Association of low-risk MSH3 and MSH2 variant alleles with Lynch syndrome: Probability of synergistic effects

International Journal of Cancer

Volumn 129, Issue 7, 2011, Pages 1643-1650

  Duraturo, Francesca ^a   Liccardo, Raffaella ^a   Cavallo, Angela ^a   De Rosa, Marina ^a   Grosso, Michela ^a   Izzo, Paola ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

colorectal cancer; low risk alleles; Lynch syndrome; MSH3 gene

Indexed keywords

GENOMIC DNA;

ADULT; AGED; ALLELE; ARTICLE; CANCER GROWTH; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; EXON; FEMALE; GENE; GENE AMPLIFICATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC SCREENING; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MLH1 GENE; MSH2 GENE; MSH3 GENE; MSH6 GENE; MUTANT; ONSET AGE; PRIORITY JOURNAL; PROBABILITY;

EID: 79960927829     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.25824     Document Type: Article

References (28)

1. Carlomagno N, Duraturo F, Rizzo G, Cremone C, Izzo P, Renda A,. Carcinogenesis. In:, Renda A, ed. Multiple primary malignnancies. Springer-Verlag Italia, Inc., 2009. 51-61.
2. Lynch HT, De La Chapelle A,. Genetic susceptibility to non polyposis colorectal cancer. J Med Genet 1999; 36: 801-18. Review. (Pubitemid 29520569)
3. Lynch PM,. The hMSH2 and hMLH1 genes in hereditary nonpolyposis colorectal cancer. Surg Oncol Clin N Am 2009; 18: 611-24.
4. Hendriks YM, Wagner A, Morreau H, Menko F, Stormorken A, Quehenberger F, Sandkuijl L, Moller P, Genuardi M, Van Houwelingen H, Tops C, Van Puijenbroek M, et al. Cancer risk in hereditary non polyposis colorectal cancer due to MSH6 mutations: impact on counselling and surveillance. Gastroenterology 2005; 129: 415-21.
5. Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD, Lindblom A, Lagerstedt K, Thibodeau SN, Lindor NM, Young J, Winship I, et al. The clinical phenotype of Lynch yndrome due to germ-line PMS2 mutations. Gastroenterology 2008; 135: 419-28.
6. Wu Y, Berends MJ, Sijmons RH, Mensink RG, Verlind E, Kooi KA, van der Sluis T, Kempinga C, van dDer Zee AG, Hollema H, Buys CH, Kleibeuker JH, Hofstra RM,. A role for MLH3 in hereditary nonpolyposis colorectal cancer. Nat Genet 2001; 29: 137-8. (Pubitemid 32952647)
7. Watanabe A, Ikejima M, Suzuki N, Shimada T,. Genomic organization and expression of the human MSH3 gene. Genomics 1996; 31: 311-18. (Pubitemid 26059029)
8. Genschel J, Littman SJ, Drummond JT, Modrich P,. Isolation of MutSbeta from human cells and comparison of the mismatch repair specificities of MutSbeta and MutSalpha. J Biol Chem 1998; 273: 19895-901. (Pubitemid 28367056)
9. Acharya S, Wilson T, Gradia S, Kane MF, Guerrette S, Marsischky GT, Kolodner R, Fishel R,. hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6. Proc Natl Acad Sci USA 1996; 93: 13629-34. (Pubitemid 26424170)
10. Harrington JM, Kolodner RD,. Saccharomyces cerevisiae Msh2-Msh3 acts in repair of base-base mispairs. Mol Cell Biol 2007; 27: 6546-54. (Pubitemid 47435758)
11. Edelmann W, Umar A, Yang K, Heyer J, Kucherlapati M, Lia M, Kneitz B, Avdievich E, Fan K, Wong E, Crouse G, Kunkel T, et al. The DNA mismatch repair genes Msh3 and Msh6 cooperate in intestinal tumor suppression. Cancer Res 2000; 60: 803-7. (Pubitemid 30129505)
12. Haugen AC, Goel A, Yamada K, Marra G, Nguyen TP, Nagasaka T, Kanazawa S, Koike J, Kikuchi Y, Zhong X, Arita M, Shibuya K, et al. Genetic instability caused by loss of MutS homologue 3 in human colorectal cancer. Cancer Res 2008; 68: 8465-72.
13. Plaschke J, Krüger S, Jeske B, Theissig F, Kreuz FR, Pistorius S, Saeger HD, Iaccarino I, Marra G, Schackert HK,. Loss of MSH3 protein expression is frequent in MLH1-deficient colorectal cancer and is associated with disease progression. Cancer Res 2004; 64: 864-70. (Pubitemid 38176885)
14. Kawakami T, Shiina H, Igawa M, Deguchi M, Nakajima K, Ogishima T, Tokizane T, Urakami S, Enokida H, Miura K, Ishii N, Kane CJ, et al. Inactivation of the hMSH3 mismatch repair gene in bladder cancer. Biochem Biophys Res Commun 2004; 325: 934-42. (Pubitemid 39487962)
15. Berndt SI, Platz EA, Fallin MD, Thuita LW, Hoffman SC, Helzlsouer KJ,. Mismatch repair polymorphisms and the risk of colorectal cancer. Int J Cancer 2007; 120: 1548-54. (Pubitemid 46355392)
16. Schlegel J, Bocker T, Zirngibl H, Hofstädter F, Rüschoff J,. Detection of microsatellite instability in human colorectal carcinoma using a non radioactive PCR-based screening technique. Virchows Arch 1995; 426: 223-7.
17. Ramensky V, Bork P, Sunyaev S,. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002; 30: 3894-900. (Pubitemid 35012462)
18. Desmet FO, Hamroun D, Lalande M, Collod-Béroud G, Claustres M, Béroud C,. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acid Res 2009; 37: e67.
19. Wolf B, Gruber S, Henglmueller S, Kappel S, Bergmann M, Wrba F, Karner-Hanusch J,. Efficiency of the revised Bethesda guidelines (2003) for the detection of mutations in mismatch repair genes in Austrian HNPCC patients. Int J Cancer 2006; 118: 1465-70.
20. Hegan DC, Narayanan L, Jirik FR, Edelmann W, Liskay RM, Glazer PM,. Differing patterns of genetic instability in mice deficient in the mismatch repair genes Pms2, Mlh1, Msh2, Msh3 and Msh6. Carcinogenesis 2006; 27: 2402-8. (Pubitemid 44884097)
21. Doss CG, Sethumadhavan R,. Investigation on the role of nsSNPs in HNPCC genes-a bioinformatics approach. Biomed Sci 2009; 24: 16-42.
22. Tunca B, Pedroni M, Cecener G, Egeli U, Borsi E, Zorluoglu A, Gregorio CD, Yilmazlar T, Yerci O, de Leon MP,. Analysis of mismatch repair gene mutations in Turkish HNPCC patients. Fam Cancer
23. Curia MC, Palmirotta R, Aceto G, Messerini L, Verì MC, Crognale S, Valanzano R, Ficari F, Fracasso P, Stigliano V, Tonelli F, Casale V, et al. Unbalanced germ-line expression of hMLH1 and hMSH2 alleles in hereditary nonpolyposis colorectal cancer. Cancer Res 1999; 59: 3570-5. (Pubitemid 29381854)
24. Scott RJ, McPhillips M, Meldrum CJ, Fitzgerald PE, Adams K, Spigelman AD, du Sart D, Tucker K, Kirk J,. Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds. Am J Hum Genet 2001; 68: 118-27. (Pubitemid 32048366)
25. Martinez SL, Kolodner RD,. Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions. Proc Natl Acad Sci USA 2010; 107: 5070.
26. Harrington JM, Kolodner RD,. Saccharomyces cerevisiae Msh2-Msh3 acts in repair of base-base mispairs. Mol Cell Biol 2007; 27: 6546-54. (Pubitemid 47435758)
27. Dragileva E, Hendricks A, Teed A, Gillis T, Lopez ET, Friedberg EC, Kucherlapati R, Edelmann W, Lunetta KL, MacDonald ME, Wheeler VC,. Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes. Neurobiol Dis 2009; 33: 37-47.
28. Tomé S, Holt I, Edelmann W, Morris GE, Munnich A, Pearson CE, Gourdon G,. MSH2 ATPase domain mutation affects CTG CAG repeat instability in transgenic mice. PLoS Genet 2009; 5: e1000482.