DNA mismatch repair (MMR) deficiency is one of the best understood forms of genetic instability in colorectal cancer (CRC). CRC is routinely cured by 5-fluorouracil (5-FU)-based chemotherapy, with a prognostic effect and resistance to such therapy conferred by MMR status. In this study, we ...
Mutations at coding repeat sequences in mismatch repair-deficient human cancers: toward a new concept of target genes for instability. Cancer Res. 62, 2447–2454 (2002). CAS PubMed Google Scholar Jung, B. H. et al. Activin type 2 receptor restoration in MSI-H colon cancer suppresses ...
DNA mismatch repairMsh2Mlh1Hereditary non-polyposis colon cancerLynch syndromeGermline mutations in DNA mismatch repair (MMR) genes are the cause of hereditary non-polyposis colorectal cancer/Lynch syndrome (HNPCC/LS) one of the most common cancer predisposition syndromes, and defects in MMR are also...
et al. A quantitative multigene RT-PCR assay for prediction of recurrence in stage II colon cancer: selection of the genes in four large studies and results of the independent, prospectively designed QUASAR validation study [abstract]. J. Clin. Oncol. 27 (Suppl. 15S), a4000 (2009). Google...
Winters - 《Cancer Research》 被引量: 1140发表: 2003年 Neurofibromatosis and early onset of cancers in hMLH1-deficient children Hereditary nonpolyposis colon cancer is a common hereditary disorder caused by the germ-line mutations of DNA mismatch repair (MMR) genes, especially hMLH1... Q Wang,...
Defects in several genes encoding proteins involved in DNA repair or damage signalling, e.g. members of the RecQ helicase family, give rise to human segmental progeroid syndromes characterized by short telomeres and premature ageing or early onset of age-related disease such as cancer (reviewed in...
Hereditary non-polyposis colon cancer ( HNPCC ) is an autosomal dominant condition, caused by germline mutations in the mismatch repair genes, that presents with colorectal cancers at a young age, as well as extracolonic tumours. One of the causative mutations is the C1528T (Exon 13) mutation...
Inactivation of the DNA mismatch-repair machinery can drive tumorigenesis, as mutations in genes involved in cell growth and survival are not repaired. But does this mutator phenotype also mutate other repair genes to accelerate genomic instability and tumorigenesis? Sergei Malkhosyan and co-workers,...
Identification of DNA mismatch repair gene mutations in hereditary nonpolyposis colon cancer patients Hereditary nonpolyposis colorectal cancer (HNPCC) is a common autosomal dominant disease caused by germline mutations in DNA mismatch repair genes. The mut... Michael,C.,Luce,... - 《International Jo...
The genetic basis of cancer involves certain classes of genes, particularly oncogenes, tumor-suppressor genes, and DNA mismatch repair genes. Originally identified in bacteria and yeast, the human homologues of DNA mismatch repair genes have been implicated in the pathogenesis of the hereditary nonpol...