INTRON SPLICE ACCEPTOR SITE SEQUENCE VARIATION IN THE HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER GENE HMSH2

被引：16

作者：

HALL, NR

TAYLOR, GR

FINAN, PJ

KOLODNER, RD

BODMER, WF

COTTRELL, SE

FRAYLING, I

BISHOP, DT

机构：

[1] ST JAMES UNIV HOSP,IMPERIAL CANC RES FUND,GENET EPIDEMIOL LAB,LEEDS LS9 7TF,W YORKSHIRE,ENGLAND

[2] GEN INFIRM,DEPT SURG,LEEDS LS1 3EX,W YORKSHIRE,ENGLAND

[3] ST JAMES UNIV HOSP,REG DNA LAB,LEEDS LS9 7TF,W YORKSHIRE,ENGLAND

[4] HARVARD UNIV,SCH MED,DANA FARBER CANC INST,DIV CELL & MOLEC BIOL,BOSTON,MA 02115

[5] IMPERIAL CANC RES FUND,CANC GENET LAB,LONDON WC2A 3PX,ENGLAND

[6] ST MARKS HOSP,IMPERIAL CANC RES FUND,COLORECTAL CANC UNIT,LONDON EC1V 2PS,ENGLAND

来源：

EUROPEAN JOURNAL OF CANCER | 1994年 / 30A卷 / 10期

关键词：

COLORECTAL CANCER; DNA MUTATION DETECTION; GENETIC SUSCEPTIBILITY; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; POLYMORPHISM; SPLICE SITE;

D O I：

10.1016/0959-8049(94)00326-Z

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Common but weakly penetrant mutations of certain genes may confer an increased susceptibility to colorectal cancer and account for a proportion of 'sporadic' cases. We analysed DNA from 111 colorectal cancer cases and 114 controls for a specific candidate sequence variation in the hereditary non-polyposis colorectal cancer gene hMSH2. The variant sequence was found in a quarter of individuals, and there was no difference between cancer cases and controls, according to age of development of cancer or presence of family history. It thus appears that this particular sequence variation is a polymorphism rather than a mutation which increases cancer susceptibility.

引用

页码：1550 / 1552

页数：3

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