PMC:1852721 / 40734-42049 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/1852721","sourcedb":"PMC","sourceid":"1852721","source_url":"https://www.ncbi.nlm.nih.gov/pmc/1852721","text":"In several instances, the gene mutant in familial cancer syndromes has been found to undergo somatic mutation to cause sporadic cancer of the type featured in the familial cancer syndrome. The APC gene (MIM +175100) mutant in adenomatous polyposis coli is importantly involved in sporadic colorectal cancer, and somatic mutations in APC have been found also in sporadic gastric cancer (MIM +175100.0010), sporadic hepatoblastoma (MIM +175100.0024), and other sporadic cancers. The VHL gene (MIM *608537) is mutant in von Hippel-Lindau syndrome (MIM #193300), which has renal cancer, pheochromocytoma, and cerebellar hemangioblastoma as components; it is implicated also in sporadic cases of these three neoplasms. Germline mutations in the TP53 gene (MIM +191170), somatic mutations of which have been identified in a variety of cancers, are the basis for one form of the Li-Fraumeni family cancer syndrome (LFS1 [MIM #151623]) that combines malignancies of a variety of tissue types, most often soft-tissue sarcomas, osteosarcomas, and breast cancer. (Li-Fraumeni syndrome is genetically heterogeneous; in addition to the LFS1 form caused by mutations in TP53, another form, LFS2 [MIM #609265], is caused by mutations in the CHEK2 gene [MIM *604373], and a third form, LFS3 [MIM %609266], maps to a locus on 1q23.)","tracks":[]}