Citations for
1HNPCC1, 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
2HNPCC2, 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
3HNPCC2, 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
4MLH1, 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
5MLH1, 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
6MSH2, 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
7HNPCC1, 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
8HNPCC2, 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
9HNPCC1, 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
10MSH2, 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
11MSH2, MLH1, MSH6, PMS2, MLH3, PMS1, HNPCC1, HNPCC2, HNPCC5, HNPCC4, HNPCC3, HNPCC6
Lynch syndrome genes.
Peltomaki P.
Fam Cancer 4(3):227-32. Review. 2005
12MLH1, 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
13MLH1, 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
14HNPCC1, 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
15HNPCC1, 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
16HNPCC1, 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
17MLH1, 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
18HNPCC1, 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
19MSH6, 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
20MLH1, 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
21MSH2, 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
22HNPCC1, 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
23HNPCC1, 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
24HNPCC1, 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
25HNPCC1, 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
26HNPCC2, 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
27HNPCC2, 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
28HNPCC1, HNPCC2, MLH1, MSH2
Founding mutations and alu-mediated recombination in hereditary colon cancer.
Nystršm-Lahti M, et al.
Nat Med 1 : 1203-1206. 1995
29MSH2, 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
30HNPCC2, 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
31HNPCC1, HNPCC2
Genetic linkage analysis in hereditary non-polyposis colon cancer syndrome.
Froggatt NJ, et al.
J Med Genet 32 : 352-357. 1995
32MLH1, HNPCC2
Mutation of a mutL homolog in hereditary colon cancer.
Papadopoulos N, et al.
Science 263 : 1625-1629. 1994
33MLH1, 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
34HNPCC1, HNPCC2
Microsatellite instability in Muir-Torre syndrome.
Honchel R, et al.
Cancer Res 54 : 1159-1163. 1994
35HNPCC1, HNPCC2
Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients.
Aaltonen LA, et al.
Cancer Res 54 : 1645-1648. 1994
36HNPCC2
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
37HNPCC2
Sublocalization of a locus at 3p21.3-23 predisposing to hereditary nonpolyposis colon cancer.
Tannergard P, et al.
Hum Genet 94 : 210-214. 1994
38MSH2, 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
39MLH1, 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
40HNPCC2
Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer.
Lindblom A, et al.
Nat Genet 5 : 279-283. 1993
41HNPCC1, HNPCC2, MLH1, MSH2
Mutator phenotype may be required for multistage carcinogenesis.
Loeb LA.
Cancer Res 51 : 3075-3079. 1991
42HNPCC2
Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II) : II. Biomarker studies.
Lynch HT, et al.
Cancer 56 : 939-951. 1985