Citations for
1MSH2
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk
Jia X, Burugula BB, Chen V, Lemons RM, Jayakody S, Maksutova M, Kitzman JO.
Am J Hum Genet. Jan 7;108(1):163-175. doi: 10.1016/j.ajhg.2020.12.003. Epub 2020 Dec 23. 2021
2MSH2
Two novel sequence variants in MSH2 gene in a patient who underwent cancer genetic counseling for a very early-onset epithelial ovarian cancer.
Pensabene M, Condello C, Carlomagno C, De Placido S, Liccardo R, Duraturo F.
Hered Cancer Clin Pract 14(1):18. doi: 10.1186/s13053-016-0054-5. eCollection 2016. 2016
3MSH2
Msh2 deficiency leads to dysmyelination of the corpus callosum, impaired locomotion, and altered sensory function in mice.
Diouf B, Devaraju P, Janke LJ, Fan Y, Frase S, Eddins D, Peters JL, Kim J, Pei D, Cheng C, Zakharenko SS, Evans WE.
Sci Rep 6:30757. doi: 10.1038/srep30757. 2016
4HNPCC1, MSH2
A cryptic paracentric inversion of MSH2 exons 2-6 causes Lynch syndrome.
Liu Q, Hesson LB, Nunez AC, Packham D, Williams R, Ward RL, Sloane MA.
Carcinogenesis 37(1):10-7. doi: 10.1093/carcin/bgv154. Epub 2015 Oct 24. 2016
5MSH2, MSH3
MSH3 Promotes Dynamic Behavior of Trinucleotide Repeat Tracts In Vivo.
Williams GM, Surtees JA.
Genetics 200(3):737-54. doi: 10.1534/genetics.115.177303. Epub 2015 May 11. 2015
6MSH2, MSH3, MSH6
Histone deacetylase 10 regulates DNA mismatch repair and may involve the deacetylation of MutS homolog 2.
Radhakrishnan R, Li Y, Xiang S, Yuan F, Yuan Z, Telles E, Fang J, Coppola D, Shibata D, Lane WS, Zhang Y, Zhang X, Seto E.
J Biol Chem 290(37):22795-804. doi: 10.1074/jbc.M114.612945. Epub 2015 Jul 28. 2015
7MSH2, MSH3
The MutSβ complex is a modulator of p53-driven tumorigenesis through its functions in both DNA double-strand break repair and mismatch repair.
van Oers JM, Edwards Y, Chahwan R, Zhang W, Smith C, Pechuan X, Schaetzlein S, Jin B, Wang Y, Bergman A, Scharff MD, Edelmann W.
Oncogene 33(30):3939-46. doi: 10.1038/onc.2013.365. Epub 2013 Sep 9. 2014
8MLH1, MSH2
Promoter methylation of MLH1, PMS2, MSH2 and p16 is a phenomenon of advanced-stage HCCs.
Hinrichsen I, Kemp M, Peveling-Oberhag J, Passmann S, Plotz G, Zeuzem S, Brieger A.
PLoS One 9(1):e84453. doi: 10.1371/journal.pone.0084453. eCollection 2014. 2014
9MSH2, MSH6
Mismatch repair protein hMSH2-hMSH6 recognizes mismatches and forms sliding clamps within a D-loop recombination intermediate.
Honda M, Okuno Y, Hengel SR, Martín-López JV, Cook CP, Amunugama R, Soukup RJ, Subramanyam S, Fishel R, Spies M.
Proc Natl Acad Sci U S A 111(3):E316-25. doi: 10.1073/pnas.1312988111. Epub 2014 Jan 6. 2014
10MLH1, MSH2
Promoter methylation and immunohistochemical expression of hMLH1 and hMSH2 in sporadic colorectal cancer: a study from India.
Malhotra P, Anwar M, Kochhar R, Ahmad S, Vaiphei K, Mahmood S.
Tumour Biol 35(4):3679-87. doi: 10.1007/s13277-013-1487-3. Epub 2013 Dec 10. 2014
11MSH2, MSH3
Distinct requirements within the Msh3 nucleotide binding pocket for mismatch and double-strand break repair.
Kumar C, Williams GM, Havens B, Dinicola MK, Surtees JA.
J Mol Biol 425(11):1881-98. doi: 10.1016/j.jmb.2013.02.024. Epub 2013 Feb 28. 2013
12MSH2, MSH3
Msh2-Msh3 interferes with Okazaki fragment processing to promote trinucleotide repeat expansions.
Kantartzis A, Williams GM, Balakrishnan L, Roberts RL, Surtees JA, Bambara RA.
Cell Rep 2(2):216-22. doi: 10.1016/j.celrep.2012.06.020. Epub 2012 Aug 2. 2012
13MSH2, MSH6
Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.
Kantelinen J, Kansikas M, Candelin S, Hampel H, Smith B, Holm L, Kariola R, Nyström M.
Hum Mutat 33(8):1294-301. doi: 10.1002/humu.22119. Epub 2012 Jun 11. 2012
14MSH2
Human MSH2 (hMSH2) protein controls ATP processing by hMSH2-hMSH6.
Heinen CD, Cyr JL, Cook C, Punja N, Sakato M, Forties RA, Lopez JM, Hingorani MM, Fishel R.
J Biol Chem. 286(46):40287-95. 2011
15MSH2
Functional and physical interaction between the mismatch repair and FA-BRCA pathways.
Williams SA, Wilson JB, Clark AP, Mitson-Salazar A, Tomashevski A, Ananth S, Glazer PM, Semmes OJ, Bale AE, Jones NJ, Kupfer GM.
Hum Mol Genet. 20(22):4395-410. 2011
16MSH2
Human MutS and FANCM complexes function as redundant DNA damage sensors in the Fanconi Anemia pathway.
Huang M, Kennedy R, Ali AM, Moreau LA, Meetei AR, D'Andrea AD, Chen CC.
DNA Repair (Amst). 10(12):1203-12. 2011
17MSH2, MSH3
Conformational trapping of mismatch recognition complex MSH2/MSH3 on repair-resistant DNA loops.
Lang WH, Coats JE, Majka J, Hura GL, Lin Y, Rasnik I, McMurray CT.
Proc Natl Acad Sci U S A 108(42):E837-44. doi: 10.1073/pnas.1105461108. Epub 2011 Sep 29. 2011
18HNPCC1, MSH2, MTS
A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome.
Perera S, Ramyar L, Mitri A, Pollett A, Gallinger S, Speevak MD, Aronson M, Bapat B.
J Hum Genet 55(1):37-41. Epub 2009 Nov 13.PMID: 19911012 2010
19MSH2, MSH6
Interaction between the Msh2 and Msh6 nucleotide-binding sites in the Saccharomyces cerevisiae Msh2-Msh6 complex.
Hargreaves VV, Shell SS, Mazur DJ, Hess MT, Kolodner RD.
J Biol Chem 285(12):9301-10. Epub 2010 Jan 20.PMID: 20089866 2010
20MSH2, MSH3
Functional studies and homology modeling of Msh2-Msh3 predict that mispair recognition involves DNA bending and strand separation.
Dowen JM, Putnam CD, Kolodner RD.
Mol Cell Biol 30(13):3321-8. doi: 10.1128/MCB.01558-09. Epub 2010 Apr 26. 2010
21MSH2, MSH3
Mismatch Recognition Protein MutS{beta} Does Not Hijack (CAG)n Hairpin Repair in Vitro.
Tian L, Hou C, Tian K, Holcomb NC, Gu L, Li GM.
J Biol Chem 284(31):20452-6. Epub 2009 Jun 12. 2009
22MSH2, MSH6
Nucleosome remodeling by hMSH2-hMSH6.
Javaid S, Manohar M, Punja N, Mooney A, Ottesen JJ, Poirier MG, Fishel R.
Mol Cell 36(6):1086-94.PMID: 20064472 2009
23MLH1, MSH2, MSH6, PMS2
Germ-line mutations in mismatch repair genes associated with prostate cancer.
Grindedal EM, Møller P, Eeles R, Stormorken AT, Bowitz-Lothe IM, Landrø SM, Clark N, Kvåle R, Shanley S, Maehle L.
Cancer Epidemiol Biomarkers Prev 18(9):2460-7. Epub 2009 Sep 1.PMID: 19723918 2009
24MLH3, MSH2, MSH3
Evidence that hMLH3 functions primarily in meiosis and in hMSH2-hMSH3 mismatch repair.
Charbonneau N, Amunugama R, Schmutte C, Yoder K, Fishel R.
Cancer Biol Ther 8(14):1411-20. Epub 2009 Jul 30. 2009
25MSH2, HNPCC1
Origins and prevalence of the American Founder Mutation of MSH2.
Clendenning M, Baze ME, Sun S, Walsh K, Liyanarachchi S, Fix D, Schunemann V, Comeras I, Deacon M, Lynch JF, Gong G, Thomas BC, Thibodeau SN, Lynch HT, Hampel H, de la Chapelle A.
Cancer Res 68(7):2145-53. 2008
26CMMRD, MLH1, MSH2, MSH6, PMS2
Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?
Wimmer K, Etzler J.
Hum Genet 124(2):105-22. Epub 2008 Aug 18. Review. 2008
27APC, BRCA1, BRCA2, CDH1, CDKN2A, MLH1, MSH2, MSH6, PMS2, PRSS1, PTEN, RB1, SPINK1, STK11, TP53
Inherited susceptibility to common cancers.
Foulkes WD.
N Engl J Med 359(20):2143-53. No abstract available. 2008
28HNPCC1, MSH2
Mechanisms of pathogenicity in human MSH2 missense mutants.
Ollila S, Dermadi Bebek D, Jiricny J, Nyström M.
Hum Mutat 29(11):1355-63. 2008
29MSH2, MLH1, HNPCC1, HNPCC2
Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer.
Baert-Desurmont S, Buisine MP, Bessenay E, Frerot S, Lovecchio T, Martin C, Olschwang S, Wang Q, Frebourg T.
Eur J Hum Genet 15(3):383-6. Epub 2007 Jan 17. 2007
30HNPCC1, HNPCC2, HNPCC3, HNPCC4, HNPCC5, HNPCC6, HNPCC7, MLH1, MSH2, MSH6, PMS2
Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer).
Vasen HF, Moslein G, Alonso A, Bernstein I, Bertario L, Blanco I, Burn J, Capella G, Engel C, Frayling I, Friedl W, Hes FJ, Hodgson S, Mecklin JP, Moller P, Nagengast F, Parc Y, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Wijnen J.
J Med Genet 44(6):353-62. Epub 2007 Feb 27. 2007
31FANCJ,MLH1,MSH2
The FANCJ/MutLalpha interaction is required for correction of the cross-link response in FA-J cells.
Peng M, Litman R, Xie J, Sharma S, Brosh RM Jr, Cantor SB.
EMBO J 26(13):3238-49. Epub 2007 Jun 21. 2007
32MSH2, WRN
Physical and functional interactions between Werner syndrome helicase and mismatch-repair initiation factors.
Saydam N, Kanagaraj R, Dietschy T, Garcia PL, Pena-Diaz J, Shevelev I, Stagljar I, Janscak P.
Nucleic Acids Res 35(17):5706-16. Epub 2007 Aug 22. 2007
33CMMRD, MLH1, MSH2, MSH6, PMS2
Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.
Poley JW, Wagner A, Hoogmans MM, Menko FH, Tops C, Kros JM, Reddingius RE, Meijers-Heijboer H, Kuipers EJ, Dinjens WN; Rotterdam Initiative on Gastrointestinal Hereditary Tumors.
Cancer 109(11):2349-56. 2007
34MSH2
Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer.
Chan TL, Yuen ST, Kong CK, Chan YW, Chan AS, Ng WF, Tsui WY, Lo MW, Tam WY, Li VS, Leung SY.
Nat Genet 38(10):1178-83. Epub 2006 Sep 3. 2006
35MSH2, HNPCC1
American founder mutation for Lynch syndrome. Prevalence estimates and implications.
Lynch HT, de la Chapelle A, Hampel H, Wagner A, Fodde R, Lynch JF, Okimoto R, Clark MB, Coronel S, Trowonou A, Fu YX, Haynatzki GR, Gong G.
Cancer 106(2):448-52. 2006
36MSH2, MSH3
Mismatch repair factor MSH2-MSH3 binds and alters the conformation of branched DNA structures predicted to form during genetic recombination.
Surtees JA, Alani E.
J Mol Biol 360(3):523-36. Epub 2006 Jun 5. 2006
37HNPCC1, HNPCC2, MSH2, MLH1
Evidence for genetic anticipation in hereditary non-polyposis colorectal cancer.
Westphalen AA, Russell AM, Buser M, Berthod CR, Hutter P, Plasilova M, Mueller H, Heinimann K.
Hum Genet 116(6):461-5. Epub 2005 Mar 17. 2005
38MSH2, MLH1, MSH6, PMS2, HNPCC1, HNPCC2, HNPCC5, HNPCC4
Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC).
van der Klift H, Wijnen J, Wagner A, Verkuilen P, Tops C, Otway R, Kohonen-Corish M, Vasen H, Oliani C, Barana D, Moller P, Delozier-Blanchet C, Hutter P, Foulkes W, Lynch H, Burn J, Moslein G, Fodde R.
Genes Chromosomes Cancer 44(2):123-38. 2005
39MSH2, MLH1, MSH6, PMS2, MLH3, PMS1, HNPCC1, HNPCC2, HNPCC5, HNPCC4, HNPCC3, HNPCC6
Lynch syndrome genes.
Peltomaki P.
Fam Cancer 4(3):227-32. Review. 2005
40MLH1, MSH2, HNPCC1, HNPCC2, ,
Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer.
Pinol V, Castells A, Andreu M, Castellvi-Bel S, Alenda C, Llor X, Xicola RM, Rodriguez-Moranta F, Paya A, Jover R, Bessa X; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association.
JAMA 293(16):1986-94. 2005
41MSH2
Bcl-2 expression suppresses mismatch repair activity through inhibition of E2F transcriptional activity.
Youn CK, Cho HJ, Kim SH, Kim HB, Kim MH, Chang IY, Lee JS, Chung MH, Hahm KS, You HJ.
Nat Cell Biol. 7(2):137-47 2005
42MSH2
Methylator-induced, mismatch repair-dependent G2 arrest is activated through Chk1 and Chk2.
Adamson AW, Beardsley DI, Kim WJ, Gao Y, Baskaran R, Brown KD.
Mol Cell Biol. 16(3):1513-26 2005
43MSH2
The DNA mismatch repair gene hMSH2 is a potent coactivator of oestrogen receptor alpha.
Wada-Hiraike O, Yano T, Nei T, Matsumoto Y, Nagasaka K, Takizawa S, Oishi H, Arimoto T, Nakagawa S, Yasugi T, Kato S, Taketani Y.
Br J Cancer. 92(12):2286-91. 2005
44MSH2
hMutS alpha is protected from ubiquitin-proteasome-dependent degradation by atypical protein kinase C zeta phosphorylation.
Hernandez-Pigeon H, Quillet-Mary A, Louat T, Schambourg A, Humbert O, Selves J, Salles B, Laurent G, Lautier D.
J Mol Biol. 348(1):63-74. 2005
45MSH2, MSH6, HMGB1
Evidence for involvement of HMGB1 protein in human DNA mismatch repair.
Yuan F, Gu L, Guo S, Wang C, Li GM.
J Biol Chem 279(20):20935-40. Epub 2004 Mar 9. 2004
46HNPCC1, HNPCC2, HNPCC3, HNPCC4, HNPCC5, HNPCC6, HNPCC7, MLH1, MSH2, MSH6, PMS2
Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database.
Peltomaki P, Vasen H.
Dis Markers 20(4-5):269-76. Review. 2004
47MSH2
The mismatch DNA repair heterodimer, hMSH2/6, regulates BLM helicase.
Yang Q, Zhang R, Wang XW, Linke SP, Sengupta S, Hickson ID, Pedrazzi G, Perrera C, Stagljar I, Littman SJ, Modrich P, Harris CC.
Oncogene. 23(21):3749-56. 2004
48MSH2
Functional and physical interactions between ERCC1 and MSH2 complexes for resistance to cis-diamminedichloroplatinum(II) in mammalian cells.
Lan L, Hayashi T, Rabeya RM, Nakajima S, Kanno S, Takao M, Matsunaga T, Yoshino M, Ichikawa M, Riele H, Tsuchiya S, Tanaka K, Yasui A.
DNA Repair (Amst). 3(2):135-43. 2004
49MSH2
Identification of germline MSH2 gene mutations in endometrial cancer not fulfilling the new clinical criteria for hereditary nonpolyposis colorectal cancer.
Banno K, Susumu N, Hirao T, Yanokura M, Hirasawa A, Aoki D, Udagawa Y, Sugano K, Nozawa S.
Cancer Genet Cytogenet 146(1):58-65. 2003
50SYT1, SSX1, PLK3, GDF15, MSH2
Gene expression profile by blocking the SYT-SSX fusion gene in synovial sarcoma cells. Identification of XRCC4 as a putative SYT-SSX target gene.
Xie Y, Tornkvist M, Aalto Y, Nilsson G, Girnita L, Nagy B, Knuutila S, Larsson O.
Oncogene 22(48):7628-31. 2003
51MSH2
Interactions of the DNA mismatch repair proteins MLH1 and MSH2 with c-MYC and MAX.
Mac Partlin M, Homer E, Robinson H, McCormick CJ, Crouch DH, Durant ST, Matheson EC, Hall AG, Gillespie DA, Brown R.
Oncogene. 22(6):819-25 2003
52MSH2
MSH2 and ATR form a signaling module and regulate two branches of the damage response to DNA methylation.
Wang Y, Qin J.
Proc Natl Acad Sci U S A. 100(26):15387-92 2003
53MSH2
The mismatch repair system is required for S-phase checkpoint activation
Brown KD, Rathi A, Kamath R, Beardsley DI, Zhan Q, Mannino JL, Baskaran R.
Nat Genet. 33(1):80-4 2003
54MSH2
Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum.
Wheeler VC, Lebel LA, Vrbanac V, Teed A, te Riele H, MacDonald ME.
Hum Mol Genet. 12(3):273-81. 2003
55MLH1, MSH2, HNPCC2
Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms.
Yuan ZQ, Gottlieb B, Beitel LK, Wong N, Gordon PH, Wang Q, Puisieux A, Foulkes WD, Trifiro M.
Hum Mutat 19(2):108-13. 2002
56MSH2
Association of p53 and MSH2 with recombinative repair complexes during S phase.
Zink D, Mayr C, Janz C, Wiesmüller L.
Oncogene. 21(31):4788-800 2002
57MLH1, MSH2
Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma.
Chadwick RB, Pyatt RE, Niemann TH, Richards SK, Johnson CK, Stevens MW, Meek JE, Hampel H, Prior TW, de la Chapelle A.
J Med Genet 38(7):461-6. No abstract available. 2001
58MSH2
The interaction of DNA mismatch repair proteins with human exonuclease I.
Schmutte C, Sadoff MM, Shim KS, Acharya S, Fishel R.
J Biol Chem. 276(35):33011-8. 2001
59HNPCC1, MSH2
Recurrent germline mutation in MSH2 arises frequently de novo.
Desai DC, Lockman JC, Chadwick RB, Gao X, Percesepe A, Evans DG, Miyaki M, Yuen ST, Radice P, Maher ER, Wright FA, de La Chapelle A.
J Med Genet 37(9):646-52. 2000
60MSH2
Expression of the human mismatch repair gene hMSH2: a potential marker for urothelial malignancy.
Leach FS, Hsieh JT, Molberg K, Saboorian MH, McConnell JD, Sagalowsky AI.
Cancer 88(10):2333-41. 2000
61BRCA1, MSH2
BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures.
Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J.
Genes Dev. 14(8):927-39. 2000
62MSH2
Identification of mismatch repair protein complexes in HeLa nuclear extracts and their interaction with heteroduplex DNA.
Matton N, Simonetti J, Williams K.
J Biol Chem. 275(23):17808-13. 2000
63MSH2
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.
Rasmussen LJ, Rasmussen M, Lee B, Rasmussen AK, Wilson DM 3rd, Nielsen FC, Bisgaard HC.
Mutat Res. 460(1):41-52. 2000
64HNPCC1, MLH1, MSH2
Family history characteristics, tumor microsatellite instability and germline MSH2 and MLH1 mutations in hereditary colorectal cancer.
Bapat BV, et al.
Hum Genet 104(2):167-76. 1999
65MSH2, TP53
Close correlation between a p53 or hMSH2 gene mutation in the tumor and survival of hepatocellular carcinoma patients.
Yano M, et al.
Int J Oncol 14(3):447-51. 1999
66MSH2
Germline hMSH2 and differential somatic mutations in patients with Turcot's syndrome.
Chan TL, et al.
Genes Chromosomes Cancer 25(2):75-81. 1999
67MSH2, MLH1
Immunocytochemical detection of hMSH2 and hMLH1 expression in oral SCC.
Lo Muzio L, et al.
Anticancer Res 19(2A):933-40. 1999
68MLH1, MSH6, PMS1, PMS2, MSH2
Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.
Wang Q, et al.
Hum Genet 105(1-2):79-85. 1999
69MLH1, MSH2
Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2.
Genuardi M, et al.
Eur J Hum Genet 7(7):778-82 1999
70HNPCC1, MSH2
A proven de novo germline mutation in HNPCC.
Kraus C, Kastl S, Gunther K, Klessinger S, Hohenberger W, Ballhausen WG.
J Med Genet 36(12):919-21 1999
71D2S123, D2S1248, D2S2153, D2S2227, D2S2251, D2S2292, D2S2378, D2S391, FSHR, LHCGR, MSH2, MSH6, PIGF, RPS27A, SPTBN1, VRK2
Genomic mapping of chromosomal region 2p15-p21 (D2S378-D2S391): integration of Genemap'98 within a framework of yeast and bacterial artificial chromosomes.
Kirschner LS, Taymans SE, Pack S, Pak E, Pike BL, Chandrasekharappa SC, Zhuang Z, Stratakis CA.
Genomics 62(1):21-33 1999
72MLH1, MSH2
Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility.
Genuardi M, Viel A, Bonora D, Capozzi E, Bellacosa A, Leonardi F, Valle R, Ventura A, Pedroni M, Boiocchi M, Neri G.
Hum Genet 102(1):15-20. 1998
73MSH2
Promoter analysis of the human mismatch repair gene hMSH2.
Iwahashi Y, et al.
Gene 213 : 141-147. 1998
74HNPCC1, MLH1, MSH2
Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.
Farrington SM, et al.
Am J Hum Genet 63 : 749-759. 1998
75APC, BRCA1, DPP4, MLH1, MSH2, MSH6, NF1, PMS2, RB1, TP53, VHL, WT1, FAP
Tumour suppressor gene mutations in humans and mice : parallels and contrasts.
Hooper ML.
EMBO J 17(23):6783-9. 1998
76EXO1, MSH2
Human exonuclease I interacts with the mismatch repair protein hMSH2.
Schmutte C, Marinescu RC, Sadoff MM, Guerrette S, Overhauser J, Fishel R.
Cancer Res 58 : 4537-4542. 1998
77MSH6, HNPCC1, MSH2, MTS
Refined chromosomal localization of the mismatch repair and hereditary nonpolyposis colorectal cancer genes hMSH2 and hMSH6.
Schmutte C, et al.
Cancer Res 58 : 5023-5026. 1998
78MSH6, MLH1, MSH2, MSH3
Allelic losses and DNA methylation at DNA mismatch repair loci in sporadic colorectal cancer.
Benachenhou N, et al.
Carcinogenesis 19 : 1925-1929. 1998
79MSH2
Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer.
Guerrette S, Wilson T, Gradia S, Fishel R.
Mol Cell Biol. 18(11):6616-23. 1998
80MSH2
Mouse embryonic stem cells carrying one or two defective Msh2 alleles respond abnormally to oxidative stress inflicted by low-level radiation.
DeWeese TL, Shipman JM, Larrier NA, Buckley NM, Kidd LR, Groopman JD, Cutler RG, te Riele H, Nelson WG.
Proc Natl Acad Sci U S A. 95(20):11915-20. 1998
81HNPCC1, MLH1, MSH2
Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.
Viel A, et al.
Genes Chromosomes Cancer 18 : 8-18. 1997
82HNPCC1, MLH1, MSH2
Mutations in MLH1 are more frequent than in MSH2 in sporadic colorectal cancers with microsatellite instability.
Herfarth KKF, et al.
Genes Chromosomes Cancer 18 : 42-49. 1997
83HNPCC1, MSH2
Identification of a one-base germline deletion (codon 888 del C) and an intron splice acceptor site polymorphism in hMSH2.
Swensen J, Lewis CM, Cannon-Albright LA.
Hum Mutat 10(1):80-1. 1997
84MSH2
Mutational analysis of the hMSH2 gene in a wide variety of tumors.
Hatta Y, et al.
Int J Oncol 11 : 465-469. 1997
85HNPCC1, HNPCC3, HNPCC4, MLH1, MSH2, PMS1, PMS2
Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.
Wijnen J, Khan PM, Vasen H, van der Klift H, Mulder A, van Leeuwen-Cornelisse I, Bakker B, Losekoot M, Moller P, Fodde R.
Am J Hum Genet 61(2):329-35. 1997
86HNPCC1, MLH1, MSH2
Hereditary nonpolyposis colorectal cancer (HNPCC) : eight novel germline mutations in hMSH2 or hMLH1 gene.
Wehner M, Buschhausen L, Lamberti C, Kruse R, Caspari R, Propping P, Friedl W.
Hum Mutat 10(3):241-4. 1997
87HNPCC1, MLH1, MSH2
Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer.
Peltomaki P, Vasen HF.
Gastroenterology 113(4):1146-58. 1997
88MSH6, MSH2
The human mismatch recognition complex hMSH2-hMSH6 functions as a novel molecular switch.
Gradia S, Acharya S, Fishel R.
Cell 91(7):995-1005. 1997
89MSH6, MSH2
Genetic and biochemical analysis of Msh2p-Msh6p : role of ATP hydrolysis and Msh2p-Msh6p subunit interactions in mismatch base pair recognition.
Alani E, et al.
Mol Cell Biol 17 : 2436-2447. 1997
90MSH2, MSH3, MSH6
MutS homologs in mammalian cells.
Fishel R, Wilson T.
Curr Opin Genet Dev 7(1):105-13. Review. 1997
91MSH2
Microsatellite instability in human solid tumors.
Lothe RA.
Mol Med Today 3(2):61-8. Review. 1997
92MSH2
Mutations predisposing to hereditary nonpolyposis colorectal cancer.
Peltomaki P, de la Chapelle A.
Adv Cancer Res 71:93-119. Review. 1997
93MSH2
Defects of the mismatch repair gene MSH2 are implicated in the development of murine and human lymphoblastic lymphomas and are associated with the aberrant expression of rhombotin-2 (Lmo-2) and Tal-1 (SCL).
Lowsky R, DeCoteau JF, Reitmair AH, Ichinohasama R, Dong WF, Xu Y, Mak TW, Kadin ME, Minden MD.
Blood. 89(7):2276-82. 1997
94MSH2
Isolation and characterization of the human mismatch repair gene hMSH2 promoter region.
Scherer S, et al.
Hum Genet 97 : 114-116. 1996
95MSH2, MLH1, PMS1, PMS2, HNPCC1, HNPCC2, HNPCC3, HNPCC4
Analysis of mismatch repair genes in hereditary non-polyposis colorectalcancer patients.
Liu B, et al.
Nat Med 2 : 169-174. 1996
96MSH2
A truncated hMSH2 transcript occurs as a common variant in the population : implications for genetic diagnosis.
Xia L, et al.
Cancer Res 56 : 2289-2292. 1996
97MSH6, MSH2
Human MutSalpha recognizes damaged DNA base pairs containing O6-methylguanine, O4-methylthymine, or the cisplatin-d(GpG) adduct.
Duckett DR, et al.
Proc Natl Acad Sci U S A 93 : 6443-6447. 1996
98MSH2, HNPCC1
Mutation of the hMSH2 gene in two families with hereditary nonpolyposis colorectal cancer.
Jeon HM, et al.
Hum Mutat 7 : 327-333. 1996
99HNPCC1, HNPCC2, MLH1, MSH2
Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer.
Moslein G, et al.
Hum Mol Genet 5 : 1245-1252. 1996
100HNPCC1, HNPCC2, MLH1, MSH2
Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome.
Froggatt NJ, et al.
J Med Genet 33 : 726-730. 1996
101MSH2, MTS
Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene ?
Kruse R, et al.
Hum Genet 98 : 747-750. 1996
102HNPCC1, HNPCC2, MLH1, MSH2
Allele loss occurs frequently at hMLH1, but rarely at hMSH2, in sporadic colorectal cancers with microsatellite instability.
Tomlinson IPM, et al.
Br J Cancer 74 : 1514-1517. 1996
103MSH2, MSH3, MSH6
hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6.
Acharya S, Wilson T, Gradia S, Kane MF, Guerrette S, Marsischky GT, Kolodner R, Fishel R.
Proc Natl Acad Sci U S A 93(24):13629-34. 1996
104HNPCC1, HNPCC2, MLH1, MSH2
Founding mutations and alu-mediated recombination in hereditary colon cancer.
Nystršm-Lahti M, et al.
Nat Med 1 : 1203-1206. 1995
105MSH2, HNPCC1
Somatic mutations in the hMSH2 gene in microsatellite unstable colorectal carcinomas.
Bšrresen AL, et al.
Hum Mol Genet 4 : 2065-2072. 1995
106MSH2, HNPCC1, HNPCC2, MLH1
Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC) : usefulness of DNA analysis for screening and diagnosis of HNPCC patients.
Miyaki M, et al.
J Mol Med 73 : 515-520. 1995
107MSH2
Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis.
Wijnen J, et al.
Am J Hum Genet 56 : 1060-1O66. 1995
108MSH2
Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer.
de Wind N, Dekker M, Berns A, Radman M, te Riele H.
Cell. 82(2):321-30. 1995
109MSH2
MSH2 deficient mice are viable and susceptible to lymphoid tumours.
Reitmair AH, Schmits R, Ewel A, Bapat B, Redston M, Mitri A, Waterhouse P, Mittrücker HW, Wakeham A, Liu B, et al.
Nat Genet. 11(1):64-70. 1995
110HNPCC1, MSH2
Mismatch repair and cancer.
Palombo F, et al.
Nature 367 : 417. 1994
111MLH1, PMS1, MSH2
MLH1, PMS1, and MSH2 interactions during the initiation of DNA mismatch repair in yeast.
Prolla TA, et al.
Science 265 : 1091-1093. 1994
112MSH2, HNPCC1
hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds.
Liu B, et al.
Cancer Res 54 : 4590-4594. 1994
113MSH2, MLH1, HNPCC1, HNPCC2
Mismatch repair genes on chromosomes 2p and 3p account for a major share of hereditary nonpolyposis colorectal cancer families evaluable by linkage.
Nystršm-Lahti M, et al.
Am J Hum Genet 55 : 659-665. 1994
114HNPCC1, MSH2
Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development.
Mary JL, et al.
Hum Mol Genet 3 : 2067-2069. 1994
115HNPCC1, MSH2
DGGE polymorphism in intron 10 of MSH2, the HNPCC gene.
Wijnen J, et al.
Hum Mol Genet 3 : 2268. 1994
116HNPCC1, MSH2
Accumulation of multiple mutations in tumour suppressor genes during colorectal tumorigenesis in HNPCC patients.
Lazar V, et al.
Hum Mol Genet 3 : 2257-2260. 1994
117MTS, MSH2
Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations.
Kolodner RD, et al.
Genomics 24 : 516-526. 1994
118HNPCC1, MSH2
Intron splice acceptor site sequence variation in the hereditary non-polyposis colorectal cancer gene hMSH2.
Hall NR, et al.
Eur J Cancer 30A : 1550-1552. 1994
119HNPCC1, MSH2
The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer.
Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R.
Cell 77(1):167. No abstract available. 1994
120MSH2
Purified human MSH2 protein binds to DNA containing mismatched nucleotides.
Fishel R, Ewel A, Lescoe MK.
Cancer Res. 54(21):5539-42. 1994
121HNPCC1, MSH2
Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer.
Leach FS, et al.
Cell 75 : 1215-1225. 1993
122HNPCC1, MSH2
Hypermutability and mismatch repair deficiency in RER+ tumor cells.
Parsons R, et al.
Cell 75 : 1227-1236. 1993
123MLH1, MSH2
Missing mismatch repair.
Radman M, et al.
Nature 366 : 722. 1993
124HNPCC1, MSH2
Genetic mapping of a locus predisposing to human colorectal cancer.
Peltomaki P, Aaltonen LA, Sistonen P, Pylkkanen L, Mecklin JP, Jarvinen H, Green JS, Jass JR, Weber JL, Leach FS, et al.
Science 260(5109):810-2. 1993
125HNPCC1, HNPCC2, MLH1, MSH2
Mutator phenotype may be required for multistage carcinogenesis.
Loeb LA.
Cancer Res 51 : 3075-3079. 1991