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For: Nyström-Lahti M, Wu Y, Moisio AL, Hofstra RM, Osinga J, Mecklin JP, Järvinen HJ, Leisti J, Buys CH, de la Chapelle A, Peltomäki P. DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum Mol Genet 1996;5:763-9. [PMID: 8776590 DOI: 10.1093/hmg/5.6.763] [Citation(s) in RCA: 150] [Impact Index Per Article: 5.2] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/02/2023]  Open
Number Cited by Other Article(s)
1
Wen T, Ehivet F, Stanislaw C, Mao R, Hegde M. Hereditary Colorectal Cancer Diagnosis by Next-Generation Sequencing. Curr Protoc 2023;3:e941. [PMID: 38112503 DOI: 10.1002/cpz1.941] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/21/2023]
2
Biswas K, Mohammed A, Sharan SK, Shoemaker RH. Genetically engineered mouse models for hereditary cancer syndromes. Cancer Sci 2023;114:1800-1815. [PMID: 36715493 PMCID: PMC10154891 DOI: 10.1111/cas.15737] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/14/2022] [Revised: 01/21/2023] [Accepted: 01/25/2023] [Indexed: 01/31/2023]  Open
3
Boumehdi AL, Cherbal F, Khider F, Oukkal M, Mahfouf H, Zebboudj F, Maaoui M. Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study. Ann Hum Genet 2022;86:328-352. [PMID: 36073783 DOI: 10.1111/ahg.12482] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/16/2021] [Revised: 05/31/2022] [Accepted: 07/25/2022] [Indexed: 11/29/2022]
4
Klančar G, Blatnik A, Šetrajčič Dragoš V, Vogrič V, Stegel V, Blatnik O, Drev P, Gazič B, Krajc M, Novaković S. A Novel Germline MLH1 In-Frame Deletion in a Slovenian Lynch Syndrome Family Associated with Uncommon Isolated PMS2 Loss in Tumor Tissue. Genes (Basel) 2020;11:genes11030325. [PMID: 32197529 PMCID: PMC7140785 DOI: 10.3390/genes11030325] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/19/2020] [Revised: 03/13/2020] [Accepted: 03/16/2020] [Indexed: 02/06/2023]  Open
5
Rashid MU, Naeemi H, Muhammad N, Loya A, Lubiński J, Jakubowska A, Yusuf MA. Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients. Hered Cancer Clin Pract 2019;17:29. [PMID: 31660093 PMCID: PMC6806584 DOI: 10.1186/s13053-019-0128-2] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/14/2018] [Accepted: 09/25/2019] [Indexed: 01/05/2023]  Open
6
Update on Lynch syndrome genomics. Fam Cancer 2017;15:385-93. [PMID: 26873718 PMCID: PMC4901089 DOI: 10.1007/s10689-016-9882-8] [Citation(s) in RCA: 119] [Impact Index Per Article: 14.9] [Reference Citation Analysis] [Abstract] [Key Words] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/13/2023]
7
Wu B, Ji W, Liang S, Ling C, You Y, Xu L, Zhong ME, Xiao Y, Qiu HZ, Lu JY, Banerjee S. A novel heterozygous germline deletion in MSH2 gene in a five generation Chinese family with Lynch syndrome. Oncotarget 2017;8:55194-55203. [PMID: 28903413 PMCID: PMC5589652 DOI: 10.18632/oncotarget.19234] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/22/2016] [Accepted: 06/27/2017] [Indexed: 11/25/2022]  Open
8
The analysis of a large Danish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 11q24. Fam Cancer 2016;14:393-400. [PMID: 25724759 DOI: 10.1007/s10689-015-9791-2] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/19/2023]
9
Vodicka P, Caja F, Vymetalkova V, Prochazka P, Vodickova L, Schwarzova L, Slyskova J, Kumar R, Schneiderova M. A novel c. 204 Ile68Met germline variant in exon 2 of the mutL homolog 1 gene in a colorectal cancer patient. Oncol Lett 2014;9:183-186. [PMID: 25435955 PMCID: PMC4247117 DOI: 10.3892/ol.2014.2666] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/14/2014] [Accepted: 09/26/2014] [Indexed: 01/15/2023]  Open
10
Andersson U, Wibom C, Cederquist K, Aradottir S, Borg A, Armstrong GN, Shete S, Lau CC, Bainbridge MN, Claus EB, Barnholtz-Sloan J, Lai R, Il'yasova D, Houlston RS, Schildkraut J, Bernstein JL, Olson SH, Jenkins RB, Lachance DH, Wrensch M, Davis FG, Merrell R, Johansen C, Sadetzki S, Bondy ML, Melin BS. Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer. Neuro Oncol 2014;16:1333-40. [PMID: 24723567 PMCID: PMC4165415 DOI: 10.1093/neuonc/nou052] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/14/2013] [Accepted: 03/10/2014] [Indexed: 12/18/2022]  Open
11
Peltomäki P. Epigenetic mechanisms in the pathogenesis of Lynch syndrome. Clin Genet 2014;85:403-12. [PMID: 24443998 DOI: 10.1111/cge.12349] [Citation(s) in RCA: 36] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/11/2013] [Revised: 01/16/2014] [Accepted: 01/16/2014] [Indexed: 01/03/2023]
12
Pérez-Cabornero L, Infante M, Velasco E, Lastra E, Miner C, Durán M. Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome. Int J Colorectal Dis 2013;28:1195-201. [PMID: 23588873 DOI: 10.1007/s00384-013-1685-x] [Citation(s) in RCA: 17] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 03/18/2013] [Indexed: 02/04/2023]
13
Serrano M, Lage P, Belga S, Filipe B, Francisco I, Rodrigues P, Fonseca R, Chaves P, Claro I, Albuquerque C, Pereira AD. Bethesda criteria for microsatellite instability testing: impact on the detection of new cases of Lynch syndrome. Fam Cancer 2013;11:571-8. [PMID: 22776989 DOI: 10.1007/s10689-012-9550-6] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/20/2022]
14
Li D, Hu F, Wang F, Cui B, Dong X, Zhang W, Lin C, Li X, Wang D, Zhao Y. Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer. PLoS One 2013;8:e51240. [PMID: 23526924 PMCID: PMC3602519 DOI: 10.1371/journal.pone.0051240] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/27/2011] [Accepted: 11/05/2012] [Indexed: 02/07/2023]  Open
15
Inherited colorectal cancer syndromes. Cancer J 2012;17:405-15. [PMID: 22157284 DOI: 10.1097/ppo.0b013e318237e408] [Citation(s) in RCA: 88] [Impact Index Per Article: 6.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/16/2022]
16
Valentin MD, da Silva FC, dos Santos EMM, Lisboa BG, de Oliveira LP, Ferreira FDO, Gomy I, Nakagawa WT, Aguiar Junior S, Redal M, Vaccaro C, Valle AD, Sarroca C, Carraro DM, Rossi BM. Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals. Fam Cancer 2012;10:641-7. [PMID: 21681552 DOI: 10.1007/s10689-011-9461-y] [Citation(s) in RCA: 21] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/11/2022]
17
Alterations of copy number of methylation pattern in mismatch repair genes by methylation specific-multiplex ligation-dependent probe amplification in cases of colon cancer. Balkan J Med Genet 2011;14:25-34. [PMID: 24052709 PMCID: PMC3776700 DOI: 10.2478/v10034-011-0044-x] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/21/2022]  Open
18
Abdel-Rahman WM. Genomic instability and carcinogenesis: an update. Curr Genomics 2011;9:535-41. [PMID: 19516960 PMCID: PMC2694557 DOI: 10.2174/138920208786847926] [Citation(s) in RCA: 29] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/01/2008] [Revised: 08/12/2008] [Accepted: 08/14/2008] [Indexed: 12/15/2022]  Open
19
Dandapani M, Stoffel EM. CLINICAL MANAGEMENT OF FAMILIES WITH HEREDITARY COLORECTAL CANCER SYNDROMES. SEMINARS IN COLON AND RECTAL SURGERY 2011;22:100-104. [PMID: 21743786 PMCID: PMC3129991 DOI: 10.1053/j.scrs.2010.12.008] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
20
Moussa SAB, Moussa A, Kourda N, Mezlini A, Abdelli N, Zerimech F, Najjar T, Jilani SB, Porchet N, Ayed FB, Manai M, Buisine MP. Lynch syndrome in Tunisia: first description of clinical features and germline mutations. Int J Colorectal Dis 2011;26:455-67. [PMID: 21311894 DOI: 10.1007/s00384-010-1129-9] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 12/29/2010] [Indexed: 02/04/2023]
21
Frequency of extracolonic tumors in Brazilian families with Lynch syndrome: analysis of a hereditary colorectal cancer institutional registry. Fam Cancer 2011;9:563-70. [PMID: 20697958 DOI: 10.1007/s10689-010-9373-2] [Citation(s) in RCA: 25] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/19/2022]
22
Genetic counseling considerations in the evaluation of families for Lynch syndrome--a review. J Genet Couns 2010;20:5-19. [PMID: 20931355 DOI: 10.1007/s10897-010-9325-x] [Citation(s) in RCA: 45] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/04/2010] [Accepted: 08/25/2010] [Indexed: 12/20/2022]
23
Lee-Kong SA, Markowitz AJ, Glogowski E, Papadopoulos C, Stadler Z, Weiser MR, Temple LK, Guillem JG. Prospective Immunohistochemical Analysis of Primary Colorectal Cancers for Loss of Mismatch Repair Protein Expression. Clin Colorectal Cancer 2010;9:255-9. [DOI: 10.3816/ccc.2010.n.038] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/25/2023]
24
Wang DQ, Zhou JN, Song L, Li SP, Ding JH, Li JT, Ma GJ, Chen SQ, Zhang XM. Genotype frequencies of the Val384Asp missense mutation in the hMLH1 gene in patients with familial gastric cancer. Shijie Huaren Xiaohua Zazhi 2010;18:1669-1675. [DOI: 10.11569/wcjd.v18.i16.1669] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/06/2023]  Open
25
Cheng H, Sun N, Sun X, Chen B, Li F, Feng J, Cheng L, Cao Y. Polymorphisms in hMSH2 and hMLH1 and response to platinum-based chemotherapy in advanced non-small-cell lung cancer patients. Acta Biochim Biophys Sin (Shanghai) 2010;42:311-7. [PMID: 20458443 DOI: 10.1093/abbs/gmq023] [Citation(s) in RCA: 12] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/13/2022]  Open
26
A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations. Fam Cancer 2010;8:533-9. [PMID: 19760518 DOI: 10.1007/s10689-009-9283-3] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/20/2022]
27
Barrow E, Robinson L, Alduaij W, Shenton A, Clancy T, Lalloo F, Hill J, Evans DG. Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. Clin Genet 2009;75:141-9. [PMID: 19215248 DOI: 10.1111/j.1399-0004.2008.01125.x] [Citation(s) in RCA: 212] [Impact Index Per Article: 13.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/28/2022]
28
Gylling A, Ridanpää M, Vierimaa O, Aittomäki K, Avela K, Kääriäinen H, Laivuori H, Pöyhönen M, Sallinen SL, Wallgren-Pettersson C, Järvinen HJ, Mecklin JP, Peltomäki P. Large genomic rearrangements and germline epimutations in Lynch syndrome. Int J Cancer 2009;124:2333-40. [PMID: 19173287 DOI: 10.1002/ijc.24230] [Citation(s) in RCA: 65] [Impact Index Per Article: 4.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/05/2023]
29
Sheng JQ, Zhang H, Ji M, Fu L, Mu H, Zhang MZ, Huang JS, Han M, Li AQ, Wei Z, Sun ZQ, Wu ZT, Xia CH, Li SR. Genetic diagnosis strategy of hereditary non-polyposis colorectal cancer. World J Gastroenterol 2009;15:983-9. [PMID: 19248199 PMCID: PMC2653409 DOI: 10.3748/wjg.15.983] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/06/2023]  Open
30
Lynch HT, Casey MJ, Snyder CL, Bewtra C, Lynch JF, Butts M, Godwin AK. Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management. Mol Oncol 2009;3:97-137. [PMID: 19383374 DOI: 10.1016/j.molonc.2009.02.004] [Citation(s) in RCA: 137] [Impact Index Per Article: 8.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/02/2009] [Revised: 02/03/2009] [Accepted: 02/06/2009] [Indexed: 12/18/2022]  Open
31
Martellucci J, Civitelli S, Dhamo A, Tanzini G. Familial colorectal cancer: a concept revisited. Colorectal Dis 2009;11:133-7. [PMID: 18462235 DOI: 10.1111/j.1463-1318.2008.01561.x] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/08/2023]
32
High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriers. Fam Cancer 2008;8:145-51. [DOI: 10.1007/s10689-008-9219-3] [Citation(s) in RCA: 11] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/23/2007] [Accepted: 09/16/2008] [Indexed: 11/26/2022]
33
Hirai Y, Banno K, Suzuki M, Ichikawa Y, Udagawa Y, Sugano K, Miki Y. Molecular epidemiological and mutational analysis of DNA mismatch repair (MMR) genes in endometrial cancer patients with HNPCC-associated familial predisposition to cancer. Cancer Sci 2008;99:1715-9. [PMID: 18624996 PMCID: PMC11159862 DOI: 10.1111/j.1349-7006.2008.00886.x] [Citation(s) in RCA: 18] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 06/09/2024]  Open
34
Gylling AHS, Nieminen TT, Abdel-Rahman WM, Nuorva K, Juhola M, Joensuu EI, Järvinen HJ, Mecklin JP, Aarnio M, Peltomäki PT. Differential cancer predisposition in Lynch syndrome: insights from molecular analysis of brain and urinary tract tumors. Carcinogenesis 2008;29:1351-9. [PMID: 18550572 DOI: 10.1093/carcin/bgn133] [Citation(s) in RCA: 72] [Impact Index Per Article: 4.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/11/2022]  Open
35
Christensen LL, Madsen BE, Wikman FP, Wiuf C, Koed K, Tjønneland A, Olsen A, Syvänen AC, Andersen CL, Ørntoft TF. The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population. BMC MEDICAL GENETICS 2008;9:52. [PMID: 18547406 PMCID: PMC2438340 DOI: 10.1186/1471-2350-9-52] [Citation(s) in RCA: 14] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 10/16/2007] [Accepted: 06/11/2008] [Indexed: 12/27/2022]
36
Colorectal adenomas in young patients: microsatellite instability is not a useful marker to detect new cases of Lynch syndrome. Dis Colon Rectum 2008;51:909-15. [PMID: 18306971 DOI: 10.1007/s10350-008-9224-5] [Citation(s) in RCA: 15] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/30/2007] [Revised: 09/02/2007] [Accepted: 10/17/2007] [Indexed: 02/08/2023]
37
Ollila S, Bebek DD, Greenblatt M, Nyström M. Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification. Int J Cancer 2008;123:720-4. [DOI: 10.1002/ijc.23573] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/09/2022]
38
Kastrinos F, Syngal S. Recently identified colon cancer predispositions: MYH and MSH6 mutations. Semin Oncol 2007;34:418-24. [PMID: 17920897 DOI: 10.1053/j.seminoncol.2007.07.005] [Citation(s) in RCA: 22] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/04/2023]
39
Tracking mutations in a family: Recognizing indicators of germline mutation in Lynch syndrome. CURRENT COLORECTAL CANCER REPORTS 2007. [DOI: 10.1007/s11888-007-0031-5] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/22/2022]
40
Ollikainen M, Hannelius U, Lindgren CM, Abdel-Rahman WM, Kere J, Peltomäki P. Mechanisms of inactivation of MLH1 in hereditary nonpolyposis colorectal carcinoma: a novel approach. Oncogene 2007;26:4541-9. [PMID: 17260015 DOI: 10.1038/sj.onc.1210236] [Citation(s) in RCA: 46] [Impact Index Per Article: 2.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/09/2022]
41
Fan Y, Liu X, Zhang H, Dai J, Zhang X, Zhu M, Gao X, Wang Y. Variations in exon 7 of the MSH2 gene and susceptibility to gastrointestinal cancer in a Chinese population. ACTA ACUST UNITED AC 2006;170:121-8. [PMID: 17011982 DOI: 10.1016/j.cancergencyto.2006.05.010] [Citation(s) in RCA: 16] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/06/2005] [Revised: 05/09/2006] [Accepted: 05/10/2006] [Indexed: 12/27/2022]
42
Mei Q, Yan HL, Ding FX, Xue G, Huang JJ, Wang YZ, Sun SH. Single-nucleotide polymorphisms of mismatch repair genes in healthy Chinese individuals and sporadic colorectal cancer patients. ACTA ACUST UNITED AC 2006;171:17-23. [PMID: 17074586 DOI: 10.1016/j.cancergencyto.2006.06.011] [Citation(s) in RCA: 13] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/23/2006] [Revised: 05/25/2006] [Accepted: 06/08/2006] [Indexed: 01/02/2023]
43
Kurzawski G. Some aspects of molecular diagnostics in Lynch syndrome. Hered Cancer Clin Pract 2006;4:197-205. [PMID: 20223024 PMCID: PMC2837309 DOI: 10.1186/1897-4287-4-4-197] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/13/2006] [Accepted: 12/05/2006] [Indexed: 11/29/2022]  Open
44
Kurzawski G, Suchy J, Lener M, Kłujszo-Grabowska E, Kładny J, Safranow K, Jakubowska K, Jakubowska A, Huzarski T, Byrski T, Debniak T, Cybulski C, Gronwald J, Oszurek O, Oszutowska D, Kowalska E, Góźdź S, Niepsuj S, Słomski R, Pławski A, Łacka-Wojciechowska A, Rozmiarek A, Fiszer-Maliszewska Ł, Bebenek M, Sorokin D, Sasiadek MM, Stembalska A, Grzebieniak Z, Kilar E, Stawicka M, Godlewski D, Richter P, Brozek I, Wysocka B, Limon J, Jawień A, Banaszkiewicz Z, Janiszewska H, Kowalczyk J, Czudowska D, Scott RJ, Lubiński J. Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). Clin Genet 2006;69:40-7. [PMID: 16451135 DOI: 10.1111/j.1399-0004.2006.00550.x] [Citation(s) in RCA: 29] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/28/2023]
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Giraldo A, Gómez A, Salguero G, García H, Aristizábal F, Gutiérrez O, Angel LA, Padrón J, Martínez C, Martínez H, Malaver O, Flórez L, Barvo R. MLH1 and MSH2 mutations in Colombian families with hereditary nonpolyposis colorectal cancer (Lynch syndrome)--description of four novel mutations. Fam Cancer 2006;4:285-90. [PMID: 16341804 DOI: 10.1007/s10689-005-4523-7] [Citation(s) in RCA: 16] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/22/2004] [Accepted: 03/08/2005] [Indexed: 10/25/2022]
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Tanyi M, Olasz J, Lukács G, Csuka O, Tóth L, Szentirmay Z, Ress Z, Barta Z, Tanyi JL, Damjanovich L. Pedigree and genetic analysis of a novel mutation carrier patient suffering from hereditary nonpolyposis colorectal cancer. World J Gastroenterol 2006;12:1192-7. [PMID: 16534870 PMCID: PMC4124428 DOI: 10.3748/wjg.v12.i8.1192] [Citation(s) in RCA: 13] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/06/2023]  Open
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Woods MO, Hyde AJ, Curtis FK, Stuckless S, Green JS, Pollett AF, Robb JD, Green RC, Croitoru ME, Careen A, Chaulk JAW, Jegathesan J, McLaughlin JR, Gallinger SS, Younghusband HB, Bapat BV, Parfrey PS. High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genes. Clin Cancer Res 2006;11:6853-61. [PMID: 16203774 DOI: 10.1158/1078-0432.ccr-05-0726] [Citation(s) in RCA: 43] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/16/2022]
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Gruber SB. New developments in Lynch syndrome (hereditary nonpolyposis colorectal cancer) and mismatch repair gene testing. Gastroenterology 2006;130:577-87. [PMID: 16472609 DOI: 10.1053/j.gastro.2006.01.031] [Citation(s) in RCA: 49] [Impact Index Per Article: 2.6] [Reference Citation Analysis] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/20/2023]
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Abdel-Rahman WM, Mecklin JP, Peltomäki P. The genetics of HNPCC: application to diagnosis and screening. Crit Rev Oncol Hematol 2006;58:208-20. [PMID: 16434208 DOI: 10.1016/j.critrevonc.2005.11.001] [Citation(s) in RCA: 77] [Impact Index Per Article: 4.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/30/2005] [Revised: 10/30/2005] [Accepted: 11/09/2005] [Indexed: 01/26/2023]  Open
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Stormorken AT, Hoff G, Norstein J, Bowitz-Lothe IM, Hanslien E, Grindedal E, Møller P. Estimated prevalence of hereditary cancers and the need for surveillance in a Norwegian county, Telemark. Scand J Gastroenterol 2006;41:71-9. [PMID: 16373279 DOI: 10.1080/00365520510023891] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/04/2023]
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