Mutations of Chromosome 5q21 Genes in FAP and Colorectal Cancer Patients

Isamu Nishisho; Yusuke Nakamura; Yasuo Miyoshi; Yoshio Miki; Hiroshi Ando; Akira Horii; Kumiko Koyama; Joji Utsunomiya; Shozo Baba; Philip Hedge; Alex Markham; Anne J. Krush; Gloria M. Petersen; Stanley R. Hamilton; Mef Nilbert; Daniel B. Levy; Tracy M. Bryan; Antonette C. Preisinger; K Smith; Li-Kuo Su; Kenneth W. Kinzler; Bert Vogelstein

doi:10.1126/science.1651563

Mutations of Chromosome 5q21 Genes in FAP and Colorectal Cancer Patients

Isamu Nishisho(The Cancer Institute Hospital), Yusuke Nakamura(Japanese Foundation For Cancer Research), Yasuo Miyoshi(Japanese Foundation For Cancer Research), Yoshio Miki(Japanese Foundation For Cancer Research), Hiroshi Ando(Japanese Foundation For Cancer Research), Akira Horii(Japanese Foundation For Cancer Research), Kumiko Koyama(Japanese Foundation For Cancer Research), Joji Utsunomiya(Hyogo Medical University), Shozo Baba(Hamamatsu University), Philip Hedge(AkzoNobel (Canada)), Alex Markham(AkzoNobel (Canada)), Anne J. Krush(Johns Hopkins University), Gloria M. Petersen(Johns Hopkins University), Stanley R. Hamilton(Johns Hopkins University), Mef Nilbert(Johns Hopkins University), Daniel B. Levy(Johns Hopkins University), Tracy M. Bryan(Johns Hopkins University), Antonette C. Preisinger(Johns Hopkins University), K Smith(Johns Hopkins University), Li-Kuo Su(Johns Hopkins University), Kenneth W. Kinzler(Johns Hopkins University), Bert Vogelstein(Johns Hopkins University)

Science

August 9, 1991

10.1126/science.1651563

Cited by 1,893

Abstract

Previous studies suggested that one or more genes on chromosome 5q21 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 5q21 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 5q21 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.

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