MSH2

Summary

Gene Symbol: MSH2
Description: mutS homolog 2
Alias: COCA1, FCC1, HNPCC, HNPCC1, LCFS2, DNA mismatch repair protein Msh2, hMSH2, mutS homolog 2, colon cancer, nonpolyposis type 1
Species: human
Products:     MSH2

Top Publications

  1. Song H, Ramus S, Quaye L, Dicioccio R, Tyrer J, Lomas E, et al. Common variants in mismatch repair genes and risk of invasive ovarian cancer. Carcinogenesis. 2006;27:2235-42 pubmed
    ..Germline mutations in MMR genes are associated with hereditary non-polyposis colorectal cancer (HNPCC)...
  2. Wu Q, Vasquez K. Human MLH1 protein participates in genomic damage checkpoint signaling in response to DNA interstrand crosslinks, while MSH2 functions in DNA repair. PLoS Genet. 2008;4:e1000189 pubmed publisher
    ..However, repair mechanisms for ICLs in the human genome are not clearly defined. Previously, we have shown that MSH2, the common subunit of the human MutSalpha and MutSbeta mismatch recognition complexes, plays a role in the error-..
  3. Felsberg J, Thon N, Eigenbrod S, Hentschel B, Sabel M, Westphal M, et al. Promoter methylation and expression of MGMT and the DNA mismatch repair genes MLH1, MSH2, MSH6 and PMS2 in paired primary and recurrent glioblastomas. Int J Cancer. 2011;129:659-70 pubmed publisher
    ..changes in the promoter methylation status and the expression of MGMT and the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 in pairs of primary and recurrent glioblastomas of 80 patients, including 64 patients treated with ..
  4. Shin Y, Heo S, Shin J, Hong S, Ku J, Yoo B, et al. Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families. Hum Mutat. 2004;24:351 pubmed
    Hereditary non-polyposis colorectal cancer (HNPCC), the most common hereditary colon cancer syndrome, is a dominant disorder caused by germline defects in mismatch repair (MMR) genes...
  5. Lynch H, Casey M, Snyder C, Bewtra C, Lynch J, Butts M, et al. Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management. Mol Oncol. 2009;3:97-137 pubmed publisher
    ..the hereditary breast-ovarian cancer syndrome, and mutations in mismatch repair genes, the most common of which are MSH2 and MLH1, which predispose to Lynch syndrome...
  6. Charbonnier F, Baert Desurmont S, Liang P, Di Fiore F, Martin C, Frerot S, et al. The 5' region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences. Hum Mutat. 2005;26:255-61 pubmed
    MSH2 rearrangements are involved in approximately 10% of hereditary non-polyposis colorectal cancer (HNPCC) families, and in most of the rearrangements, exon 1 is deleted...
  7. Zhao J, Jain A, Iyer R, Modrich P, Vasquez K. Mismatch repair and nucleotide excision repair proteins cooperate in the recognition of DNA interstrand crosslinks. Nucleic Acids Res. 2009;37:4420-9 pubmed publisher
    ..These data suggest that proteins from the MMR and NER pathways interact in the recognition of ICLs, and provide a mechanistic link by which proteins from multiple repair pathways contribute to ICL repair. ..
  8. Iyer R, Pohlhaus T, Chen S, Hura G, Dzantiev L, Beese L, et al. The MutSalpha-proliferating cell nuclear antigen interaction in human DNA mismatch repair. J Biol Chem. 2008;283:13310-9 pubmed publisher
    ....
  9. Ligtenberg M, Kuiper R, Chan T, Goossens M, Hebeda K, Voorendt M, et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. Nat Genet. 2009;41:112-7 pubmed publisher
    ..to colorectal and endometrial cancers owing to inactivating germline mutations in mismatch repair genes, including MSH2 (ref. 1)...
  10. Barnetson R, Tenesa A, Farrington S, Nicholl I, Cetnarskyj R, Porteous M, et al. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med. 2006;354:2751-63 pubmed
    ..The identification of mutations in germ-line DNA mismatch-repair genes at the time of diagnosis of colorectal cancer is important in the management of the disease...

Detail Information

Publications62

  1. Song H, Ramus S, Quaye L, Dicioccio R, Tyrer J, Lomas E, et al. Common variants in mismatch repair genes and risk of invasive ovarian cancer. Carcinogenesis. 2006;27:2235-42 pubmed
    ..Germline mutations in MMR genes are associated with hereditary non-polyposis colorectal cancer (HNPCC)...
  2. Wu Q, Vasquez K. Human MLH1 protein participates in genomic damage checkpoint signaling in response to DNA interstrand crosslinks, while MSH2 functions in DNA repair. PLoS Genet. 2008;4:e1000189 pubmed publisher
    ..However, repair mechanisms for ICLs in the human genome are not clearly defined. Previously, we have shown that MSH2, the common subunit of the human MutSalpha and MutSbeta mismatch recognition complexes, plays a role in the error-..
  3. Felsberg J, Thon N, Eigenbrod S, Hentschel B, Sabel M, Westphal M, et al. Promoter methylation and expression of MGMT and the DNA mismatch repair genes MLH1, MSH2, MSH6 and PMS2 in paired primary and recurrent glioblastomas. Int J Cancer. 2011;129:659-70 pubmed publisher
    ..changes in the promoter methylation status and the expression of MGMT and the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 in pairs of primary and recurrent glioblastomas of 80 patients, including 64 patients treated with ..
  4. Shin Y, Heo S, Shin J, Hong S, Ku J, Yoo B, et al. Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families. Hum Mutat. 2004;24:351 pubmed
    Hereditary non-polyposis colorectal cancer (HNPCC), the most common hereditary colon cancer syndrome, is a dominant disorder caused by germline defects in mismatch repair (MMR) genes...
  5. Lynch H, Casey M, Snyder C, Bewtra C, Lynch J, Butts M, et al. Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management. Mol Oncol. 2009;3:97-137 pubmed publisher
    ..the hereditary breast-ovarian cancer syndrome, and mutations in mismatch repair genes, the most common of which are MSH2 and MLH1, which predispose to Lynch syndrome...
  6. Charbonnier F, Baert Desurmont S, Liang P, Di Fiore F, Martin C, Frerot S, et al. The 5' region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences. Hum Mutat. 2005;26:255-61 pubmed
    MSH2 rearrangements are involved in approximately 10% of hereditary non-polyposis colorectal cancer (HNPCC) families, and in most of the rearrangements, exon 1 is deleted...
  7. Zhao J, Jain A, Iyer R, Modrich P, Vasquez K. Mismatch repair and nucleotide excision repair proteins cooperate in the recognition of DNA interstrand crosslinks. Nucleic Acids Res. 2009;37:4420-9 pubmed publisher
    ..These data suggest that proteins from the MMR and NER pathways interact in the recognition of ICLs, and provide a mechanistic link by which proteins from multiple repair pathways contribute to ICL repair. ..
  8. Iyer R, Pohlhaus T, Chen S, Hura G, Dzantiev L, Beese L, et al. The MutSalpha-proliferating cell nuclear antigen interaction in human DNA mismatch repair. J Biol Chem. 2008;283:13310-9 pubmed publisher
    ....
  9. Ligtenberg M, Kuiper R, Chan T, Goossens M, Hebeda K, Voorendt M, et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. Nat Genet. 2009;41:112-7 pubmed publisher
    ..to colorectal and endometrial cancers owing to inactivating germline mutations in mismatch repair genes, including MSH2 (ref. 1)...
  10. Barnetson R, Tenesa A, Farrington S, Nicholl I, Cetnarskyj R, Porteous M, et al. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med. 2006;354:2751-63 pubmed
    ..The identification of mutations in germ-line DNA mismatch-repair genes at the time of diagnosis of colorectal cancer is important in the management of the disease...
  11. Mastrocola A, Heinen C. Nuclear reorganization of DNA mismatch repair proteins in response to DNA damage. DNA Repair (Amst). 2010;9:120-33 pubmed publisher
    ..Using synchronized populations of HeLa cells we demonstrated that hMSH2, hMLH1 and PCNA localize to the chromatin during S-phase, and accumulate to a greater extent in cells treated with ..
  12. Stella A, Surdo N, Lastella P, Barana D, Oliani C, Tibiletti M, et al. Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC. Clin Genet. 2007;71:130-9 pubmed
    Hereditary non-polyposis colorectal cancer (HNPCC) is caused by inactivating mutations of DNA mismatch repair genes. Large genomic rearrangements in these genes have been increasingly recognized as important causes of HNPCC...
  13. Dherin C, Gueneau E, Francin M, Nunez M, Miron S, Liberti S, et al. Characterization of a highly conserved binding site of Mlh1 required for exonuclease I-dependent mismatch repair. Mol Cell Biol. 2009;29:907-18 pubmed publisher
    ..Given the conservation of Mlh1 and Exo1 interaction, it may readily impact Mlh1-dependent functions such as cancer prevention in higher eukaryotes. ..
  14. Langeberg W, Kwon E, Koopmeiners J, Ostrander E, Stanford J. Population-based study of the association of variants in mismatch repair genes with prostate cancer risk and outcomes. Cancer Epidemiol Biomarkers Prev. 2010;19:258-64 pubmed publisher
    ..Nineteen SNPs were evaluated in the key MMR genes: five in MLH1, 10 in MSH2, and 4 in PMS2...
  15. Southey M, Jenkins M, Mead L, Whitty J, Trivett M, Tesoriero A, et al. Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. J Clin Oncol. 2005;23:6524-32 pubmed
    ..patients: all from families fulfilling the Amsterdam Criteria for hereditary nonpolyposis colorectal cancer (HNPCC); all with tumors that were high MSI, low MSI, or that lacked expression of any MMR protein; and a random sample ..
  16. Sheng J, Fu L, Sun Z, Huang J, Han M, Mu H, et al. Mismatch repair gene mutations in Chinese HNPCC patients. Cytogenet Genome Res. 2008;122:22-7 pubmed publisher
    ..of DNA mismatch repair gene mutations in Chinese patients with hereditary non-polyposis colorectal cancer (HNPCC) or Lynch syndrome, the MLH1 and MSH2 genes from probands of 76 HNPCC families were sequenced...
  17. Starinsky S, Figer A, Ben Asher E, Geva R, Flex D, Fidder H, et al. Genotype phenotype correlations in Israeli colorectal cancer patients. Int J Cancer. 2005;114:58-73 pubmed
    ..SNPs from within candidate genes: APC, beta-Catenin, K-RAS, DCC, P16, PTEN, RB1, P15, APOE, ERCC2, P53, MTHFR and hMSH2. Genotyping of consecutive, unselected colorectal cancer patients was done mostly by utilizing the MassARRAY ..
  18. Papp J, Kovacs M, Olah E. Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing. World J Gastroenterol. 2007;13:2727-32 pubmed
    ..gene mutations and evaluate the clinical characteristics of Hungarian hereditary non-polyposis colorectal cancer (HNPCC) families...
  19. Yap H, Chieng W, Lim J, Lim R, Soo R, Guo J, et al. Recurring MLH1 deleterious mutations in unrelated Chinese Lynch syndrome families in Singapore. Fam Cancer. 2009;8:85-94 pubmed publisher
    ..Families with clinical diagnosis of HNPCC (i.e...
  20. Fan Y, Liu X, Zhang H, Dai J, Zhang X, Zhu M, et al. Variations in exon 7 of the MSH2 gene and susceptibility to gastrointestinal cancer in a Chinese population. Cancer Genet Cytogenet. 2006;170:121-8 pubmed
    Epidemiologic, structural, and bioinformatic analyses were used to evaluate variants in the MSH2 and MLH1 genes in 187 subjects with suspected hereditary gastrointestinal cancer in China...
  21. Pinto C, Veiga I, Pinheiro M, Mesquita B, Jeronimo C, Sousa O, et al. MSH6 germline mutations in early-onset colorectal cancer patients without family history of the disease. Br J Cancer. 2006;95:752-6 pubmed
    Germline MLH1 and MSH2 mutations are scarce in young colorectal cancer patients with negative family history of the disease...
  22. Goecke T, Schulmann K, Engel C, Holinski Feder E, Pagenstecher C, Schackert H, et al. Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium. J Clin Oncol. 2006;24:4285-92 pubmed
    ..algorithms, we identified 281 of 574 unrelated families with deleterious germline mutations in MLH1 (n = 124) or MSH2 (n = 157). A total of 988 patients with 1,381 cancers were included in this analysis...
  23. Wang X, Yuan Y, Zhang S, Cai S, Huang Y, Jiang Q, et al. Clinical and genetic characteristics of Chinese hereditary nonpolyposis colorectal cancer families. World J Gastroenterol. 2006;12:4074-7 pubmed
    To analyze the clinical characteristics of Chinese hereditary nonpolyposis colorectal cancer (HNPCC) families and to screen the germline mutations of human mismatch repair genes hMLH1 and hMSH2 in the probands...
  24. Pagenstecher C, Wehner M, Friedl W, Rahner N, Aretz S, Friedrichs N, et al. Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. Hum Genet. 2006;119:9-22 pubmed
    ..outside the highly conserved splicing region are often found in hereditary nonpolyposis colorectal cancer (HNPCC) families...
  25. Stark A, Doukas A, Hugo H, Mehdorn H. The expression of mismatch repair proteins MLH1, MSH2 and MSH6 correlates with the Ki67 proliferation index and survival in patients with recurrent glioblastoma. Neurol Res. 2010;32:816-20 pubmed publisher
    ..We examined the protein expression of MLH1, MSH2 and MSH6 in paired initial and recurrent glioblastoma and compared the results to the Ki67 proliferation index and ..
  26. Hu F, Li D, Wang Y, Yao X, Zhang W, Liang J, et al. Novel DNA variants and mutation frequencies of hMLH1 and hMSH2 genes in colorectal cancer in the Northeast China population. PLoS ONE. 2013;8:e60233 pubmed publisher
    Research on hMLH1 and hMSH2 mutations tend to focus on Lynch syndrome (LS) and LS-like colorectal cancer (CRC)...
  27. Yang Q, Zhang R, Wang X, Linke S, Sengupta S, Hickson I, et al. The mismatch DNA repair heterodimer, hMSH2/6, regulates BLM helicase. Oncogene. 2004;23:3749-56 pubmed
    ..mismatch repair components have been implicated in DNA homologous recombination repair, the exact function of hMSH2/6 in this pathway is unclear...
  28. Lamberti C, Mangold E, Pagenstecher C, Jungck M, Schwering D, Bollmann M, et al. Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in Germany. Digestion. 2006;74:58-67 pubmed
    Hereditary non-polyposis colorectal cancer (HNPCC) is a major form of familial colorectal cancer (CRC)...
  29. Poplawski T, Zadrozny M, Kolacinska A, Rykala J, Morawiec Z, Blasiak J. Polymorphisms of the DNA mismatch repair gene HMSH2 in breast cancer occurence and progression. Breast Cancer Res Treat. 2005;94:199-204 pubmed
    ..b>hMSH2 is one of the crucial proteins of MMR...
  30. Zhou J, Wang D, Song L, Li S, Ding J, Ma G, et al. [Association of IVS10+12G>A polymorphism in hMSH2 gene with colorectal cancer in Chinese]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010;27:579-83 pubmed publisher
    To investigate the association of the single-nucleotide polymorphism (SNP) IVS10+12 G>A in hMSH2 gene with colorectal cancer in a Chinese population of Jiangsu province...
  31. Barrow E, Robinson L, Alduaij W, Shenton A, Clancy T, Lalloo F, et al. Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. Clin Genet. 2009;75:141-9 pubmed publisher
    ..0003). Gastric cancer risk in those born after 1935 does not justify surveillance. These penetrance estimates have been corrected for ascertainment bias and are appropriate for those referred to a high-risk clinic...
  32. Dzantiev L, Constantin N, Genschel J, Iyer R, Burgers P, Modrich P. A defined human system that supports bidirectional mismatch-provoked excision. Mol Cell. 2004;15:31-41 pubmed
    ..By contrast, RFC and PCNA have only a limited effect on 5' to 3' excision directed by a 5' strand break. ..
  33. Liu S, Zhao B, Wang Z, Wan Y, Huang Y. Clinical features and mismatch repair gene mutation screening in Chinese patients with hereditary nonpolyposis colorectal carcinoma. World J Gastroenterol. 2004;10:2647-51 pubmed
    ..It has been associated with germline mutations in five mismatch repair (MMR) genes (hMSH2, hMLH1, hPMS1, hPMS2, and hMSH6/GTBP). The great majority of germline mutations were found in hMSH2 and hMLH1...
  34. Lagerstedt Robinson K, Liu T, Vandrovcova J, Halvarsson B, Clendenning M, Frebourg T, et al. Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. J Natl Cancer Inst. 2007;99:291-9 pubmed
    ..In particular, patients with Lynch syndrome, hereditary nonpolyposis colorectal cancer (HNPCC), have an increased risk to develop colorectal cancer at an early age...
  35. Boeckmann L, Schirmer M, Rosenberger A, Struever D, Thoms K, Gutzmer R, et al. Effect of DNA repair host factors on temozolomide or dacarbazine melanoma treatment in Caucasians. Pharmacogenet Genomics. 2009;19:760-9 pubmed publisher
    ..In each patient, the mRNA expression of MGMT and two essential mismatch repair genes, MLH1 and MSH2, was measured in peripheral blood...
  36. Gammie A, Erdeniz N, Beaver J, Devlin B, Nanji A, Rose M. Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. Genetics. 2007;177:707-21 pubmed
    ..Mutations in either hMSH2 or hMLH1 underlie the majority of HNPCC cases...
  37. Baert Desurmont S, Buisine M, Bessenay E, Frerot S, Lovecchio T, Martin C, et al. Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer. Eur J Hum Genet. 2007;15:383-6 pubmed
    ..have highlighted the contribution of MSH2 and MLH1 genomic deletions to hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch's syndrome, but genomic duplications of these genes have been rarely reported...
  38. Niessen R, Kleibeuker J, Westers H, Jager P, Rozeveld D, Bos K, et al. PMS2 involvement in patients suspected of Lynch syndrome. Genes Chromosomes Cancer. 2009;48:322-9 pubmed publisher
    It is well-established that germline mutations in the mismatch repair genes MLH1, MSH2, and MSH6 cause Lynch syndrome. However, mutations in these three genes do not account for all Lynch syndrome (suspected) families...
  39. Lastella P, Surdo N, Resta N, Guanti G, Stella A. In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects. BMC Genomics. 2006;7:243 pubmed
    ..We analysed 99 hMLH1 and hMSH2 missense mutations with six different algorithms...
  40. Owen B, Yang Z, Lai M, Gajec M, Gajek M, Badger J, et al. (CAG)(n)-hairpin DNA binds to Msh2-Msh3 and changes properties of mismatch recognition. Nat Struct Mol Biol. 2005;12:663-70 pubmed
    Cells have evolved sophisticated DNA repair systems to correct damaged DNA. However, the human DNA mismatch repair protein Msh2-Msh3 is involved in the process of trinucleotide (CNG) DNA expansion rather than repair...
  41. Owen B, H Lang W, McMurray C. The nucleotide binding dynamics of human MSH2-MSH3 are lesion dependent. Nat Struct Mol Biol. 2009;16:550-7 pubmed publisher
    Here we report that the human DNA mismatch complex MSH2-MSH3 recognizes small loops by a mechanism different from that of MSH2-MSH6 for single-base mismatches. The subunits MSH2 and MSH3 can bind either ADP or ATP with similar affinities...
  42. Yoshioka K, Yoshioka Y, Hsieh P. ATR kinase activation mediated by MutSalpha and MutLalpha in response to cytotoxic O6-methylguanine adducts. Mol Cell. 2006;22:501-10 pubmed
    ..These results suggest that MMR proteins can act as direct sensors of methylation damage and help recruit ATR-ATRIP to sites of cytotoxic O(6)-meG adducts to initiate ATR checkpoint signaling. ..
  43. Demokan S, Suoglu Y, Demir D, Gozeler M, Dalay N. Microsatellite instability and methylation of the DNA mismatch repair genes in head and neck cancer. Ann Oncol. 2006;17:995-9 pubmed
    Methylation in the promoter region of the DNA mismatch repair genes hMLH1 and hMSH2 and microsatellite instability at three loci were analyzed in the tumor tissue from patients with head and neck cancer...
  44. Grindedal E, Møller P, Eeles R, Stormorken A, Bowitz Lothe I, Landrø S, et al. Germ-line mutations in mismatch repair genes associated with prostate cancer. Cancer Epidemiol Biomarkers Prev. 2009;18:2460-7 pubmed publisher
    ..The mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2 are associated with Lynch syndrome where colon and endometrial cancers are the predominant ..
  45. Betz B, Theiss S, Aktas M, Konermann C, Goecke T, Möslein G, et al. Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2. J Cancer Res Clin Oncol. 2010;136:123-34 pubmed publisher
    ..cancer and other malignancies, is caused by inactivating mutations of DNA mismatch repair genes, mainly MLH1 and MSH2. Missense mutations affect protein structure or function, but may also cause aberrant splicing, if located within ..
  46. Yoon S, Park T, Kim N, Lee K, Kim J, Song J, et al. Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer. Cancer Genet Cytogenet. 2009;188:61-4 pubmed publisher
    Hereditary nonpolyposis colorectal cancer (HNPCC) (MIM #114500), also called Lynch syndrome, is an autosomal dominantly inherited cancer syndrome accounting for 1-5% of all colorectal cancer cases...
  47. Ollila S, Dermadi Bebek D, Jiricny J, Nyström M. Mechanisms of pathogenicity in human MSH2 missense mutants. Hum Mutat. 2008;29:1355-63 pubmed publisher
    ..mismatch repair (MMR) gene MSH2 is the second most frequently mutated hereditary nonpolyposis colorectal cancer (HNPCC) susceptibility locus...
  48. Jin H, Liu X, Li V, Ding Y, Yang B, Geng J, et al. Detection of mismatch repair gene germline mutation carrier among Chinese population with colorectal cancer. BMC Cancer. 2008;8:44 pubmed publisher
    Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant syndrome. The National Cancer Institute (NCI) has recommended the Revised Bethesda guidelines for screening HNPCC...
  49. Shahi A, Lee J, Kang Y, Lee S, Hyun J, Chang I, et al. Mismatch-repair protein MSH6 is associated with Ku70 and regulates DNA double-strand break repair. Nucleic Acids Res. 2011;39:2130-43 pubmed publisher
    MSH6, a key component of the MSH2-MSH6 complex, plays a fundamental role in the repair of mismatched DNA bases. Herein, we report that MSH6 is a novel Ku70-interacting protein identified by yeast two-hybrid screening...
  50. van der Post R, Kiemeney L, Ligtenberg M, Witjes J, Hulsbergen van de Kaa C, Bodmer D, et al. Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. J Med Genet. 2010;47:464-70 pubmed publisher
    ..and upper urinary tract tumours are characteristic for Lynch syndrome (hereditary non-polyposis colon carcinoma, HNPCC)...
  51. Valeri N, Gasparini P, Braconi C, Paone A, Lovat F, Fabbri M, et al. MicroRNA-21 induces resistance to 5-fluorouracil by down-regulating human DNA MutS homolog 2 (hMSH2). Proc Natl Acad Sci U S A. 2010;107:21098-103 pubmed publisher
    ..targets and down-regulates the core mismatch repair (MMR) recognition protein complex, human mutS homolog 2 (hMSH2) and 6 (hMSH6). Colorectal tumors that express a high level of miR-21 display reduced hMSH2 protein expression...
  52. Baudhuin L, Ferber M, Winters J, Steenblock K, Swanson R, French A, et al. Characterization of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patients. Gastroenterology. 2005;129:846-54 pubmed
    ..of Lynch syndrome cases are believed to be due to large genomic alterations in the mismatch repair genes hMLH1 and hMSH2. However, previous studies have not adequately identified the frequency and scope of such mutations, and routine ..
  53. Stoffel E, Mukherjee B, Raymond V, Tayob N, Kastrinos F, Sparr J, et al. Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. Gastroenterology. 2009;137:1621-7 pubmed publisher
    ..We studied 147 families with mismatch repair gene mutations (55 MLH1, 81 MSH2, and 11 MSH6) identified at 2 US cancer genetics clinics...
  54. Jarvinen H, Renkonen Sinisalo L, Aktan Collan K, Peltomaki P, Aaltonen L, Mecklin J. Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members. J Clin Oncol. 2009;27:4793-7 pubmed publisher
    ..The long-term effectiveness of surveillance was evaluated in Lynch syndrome family members tested approximately 10 years ago...
  55. Clendenning M, Baze M, Sun S, Walsh K, Liyanarachchi S, Fix D, et al. Origins and prevalence of the American Founder Mutation of MSH2. Cancer Res. 2008;68:2145-53 pubmed publisher
    Large germline deletions within the mismatch repair gene MSH2 account for a significant proportion (up to 20%) of all deleterious mutations of this gene which are associated with Lynch syndrome...
  56. Park J, Kim D, Hong C, Nam B, Shin Y, Hong S, et al. Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study. Clin Cancer Res. 2006;12:3389-93 pubmed
    ..characteristics and mutational profiles of the mismatch repair genes in hereditary nonpolyposis colorectal cancer (HNPCC) patients with small bowel cancer (SBC)...
  57. Tian L, Gu L, Li G. Distinct nucleotide binding/hydrolysis properties and molar ratio of MutSalpha and MutSbeta determine their differential mismatch binding activities. J Biol Chem. 2009;284:11557-62 pubmed publisher
    MutSalpha (MSH2/MSH6) and MutSbeta (MSH2/MSH3) are eukaryotic mismatch recognition proteins that preferentially process base-base and small insertion/deletion (ID) mispairs, respectively, despite the fact that cells contain a MutSalpha:..
  58. Domingo E, Laiho P, Ollikainen M, Pinto M, Wang L, French A, et al. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet. 2004;41:664-8 pubmed
    According to the international criteria for hereditary non-polyposis colorectal cancer (HNPCC) diagnostics, cancer patients with a family history or early onset of colorectal tumours showing high microsatellite instability (MSI-H) should ..
  59. Williams S, Wilson J, Clark A, Mitson Salazar A, Tomashevski A, Ananth S, et al. Functional and physical interaction between the mismatch repair and FA-BRCA pathways. Hum Mol Genet. 2011;20:4395-410 pubmed publisher
    ..Here we show that FANCD2 interacts with the MMR proteins MSH2 and MLH1...
  60. Bujalkova M, Zavodna K, Krivulcik T, Ilencikova D, Wolf B, Kovac M, et al. Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors. Clin Chem. 2008;54:1844-54 pubmed publisher
    In the workup of patients with suspected hereditary nonpolyposis colorectal cancer (HNPCC), detection of loss of heterozygosity (LOH) could help pinpoint the mismatch-repair (MMR) gene carrying the germline mutation, but analysis of ..
  61. Tian L, Hou C, Tian K, Holcomb N, Gu L, Li G. Mismatch recognition protein MutSbeta does not hijack (CAG)n hairpin repair in vitro. J Biol Chem. 2009;284:20452-6 pubmed publisher
    ..Evidence presented here provides a novel view as to whether or not MutSbeta is involved in CAG repeat instability in humans. ..
  62. Watson P, Ashwathnarayan R, Lynch H, Roy H. Tobacco use and increased colorectal cancer risk in patients with hereditary nonpolyposis colorectal cancer (Lynch syndrome). Arch Intern Med. 2004;164:2429-31 pubmed
    ..variability in age at onset of colorectal cancer (CRC) in patients with hereditary nonpolyposis colorectal cancer (HNPCC) makes management decisions difficult...