Somatic mutations in mismatch repair genes in sporadic gastric carcinomas are not a cause but a consequence of the mutator phenotype

Cancer Genetics and Cytogenetics

Volumn 180, Issue 2, 2008, Pages 110-114

  Pinto, Mafalda ^a,b   Wu, Ying ^b   Mensink, Rob G J ^b   Cirnes, Luís ^a   Seruca, Raquel ^a,c   Hofstra, Robert M W ^b  

^a UNIVERSITY OF PORTO   (Portugal)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c University of Porto   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA METHYLATION; FRAMESHIFT MUTATION; GENE; HUMAN; MBD4 GENE; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MISSENSE MUTATION; MLH1 GENE; MLH3 GENE; MSH2 GENE; MSH6 GNEE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; SOMATIC MUTATION; STOMACH CARCINOMA;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; BASE SEQUENCE; CARCINOMA; CARRIER PROTEINS; DNA METHYLATION; DNA MISMATCH REPAIR; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; ENDODEOXYRIBONUCLEASES; GENETIC SCREENING; HUMANS; MICROSATELLITE INSTABILITY; MUTATION; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; PHENOTYPE; PROMOTER REGIONS (GENETICS); STOMACH NEOPLASMS;

EID: 38149120762     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cancergencyto.2007.09.022     Document Type: Article

References (26)

1. Liu B., Nicolaides N.C., Markowitz S., Willson J.K., Parsons R.E., Jen J., Papadopoulos N., Peltomaki P., de la Chapelle A., Hamilton S.R., Kinzler K.W., and Vogelstein B. Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat Genet 9 (1995) 48-55
2. Hoang J.M., Cottu P.H., Thuille B., Salmon R.J., Thomas G., and Hamelin R. BAT-26, an indicator of the replication error phenotype in colorectal cancer cell lines. Cancer Res 57 (1997) 300-303
3. Peltomaki P. Deficient DNA mismatch repair: a common etiologic factor for colon cancer. Hum Mol Genet 10 (2001) 735-740
4. Peltomaki P., Lothe R.A., Aaltonen L.A., Pylkkanen L., Nystrom-Lahti M., Seruca R., David L., Holm R., Ryberg D., Haugen A., Brogger A., Borrensen A.L., and de la Chapelle A. Microsatellite instability is associated with tumours that characterize the hereditary non-polyposis colorectal carcinoma syndrome. Cancer Res 53 (1993) 5853-5855
5. Seruca R., Santos N.R., David L., Constancia M., Seixas M., and Sobrinho-Simões M. Sporadic gastric carcinomas with microsatellite instability display a particular clinicopathologic profile. Int J Cancer 64 (1995) 32-36
6. dos Santos N.R., Seruca R., Constancia M., Seixas M., and Sobrinho-Simões M. Microsatellite instability at multiple loci in gastric carcinoma: clinicopathologic implications and prognosis. Gastroenterology 110 (1996) 38-44
7. Chung Y.J., Park S.W., Song J.M., Lee K.Y., Seo E.J., Choi S.W., and Rhyu M.G. Evidence of genetic progression in human gastric carcinomas with microsatellite instability. Oncogene 15 (1997) 1719-1726
8. Hayden J.D., Cawkwell L., Quirke P., Dixon M.F., Goldstone A.R., Sue-Ling H., Johnston D., and Martin I.G. Prognostic significance of microsatellite instability in patients with gastric carcinoma. Eur J Cancer 33 (1997) 2342-2346
9. Oliveira C., Seruca R., Seixas M., and Sobrinho-Simoes M. The clinicopathological features of gastric carcinomas with microsatellite instability may be mediated by mutations of different "target genes": a study of the TGFbeta RII, IGFII R, and BAX genes. Am J Pathol 153 (1998) 1211-1219
10. Fleisher A.S., Esteller M., Wang S., Tamura G., Suzuki H., Yin J., Zou T.T., Abraham J.M., Kong D., Smolinski K.N., Shi Y.Q., Rhyu M.G., Powell S.M., James S.P., Wilson K.T., Herman J.G., and Meltzer S.J. Hypermethylation of the hMLH1 gene promoter in human gastric cancers with microsatellite instability. Cancer Res 59 (1999) 1090-1095
11. Halling K.C., Harper J., Moskaluk C.A., Thibodeau S.N., Petroni G.R., Yustein A.S., Tosi P., Minacci C., Roviello F., Piva P., Hamilton S.R., Jackson C.E., and Powell S.M. Origin of microsatellite instability in gastric cancer. Am J Pathol 155 (1999) 205-211
12. Kang G.H., Shim Y.H., and Ro J.Y. Correlation of methylation of the hMLH1 promoter with lack of expression of hMLH1 in sporadic gastric carcinomas with replication error. Lab Invest 79 (1999) 903-909
13. Leung S.Y., Yuen S.T., Chung L.P., Chu A.S., Chan A.S., and Ho J.C. hMLH1 promoter hypermethylation and lack of hMLH1 expression in sporadic gastric carcinomas with high-frequency microsatellite instability. Cancer Res 59 (1999) 159-164
14. Yamamoto H., Perez-Piteira J., Yoshida T., Terada M., Itoh F., Imai K., and Perucho M. Gastric cancers of the microsatellite mutator phenotype display characteristic genetic and clinical features. Gastroenterology 116 (1999) 1348-1357
15. Pinto M., Oliveira C., Machado J.C., Cirnes L., Tavares J., Carneiro F., Hamelin R., Hofstra R., Seruca R., and Sobrinho-Simoes M. MSI-L gastric carcinomas share the hMLH1 methylation status of MSI-H carcinomas but not their clinicopathological profile. Lab Invest 80 (2000) 1915-1923
16. Suzuki H., Itoh F., Toyota M., Kikuchi T., Kakiuchi H., Hinoda Y., and Imai K. Distinct methylation pattern and microssatellite instability in sporadic gastric cancer. Int J Cancer 83 (1999) 309-313
17. Toyota M., Ahuja N., Suzuki H., Itoh F., Ohe-Toyota M., Imai K., Baylin S.B., and Issa J.P. Aberrant methylation in gastric cancer associated with CpG island methylator phenotype. Cancer Res 59 (1999) 5438-5442
18. Wu Y., Nystrom-Lahti M., Osinga J., Looman M.W., Peltomaki P., Aaltonen L.A., de la Chapelle A., Hofstra R.M., and Buys C.H. MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis. Genes Chromosomes Cancer 18 (1997) 269-278
19. Wu Y., Berends M.J., Mensink R.G., Kempinga C., Sijmons R.H., van Der Zee A.G., Hollema H., Kleibeuker J.H., Buys C.H., and Hofstra R.M. Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations. Am J Hum Genet 65 (1999) 1291-1298
20. Pinto M., Wu Y., Suriano G., Mensink G.J., Duval A., Oliveira C., Carvalho B., Hamelin R., Seruca R., and Hofstra R.M.W. MBD4 mutations are rare in sporadic microsatellite instability gastric carcinomas. Cancer Genet Cytogenet 145 (2003) 1-5
21. Borresen A.L., Lothe R.A., Meling G.I., Lystad S., Morrison P., Lipford J., Kane M.F., Rognum T.O., and Kolodner R.D. Somatic mutations in the hMSH2 gene in microsatellite unstable colorectal carcinomas. Hum Mol Genet 4 (1995) 2065-2072
22. Katabuchi H., van Rees B., Lambers A.R., Ronnett B.M., Blazes M.S., Leach F.S., Cho K.R., and Hedrick L. Mutations in DNA mismatch repair genes are not responsible for microsatellite instability in most sporadic endometrial carcinomas. Cancer Res 55 (1995) 5556-5560
23. Kowalski L.D., Mutch D.G., Herzog T.J., Rader J.S., and Goodfellow P.J. Mutational analysis of MLH1 and MSH2 in 25 prospectively acquired RER+ endometrial cancers. Genes Chromosomes Cancer 18 (1997) 219-227
24. Moslein G., Tester D.J., Lindor N.M., Honchel R., Cunningham J.M., French A.J., Halling K.C., Schwab M., Goretzki P., and Thibodeau S.N. Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. Hum Mol Genet 5 (1996) 1245-1252
25. Thibodeau S.N., French A.J., Roche P.C., Cunningham J.M., Tester D.J., Lindor N.M., Moslein G., Baker S.M., Liskay R.M., Burgart L.J., Honchel R., and Halling K.C. Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes. Cancer Res 56 (1996) 4836-4840
26. Duval A., Rolland S., Compoint A., Tubacher E., Iacopetta B., Thomas G., and Hamelin R. Evolution of instability at coding and non-coding repeat sequences in human MSI-H colorectal cancers. Hum Mol Genet 10 (2001) 513-518