title: [Recognising hereditary non-polyposis colorectal cancer without a clear family history].
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.affiliation: Afd. Antropogenetica, Universitair Medisch Centrum St Radboud, Postbus 91o1, 6500 HB Nijmegen. j.debruin@antrg.umcn.nl
authors.forename: J H F M
authors.initials: JH
authors.lastname: de Bruin
authors.forename: F M
authors.initials: FM
authors.lastname: Nagengast
authors.forename: M J L
authors.initials: MJ
authors.lastname: Ligtenberg
authors.forename: J H J M
authors.initials: JH
authors.lastname: van Krieken
authors.forename: M F
authors.initials: MF
authors.lastname: Niermeijer
authors.forename: N
authors.initials: N
authors.lastname: Hoogerbrugge
mesh_terms: D020137:Base Pair Mismatch / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D004260:DNA Repair / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D051718:MutS Homolog 2 Protein; D009426:Netherlands; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; D011518:Proto-Oncogene Proteins; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein