| 1 | HNPCC1, MSH2
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| A cryptic paracentric inversion of MSH2 exons 2-6 causes Lynch syndrome.
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| Liu Q, Hesson LB, Nunez AC, Packham D, Williams R, Ward RL, Sloane MA.
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| Carcinogenesis 37(1):10-7. doi: 10.1093/carcin/bgv154. Epub 2015 Oct 24.
2016
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| 2 | EPCAM, HNPCC1
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| Recurrence and variability of germline EPCAM deletions in Lynch syndrome.
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| Kuiper RP, Vissers LE, Venkatachalam R, Bodmer D, Hoenselaar E, Goossens M, Haufe A, Kamping E, Niessen RC, Hogervorst FB, Gille JJ, Redeker B, Tops CM, van Gijn ME, van den Ouweland AM, Rahner N, Steinke V, Kahl P, Holinski-Feder E, Morak M, Kloor M, Stemmler S, Betz B, Hutter P, Bunyan DJ, Syngal S, Culver JO, Graham T, Chan TL, Nagtegaal ID, van Krieken JH, Schackert HK, Hoogerbrugge N, van Kessel AG, Ligtenberg MJ.
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| Hum Mutat 32(4):407-14. doi: 10.1002/humu.21446. Epub 2011 Mar 1. 2011
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| 3 | HNPCC1, MSH2, MTS
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| A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome.
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| Perera S, Ramyar L, Mitri A, Pollett A, Gallinger S, Speevak MD, Aronson M, Bapat B.
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| J Hum Genet 55(1):37-41. Epub 2009 Nov 13.PMID: 19911012 2010
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| 4 | EPCAM, HNPCC1
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| Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome.
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| Kovacs ME, Papp J, Szentirmay Z, Otto S, Olah E.
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| Hum Mutat 30(2):197-203. 2009
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| 5 | HNPCC1, HNPCC2, MLH1, TACSTD1
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| Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.
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| 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.
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| Genes Chromosomes Cancer 48(8):737-44.PMID: 19455606 2009
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| 6 | MSH2, HNPCC1
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| Origins and prevalence of the American Founder Mutation of MSH2.
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| 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.
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| Cancer Res 68(7):2145-53. 2008
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| 7 | HNPCC1, MSH2
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| Mechanisms of pathogenicity in human MSH2 missense mutants.
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| Ollila S, Dermadi Bebek D, Jiricny J, Nyström M.
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| Hum Mutat 29(11):1355-63.
2008
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| 8 | MSH2, MLH1, HNPCC1, HNPCC2
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| Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer.
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| Baert-Desurmont S, Buisine MP, Bessenay E, Frerot S, Lovecchio T, Martin C, Olschwang S, Wang Q, Frebourg T.
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| Eur J Hum Genet 15(3):383-6. Epub 2007 Jan 17. 2007
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| 9 | HNPCC1, HNPCC2, HNPCC3, HNPCC4, HNPCC5, HNPCC6, HNPCC7, MLH1, MSH2, MSH6, PMS2
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| Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer).
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| 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.
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| J Med Genet 44(6):353-62. Epub 2007 Feb 27. 2007
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| 10 | HNPCC1, HNPCC2, HNPCC3, HNPCC4, HNPCC5, HNPCC6, HNPCC7
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| Constitutive deficiency in DNA mismatch repair: is it time for Lynch III?
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| Felton K, Gilchrist D, Andrew S.
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| Clin Genet 71(6):499-500. 2007
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| 11 | HNPCC1, HNPCC2, HNPCC3, HNPCC4, HNPCC5, HNPCC6, HNPCC7
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| Constitutive deficiency in DNA mismatch repair.
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| Felton K, Gilchrist D, Andrew S.
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| Clin Genet 71(6):483-98. 2007
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| 12 | MSH2, HNPCC1
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| American founder mutation for Lynch syndrome. Prevalence estimates and implications.
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| 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.
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| Cancer 106(2):448-52. 2006
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| 13 | HNPCC1, HNPCC2, MSH2, MLH1
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| Evidence for genetic anticipation in hereditary non-polyposis colorectal cancer.
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| Westphalen AA, Russell AM, Buser M, Berthod CR, Hutter P, Plasilova M, Mueller H, Heinimann K.
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| Hum Genet 116(6):461-5. Epub 2005 Mar 17. 2005
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| 14 | MSH2, MLH1, MSH6, PMS2, HNPCC1, HNPCC2, HNPCC5, HNPCC4
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| 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).
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| 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.
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| Genes Chromosomes Cancer 44(2):123-38. 2005
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| 15 | MSH2, MLH1, MSH6, PMS2, MLH3, PMS1, HNPCC1, HNPCC2, HNPCC5, HNPCC4, HNPCC3, HNPCC6
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| Lynch syndrome genes.
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| Peltomaki P.
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| Fam Cancer 4(3):227-32. Review. 2005
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| 16 | MLH1, MSH2, HNPCC1, HNPCC2, ,
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| Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer.
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| 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.
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| JAMA 293(16):1986-94. 2005
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| 17 | HNPCC1, HNPCC2, HNPCC3, HNPCC4, HNPCC5, HNPCC6, HNPCC7, MLH1, MSH2, MSH6, PMS2
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| Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database.
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| Peltomaki P, Vasen H.
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| Dis Markers 20(4-5):269-76. Review. 2004
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| 18 | HNPCC1, HNPCC2, HNPCC3, HNPCC4, FAP, MUTYH, MAP
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| An update on the genetics of colorectal cancer.
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| Kemp Z, Thirlwell C, Sieber O, Silver A, Tomlinson I.
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| Hum Mol Genet 13 Spec No 2:R177-85. Review. 2004
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| 19 | HNPCC1, MLH1, HNPCC2
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| Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.
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| Taylor CF, Charlton RS, Burn J, Sheridan E, Taylor GR.
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| Hum Mutat 22(6):428-33. 2003
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| 20 | HNPCC1, HNPCC2, HNPCC3, HNPCC4, HNPCC5, HNPCC6, HNPCC7
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| Deficient DNA mismatch repair: a common etiologic factor for colon cancer.
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| Peltomaki P.
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| Hum Mol Genet 10(7):735-40. Review. 2001
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| 21 | HNPCC1, MSH2
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| Recurrent germline mutation in MSH2 arises frequently de novo.
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| 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.
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| J Med Genet 37(9):646-52. 2000
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| 22 | HNPCC1, MLH1, MSH2
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| Family history characteristics, tumor microsatellite instability and germline MSH2 and MLH1 mutations in hereditary colorectal cancer.
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| Bapat BV, et al.
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| Hum Genet 104(2):167-76. 1999
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| 23 | HNPCC1, MSH2
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| A proven de novo germline mutation in HNPCC.
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| Kraus C, Kastl S, Gunther K, Klessinger S, Hohenberger W, Ballhausen WG.
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| J Med Genet 36(12):919-21 1999
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| 24 | HNPCC1, MLH1, MSH2
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| Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.
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| Farrington SM, et al.
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| Am J Hum Genet 63 : 749-759. 1998
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| 25 | MSH6, HNPCC1, MSH2, MTS
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| Refined chromosomal localization of the mismatch repair and hereditary nonpolyposis colorectal cancer genes hMSH2 and hMSH6.
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| Schmutte C, et al.
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| Cancer Res 58 : 5023-5026. 1998
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| 26 | HNPCC1, MLH1, MSH2
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| Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.
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| Viel A, et al.
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| Genes Chromosomes Cancer 18 : 8-18. 1997
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| 27 | HNPCC1, MLH1, MSH2
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| Mutations in MLH1 are more frequent than in MSH2 in sporadic colorectal cancers with microsatellite instability.
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| Herfarth KKF, et al.
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| Genes Chromosomes Cancer 18 : 42-49. 1997
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| 28 | HNPCC1, MSH2
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| Identification of a one-base germline deletion (codon 888 del C) and an intron splice acceptor site polymorphism in hMSH2.
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| Swensen J, Lewis CM, Cannon-Albright LA.
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| Hum Mutat 10(1):80-1. 1997
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| 29 | HNPCC1, HNPCC3, HNPCC4, MLH1, MHS2, PMS1, PMS2
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| Molecular basis of HNPCC: mutations of MMR genes.
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| Papadopoulos N, Lindblom A.
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| Hum Mutat 10(2):89-99. 1997
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| 30 | HNPCC1, HNPCC3, HNPCC4, MLH1, MSH2, PMS1, PMS2
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| Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.
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| Wijnen J, Khan PM, Vasen H, van der Klift H, Mulder A, van Leeuwen-Cornelisse I, Bakker B, Losekoot M, Moller P, Fodde R.
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| Am J Hum Genet 61(2):329-35. 1997
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| 31 | HNPCC1, MLH1, MSH2
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| Hereditary nonpolyposis colorectal cancer (HNPCC) : eight novel germline mutations in hMSH2 or hMLH1 gene.
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| Wehner M, Buschhausen L, Lamberti C, Kruse R, Caspari R, Propping P, Friedl W.
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| Hum Mutat 10(3):241-4. 1997
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| 32 | HNPCC1, MLH1, MSH2
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| Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer.
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| Peltomaki P, Vasen HF.
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| Gastroenterology 113(4):1146-58. 1997
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| 33 | MSH2, MLH1, PMS1, PMS2, HNPCC1, HNPCC2, HNPCC3, HNPCC4
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| Analysis of mismatch repair genes in hereditary non-polyposis colorectalcancer patients.
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| Liu B, et al.
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| Nat Med 2 : 169-174. 1996
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| 34 | HNPCC1, HNPCC2, MLH1, MHS2
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| DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer.
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| Nystršm-Lahti M, et al.
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| Hum Mol Genet 5 : 763-769. 1996
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| 35 | MSH2, HNPCC1
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| Mutation of the hMSH2 gene in two families with hereditary nonpolyposis colorectal cancer.
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| Jeon HM, et al.
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| Hum Mutat 7 : 327-333. 1996
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| 36 | HNPCC1, HNPCC2, MLH1, MSH2
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| Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer.
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| Moslein G, et al.
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| Hum Mol Genet 5 : 1245-1252. 1996
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| 37 | HNPCC1, HNPCC2, MLH1, MSH2
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| Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome.
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| Froggatt NJ, et al.
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| J Med Genet 33 : 726-730. 1996
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| 38 | HNPCC1, HNPCC2, MLH1, MSH2
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| Allele loss occurs frequently at hMLH1, but rarely at hMSH2, in sporadic colorectal cancers with microsatellite instability.
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| Tomlinson IPM, et al.
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| Br J Cancer 74 : 1514-1517. 1996
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| 39 | HNPCC1, HNPCC2, MLH1, MSH2
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| Founding mutations and alu-mediated recombination in hereditary colon cancer.
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| Nystršm-Lahti M, et al.
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| Nat Med 1 : 1203-1206. 1995
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| 40 | MSH2, HNPCC1
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| Somatic mutations in the hMSH2 gene in microsatellite unstable colorectal carcinomas.
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| Bšrresen AL, et al.
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| Hum Mol Genet 4 : 2065-2072. 1995
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| 41 | MSH2, HNPCC1, HNPCC2, MLH1
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| 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.
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| Miyaki M, et al.
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| J Mol Med 73 : 515-520. 1995
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| 42 | HNPCC1, HNPCC2
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| Genetic linkage analysis in hereditary non-polyposis colon cancer syndrome.
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| Froggatt NJ, et al.
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| J Med Genet 32 : 352-357. 1995
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| 43 | HNPCC1, MSH2
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| Mismatch repair and cancer.
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| Palombo F, et al.
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| Nature 367 : 417. 1994
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| 44 | HNPCC1, HNPCC2
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| Microsatellite instability in Muir-Torre syndrome.
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| Honchel R, et al.
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| Cancer Res 54 : 1159-1163. 1994
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| 45 | HNPCC1, HNPCC2
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| Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients.
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| Aaltonen LA, et al.
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| Cancer Res 54 : 1645-1648. 1994
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| 46 | HNPCC1
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| Hereditary nonpolyposis colon cancer : analysis of linkage to 2p15-16 places the COCAI locus telomeric to D2S123 and reveals genetic heterogeneity in seven Canadian families.
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| Green RC, et al.
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| Am J Hum Genet 54 : 1067-1077. 1994
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| 47 | MSH2, HNPCC1
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| hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds.
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| Liu B, et al.
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| Cancer Res 54 : 4590-4594. 1994
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| 48 | MSH2, MLH1, HNPCC1, HNPCC2
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| Mismatch repair genes on chromosomes 2p and 3p account for a major share of hereditary nonpolyposis colorectal cancer families evaluable by linkage.
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| Nystršm-Lahti M, et al.
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| Am J Hum Genet 55 : 659-665. 1994
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| 49 | HNPCC1, MSH2
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| Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development.
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| Mary JL, et al.
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| Hum Mol Genet 3 : 2067-2069. 1994
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| 50 | HNPCC1, MSH2
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| DGGE polymorphism in intron 10 of MSH2, the HNPCC gene.
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| Wijnen J, et al.
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| Hum Mol Genet 3 : 2268. 1994
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| 51 | HNPCC1, MSH2
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| Accumulation of multiple mutations in tumour suppressor genes during colorectal tumorigenesis in HNPCC patients.
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| Lazar V, et al.
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| Hum Mol Genet 3 : 2257-2260. 1994
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| 52 | HNPCC1, MSH2
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| Intron splice acceptor site sequence variation in the hereditary non-polyposis colorectal cancer gene hMSH2.
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| Hall NR, et al.
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| Eur J Cancer 30A : 1550-1552. 1994
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| 53 | HNPCC1, MSH2
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| The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer.
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| Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R.
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| Cell 77(1):167. No abstract available. 1994
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| 54 | HNPCC1, MSH2
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| Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer.
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| Leach FS, et al.
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| Cell 75 : 1215-1225. 1993
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| 55 | HNPCC1, MSH2
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| Hypermutability and mismatch repair deficiency in RER+ tumor cells.
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| Parsons R, et al.
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| Cell 75 : 1227-1236. 1993
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| 56 | HNPCC1
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| Genomic instability in colorectal cancer : relationship to clinicopatholigical variables and family history.
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| Lothe RA, et al.
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| Cancer Res 53 : 5849-5852. 1993
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| 57 | HNPCC1
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| Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome.
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| PeltomŠki P, et al.
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| Cancer Res 53 : 5853-5855. 1993
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| 58 | HNPCC1
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| Genomic instability occurs in colorectal carcinomas but not in adenomas.
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| Young J, et al.
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| Hum Mutat 2 : 351-354. 1993
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| 59 | HNPCC1
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| Clues to the pathogenesis of familial colorectal cancer.
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| Aaltonen LA, et al.
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| Science 260 : 812-816. 1993
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| 60 | HNPCC1, MSH2
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| Genetic mapping of a locus predisposing to human colorectal cancer.
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| Peltomaki P, Aaltonen LA, Sistonen P, Pylkkanen L, Mecklin JP, Jarvinen H, Green JS, Jass JR, Weber JL, Leach FS, et al.
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| Science 260(5109):810-2. 1993
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| 61 | HNPCC1, HNPCC2, MLH1, MSH2
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| Mutator phenotype may be required for multistage carcinogenesis.
|
| Loeb LA.
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| Cancer Res 51 : 3075-3079. 1991
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| 62 | HNPCC1
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| Frequency of hereditary nonpolyposis colorectal carcinoma (Lynch syndromes I and II).
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| Lynch HT.
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| Gastroenterology 90 : 486-492. 1986
|