogenesis of CRC. Individuals within these kindreds who are harbingers of these germ-line mutations will benefit from screening and, one day, chemoprevention. SN - 0012-2823 UR - https://www.unboundmedicine.com/medline/citation/9705533/Genetics_of_colonic_cancer_ L2 - https://www.karger.com?DOI=10.1159/000007525 DB - PRIME DP - Unbound Medicine ER -