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[Genetics of colorectal cancer. I. Non-polyposis and polyposis forms of hereditary colorectal cancer].
Ned Tijdschr Geneeskd. 1999 Jun 05; 143(23):1201-6.NT

Abstract

About 5% of colorectal cancer cases are due to an autosomal dominant genetic predisposition with high penetrance. In this condition, the patient is carrier of a pathogenic gene mutation present in all body cells which can be transmitted to descendants, a so-called germ line mutation. The mutation is usually present in a tumour suppressor gene. Three subgroups of hereditary colorectal cancer can be distinguished on the basis of the clinical characteristics: (a) syndromes without polyposis (mostly hereditary non-polyposis colorectal carcinoma; HNPCC), (b) syndromes with adenomatous polyposis (mostly familial adenomatous polyposis; FAP) and (c) syndromes with hamartomatous polyposis. Recently, the main gene defects which underlie these syndromes were identified. Consequently, it is possible in approximately half the families with HNPCC or FAP in patients with colorectal cancer to demonstrate the causative gene defect and subsequently, by blood testing of healthy relatives to determine who is and is not a carrier of this hereditary condition. Thus, preventive measures can be directed toward family members with a demonstrable high risk of large bowel cancer.

Authors+Show Affiliations

Academisch Ziekenhuis Vrije Universiteit, afd. Klinische Genetica en Antropogenetica, Amsterdam. fh.menko.humgen@med.vu.nlNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

dut

PubMed ID

10389534

Citation

Menko, F H., et al. "[Genetics of Colorectal Cancer. I. Non-polyposis and Polyposis Forms of Hereditary Colorectal Cancer]." Nederlands Tijdschrift Voor Geneeskunde, vol. 143, no. 23, 1999, pp. 1201-6.
Menko FH, Griffioen G, Wijnen JT, et al. [Genetics of colorectal cancer. I. Non-polyposis and polyposis forms of hereditary colorectal cancer]. Ned Tijdschr Geneeskd. 1999;143(23):1201-6.
Menko, F. H., Griffioen, G., Wijnen, J. T., Tops, C. M., Fodde, R., & Vasen, H. F. (1999). [Genetics of colorectal cancer. I. Non-polyposis and polyposis forms of hereditary colorectal cancer]. Nederlands Tijdschrift Voor Geneeskunde, 143(23), 1201-6.
Menko FH, et al. [Genetics of Colorectal Cancer. I. Non-polyposis and Polyposis Forms of Hereditary Colorectal Cancer]. Ned Tijdschr Geneeskd. 1999 Jun 5;143(23):1201-6. PubMed PMID: 10389534.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Genetics of colorectal cancer. I. Non-polyposis and polyposis forms of hereditary colorectal cancer]. AU - Menko,F H, AU - Griffioen,G, AU - Wijnen,J T, AU - Tops,C M, AU - Fodde,R, AU - Vasen,H F, PY - 1999/7/2/pubmed PY - 1999/7/2/medline PY - 1999/7/2/entrez SP - 1201 EP - 6 JF - Nederlands tijdschrift voor geneeskunde JO - Ned Tijdschr Geneeskd VL - 143 IS - 23 N2 - About 5% of colorectal cancer cases are due to an autosomal dominant genetic predisposition with high penetrance. In this condition, the patient is carrier of a pathogenic gene mutation present in all body cells which can be transmitted to descendants, a so-called germ line mutation. The mutation is usually present in a tumour suppressor gene. Three subgroups of hereditary colorectal cancer can be distinguished on the basis of the clinical characteristics: (a) syndromes without polyposis (mostly hereditary non-polyposis colorectal carcinoma; HNPCC), (b) syndromes with adenomatous polyposis (mostly familial adenomatous polyposis; FAP) and (c) syndromes with hamartomatous polyposis. Recently, the main gene defects which underlie these syndromes were identified. Consequently, it is possible in approximately half the families with HNPCC or FAP in patients with colorectal cancer to demonstrate the causative gene defect and subsequently, by blood testing of healthy relatives to determine who is and is not a carrier of this hereditary condition. Thus, preventive measures can be directed toward family members with a demonstrable high risk of large bowel cancer. SN - 0028-2162 UR - https://www.unboundmedicine.com/medline/citation/10389534/[Genetics_of_colorectal_cancer__I__Non_polyposis_and_polyposis_forms_of_hereditary_colorectal_cancer]_ L2 - http://www.diseaseinfosearch.org/result/5249 DB - PRIME DP - Unbound Medicine ER -