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[Recognising hereditary non-polyposis colorectal cancer without a clear family history].
Ned Tijdschr Geneeskd. 2004 Oct 16; 148(42):2053-7.NT

Abstract

In 3 patients, 2 men aged 46 and 51 years and a woman aged 54 years, with colorectal cancer there was insufficient information on the basis of the family history to diagnose 'hereditary non-polyposis colorectal cancer' (HNPCC). Further investigation showed microsatellite instability in the tumour material, an indicator for a mutation in DNA-'mismatch repair' (MMR-) genes. Immunohistochemical study of lymphocytes showed an absence of the gene products MSH2 and MSH6. Study of the MMR genes revealed a pathogenic germ-line mutation in MSH2. All three patients were satisfied with genetic testing of the MMR-genes as this gave their children and their family members the opportunity to clarify genetic status. HNPCC is a clinical diagnosis, based on family history. As family history taking is often incomplete, the diagnosis is regularly not considered. The following individual criteria can help to recognize a patient at risk for HNPCC: (a) colorectal cancer diagnosed below 50 years of age, (b) second colorectal cancer, (c) a combination of colorectal and endometrial cancer.

Authors+Show Affiliations

Afd. Antropogenetica, Universitair Medisch Centrum St Radboud, Postbus 91o1, 6500 HB Nijmegen. j.debruin@antrg.umcn.nlNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

dut

PubMed ID

15532325

Citation

de Bruin, J H F M., et al. "[Recognising Hereditary Non-polyposis Colorectal Cancer Without a Clear Family History]." Nederlands Tijdschrift Voor Geneeskunde, vol. 148, no. 42, 2004, pp. 2053-7.
de Bruin JH, Nagengast FM, Ligtenberg MJ, et al. [Recognising hereditary non-polyposis colorectal cancer without a clear family history]. Ned Tijdschr Geneeskd. 2004;148(42):2053-7.
de Bruin, J. H., Nagengast, F. M., Ligtenberg, M. J., van Krieken, J. H., Niermeijer, M. F., & Hoogerbrugge, N. (2004). [Recognising hereditary non-polyposis colorectal cancer without a clear family history]. Nederlands Tijdschrift Voor Geneeskunde, 148(42), 2053-7.
de Bruin JH, et al. [Recognising Hereditary Non-polyposis Colorectal Cancer Without a Clear Family History]. Ned Tijdschr Geneeskd. 2004 Oct 16;148(42):2053-7. PubMed PMID: 15532325.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Recognising hereditary non-polyposis colorectal cancer without a clear family history]. AU - de Bruin,J H F M, AU - Nagengast,F M, AU - Ligtenberg,M J L, AU - van Krieken,J H J M, AU - Niermeijer,M F, AU - Hoogerbrugge,N, PY - 2004/11/10/pubmed PY - 2004/12/24/medline PY - 2004/11/10/entrez SP - 2053 EP - 7 JF - Nederlands tijdschrift voor geneeskunde JO - Ned Tijdschr Geneeskd VL - 148 IS - 42 N2 - In 3 patients, 2 men aged 46 and 51 years and a woman aged 54 years, with colorectal cancer there was insufficient information on the basis of the family history to diagnose 'hereditary non-polyposis colorectal cancer' (HNPCC). Further investigation showed microsatellite instability in the tumour material, an indicator for a mutation in DNA-'mismatch repair' (MMR-) genes. Immunohistochemical study of lymphocytes showed an absence of the gene products MSH2 and MSH6. Study of the MMR genes revealed a pathogenic germ-line mutation in MSH2. All three patients were satisfied with genetic testing of the MMR-genes as this gave their children and their family members the opportunity to clarify genetic status. HNPCC is a clinical diagnosis, based on family history. As family history taking is often incomplete, the diagnosis is regularly not considered. The following individual criteria can help to recognize a patient at risk for HNPCC: (a) colorectal cancer diagnosed below 50 years of age, (b) second colorectal cancer, (c) a combination of colorectal and endometrial cancer. SN - 0028-2162 UR - https://www.unboundmedicine.com/medline/citation/15532325/[Recognising_hereditary_non_polyposis_colorectal_cancer_without_a_clear_family_history]_ L2 - http://www.diseaseinfosearch.org/result/5249 DB - PRIME DP - Unbound Medicine ER -