Genetic testing for hereditary nonpolyposis colorectal cancer (HNPCC).
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer syndrome that confers an elevated risk of early-onset colorectal cancer (CRC) and increased lifetime risk for other cancers of the endometrium, stomach, small intestine, hepatobiliary system, kidney, ureter, and ovary. HNPCC accounts for up to 5% of all CRC, making it the most common hereditary colorectal cancer syndrome. Germline mutations in methyl-directed mismatch repair (MMR) genes give rise to microsatellite instability (MSI) in tumor DNA. HNPCC is most often associated with mutations in the MLH1 gene on 3p21, the MSH2 gene on 2p21, and to a lesser extent MSH6 on 2p16. This unit presents a comprehensive molecular and genetic screening strategy for HNPCC mutations in the MLH1, MSH2, and MSH6 genes, including analysis of MSI, mutation scanning by denaturing high-pressure liquid chromatography (DHPLC), and DNA sequencing analysis.
Emory University, Atlanta, Georgia, USA.
Madhuri R
MR
Hegde
Benjamin B
BB
Roa
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis* / Q000235:genetics; D053843:DNA Mismatch Repair; D004268:DNA-Binding Proteins / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D018095:Germ-Line Mutation; D006801:Humans; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D015203:Reproducibility of Results
D048868:Adaptor Proteins, Signal Transducing; D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; C501486:MLH1 protein, human; D009687:Nuclear Proteins; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein