MUTATIONS OF CHROMOSOME-5Q21 GENES IN FAP AND COLORECTAL-CANCER PATIENTS

被引：1614

作者：

NISHISHO, I

NAKAMURA, Y

MIYOSHI, Y

MIKI, Y

ANDO, H

HORII, A

KOYAMA, K

UTSUNOMIYA, J

BABA, S

HEDGE, P

MARKHAM, A

KRUSH, AJ

PETERSEN, G

HAMILTON, SR

NILBERT, MC

LEVY, DB

BRYAN, TM

PREISINGER, AC

SMITH, KJ

SU, LK

KINZLER, KW

VOGELSTEIN, B

机构：

[1] JAPANESE FDN CANC RES,INST CANC,DEPT BIOCHEM,TOKYO 170,JAPAN

[2] HYOGO MED UNIV,DEPT SURG 2,NISHINOMIYA,HYOGO 663,JAPAN

[3] HAMAMATSU MED COLL,DEPT SURG 2,SHIZUOKA 43131,JAPAN

[4] ICI PLC,PHARMACEUT,MACCLESFIELD SK10 4TG,CHESHIRE,ENGLAND

[5] JOHNS HOPKINS UNIV,SCH MED,CTR MED GENET,DEPT MED,BALTIMORE,MD 21231

[6] JOHNS HOPKINS UNIV,SCH MED,CTR ONCOL,BALTIMORE,MD 21231

[7] JOHNS HOPKINS UNIV,SCH MED,DEPT PATHOL,BALTIMORE,MD 21231

[8] JOHNS HOPKINS UNIV,SCH MED,MOLEC GENET LAB,BALTIMORE,MD 21231

[9] JOHNS HOPKINS UNIV,SCH HYG,BALTIMORE,MD 21218

[10] JOHNS HOPKINS UNIV,SCH PUBL HLTH,BALTIMORE,MD 21218

来源：

SCIENCE | 1991年 / 253卷 / 5020期

关键词：

D O I：

10.1126/science.1651563

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：

Previous studies suggested that one or more genes on chromosome 5q2l are responsible for the inheritance of familial adenomatous polyposis (FAP) and Gardner's syndrome (GS), and contribute to tumor development in patients with noninherited forms of colorectal cancer. Two genes on 5q2l that are tightly linked to FAP (MCC and APC) were found to be somatically altered in tumors from sporadic colorectal cancer patients. One of the genes (APC) was also found to be altered by point mutation in the germ line of FAP and GS patients. These data suggest that more than one gene on chromosome 5q2l may contribute to colorectal neoplasia, and that mutations of the APC gene can cause both FAP and GS. The identification of these genes should aid in understanding the pathogenesis of colorectal neoplasia and in the diagnosis and counseling of patients with inherited predispositions to colorectal cancer.

引用

页码：665 / 669

页数：5

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