[Genetics analysis of microsatellite instability in patients from hereditary nonpolyposis colorectal cancer (HNPCC) families].
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.
Smolarz
Beata
B
Instytut Centrum Zdrowia Matki Polki w Lodzi, Pracownia Biologii Molekulamej, Zakład Patomorfologii Klinicznej.
Langner
Ewa
E
Romanowicz-Makowska
Hanna
H
Kozłowska
Elzbieta
E
Kulig
Andrzej
A
Dziki
Adam
A
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
D005819:Genetic Markers