title: Analysis of microsatellite instability and BRCA1 mutations in patients from hereditary nonpolyposis colorectal cancer (HNPCC) family.
abstract: Susceptibility to colorectal cancer appears to be linked to germ-line mutations in genes causing various familial cancer syndromes. The objectives of this study were to determine microsatellite instability and the frequency of BRCA1 germ-line mutations in patients with family history of cancer. The study population consisted of 30 patients from HNPCC family. Patients completed a family history questionnaire and provided blood for mutation analysis. Seven out of 30 investigated samples (23%) were found to be MSI-positive, 6 MSI-high and 1 MSI-low. Ex20insC and ExII17delA mutations of BRCA1 gene were identified in MSI-positive samples from HNPCC families. In the present study one Ex20insC mutation and two ExII17delA mutations were detected only in MSI-high samples. Genetic alterations seem to be a risk factor of colorectal cancer in subjects belonging to HNPCC families with high incidence of this cancer. The lack of detectable germ-line mutations in most cases suggests that there are probably additional, as yet unidentified genes predisposing to this disease.
authors.affiliation: Laboratory of Molecular Genetics, Department of Pathology, Institute of Polish Mother's Memorial Hospital, Lódz. smolbea@wp.pl
authors.forename: Hanna
authors.initials: H
authors.lastname: Romanowicz-Makowska
authors.forename: Beata
authors.initials: B
authors.lastname: Smolarz
authors.forename: Ewa
authors.initials: E
authors.lastname: Langner
authors.forename: Elźbieta
authors.initials: E
authors.lastname: Kozłowska
authors.forename: Andrzej
authors.initials: A
authors.lastname: Kulig
authors.forename: Adam
authors.initials: A
authors.lastname: Dziki
mesh_terms: D000230:Adenocarcinoma / Q000097:blood / Q000235:genetics* / Q000473:pathology; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000097:blood / Q000235:genetics* / Q000473:pathology; D017931:DNA Primers / Q000737:chemistry; D004273:DNA, Neoplasm / Q000097:blood; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D044767:Ubiquitin-Protein Ligases
chemical_list: D002352:Carrier Proteins; D017931:DNA Primers; D004273:DNA, Neoplasm; C111164:BRAP protein, human; D044767:Ubiquitin-Protein Ligases