Mutations of the adenomatous polyposis coli gene in familial polyposis coli patients and sporadic colorectal tumors.

摘要: We have isolated several genes in the chromosome 5q21 region tightly linked to hereditary familial polyposis coli (FAP) and Gardner's syndrome (GS). Two of these (MCC APC) were found be somatically altered by point mutation, deletion or insertion tumors sporadic colorectal cancer patients. One them (adenomatous coli; was also mutate germ-line both APC GS The identification has significant implications for understanding pathogenesis neoplasia diagnosis counseling individuals with inherited predispositions cancer. Furthermore, one colon carcinoma, we identified an interesting mechanism causing dysfunction gene. This gene disrupted a somatic long interspersed repetitive element (LINE-1 sequence: L1) into last exon. As insertional sequence contains 3' portion L1 consensus including poly(A) tract 8 bp target-site duplication observed, this is suspected caused retrotranscriptional sequences. first case disruption tumor suppressor movable genetic element.