title: [Genetics analysis of microsatellite instability in patients from hereditary nonpolyposis colorectal cancer (HNPCC) families].
abstract: Microsatellite instability (MSI) is due to defective DNA mismatch repair and is characteristic of HNPCC tumours.
  
  
  OBJECTIVE
  The role of MSI in familial predisposition to colorectal cancer was investigated in this study by microsatellite analysis among familial cases.
  
  
  METHODS
  PCR-based microsatellite analysis was performed in blood obtained from 30 members from HNPCC families. Blood samples age matched healthy individuals (n = 28) served as control. MSI was studied at five loci containing single- or dinucleotide repeat sequences and mapping to different chromosomal locations: BAT-25 (at locus 4q12), BAT-26 (2p16), D2S123 (2p16-p21), D5S346 (5q21-q22) and D17S250 (17q11.2-q12).
  
  
  RESULTS
  MSI frequency was higher in member of HNPCC families (40%) than in control (10.7%) cases. Out of the 30 samples tested, 12 were found to be MSI positive, 9 MSI high and 3 MSI low.
  
  
  CONCLUSIONS
  The present study suggest that microsatellite instability seem to be a risk factor of colorectal cancer in subjects belonged to HNPCC families with high incidence of this cancer.
authors.affiliation: Instytut Centrum Zdrowia Matki Polki w Lodzi, Pracownia Biologii Molekulamej, Zakład Patomorfologii Klinicznej.
authors.forename: Beata
authors.initials: B
authors.lastname: Smolarz
authors.forename: Ewa
authors.initials: E
authors.lastname: Langner
authors.forename: Hanna
authors.initials: H
authors.lastname: Romanowicz-Makowska
authors.forename: Elzbieta
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 / Q000175:diagnosis* / Q000235:genetics* / Q000517:prevention & control; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis* / Q000235:genetics* / Q000517:prevention & control; D004252:DNA Mutational Analysis / Q000706:statistics & numerical data; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000706:statistics & numerical data; D006801:Humans; D053842:Microsatellite Instability
chemical_list: D005819:Genetic Markers