MUTATIONS OF 2 PMS HOMOLOGS IN HEREDITARY NONPOLYPOSIS COLON-CANCER

被引：1371

作者：

NICOLAIDES, NC

PAPADOPOULOS, N

LIU, B

WEI, YF

CARTER, KC

RUBEN, SM

ROSEN, CA

HASELTINE, WA

FLEISCHMANN, RD

FRASER, CM

ADAMS, MD

VENTER, JC

DUNLOP, MG

HAMILTON, SR

PETERSEN, GM

DELACHAPELLE, A

VOGELSTEIN, B

KINZLER, KW

机构：

[1] JOHNS HOPKINS ONCOL CTR,BALTIMORE,MD 21231

[2] HUMAN GENOME SCI INC,ROCKVILLE,MD 20850

[3] INST GENOM RES,GAITHERSBURG,MD 20878

[4] WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND

[5] JOHNS HOPKINS UNIV,SCH MED,DEPT PATHOL,BALTIMORE,MD 21205

[6] JOHNS HOPKINS UNIV,SCH MED,DEPT ONCOL,BALTIMORE,MD 21205

[7] JOHNS HOPKINS UNIV,SCH HYG & PUBL HLTH,DEPT EPIDEMIOL,BALTIMORE,MD 21205

[8] UNIV HELSINKI,DEPT MED GENET,SF-00290 HELSINKI,FINLAND

来源：

NATURE | 1994年 / 371卷 / 6492期

关键词：

D O I：

10.1038/371075a0

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

HEREDITARY nonpolyposis colorectal cancer (HNPCC) is one of man's commonest hereditary diseases(1). Several studies have implicated a defect in DNA mismatch repair in the pathogenesis of this disease(2-8). In particular, hMSH2 and hMLH1 homologues of the bacterial DNA mismatch repair genes mutS and mutL, respectively, were shown to be mutated in a subset of HNPCC cases(9-16). Here we report the nucleotide sequence, chromosome localization and mutational analysis of hPMS1 and hPMS2, two additional homologues of the prokaryotic mutL gene. Both hPMS1 and hPMS2 were found to be mutated in the germline of HNPCC patients. This doubles the number of genes implicated in HNPCC and may help explain the relatively high incidence of this disease.

引用

页码：75 / 80

页数：6

共 29 条

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