| 1 | HNPCC1, 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
|
| 2 | HNPCC2, 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
|
| 3 | HNPCC2, 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
|
| 4 | MLH1, 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
|
| 5 | MLH1, 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
|
| 6 | MSH2, 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
|
| 7 | HNPCC1, 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
|
| 8 | HNPCC2, 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
|
| 9 | HNPCC1, 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
|
| 10 | MSH2, 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
|
| 11 | MSH2, MLH1, MSH6, PMS2, MLH3, PMS1, HNPCC1, HNPCC2, HNPCC5, HNPCC4, HNPCC3, HNPCC6
|
| Lynch syndrome genes.
|
| Peltomaki P.
|
| Fam Cancer 4(3):227-32. Review. 2005
|
| 12 | MLH1, 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
|
| 13 | MLH1, 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
|
| 14 | HNPCC1, 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
|
| 15 | HNPCC1, HNPCC2, HNPCC3, HNPCC4, FAP, MUTYH, MAP
|
| An update on the genetics of colorectal cancer.
|
| Kemp Z, Thirlwell C, Sieber O, Silver A, Tomlinson I.
|
| Hum Mol Genet 13 Spec No 2:R177-85. Review. 2004
|
| 16 | HNPCC1, 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
|
| 17 | MLH1, 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
|
| 18 | HNPCC1, HNPCC2, HNPCC3, HNPCC4, HNPCC5, HNPCC6, HNPCC7
|
| Deficient DNA mismatch repair: a common etiologic factor for colon cancer.
|
| Peltomaki P.
|
| Hum Mol Genet 10(7):735-40. Review. 2001
|
| 19 | MSH6, HNPCC2, HNPCC5, MSH3
|
| Mutation of hMSH3 and hMSH6 mismatch repair genes in genetically unstable human colorectal and gastric carcinomas.
|
| Yin J, Kong D, Wang S, Zou TT, Souza RF, Smolinski KN, Lynch PM, Hamilton SR, Sugimura H, Powell SM, Young J, Abraham JM, Meltzer SJ.
|
| Hum Mutat 10(6):474-8. 1997
|
| 20 | MLH1, 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
|
| 21 | MSH2, 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
|
| 22 | HNPCC1, 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
|
| 23 | HNPCC1, 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
|
| 24 | HNPCC1, 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
|
| 25 | HNPCC1, 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
|
| 26 | HNPCC2, 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
|
| 27 | HNPCC2, 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
|
| 28 | HNPCC1, HNPCC2, MLH1, MSH2
|
| Founding mutations and alu-mediated recombination in hereditary colon cancer.
|
| Nystršm-Lahti M, et al.
|
| Nat Med 1 : 1203-1206. 1995
|
| 29 | MSH2, 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
|
| 30 | HNPCC2, 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
|
| 31 | HNPCC1, HNPCC2
|
| Genetic linkage analysis in hereditary non-polyposis colon cancer syndrome.
|
| Froggatt NJ, et al.
|
| J Med Genet 32 : 352-357. 1995
|
| 32 | MLH1, HNPCC2
|
| Mutation of a mutL homolog in hereditary colon cancer.
|
| Papadopoulos N, et al.
|
| Science 263 : 1625-1629. 1994
|
| 33 | MLH1, 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
|
| 34 | HNPCC1, HNPCC2
|
| Microsatellite instability in Muir-Torre syndrome.
|
| Honchel R, et al.
|
| Cancer Res 54 : 1159-1163. 1994
|
| 35 | HNPCC1, HNPCC2
|
| Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients.
|
| Aaltonen LA, et al.
|
| Cancer Res 54 : 1645-1648. 1994
|
| 36 | HNPCC2
|
| Close linkage to chromosome 3p and conservation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer families.
|
| Nystršm-Lahti M, et al.
|
| Proc Natl Acad Sci U S A 91 : 6054-6058. 1994
|
| 37 | HNPCC2
|
| Sublocalization of a locus at 3p21.3-23 predisposing to hereditary nonpolyposis colon cancer.
|
| Tannergard P, et al.
|
| Hum Genet 94 : 210-214. 1994
|
| 38 | MSH2, 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
|
| 39 | MLH1, 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
|
| 40 | HNPCC2
|
| Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer.
|
| Lindblom A, et al.
|
| Nat Genet 5 : 279-283. 1993
|
| 41 | HNPCC1, HNPCC2, MLH1, MSH2
|
| Mutator phenotype may be required for multistage carcinogenesis.
|
| Loeb LA.
|
| Cancer Res 51 : 3075-3079. 1991
|
| 42 | HNPCC2
|
| Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II) : II. Biomarker studies.
|
| Lynch HT, et al.
|
| Cancer 56 : 939-951. 1985
|