Detection of genetic alterations in hereditary colorectal cancer screening.
作者： Marta Pineda , Sara González , Conxi Lázaro , Ignacio Blanco , Gabriel Capellá
DOI: 10.1016/J.MRFMMM.2009.11.002
关键词:
摘要: There are two major hereditary colorectal cancer syndromes: Adenomatous Polyposis, secondary to APC germline alterations (FAP, Familial Polyposis) or MUTYH (MAP, associated Polyposis), and Lynch syndrome, with mutations in mismatch repair genes (MLH1, MSH2, MSH6 PMS2). The elucidation of their genetic basis has depicted an increasingly complex picture that lead the implementation diagnostic algorithms include both tumor profiling analyses. A variety techniques at DNA, RNA protein level used screen for molecular biopsies (microsatellite instability analysis, immunohistochemistry, BRAF-Val600Glu detection MLH1 promoter hypermethylation analysis) (point mutation screening, copy number assessment). Also functional tests more often characterize variants unknown significance. Methodological issues analyzed, as well used, discussed.
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