MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer.

@article{Hitchins2005MLH1GE,
  title={MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer.},
  author={Megan P. Hitchins and Rachel Williams and Kayfong Cheong and Nimita Halani and Vita A P Lin and Deborah Packham and Sue Ku and Andrew D. Buckle and Nicholas Hawkins and John Burn and Steven Gallinger and Jack Goldblatt and Judy Kirk and Ian Tomlinson and Rodney Scott and Allan Spigelman and Catherine Suter and David T. Martin and Graeme Suthers and Robyn C Ward},
  journal={Gastroenterology},
  year={2005},
  volume={129 5},
  pages={1392-9}
}
BACKGROUND & AIMS Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by heterozygous germline sequence mutations of DNA mismatch repair genes, most frequently MLH1 or MSH2. A novel molecular mechanism for HNPCC has recently been suggested by the finding of individuals with soma-wide monoallelic hypermethylation of the MLH1 gene promoter. In this study, we determined the frequency and role of germline epimutations of MLH1 in HNPCC. METHODS A cohort of 160 probands from HNPCC families… CONTINUE READING
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