Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography.

ABSTRACT: Germline mutations in tumor suppressor genes, or less frequently oncogenes, have been identified in up to 19 familial cancer syndromes including Li-Fraumeni syndrome, familial paraganglioma, familial adenomatous polyposis coli and breast and ovarian cancers. Multiple genes have been associated with some syndromes as approximately 26 genes have been linked to the development of these familial cancers. With this increased knowledge of the molecular determinants of familial cancer comes an equal expectation for efficient genetic screening programs. We have trialled denaturing high-performance liquid chromatography (dHPLC) as a tool for rapid germline mutation scanning of genes implicated in three familial cancer syndromes -- Cowden syndrome (PTEN mutation), multiple endocrine neoplasia type 2

SUBMITTER: Marsh DJ 

PROVIDER: S-EPMC1505599 | biostudies-literature | 2001 May-Jun

REPOSITORIES: biostudies-literature