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 Petersen, Stanley R. Hamilton, Mef C. Nilbert, Daniel B. Levy, Tracy M. Bryan, Antonette C. Preisinger, Kelly J. Smith, Li Kuo SuKenneth W. Kinzler, Bert Vogelstein

Research output: Contribution to journalArticlepeer-review

1534 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)665-669
Number of pages5
Issue number5020
StatePublished - 1991

ASJC Scopus subject areas

  • General


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