Genes > MLH1 >

References

These sources were used to develop the Genetics Home Reference gene summary on the MLH1 gene.

Andersen SD, Liberti SE, Lützen A, Drost M, Bernstein I, Nilbert M, Dominguez M, Nyström M, Hansen TV, Christoffersen JW, Jäger AC, de Wind N, Nielsen FC, Tørring PM, Rasmussen LJ. Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. Hum Mutat. 2012 Dec;33(12):1647-55. doi: 10.1002/humu.22153. Epub 2012 Jul 23. PubMed citation
Bandipalliam P. Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations. Fam Cancer. 2005;4(4):323-33. Review. PubMed citation
Cohen MM Jr. Molecular dimensions of gastrointestinal tumors: some thoughts for digestion. Am J Med Genet A. 2003 Nov 1;122A(4):303-14. Review. PubMed citation
Dowty JG, Win AK, Buchanan DD, Lindor NM, Macrae FA, Clendenning M, Antill YC, Thibodeau SN, Casey G, Gallinger S, Marchand LL, Newcomb PA, Haile RW, Young GP, James PA, Giles GG, Gunawardena SR, Leggett BA, Gattas M, Boussioutas A, Ahnen DJ, Baron JA, Parry S, Goldblatt J, Young JP, Hopper JL, Jenkins MA. Cancer risks for MLH1 and MSH2 mutation carriers. Hum Mutat. 2013 Mar;34(3):490-7. doi: 10.1002/humu.22262. PubMed citation
Entrez Gene
Gene Review: Lynch Syndrome
Lebrun C, Olschwang S, Jeannin S, Vandenbos F, Sobol H, Frenay M. Turcot syndrome confirmed with molecular analysis. Eur J Neurol. 2007 Apr;14(4):470-2. PubMed citation
Mitchell RJ, Farrington SM, Dunlop MG, Campbell H. Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review. Am J Epidemiol. 2002 Nov 15;156(10):885-902. Review. PubMed citation
OMIM: MutL, E. COLI, HOMOLOG OF, 1
Pande M, Wei C, Chen J, Amos CI, Lynch PM, Lu KH, Lucio LA, Boyd-Rogers SG, Bannon SA, Mork ME, Frazier ML. Cancer spectrum in DNA mismatch repair gene mutation carriers: results from a hospital based Lynch syndrome registry. Fam Cancer. 2012 Sep;11(3):441-7. doi: 10.1007/s10689-012-9534-6. PubMed citation
Peltomäki P. Lynch syndrome genes. Fam Cancer. 2005;4(3):227-32. Review. PubMed citation
Raevaara TE, Korhonen MK, Lohi H, Hampel H, Lynch E, Lönnqvist KE, Holinski-Feder E, Sutter C, McKinnon W, Duraisamy S, Gerdes AM, Peltomäki P, Kohonen-Ccorish M, Mangold E, Macrae F, Greenblatt M, de la Chapelle A, Nyström M. Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. Gastroenterology. 2005 Aug;129(2):537-49. PubMed citation
South CD, Hampel H, Comeras I, Westman JA, Frankel WL, de la Chapelle A. The frequency of Muir-Torre syndrome among Lynch syndrome families. J Natl Cancer Inst. 2008 Feb 20;100(4):277-81. doi: 10.1093/jnci/djm291. Epub 2008 Feb 12. PubMed citation


		About Site Map Contact Us
	A service of the U.S. National Library of Medicine®
Home Conditions Genes Chromosomes Handbook Glossary Resources