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MutS Homolog 2 (MSH2)

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HNPCC; COCA1; FCC1; HNPCC1; Colon Cancer,Nonpolyposis Type 1; DNA mismatch repair protein Msh2

MutS Homolog 2 (MSH2)
CCC J745
HGNC 7325
MGI 101816
PubMed 23255516
RGD 620786
UniProt P43246
Wiki MSH2
MSH2 was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. It is also associated with some endometrial cancers.
MSH2 is homologous to a prokaryotic gene, MutS, that participates in mismatch repair. The highest homology is to the yeast Msh2 gene in the helix-turn-helix domain, perhaps responsible for MutS binding to DNA. The yeast and human Msh2 proteins are 77% identical between codons 615 and 788. There are 10 other blocks of similar amino acids distributed throughout the length of the 2 proteins.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPJ745Hu01 Recombinant MutS Homolog 2 (MSH2) Positive Control; Immunogen; SDS-PAGE; WB.
EPJ745Hu61 Eukaryotic MutS Homolog 2 (MSH2) Positive Control; Immunogen; SDS-PAGE; WB.
APJ745Hu61 Active MutS Homolog 2 (MSH2) Cell culture; Activity Assays.
Antibodies n/a Monoclonal Antibody to MutS Homolog 2 (MSH2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to MutS Homolog 2 (MSH2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for MutS Homolog 2 (MSH2) CLIA Kit Customized Service Offer
n/a ELISA Kit for MutS Homolog 2 (MSH2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant MutS Homolog 2 (MSH2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to MutS Homolog 2 (MSH2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to MutS Homolog 2 (MSH2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for MutS Homolog 2 (MSH2) CLIA Kit Customized Service Offer
n/a ELISA Kit for MutS Homolog 2 (MSH2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant MutS Homolog 2 (MSH2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to MutS Homolog 2 (MSH2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to MutS Homolog 2 (MSH2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for MutS Homolog 2 (MSH2) CLIA Kit Customized Service Offer
n/a ELISA Kit for MutS Homolog 2 (MSH2) ELISA Kit Customized Service Offer

Organism species: Sus scrofa; Porcine (Pig)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPJ745Po01 Recombinant MutS Homolog 2 (MSH2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to MutS Homolog 2 (MSH2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to MutS Homolog 2 (MSH2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for MutS Homolog 2 (MSH2) CLIA Kit Customized Service Offer
n/a ELISA Kit for MutS Homolog 2 (MSH2) ELISA Kit Customized Service Offer
  1. "The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer."Cell 75:1027-1038(1993) [PubMed] [Europe PMC] [Abstract]
  2. ErratumCell 77:167-167(1994) [PubMed] [Europe PMC] [Abstract]
  3. "Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer." Cell 75:1215-1225(1993) [PubMed] [Europe PMC] [Abstract]
  4. "Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations."Genomics 24:516-526(1994) [PubMed] [Europe PMC] [Abstract]
  5. "Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis."Am. J. Hum. Genet. 56:1060-1066(1995) [PubMed] [Europe PMC] [Abstract]
  6. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  7. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  8. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  10. "Purified human MSH2 protein binds to DNA containing mismatched nucleotides."Cancer Res. 54:5539-5542(1994) [PubMed] [Europe PMC] [Abstract]
  11. "A carboxy terminal domain of the hMSH-2 gene product is sufficient for binding specific mismatched oligonucleotides."Biochem. Biophys. Res. Commun. 225:289-295(1996) [PubMed] [Europe PMC] [Abstract]
  12. "hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6."Proc. Natl. Acad. Sci. U.S.A. 93:13629-13634(1996) [PubMed] [Europe PMC] [Abstract]
  13. "Human exonuclease I interacts with the mismatch repair protein hMSH2."Cancer Res. 58:4537-4542(1998) [PubMed] [Europe PMC] [Abstract]
  14. "Nucleotide-promoted release of hMutSalpha from heteroduplex DNA is consistent with an ATP-dependent translocation mechanism."J. Biol. Chem. 273:32055-32062(1998) [PubMed] [Europe PMC] [Abstract]
  15. "DNA-dependent activation of the hMutSalpha ATPase."J. Biol. Chem. 273:32049-32054(1998) [PubMed] [Europe PMC] [Abstract]
  16. "hMSH2 and hMSH6 play distinct roles in mismatch binding and contribute differently to the ATPase activity of hMutSalpha."EMBO J. 17:2677-2686(1998) [PubMed] [Europe PMC] [Abstract]
  17. "Functional analysis of human MutSalpha and MutSbeta complexes in yeast."Nucleic Acids Res. 27:736-742(1999) [PubMed] [Europe PMC] [Abstract]
  18. "hMSH2-hMSH6 forms a hydrolysis-independent sliding clamp on mismatched DNA."Mol. Cell 3:255-261(1999) [PubMed] [Europe PMC] [Abstract]
  19. "BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures."Genes Dev. 14:927-939(2000) [PubMed] [Europe PMC] [Abstract]
  20. "Identification of factors interacting with hMSH2 in the fetal liver utilizing the yeast two-hybrid system. In vivo interaction through the C-terminal domains of hEXO1 and hMSH2 and comparative expression analysis."Mutat. Res. 460:41-52(2000) [PubMed] [Europe PMC] [Abstract]
  21. "The role of mismatched nucleotides in activating the hMSH2-hMSH6 molecular switch."J. Biol. Chem. 275:3922-3930(2000) [PubMed] [Europe PMC] [Abstract]
  22. "The interaction of DNA mismatch repair proteins with human exonuclease I."J. Biol. Chem. 276:33011-33018(2001) [PubMed] [Europe PMC] [Abstract]
  23. "HNPCC mutations in the human DNA mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes."Oncogene 20:3590-3595(2001) [PubMed] [Europe PMC] [Abstract]
  24. "Functional alterations of human exonuclease 1 mutants identified in atypical hereditary nonpolyposis colorectal cancer syndrome."Cancer Res. 62:6026-6030(2002) [PubMed] [Europe PMC] [Abstract]
  25. "MSH2 and ATR form a signaling module and regulate two branches of the damage response to DNA methylation."Proc. Natl. Acad. Sci. U.S.A. 100:15387-15392(2003) [PubMed] [Europe PMC] [Abstract]
  26. "Characterization of human exonuclease 1 in complex with mismatch repair proteins, subcellular localization and association with PCNA."Oncogene 23:1457-1468(2004) [PubMed] [Europe PMC] [Abstract]
  27. "The mismatch DNA repair heterodimer, hMSH2/6, regulates BLM helicase."Oncogene 23:3749-3756(2004) [PubMed] [Europe PMC] [Abstract]
  28. "hMutS alpha is protected from ubiquitin-proteasome-dependent degradation by atypical protein kinase C zeta phosphorylation."J. Mol. Biol. 348:63-74(2005) [PubMed] [Europe PMC] [Abstract]
  29. "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
  30. "The DNA-mismatch repair enzyme hMSH2 modulates UV-B-induced cell cycle arrest and apoptosis in melanoma cells."J. Invest. Dermatol. 128:203-213(2008) [PubMed] [Europe PMC] [Abstract]
  31. "Colon cancer and DNA repair: have mismatches met their match?"Trends Genet. 10:164-168(1994) [PubMed] [Europe PMC] [Abstract]
  32. "Molecular basis of HNPCC: mutations of MMR genes."Hum. Mutat. 10:89-99(1997) [PubMed] [Europe PMC] [Abstract]
  33. "The role of the human DNA mismatch repair gene hMSH2 in DNA repair, cell cycle control and apoptosis: implications for pathogenesis, progression and therapy of cancer."J. Mol. Histol. 37:301-307(2006) [PubMed] [Europe PMC] [Abstract]
  34. "The novel protein complex with SMARCAD1/KIAA1122 binds to the vicinity of TSS."J. Mol. Biol. 382:257-265(2008) [PubMed] [Europe PMC] [Abstract]
  35. "Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair."Cell 138:63-77(2009) [PubMed] [Europe PMC] [Abstract]
  36. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
  37. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  38. "N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
  39. "Structure of the human MutSalpha DNA lesion recognition complex."Mol. Cell 26:579-592(2007) [PubMed] [Europe PMC] [Abstract]
  40. "Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development."Hum. Mol. Genet. 3:2067-2069(1994) [PubMed] [Europe PMC] [Abstract]
  41. "Molecular nature of colon tumors in hereditary nonpolyposis colon cancer, familial polyposis, and sporadic colon cancer."Gastroenterology 111:307-317(1996) [PubMed] [Europe PMC] [Abstract]
  42. "CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations."Hum. Genet. 97:251-255(1996) [PubMed] [Europe PMC] [Abstract]
  43. "Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer."Hum. Mol. Genet. 5:1245-1252(1996) [PubMed] [Europe PMC] [Abstract]
  44. "Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer."J. Natl. Cancer Inst. 88:1317-1319(1996) [PubMed] [Europe PMC] [Abstract]
  45. "Microsatellite instability and the role of hMSH2 in sporadic colorectal cancer."Oncogene 12:2641-2649(1996) [PubMed] [Europe PMC] [Abstract]
  46. "Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations."Am. J. Hum. Genet. 61:329-335(1997) [PubMed] [Europe PMC] [Abstract]
  47. "Frequent somatic mutations of hMSH3 with reference to microsatellite instability in hereditary nonpolyposis colorectal cancers."Biochem. Biophys. Res. Commun. 236:248-252(1997) [PubMed] [Europe PMC] [Abstract]
  48. "Identification of concurrent germ-line mutations in hMSH2 and/or hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds."Cancer Epidemiol. Biomarkers Prev. 6:1057-1064(1997) [PubMed] [Europe PMC] [Abstract]
  49. "Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer."Genes Chromosomes Cancer 18:8-18(1997) [PubMed] [Europe PMC] [Abstract]
  50. "MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis."Genes Chromosomes Cancer 18:269-278(1997) [PubMed] [Europe PMC] [Abstract]
  51. "Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria."Hum. Genet. 99:219-224(1997) [PubMed] [Europe PMC] [Abstract]
  52. "Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes."Hum. Mutat. 10:241-244(1997) [PubMed] [Europe PMC] [Abstract]
  53. "Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls."Am. J. Hum. Genet. 63:749-759(1998) [PubMed] [Europe PMC] [Abstract]
  54. "Microsatellite instability and mutation of DNA mismatch repair genes in gliomas."Am. J. Pathol. 153:1181-1188(1998) [PubMed] [Europe PMC] [Abstract]
  55. "Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer."Dis. Colon Rectum 41:434-440(1998) [PubMed] [Europe PMC] [Abstract]
  56. "MSH2 codon 322 Gly to Asp seems not to confer an increased risk for colorectal cancer susceptibility."Eur. J. Cancer 34:1981-1981(1998) [PubMed] [Europe PMC] [Abstract]
  57. "Novel germline mutations of hMSH2 in a patient with hereditary nonpolyposis colorectal cancer 'HNPCC' and in a patient with six primary cancers."J. Hum. Genet. 43:143-145(1998) [PubMed] [Europe PMC] [Abstract]
  58. "Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer."Cancer 85:2512-2518(1999) [PubMed] [Europe PMC] [Abstract]
  59. "Mutator phenotypes of common polymorphisms and missense mutations in MSH2."Curr. Biol. 9:907-910(1999) [PubMed] [Europe PMC] [Abstract]
  60. "Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2."Eur. J. Hum. Genet. 7:778-782(1999) [PubMed] [Europe PMC] [Abstract]
  61. "Novel hMLH1 and hMSH2 germline mutations in African Americans with colorectal cancer."JAMA 281:2316-2320(1999) [PubMed] [Europe PMC] [Abstract]
  62. "A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening."J. Med. Genet. 36:790-793(1999) [PubMed] [Europe PMC] [Abstract]
  63. "Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds."Biochem. Biophys. Res. Commun. 271:120-129(2000) [PubMed] [Europe PMC] [Abstract]
  64. "Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach."Eur. J. Hum. Genet. 8:49-53(2000) [PubMed] [Europe PMC] [Abstract]
  65. "Four novel MSH2 / MLH1 gene mutations in Portuguese HNPCC families."Hum. Mutat. 15:116-116(2000) [PubMed] [Europe PMC] [Abstract]
  66. "Population-based molecular detection of hereditary nonpolyposis colorectal cancer."J. Clin. Oncol. 18:2193-2200(2000) [PubMed] [Europe PMC] [Abstract]
  67. ErratumJ. Clin. Oncol. 18:3456-3456(2000)
  68. "hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer."Cancer Detect. Prev. 25:503-510(2001) [PubMed] [Europe PMC] [Abstract]
  69. "Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?"Eur. J. Med. Res. 6:473-482(2001) [PubMed] [Europe PMC] [Abstract]
  70. "Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae."Hum. Mol. Genet. 10:1889-1900(2001) [PubMed] [Europe PMC] [Abstract]
  71. "Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach."Br. J. Cancer 87:892-897(2002) [PubMed] [Europe PMC] [Abstract]
  72. "Evaluation of screening strategy for detecting hereditary nonpolyposis colorectal carcinoma."Cancer 94:911-920(2002) [PubMed] [Europe PMC] [Abstract]
  73. "HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions."Cancer Cell 1:469-478(2002) [PubMed] [Europe PMC] [Abstract]
  74. "A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple cafe-au-lait spots."Cancer Res. 62:359-362(2002) [PubMed] [Europe PMC] [Abstract]
  75. "Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing."Gut 50:405-412(2002) [PubMed] [Europe PMC] [Abstract]
  76. "Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation."Hum. Mutat. 20:20-27(2002) [PubMed] [Europe PMC] [Abstract]
  77. "Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic testing in hereditary non-polyposis colorectal cancer."J. Cancer Res. Clin. Oncol. 128:403-411(2002) [PubMed] [Europe PMC] [Abstract]
  78. "Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression."J. Clin. Oncol. 20:1203-1208(2002) [PubMed] [Europe PMC] [Abstract]
  79. "Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States." J. Med. Genet. 39:E65-E65(2002) [PubMed] [Europe PMC] [Abstract]
  80. "Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene." Am. J. Hum. Genet. 72:1088-1100(2003) [PubMed] [Europe PMC] [Abstract]
  81. "Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases."Ann. Oncol. 14:1530-1536(2003) [PubMed] [Europe PMC] [Abstract]
  82. "Genetic analysis of familial colorectal cancer in Israeli Arabs."Hum. Mutat. 21:446-447(2003) [PubMed] [Europe PMC] [Abstract]
  83. "Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia."Hum. Mutat. 21:449-449(2003) [PubMed] [Europe PMC] [Abstract]
  84. "Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA."Hum. Mutat. 22:428-433(2003) [PubMed] [Europe PMC] [Abstract]
  85. "Oncogenic pathway of sporadic colorectal cancer with novel germline missense mutations in the hMSH2 gene."Oncol. Rep. 10:859-866(2003) [PubMed] [Europe PMC] [Abstract]
  86. "Gene symbol: hMSH2. Disease: hereditary nonpolyposis colorectal cancer."Hum. Genet. 114:409-409(2004) [PubMed] [Europe PMC] [Abstract]
  87. "RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1."Hum. Mutat. 24:272-272(2004) [PubMed] [Europe PMC] [Abstract]
  88. "Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families."Hum. Mutat. 24:351-351(2004) [PubMed] [Europe PMC] [Abstract]
  89. "Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR."Jpn. J. Clin. Oncol. 34:660-666(2004) [PubMed] [Europe PMC] [Abstract]
  90. "BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing."J. Med. Genet. 41:664-668(2004) [PubMed] [Europe PMC] [Abstract]
  91. "A novel missense germline mutation in exon 2 of the hMSH2 gene in a HNPCC family from Southern Italy."Cancer Lett. 223:285-291(2005) [PubMed] [Europe PMC] [Abstract]
  92. "Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia."Clin. Genet. 68:137-145(2005) [PubMed] [Europe PMC] [Abstract]
  93. "Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes."Eur. J. Hum. Genet. 13:983-986(2005) [PubMed] [Europe PMC] [Abstract]
  94. "Gene symbol: MSH2. Disease: hereditary nonpolyposis colorectal cancer."Hum. Genet. 116:539-539(2005) [PubMed] [Europe PMC] [Abstract]
  95. "Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study)." Clin. Genet. 69:40-47(2006) [PubMed] [Europe PMC] [Abstract]
  96. "Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein."Gastroenterology 131:1408-1417(2006) [PubMed] [Europe PMC] [Abstract]
  97. "Gene symbol: msh2. Disease: hereditary nonpolyposis colorectal cancer."Hum. Genet. 119:675-675(2006) [PubMed] [Europe PMC] [Abstract]
  98. "A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting."Gut 57:1539-1544(2008) [PubMed] [Europe PMC] [Abstract]
  99. "Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer."Hum. Mutat. 29:367-374(2008) [PubMed] [Europe PMC] [Abstract]
  100. "Mechanisms of pathogenicity in human MSH2 missense mutants."Hum. Mutat. 29:1355-1363(2008) [PubMed] [Europe PMC] [Abstract]
  101. "A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects."Hum. Mutat. 29:1412-1424(2008) [PubMed] [Europe PMC] [Abstract]
  102. "MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system."Hum. Mutat. 29:E296-E309(2008) [PubMed] [Europe PMC] [Abstract]
  103. "Functional analysis of HNPCC-related missense mutations in MSH2."Mutat. Res. 645:44-55(2008) [PubMed] [Europe PMC] [Abstract]
  104. "A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants."Hum. Mutat. 33:488-494(2012) [PubMed] [Europe PMC] [Abstract]
  105. "Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients."Hum. Mutat. 33:1294-1301(2012) [PubMed] [Europe PMC] [Abstract]
  106. "Germline mutation analysis of MLH1 and MSH2 in Malaysian Lynch syndrome patients."World J. Gastroenterol. 18:814-820(2012) [PubMed] [Europe PMC] [Abstract]