Gene Review:
MLH1 - mutL homolog 1
Homo sapiens
Synonyms:
COCA2, DNA mismatch repair protein Mlh1, FCC2, HNPCC, HNPCC2, ...
Vecchione,
Golemis,
Matsumoto,
Emanuelsson,
Stoter,
Sadoff,
Schepis,
Neri,
Fodor,
Rennert,
Marchese,
Acharya,
Hacia,
Rozek,
Laird,
Gruber,
van Kuijk,
Lynch,
Nasioulas,
Douglas,
De Paula,
Jones,
Cicchillitti,
Brunetti,
Fearon,
Ewing,
Kohonen-Corish,
D'Agnano,
Bellacosa,
Hunt,
Fishel,
Dinjens,
Holinski-Feder,
Edkins,
Byers,
van Staveren,
Schmutte,
Göransson,
Lipkin,
Lamandé,
Miceli,
Felsani,
Bateman,
Helleman,
Yeung,
Forrest,
Raza,
Ritstier,
Collins,
Shin,
Greenson,
Chen,
Yang,
Grönberg,
Shim,
Müller-Koch,
Albini,
van der Burg,
Citti,
Freddi,
Kokoris,
Bucci,
Genuardi,
Golovleva,
Cederquist,
Amendola,
Otway,
Riccio,
Berns,
- The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer. Lipkin, S.M., Rozek, L.S., Rennert, G., Yang, W., Chen, P.C., Hacia, J., Hunt, N., Shin, B., Fodor, S., Kokoris, M., Greenson, J.K., Fearon, E., Lynch, H., Collins, F., Gruber, S.B. Nat. Genet. (2004)
- Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. Wijnen, J.T., Vasen, H.F., Khan, P.M., Zwinderman, A.H., van der Klift, H., Mulder, A., Tops, C., Møller, P., Fodde, R. N. Engl. J. Med. (1998)
- Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation. Gallinger, S., Aronson, M., Shayan, K., Ratcliffe, E.M., Gerstle, J.T., Parkin, P.C., Rothenmund, H., Croitoru, M., Baumann, E., Durie, P.R., Weksberg, R., Pollett, A., Riddell, R.H., Ngan, B.Y., Cutz, E., Lagarde, A.E., Chan, H.S. Gastroenterology (2004)
- Analysis of hMLH1 missense mutations in East Asian patients with suspected hereditary nonpolyposis colorectal cancer. Fan, Y., Wang, W., Zhu, M., Zhou, J., Peng, J., Xu, L., Hua, Z., Gao, X., Wang, Y. Clin. Cancer Res. (2007)
- Effects of dietary intake and genetic factors on hypermethylation of the hMLH1 gene promoter in gastric cancer. Nan, H.M., Song, Y.J., Yun, H.Y., Park, J.S., Kim, H. World J. Gastroenterol. (2005)
- CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer. Weisenberger, D.J., Siegmund, K.D., Campan, M., Young, J., Long, T.I., Faasse, M.A., Kang, G.H., Widschwendter, M., Weener, D., Buchanan, D., Koh, H., Simms, L., Barker, M., Leggett, B., Levine, J., Kim, M., French, A.J., Thibodeau, S.N., Jass, J., Haile, R., Laird, P.W. Nat. Genet. (2006)
- Mediating mismatch repair. Jiricny, J. Nat. Genet. (2000)
- Cancer epigenetics comes of age. Jones, P.A., Laird, P.W. Nat. Genet. (1999)
- Role of the hMLH1 DNA mismatch repair protein in fluoropyrimidine-mediated cell death and cell cycle responses. Meyers, M., Wagner, M.W., Hwang, H.S., Kinsella, T.J., Boothman, D.A. Cancer Res. (2001)
- DNA mismatch repair-dependent response to fluoropyrimidine-generated damage. Meyers, M., Wagner, M.W., Mazurek, A., Schmutte, C., Fishel, R., Boothman, D.A. J. Biol. Chem. (2005)
- Mismatch repair and treatment resistance in ovarian cancer. Helleman, J., van Staveren, I.L., Dinjens, W.N., van Kuijk, P.F., Ritstier, K., Ewing, P.C., van der Burg, M.E., Stoter, G., Berns, E.M. BMC Cancer (2006)
- DNA mismatch repair genes in renal cell carcinoma. Deguchi, M., Shiina, H., Igawa, M., Kaneuchi, M., Nakajima, K., Dahiya, R. J. Urol. (2003)
- MLH1 promoter hypermethylation is associated with the microsatellite instability phenotype in sporadic endometrial carcinomas. Esteller, M., Levine, R., Baylin, S.B., Ellenson, L.H., Herman, J.G. Oncogene (1998)
- P14 methylation in human colon cancer is associated with microsatellite instability and wild-type p53. Shen, L., Kondo, Y., Hamilton, S.R., Rashid, A., Issa, J.P. Gastroenterology (2003)
- MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. Hitchins, M., Williams, R., Cheong, K., Halani, N., Lin, V.A., 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. Gastroenterology (2005)
- Extreme heterogeneity in the molecular events leading to the establishment of chiasmata during meiosis i in human oocytes. Lenzi, M.L., Smith, J., Snowden, T., Kim, M., Fishel, R., Poulos, B.K., Cohen, P.E. Am. J. Hum. Genet. (2005)
- Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations. Wu, Y., Berends, M.J., Mensink, R.G., Kempinga, C., Sijmons, R.H., van Der Zee, A.G., Hollema, H., Kleibeuker, J.H., Buys, C.H., Hofstra, R.M. Am. J. Hum. Genet. (1999)
- Defective expression of the DNA mismatch repair protein, MLH1, alters G2-M cell cycle checkpoint arrest following ionizing radiation. Davis, T.W., Wilson-Van Patten, C., Meyers, M., Kunugi, K.A., Cuthill, S., Reznikoff, C., Garces, C., Boland, C.R., Kinsella, T.J., Fishel, R., Boothman, D.A. Cancer Res. (1998)
- Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability. Bateman, J.F., Freddi, S., Lamandé, S.R., Byers, P., Nasioulas, S., Douglas, J., Otway, R., Kohonen-Corish, M., Edkins, E., Forrest, S. Hum. Mutat. (1999)
- Decreased expression of the DNA mismatch repair gene Mlh1 under hypoxic stress in mammalian cells. Mihaylova, V.T., Bindra, R.S., Yuan, J., Campisi, D., Narayanan, L., Jensen, R., Giordano, F., Johnson, R.S., Rockwell, S., Glazer, P.M. Mol. Cell. Biol. (2003)
- Role of MutSalpha in the recognition of iododeoxyuridine in DNA. Berry, S.E., Loh, T., Yan, T., Kinsella, T.J. Cancer Res. (2003)
- MSH4 acts in conjunction with MLH1 during mammalian meiosis. Santucci-Darmanin, S., Walpita, D., Lespinasse, F., Desnuelle, C., Ashley, T., Paquis-Flucklinger, V. FASEB J. (2000)
- The interaction of DNA mismatch repair proteins with human exonuclease I. Schmutte, C., Sadoff, M.M., Shim, K.S., Acharya, S., Fishel, R. J. Biol. Chem. (2001)
- The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. Guerrette, S., Acharya, S., Fishel, R. J. Biol. Chem. (1999)
- Molecular analysis of endometrial hyperplasia in HNPCC-suspicious patients may predict progression to endometrial carcinoma. Sutter, C., Dallenbach-Hellweg, G., Schmidt, D., Baehring, J., Bielau, S., von Knebel Doeberitz, M., Gebert, J. Int. J. Gynecol. Pathol. (2004)
- In vitro analysis of genomic instability triggered by BRCA1 missense mutations. Quaresima, B., Faniello, M.C., Baudi, F., Crugliano, T., Cuda, G., Costanzo, F., Venuta, S. Hum. Mutat. (2006)
- High resolution deletion mapping reveals frequent allelic losses at the DNA mismatch repair loci hMLH1 and hMSH3 in non-small cell lung cancer. Benachenhou, N., Guiral, S., Gorska-Flipot, I., Labuda, D., Sinnett, D. Int. J. Cancer (1998)
- Mismatch repair gene expression and genetic instability in testicular germ cell tumor. Velasco, A., Riquelme, E., Schultz, M., Wistuba, I.I., Villarroel, L., Pizarro, J., Berlin, A., Ittmann, M., Koh, M.S., Leach, F.S. Cancer Biol. Ther. (2004)
- Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair. Mohd, A.B., Palama, B., Nelson, S.E., Tomer, G., Nguyen, M., Huo, X., Buermeyer, A.B. DNA Repair (Amst.) (2006)
- Identification of hMutLbeta, a heterodimer of hMLH1 and hPMS1. Räschle, M., Marra, G., Nyström-Lahti, M., Schär, P., Jiricny, J. J. Biol. Chem. (1999)
- HNPCC mutations in the human DNA mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes. Jäger, A.C., Rasmussen, M., Bisgaard, H.C., Singh, K.K., Nielsen, F.C., Rasmussen, L.J. Oncogene (2001)
- HOXA5 regulates hMLH1 expression in breast cancer cells. Duriseti, S., Winnard, P.T., Mironchik, Y., Vesuna, F., Raman, A., Raman, V. Neoplasia (2006)
- Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair. Prolla, T.A., Baker, S.M., Harris, A.C., Tsao, J.L., Yao, X., Bronner, C.E., Zheng, B., Gordon, M., Reneker, J., Arnheim, N., Shibata, D., Bradley, A., Liskay, R.M. Nat. Genet. (1998)
- Epigenetic and genetic alterations in duodenal carcinomas are distinct from biliary and ampullary carcinomas. Kim, S.G., Chan, A.O., Wu, T.T., Issa, J.P., Hamilton, S.R., Rashid, A. Gastroenterology (2003)
- MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1. Bellacosa, A., Cicchillitti, L., Schepis, F., Riccio, A., Yeung, A.T., Matsumoto, Y., Golemis, E.A., Genuardi, M., Neri, G. Proc. Natl. Acad. Sci. U.S.A. (1999)
- ATM-mediated stabilization of hMutL DNA mismatch repair proteins augments p53 activation during DNA damage. Luo, Y., Lin, F.T., Lin, W.C. Mol. Cell. Biol. (2004)
- Tumor cell-specific BRCA1 and RASSF1A hypermethylation in serum, plasma, and peritoneal fluid from ovarian cancer patients. Ibanez de Caceres, I., Battagli, C., Esteller, M., Herman, J.G., Dulaimi, E., Edelson, M.I., Bergman, C., Ehya, H., Eisenberg, B.L., Cairns, P. Cancer Res. (2004)
- Characterization of the Interactome of the Human MutL Homologues MLH1, PMS1, and PMS2. Cannavo, E., Gerrits, B., Marra, G., Schlapbach, R., Jiricny, J. J. Biol. Chem. (2007)
- Reduced MLH1 expression after chemotherapy is an indicator for poor prognosis in esophageal cancers. Kishi, K., Doki, Y., Yano, M., Yasuda, T., Fujiwara, Y., Takiguchi, S., Kim, S., Higuchi, I., Monden, M. Clin. Cancer Res. (2003)
- A homozygous mutation in MSH6 causes Turcot syndrome. Hegde, M.R., Chong, B., Blazo, M.E., Chin, L.H., Ward, P.A., Chintagumpala, M.M., Kim, J.Y., Plon, S.E., Richards, C.S. Clin. Cancer Res. (2005)
- Myc down-regulation sensitizes melanoma cells to radiotherapy by inhibiting MLH1 and MSH2 mismatch repair proteins. Bucci, B., D'Agnano, I., Amendola, D., Citti, A., Raza, G.H., Miceli, R., De Paula, U., Marchese, R., Albini, S., Felsani, A., Brunetti, E., Vecchione, A. Clin. Cancer Res. (2005)
- Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden. Cederquist, K., Emanuelsson, M., Göransson, I., Holinski-Feder, E., Müller-Koch, Y., Golovleva, I., Grönberg, H. Int. J. Cancer (2004)