Microsatellite instability and DNA mismatch repair in human cancer

被引:86
作者
Karran, P
机构
[1] Imperial Cancer Research Fund, Clare Hall Laboratories, South Mimms, Hertfordshire
关键词
DNA repair; mutator phenotype; HNPCC;
D O I
10.1006/scbi.1996.0003
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
A form of genome instability in human tumours is associated with defects in a DNA mismatch repair pathway that normally corrects replication errors. The instability is observed as highly polymorphic mono- and dinucleotide microsatellites. Alterations in microsatellite length are due to accumulated frameshift mutations that arise because of uncorrected misalignments between template and daughter DNA strands during replication. Loss of mismatch repair is associated with some familial cancers, occurs at an early stage in tumour development and confers a general mutator phenotype. The latter may accelerate the accumulation of mutations in critical target genes during progression to malignancy. Biochemical analysis is providing insights into the mechanisms of mismatch repair.
引用
收藏
页码:15 / 24
页数:10
相关论文
共 72 条
[31]   A HUMAN 200-KDA PROTEIN BINDS SELECTIVELY TO DNA FRAGMENTS CONTAINING G.T MISMATCHES [J].
JIRICNY, J ;
HUGHES, M ;
CORMAN, N ;
RUDKIN, BB .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (23) :8860-8864
[32]   DNA-DAMAGE TOLERANCE, MISMATCH REPAIR AND GENOME INSTABILITY [J].
KARRAN, P ;
BIGNAMI, M .
BIOESSAYS, 1994, 16 (11) :833-839
[33]   AN ALKYLATION-TOLERANT, MUTATOR HUMAN CELL-LINE IS DEFICIENT IN STRAND-SPECIFIC MISMATCH REPAIR [J].
KAT, A ;
THILLY, WG ;
FANG, WH ;
LONGLEY, MJ ;
LI, GM ;
MODRICH, P .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1993, 90 (14) :6424-6428
[34]  
KOI M, 1994, CANCER RES, V54, P4308
[35]   MUTATIONS OF A MUTS HOMOLOG IN HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER [J].
LEACH, FS ;
NICOLAIDES, NC ;
PAPADOPOULOS, N ;
LIU, B ;
JEN, J ;
PARSONS, R ;
PELTOMAKI, P ;
SISTONEN, P ;
AALTONEN, LA ;
NYSTROMLAHTI, M ;
GUAN, XY ;
ZHANG, J ;
MELTZER, PS ;
YU, JW ;
KAO, FT ;
CHEN, DJ ;
CEROSALETTI, KM ;
FOURNIER, REK ;
TODD, S ;
LEWIS, T ;
LEACH, RJ ;
NAYLOR, SL ;
WEISSENBACH, J ;
MECKLIN, JP ;
JARVINEN, H ;
PETERSEN, GM ;
HAMILTON, SR ;
GREEN, J ;
JASS, J ;
WATSON, P ;
LYNCH, HT ;
TRENT, JM ;
DELACHAPELLE, A ;
KINZLER, KW ;
VOGELSTEIN, B .
CELL, 1993, 75 (06) :1215-1225
[36]   HIGH-FREQUENCIES OF SHORT FRAMESHIFTS IN POLY-CA/TG TANDEM REPEATS BORNE BY BACTERIOPHAGE-M13 IN ESCHERICHIA-COLI K-12 [J].
LEVINSON, G ;
GUTMAN, GA .
NUCLEIC ACIDS RESEARCH, 1987, 15 (13) :5323-5338
[37]   RESTORATION OF MISMATCH REPAIR TO NUCLEAR EXTRACTS OF H6 COLORECTAL TUMOR-CELLS BY A HETERODIMER OF HUMAN MUTL HOMOLOGS [J].
LI, GM ;
MODRICH, P .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1995, 92 (06) :1950-1954
[38]   GENETIC-MAPPING OF A 2ND LOCUS PREDISPOSING TO HEREDITARY NONPOLYPOSIS COLON-CANCER [J].
LINDBLOM, A ;
TANNERGARD, P ;
WERELIUS, B ;
NORDENSKJOLD, M .
NATURE GENETICS, 1993, 5 (03) :279-282
[39]   MISMATCH REPAIR GENE DEFECTS IN SPORADIC COLORECTAL CANCERS WITH MICROSATELLITE INSTABILITY [J].
LIU, B ;
NICOLAIDES, NC ;
MARKOWITZ, S ;
WILLSON, JKV ;
PARSONS, RE ;
JEN, J ;
PAPADOPOLOUS, N ;
PELTOMAKI, P ;
DELACHAPELLE, A ;
HAMILTON, SR ;
KINZLER, KW ;
VOGELSTEIN, B .
NATURE GENETICS, 1995, 9 (01) :48-55
[40]  
LOEB LA, 1994, CANCER RES, V54, P5059