Gene Review:
MSH6 - mutS homolog 6
Homo sapiens
Synonyms:
DNA mismatch repair protein Msh6, G/T mismatch-binding protein, GTBP, GTMBP, HNPCC5, ...
Prior,
Shen,
Emanuelsson,
Bocker,
Breuning,
Fodor,
Rennert,
Bennett,
Dietmaier,
Kumar,
Rozek,
Hacia,
Ishikawa,
Manavis,
Gruber,
Schadendorf,
Lage,
van Os,
Lynch,
Morreau,
Fearon,
Kaina,
Hendriks,
Hunt,
MacSweeney,
Pick,
Suthers,
Rüschoff,
Hegde,
Imai,
Holinski-Feder,
Wagner,
Inoue,
Ruszkiewicz,
Göransson,
Lipkin,
Hofstädter,
Blazo,
Brockhoff,
Chong,
Kern,
Wallinger,
Dietel,
Collins,
Shin,
Greenson,
Gomez,
Chen,
Yang,
Richards,
Rudzki,
Grönberg,
Christmann,
Jagmohan-Changur,
Müller-Koch,
Fishel,
Scott,
Moore,
Pritchard-Jones,
Ausems,
Wijnen,
Bröcker-Vriends,
Kokoris,
Golovleva,
Vasen,
Cederquist,
Tops,
van Puijenbroek,
van der Klift,
Rahman,
Mansour,
- Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer. Truninger, K., Menigatti, M., Luz, J., Russell, A., Haider, R., Gebbers, J.O., Bannwart, F., Yurtsever, H., Neuweiler, J., Riehle, H.M., Cattaruzza, M.S., Heinimann, K., Schär, P., Jiricny, J., Marra, G. Gastroenterology (2005)
- Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history. Buttin, B.M., Powell, M.A., Mutch, D.G., Babb, S.A., Huettner, P.C., Edmonston, T.B., Herzog, T.J., Rader, J.S., Gibb, R.K., Whelan, A.J., Goodfellow, P.J. Am. J. Hum. Genet. (2004)
- Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. Berends, M.J., Wu, Y., Sijmons, R.H., Mensink, R.G., van der Sluis, T., Hordijk-Hos, J.M., de Vries, E.G., Hollema, H., Karrenbeld, A., Buys, C.H., van der Zee, A.G., Hofstra, R.M., Kleibeuker, J.H. Am. J. Hum. Genet. (2002)
- MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer. Huang, J., Kuismanen, S.A., Liu, T., Chadwick, R.B., Johnson, C.K., Stevens, M.W., Richards, S.K., Meek, J.E., Gao, X., Wright, F.A., Mecklin, J.P., Järvinen, H.J., Grönberg, H., Bisgaard, M.L., Lindblom, A., Peltomäki, P. Cancer Res. (2001)
- 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)
- Cofactor dynamics and sufficiency in estrogen receptor-regulated transcription. Shang, Y., Hu, X., DiRenzo, J., Lazar, M.A., Brown, M. Cell (2000)
- HNPCC-like cancer predisposition in mice through simultaneous loss of Msh3 and Msh6 mismatch-repair protein functions. de Wind, N., Dekker, M., Claij, N., Jansen, L., van Klink, Y., Radman, M., Riggins, G., van der Valk, M., van't Wout, K., te Riele, H. Nat. Genet. (1999)
- Familial endometrial cancer in female carriers of MSH6 germline mutations. Wijnen, J., de Leeuw, W., Vasen, H., van der Klift, H., Møller, P., Stormorken, A., Meijers-Heijboer, H., Lindhout, D., Menko, F., Vossen, S., Möslein, G., Tops, C., Bröcker-Vriends, A., Wu, Y., Hofstra, R., Sijmons, R., Cornelisse, C., Morreau, H., Fodde, R. Nat. Genet. (1999)
- Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Miyaki, M., Konishi, M., Tanaka, K., Kikuchi-Yanoshita, R., Muraoka, M., Yasuno, M., Igari, T., Koike, M., Chiba, M., Mori, T. Nat. Genet. (1997)
- Induction of two DNA mismatch repair proteins, MSH2 and MSH6, in differentiated human neuroblastoma SH-SY5Y cells exposed to doxorubicin. Belloni, M., Uberti, D., Rizzini, C., Jiricny, J., Memo, M. J. Neurochem. (1999)
- Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations. Scott, R.H., Mansour, S., Pritchard-Jones, K., Kumar, D., MacSweeney, F., Rahman, N. Nature clinical practice. Oncology (2007)
- Aspirin suppresses the mutator phenotype associated with hereditary nonpolyposis colorectal cancer by genetic selection. Rüschoff, J., Wallinger, S., Dietmaier, W., Bocker, T., Brockhoff, G., Hofstädter, F., Fishel, R. Proc. Natl. Acad. Sci. U.S.A. (1998)
- Expression of DNA repair proteins hMSH2, hMSH6, hMLH1, O6-methylguanine-DNA methyltransferase and N-methylpurine-DNA glycosylase in melanoma cells with acquired drug resistance. Lage, H., Christmann, M., Kern, M.A., Dietel, M., Pick, M., Kaina, B., Schadendorf, D. Int. J. Cancer (1999)
- Immunohistochemical analysis of DNA mismatch repair protein and O6-methylguanine-DNA methyltransferase in melanoma metastases in relation to clinical response to DTIC-based chemotherapy. Ma, S., Egyházi, S., Ringborg, U., Hansson, J. Oncol. Rep. (2002)
- MSH6 mutations arise in glioblastomas during temozolomide therapy and mediate temozolomide resistance. Yip, S., Miao, J., Cahill, D.P., Iafrate, A.J., Aldape, K., Nutt, C.L., Louis, D.N. Clin. Cancer Res. (2009)
- Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair. Risinger, J.I., Umar, A., Boyd, J., Berchuck, A., Kunkel, T.A., Barrett, J.C. Nat. Genet. (1996)
- 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)
- Role of MutSalpha in the recognition of iododeoxyuridine in DNA. Berry, S.E., Loh, T., Yan, T., Kinsella, T.J. Cancer Res. (2003)
- HMSH6 alterations in patients with microsatellite instability-low colorectal cancer. Parc, Y.R., Halling, K.C., Wang, L., Christensen, E.R., Cunningham, J.M., French, A.J., Burgart, L.J., Price-Troska, T.L., Roche, P.C., Thibodeau, S.N. Cancer Res. (2000)
- 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)
- Sessile serrated adenomas with low- and high-grade dysplasia and early carcinomas: an immunohistochemical study of serrated lesions "caught in the act". Sheridan, T.B., Fenton, H., Lewin, M.R., Burkart, A.L., Iacobuzio-Donahue, C.A., Frankel, W.L., Montgomery, E. Am. J. Clin. Pathol. (2006)
- Correction of hypermutability, N-methyl-N'-nitro-N-nitrosoguanidine resistance, and defective DNA mismatch repair by introducing chromosome 2 into human tumor cells with mutations in MSH2 and MSH6. Umar, A., Koi, M., Risinger, J.I., Glaab, W.E., Tindall, K.R., Kolodner, R.D., Boland, C.R., Barrett, J.C., Kunkel, T.A. Cancer Res. (1997)
- Nuclear translocation of mismatch repair proteins MSH2 and MSH6 as a response of cells to alkylating agents. Christmann, M., Kaina, B. J. Biol. Chem. (2000)
- Phosphorylation of mismatch repair proteins MSH2 and MSH6 affecting MutSalpha mismatch-binding activity. Christmann, M., Tomicic, M.T., Kaina, B. Nucleic Acids Res. (2002)
- 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)
- The mismatch DNA repair heterodimer, hMSH2/6, regulates BLM helicase. Yang, Q., Zhang, R., Wang, X.W., Linke, S.P., Sengupta, S., Hickson, I.D., Pedrazzi, G., Perrera, C., Stagljar, I., Littman, S.J., Modrich, P., Harris, C.C. Oncogene (2004)
- Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding. Cyr, J.L., Heinen, C.D. J. Biol. Chem. (2008)
- Mismatch repair deficiency associated with overexpression of the MSH3 gene. Marra, G., Iaccarino, I., Lettieri, T., Roscilli, G., Delmastro, P., Jiricny, J. Proc. Natl. Acad. Sci. U.S.A. (1998)
- Differences in the spectrum of spontaneous mutations in the hprt gene between tumor cells of the microsatellite mutator phenotype. Malkhosyan, S., McCarty, A., Sawai, H., Perucho, M. Mutat. Res. (1996)
- hMSH3 and hMSH6 interact with PCNA and colocalize with it to replication foci. Kleczkowska, H.E., Marra, G., Lettieri, T., Jiricny, J. Genes Dev. (2001)
- Bcl2 Impedes DNA Mismatch Repair by Directly Regulating the hMSH2-hMSH6 Heterodimeric Complex. Hou, Y., Gao, F., Wang, Q., Zhao, J., Flagg, T., Zhang, Y., Deng, X. J. Biol. Chem. (2007)
- hMSH2 and hMSH6 play distinct roles in mismatch binding and contribute differently to the ATPase activity of hMutSalpha. Iaccarino, I., Marra, G., Palombo, F., Jiricny, J. EMBO J. (1998)
- Microsatellite instability and suppressed DNA repair enzyme expression in rheumatoid arthritis. Lee, S.H., Chang, D.K., Goel, A., Boland, C.R., Bugbee, W., Boyle, D.L., Firestein, G.S. J. Immunol. (2003)
- Epigenetic regulation of the MGMT and hMSH6 DNA repair genes in cells resistant to methylating agents. Bearzatto, A., Szadkowski, M., Macpherson, P., Jiricny, J., Karran, P. Cancer Res. (2000)
- Frequent loss of hMLH1 by promoter hypermethylation leads to microsatellite instability in adenomatous polyps of patients with a single first-degree member affected by colon cancer. Ricciardiello, L., Goel, A., Mantovani, V., Fiorini, T., Fossi, S., Chang, D.K., Lunedei, V., Pozzato, P., Zagari, R.M., De Luca, L., Fuccio, L., Martinelli, G.N., Roda, E., Boland, C.R., Bazzoli, F. Cancer Res. (2003)
- Mutations of the human MUT S homologue 6 gene in ampullary carcinoma and gastric cancer. Imai, Y., Inoue, T., Ishikawa, T. Int. J. Cancer (1998)
- Effect of exogenous MSH6 and POLD1 expression on the mutation rate of the HPRT locus in a human colon cancer cell line with mutator phenotype, DLD-1. Yabuta, T., Shinmura, K., Yamane, A., Yamaguchi, S., Takenoshita, S., Yokota, J. Int. J. Oncol. (2004)
- Correlation of mismatch repair genes immunohistochemistry and microsatellite instability status in HNPCC-associated tumours. Ruszkiewicz, A., Bennett, G., Moore, J., Manavis, J., Rudzki, B., Shen, L., Suthers, G. Pathology. (2002)
- Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). Hendriks, Y.M., Jagmohan-Changur, S., van der Klift, H.M., Morreau, H., van Puijenbroek, M., Tops, C., van Os, T., Wagner, A., Ausems, M.G., Gomez, E., Breuning, M.H., Bröcker-Vriends, A.H., Vasen, H.F., Wijnen, J.T. Gastroenterology (2006)
- Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium? Charames, G.S., Millar, A.L., Pal, T., Narod, S., Bapat, B. Hum. Genet. (2000)
- Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6. Hegde, M., Blazo, M., Chong, B., Prior, T., Richards, C. The Journal of molecular diagnostics : JMD. (2005)
- Highly elevated ultraviolet-induced mutation frequency in isolated Chinese hamster cell lines defective in nucleotide excision repair and mismatch repair proteins. Nara, K., Nagashima, F., Yasui, A. Cancer Res. (2001)