Citations for
1MLH1, MLH3, MSH1, MSH3
Mlh1-Mlh3, a meiotic crossover and DNA mismatch repair factor, is a Msh2-Msh3-stimulated endonuclease.
Rogacheva MV, Manhart CM, Chen C, Guarne A, Surtees J, Alani E.
J Biol Chem 289(9):5664-73. doi: 10.1074/jbc.M113.534644. Epub 2014 Jan 8. 2014
2MLH1, 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
3MLH1, 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
4MLH1
Intensity-dependent constitutional MLH1 promoter methylation leads to early onset of colorectal cancer by affecting both alleles.
Auclair J, Vaissière T, Desseigne F, Lasset C, Bonadona V, Giraud S, Saurin JC, Joly MO, Leroux D, Faivre L, Audoynaud C, Montmain G, Ruano E, Herceg Z, Puisieux A, Wang Q.
Genes Chromosomes Cancer 50(3):178-85. doi: 10.1002/gcc.20842. Epub 2010 Dec 9. 2011
5LRRFIP2, MLH1
A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families.
Pinheiro M, Pinto C, Peixoto A, Veiga I, Mesquita B, Henrique R, Baptista M, Fragoso M, Sousa O, Pereira H, Marinho C, Moreira Dias L, Teixeira MR.
Genet Med 13(10):895-902. 2011
6LRRFIP2, MLH1
Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.
Morak M, Koehler U, Schackert HK, Steinke V, Royer-Pokora B, Schulmann K, Kloor M, Höchter W, Weingart J, Keiling C, Massdorf T, Holinski-Feder E; German HNPCC consortium.
J Med Genet 48(8):513-9. Epub 2011 Jun 28. 2011
7CMMRD, MLH1
Role for genetic anticipation in Lynch syndrome.
Nilbert M, Timshel S, Bernstein I, Larsen K.
J Clin Oncol 27(3):360-4. Epub 2008 Dec 15. 2009
8MLH1
Polymorphisms of MLH1 in benign prostatic hyperplasia and sporadic prostate cancer.
Tanaka Y, Zaman MS, Majid S, Liu J, Kawakami K, Shiina H, Tokizane T, Dahiya AV, Sen S, Nakajima K.
Biochem Biophys Res Commun 383(4):440-4. Epub 2009 Apr 11. 2009
9HNPCC1, HNPCC2, MLH1, TACSTD1
Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.
Niessen RC, Hofstra RM, Westers H, Ligtenberg MJ, Kooi K, Jager PO, de Groote ML, Dijkhuizen T, Olderode-Berends MJ, Hollema H, Kleibeuker JH, Sijmons RH.
Genes Chromosomes Cancer 48(8):737-44.PMID: 19455606 2009
10HNPCC2, MLH1
Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer.
Hitchins MP, Ward RL.
J Med Genet 46(12):793-802. Epub 2009 Jun 29. 2009
11EPCAM, MLH1
Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.
Niessen RC, Hofstra RM, Westers H, Ligtenberg MJ, Kooi K, Jager PO, de Groote ML, Dijkhuizen T, Olderode-Berends MJ, Hollema H, Kleibeuker JH, Sijmons RH.
Genes Chromosomes Cancer 48(8):737-44.PMID: 19455606 2009
12HNPCC2, HNPCC4, MLH1, PMS2
Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancer.
Montazer Haghighi M, Radpour R, Aghajani K, Zali N, Molaei M, Zali MR.
Int J Colorectal Dis 24(8):885-93. Epub 2009 May 29.PMID: 19479271 2009
13MLH1, 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
14CTDSPL, MLH1
Frequent alterations of hMLH1 and RBSP3/HYA22 at chromosomal 3p22.3 region in early and late-onset breast carcinoma: clinical and prognostic significance.
Sinha S, Singh RK, Alam N, Roy A, Roychoudhury S, Panda CK.
Cancer Sci 99(10):1984-91. 2008
15MLH1
Evidence that a mutation in the MLH1 3'-untranslated region confers a mutator phenotype and mismatch repair deficiency in patients with relapsed leukemia.
Mao G, Pan X, Gu L.
J Biol Chem 283(6):3211-6. Epub 2007 Dec 4. 2008
16CMMRD, 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
17APC, 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
18MLH1, RAD9A
Rad9 plays an important role in DNA mismatch repair through physical interaction with MLH1.
He W, Zhao Y, Zhang C, An L, Hu Z, Liu Y, Han L, Bi L, Xie Z, Xue P, Yang F, Hang H.
Nucleic Acids Res 36(20):6406-17. Epub 2008 Oct 8. 2008
19BHLHE40, BHLHE41, MLH1
Human mismatch repair gene, MLH1, is transcriptionally repressed by the hypoxia-inducible transcription factors, DEC1 and DEC2.
Nakamura H, Tanimoto K, Hiyama K, Yunokawa M, Kawamoto T, Kato Y, Yoshiga K, Poellinger L, Hiyama E, Nishiyama M.
Oncogene 27(30):4200-9. Epub 2008 Mar 17. 2008
20DLEC1, MLH1
DLEC1 and MLH1 promoter methylation are associated with poor prognosis in non-small cell lung carcinoma.
Seng TJ, Currey N, Cooper WA, Lee CS, Chan C, Horvath L, Sutherland RL, Kennedy C, McCaughan B, Kohonen-Corish MR.
Br J Cancer 99(2):375-82. Epub 2008 Jul 1.PMID: 18594535 2008
21MLH1, HNPCC2
MLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancer.
Valle L, Carbonell P, Fernandez V, Dotor A, Sanz M, Benitez J, Urioste M.
Clin Genet 71(3):232-7. 2007
22MLH1, HNPCC2
Mechanisms of inactivation of MLH1 in hereditary nonpolyposis colorectal carcinoma: a novel approach.
Ollikainen M, Hannelius U, Lindgren CM, Abdel-Rahman WM, Kere J, Peltomaki P.
Oncogene [Epub ahead of print] 2007
23MSH2, 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
24HNPCC1, 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
25FANCJ,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
26CMMRD, 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
27HNPCC2, MLH1
Mismatch repair polymorphisms and colorectal polyps: hMLH1-93G>A variant modifies risk associated with smoking.
Yu JH, Bigler J, Whitton J, Potter JD, Ulrich CM.
Am J Gastroenterol 101(6):1313-9. 2006
28HNPCC1, 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
29MTS2, MLH1
Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas: role of clinical features, microsatellite instability, and immunohistochemistry.
Ponti G, Losi L, Di Gregorio C, Roncucci L, Pedroni M, Scarselli A, Benatti P, Seidenari S, Pellacani G, Lembo L, Rossi G, Marino M, Lucci-Cordisco E, de Leon MP.
Cancer 103(5):1018-25. 2005
30MSH2, 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
31MSH2, MLH1, MSH6, PMS2, MLH3, PMS1, HNPCC1, HNPCC2, HNPCC5, HNPCC4, HNPCC3, HNPCC6
Lynch syndrome genes.
Peltomaki P.
Fam Cancer 4(3):227-32. Review. 2005
32MLH1, HNPCC2
MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer.
Hitchins M, Williams R, Cheong K, Halani N, Lin VA, 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 129(5):1392-9. 2005
33MLH1, 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
34HNPCC1, 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
35MLH1, MSH3
Loss of MSH3 protein expression is frequent in MLH1-deficient colorectal cancer and is associated with disease progression.
Plaschke J, Krüger S, Jeske B, Theissig F, Kreuz FR, Pistorius S, Saeger HD, Iaccarino I, Marra G, Schackert HK.
Cancer Res 64(3):864-70. 2004
36MLH1
Methylation profile of the MLH1 promoter region and their relationship to colorectal carcinogenesis
Miyakura Y, Sugano K, Konishi F, Fukayama N, Igarashi S, Kotake K, Matsui T, Koyama Y, Maekawa M, Nagai H.
Genes Chromosomes Cancer 36(1):17-25. 2003
37HNPCC1, MLH1, HNPCC2
Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.
Taylor CF, Charlton RS, Burn J, Sheridan E, Taylor GR.
Hum Mutat 22(6):428-33. 2003
38MLH1, 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
39MLH1
Association of Crohn's disease and ulcerative colitis with haplotypes of the MLH1 gene in Italian inflammatory bowel disease patients.
Annese V, Piepoli A, Andriulli A, Latiano A, Napolitano G, Li HH, Forabosco P, Devoto M.
J Med Genet 39(5):332-4. No abstract available. 2002
40CDKN2A, DLC1, EXT1, MLH1, PTEN, RB1, TP53, TP73
Molecular pathogenesis of human hepatocellular carcinoma.
Thorgeirsson SS, Grisham JW.
Nat Genet 31(4):339-46. 2002
41MLH1, MLH3, PMS1, PMS2
The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2.
Kondo E, Horii A, Fukushige S.
Nucleic Acids Res 29(8):1695-702. 2001
42MLH1, 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
43HNPCC1, 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
44MLH1
MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers.
Simpkins SB, et al.
Hum Mol Genet 8(4):661-6. 1999
45MLH1
Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.
Ricciardone MD, et al.
Cancer Res 59(2):290-3. 1999
46MLH1
Neurofibromatosis and early onset of cancers in hMLH1-deficient children.
Wang Q, et al.
Cancer Res 59(2):294-7. 1999
47MLH1, MSH3
Frequent loss of heterozygosity at the DNA mismatch-repair loci hMLH1 and hMSH3 in sporadic breast cancer.
Benachenhou N, et al.
Br J Cancer 79(7-8):1012-7. 1999
48MLH1, PMS2
The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.
Guerrette S, et al.
J Biol Chem 274(10):6336-41. 1999
49MLH1
A core promoter and a frequent single-nucleotide polymorphism of the mismatch repair gene hMLH1.
Ito E, et al.
Biochem Biophys Res Commun 256(3):488-94. 1999
50MLH1, PMS2L1, PMS2L15, PMS2L14, PMS2L16
The human PMS2L proteins do not interact with hMLH1, a major DNA mismatch repair protein.
Kondo E, et al.
J Biochem (Tokyo) 125(4):818-25. 1999
51MSH2, MLH1
Immunocytochemical detection of hMSH2 and hMLH1 expression in oral SCC.
Lo Muzio L, et al.
Anticancer Res 19(2A):933-40. 1999
52MLH1, 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
53MLH1
Mechanisms of inactivation of mismatch repair genes in human colorectal cancer cell lines: The predominant role of hMLH1.
Wheeler JM, et al.
Proc Natl Acad Sci U S A 96(18):10296-10301. 1999
54MLH1, 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
55MLH1, 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
56MLH1, MSH3, TSG3B, TSG5B
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, et al.
Int J Cancer 77 : 173-180. 1998
57HNPCC1, 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
58APC, 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
59MSH6, 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
60ATM, ATR, BLM, MLH1, RAD51, RPA1, RPA2, RPA3
Changes in protein composition of meiotic nodules during mammalian meiosis.
Plug AW, et al.
J Cell Sci 111 ( Pt 4):413-23. 1998
61HNPCC1, 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
62HNPCC1, 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
63HNPCC1, HNPCC3, HNPCC4, MLH1, MHS2, PMS1, PMS2
Molecular basis of HNPCC: mutations of MMR genes.
Papadopoulos N, Lindblom A.
Hum Mutat 10(2):89-99. 1997
64MLH1
Hereditary nonpolyposis colorectal cancer: causative role of a germline missense mutation in the hMLH1 gene confirmed by the independent occurrence of the same somatic mutation in tumour tissue.
Wang Y, Friedl W, Lamberti C, Ruelfs C, Kruse R, Propping P.
Hum Genet 100(3-4):362-4. 1997
65HNPCC1, 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
66HNPCC1, 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
67MLH1
A human compound heterozygote for two MLH1 missense mutations.
Hackman P, Tannergard P, Osei-Mensa S, Chen J, Kane MF, Kolodner R, Lambert B, Hellgren D, Lindblom A.
Nat Genet 17(2):135-6. 1997
68HNPCC1, 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
69MLH1, HNPCC2
Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16.
Wijnen J, et al.
Am J Hum Genet 58 : 300-307. 1996
70MSH2, 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
71MLH1
Somatic mutations of a human mismatch repair gene, hMLH1, in tumors from patients with multiple primary cancers.
Sasaki S, et al.
Hum Mutat 7 : 275-278. 1996
72HNPCC1, HNPCC2, MLH1, MHS2
DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer.
Nystršm-Lahti M, et al.
Hum Mol Genet 5 : 763-769. 1996
73HNPCC1, 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
74HNPCC1, 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
75MLH1
Frameshift mutation at codon 642 of the hMLH1 gene in human endometrial cancer.
Fukushige S, et al.
Hum Mutat 8 : 394. 1996
76HNPCC1, 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
77HNPCC2, MLH1
Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer.
Mauillon JL, et al.
Cancer Res 56 : 5728-5733. 1996
78HNPCC2, MLH1
Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC).
Han HJ, et al.
Hum Mol Genet 4 : 237-242. 1995
79HNPCC1, HNPCC2, MLH1, MSH2
Founding mutations and alu-mediated recombination in hereditary colon cancer.
Nystršm-Lahti M, et al.
Nat Med 1 : 1203-1206. 1995
80MSH2, 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
81HNPCC2, MLH1
Strucutre of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations.
Kolodner RD, et al.
Cancer Res 55 : 242-248. 1995
82APC, MLH1, MHS2, PMS2, FAP
The molecular basis of Turcot's syndrome.
Hamilton SR, et al.
N Engl J Med 332 : 839-847. 1995
83MLH1
Alternative splicing of MLH1 messenger RNA in human normal cells.
Charbonnier F, et al.
Cancer Res 55 : 1839-1841. 1995
84MLH1, HNPCC2
Mutation of a mutL homolog in hereditary colon cancer.
Papadopoulos N, et al.
Science 263 : 1625-1629. 1994
85MLH1, HNPCC2
Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.
Bronner CE, et al.
Nature 368 : 258-261. 1994
86MLH1, 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
87MLH1
Human chromosome 3 corrects mismatch repair deficiency and microsatellite instability and reduces N-Methyl-N'-nitro-N-nitrosoguanidine tolerance in colon tumor cells with homozygous hMLH1 mutation.
Koi M, et al.
Cancer Res 54 : 4308-4312. 1994
88MSH2, 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
89MLH1, HNPCC2
Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer.
Hemminki A, et al.
Nat Genet 8 : 405-410. 1994
90MTS2, MLH1
Muir-Torre syndrome: a variant of the cancer family syndrome.
Hall NR, Williams MA, Murday VA, Newton JA, Bishop DT.
J Med Genet 31(8):627-31. 1994
91MLH1, MSH2
Missing mismatch repair.
Radman M, et al.
Nature 366 : 722. 1993
92HNPCC1, HNPCC2, MLH1, MSH2
Mutator phenotype may be required for multistage carcinogenesis.
Loeb LA.
Cancer Res 51 : 3075-3079. 1991