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The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype.
Kwok CT, Vogelaar IP, van Zelst-Stams WA, Mensenkamp AR, Ligtenberg MJ, Rapkins RW, Ward RL, Chun N, Ford JM, Ladabaum U, McKinnon WC, Greenblatt MS, Hitchins MP. Kwok CT, et al. Among authors: ward rl. Eur J Hum Genet. 2014 May;22(5):617-24. doi: 10.1038/ejhg.2013.200. Epub 2013 Oct 2. Eur J Hum Genet. 2014. PMID: 24084575 Free PMC article.
MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer.
Hitchins M, Williams R, Cheong K, Halani N, Lin VA, Packham D, Ku S, Buckle A, Hawkins N, Burn J, Gallinger S, Goldblatt J, Kirk J, Tomlinson I, Scott R, Spigelman A, Suter C, Martin D, Suthers G, Ward R. Hitchins M, et al. Gastroenterology. 2005 Nov;129(5):1392-9. doi: 10.1053/j.gastro.2005.09.003. Gastroenterology. 2005. PMID: 16285940
Inheritance of a cancer-associated MLH1 germ-line epimutation.
Hitchins MP, Wong JJ, Suthers G, Suter CM, Martin DI, Hawkins NJ, Ward RL. Hitchins MP, et al. Among authors: ward rl. N Engl J Med. 2007 Feb 15;356(7):697-705. doi: 10.1056/NEJMoa064522. N Engl J Med. 2007. PMID: 17301300 Free article.
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