Mutations of the APC(Adenomatous Polyposis Coli) Gene in FAP(Familial Polyposis Coli) Patients and in Sporadic Colorectal Tumors

Yusuke Nakamura; Isamu Nishisho; Yasuo Miyoshi; Yoshio Miki; Hiroshi Ando; Akira Horii; Kenneth W. Kinzler; Bert Vogelstein

doi:10.1620/tjem.168.141

Mutations of the APC(Adenomatous Polyposis Coli) Gene in FAP(Familial Polyposis Coli) Patients and in Sporadic Colorectal Tumors

Yusuke Nakamura, Isamu Nishisho, Yasuo Miyoshi, Yoshio Miki, Hiroshi Ando, Akira Horii, Kenneth W. Kinzler, Bert Vogelstein

Research output: Contribution to journal › Article › peer-review

27 Scopus citations

Abstract

We have isolated several genes on chromosome 5q21 region tightly linked to hereditary familial polyposis coli (FAP) and Gardner's syndrome (GS). Two of these genes (MCC and APC) were found to be somatically altered by point mutation, deletion or insertion in tumors of sporadic colorectal cancer patients. One (APO) of them was also found mutations in the germ line of both APC and GS patients. The identification of these genes has significant implications for understanding the pathogenesis of colorectal neoplasia and for the diagnosis and counseling of individuals with inherited predispositions to colorectal cancer.

Original language	English (US)
Pages (from-to)	141-147
Number of pages	7
Journal	Tohoku Journal of Experimental Medicine
Volume	168
Issue number	2
DOIs	https://doi.org/10.1620/tjem.168.141
State	Published - 1992

Keywords

Gardner's syndrome (GS)
adenomatous polyposis coli (APC) gene
chromosome 5q21
familial polyposis coli (FAP)
mutation

ASJC Scopus subject areas

General Biochemistry, Genetics and Molecular Biology

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10.1620/tjem.168.141

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title = "Mutations of the APC(Adenomatous Polyposis Coli) Gene in FAP(Familial Polyposis Coli) Patients and in Sporadic Colorectal Tumors",

abstract = "We have isolated several genes on chromosome 5q21 region tightly linked to hereditary familial polyposis coli (FAP) and Gardner's syndrome (GS). Two of these genes (MCC and APC) were found to be somatically altered by point mutation, deletion or insertion in tumors of sporadic colorectal cancer patients. One (APO) of them was also found mutations in the germ line of both APC and GS patients. The identification of these genes has significant implications for understanding the pathogenesis of colorectal neoplasia and for the diagnosis and counseling of individuals with inherited predispositions to colorectal cancer.",

keywords = "Gardner's syndrome (GS), adenomatous polyposis coli (APC) gene, chromosome 5q21, familial polyposis coli (FAP), mutation",

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AU - Nakamura, Yusuke

AU - Nishisho, Isamu

AU - Miyoshi, Yasuo

AU - Miki, Yoshio

AU - Ando, Hiroshi

AU - Horii, Akira

AU - Kinzler, Kenneth W.

AU - Vogelstein, Bert

PY - 1992

Y1 - 1992

N2 - We have isolated several genes on chromosome 5q21 region tightly linked to hereditary familial polyposis coli (FAP) and Gardner's syndrome (GS). Two of these genes (MCC and APC) were found to be somatically altered by point mutation, deletion or insertion in tumors of sporadic colorectal cancer patients. One (APO) of them was also found mutations in the germ line of both APC and GS patients. The identification of these genes has significant implications for understanding the pathogenesis of colorectal neoplasia and for the diagnosis and counseling of individuals with inherited predispositions to colorectal cancer.

AB - We have isolated several genes on chromosome 5q21 region tightly linked to hereditary familial polyposis coli (FAP) and Gardner's syndrome (GS). Two of these genes (MCC and APC) were found to be somatically altered by point mutation, deletion or insertion in tumors of sporadic colorectal cancer patients. One (APO) of them was also found mutations in the germ line of both APC and GS patients. The identification of these genes has significant implications for understanding the pathogenesis of colorectal neoplasia and for the diagnosis and counseling of individuals with inherited predispositions to colorectal cancer.

KW - Gardner's syndrome (GS)

KW - adenomatous polyposis coli (APC) gene

KW - chromosome 5q21

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Mutations of the APC(Adenomatous Polyposis Coli) Gene in FAP(Familial Polyposis Coli) Patients and in Sporadic Colorectal Tumors

Abstract

Keywords

ASJC Scopus subject areas

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