Clinically important molecular features of Peruvian colorectal tumours: High prevalence of DNA mismatch repair deficiency and low incidence of KRAS mutations

Pathology

Volumn 43, Issue 3, 2011, Pages 228-233

  Egoavil, C M ^a,d   Montenegro, P ^c   Soto, J L ^a   Casanova, L ^c   Sanchez Lihon, J ^c   Castillejo, M I ^a   Martinez Canto, A ^a   Perez Carbonell, L ^b   Castillejo, A ^a   Guarinos, C ^a   Barbera, V M ^a   Jover, R ^b   Paya, A ^b   Alenda, C ^b  

^a Hospital Universitario Elche   (Spain)

^b HOSPITAL GENERAL UNIVERSITARIO DE ALICANTE   (Spain)

^c INSTITUTO NACIONAL DE ENFERMEDADES NEOPLÁSICAS   (Peru)

^d Hospital Naval   (Peru)

Author keywords

BRAF mutations; Colorectal cancer; DNA mismatch repair deficiency; KRAS mutations; Microsatellite instability

Indexed keywords

DNA BINDING PROTEIN; KRAS PROTEIN, HUMAN; ONCOPROTEIN; RAS PROTEIN;

ADULT; AGED; ARTICLE; BASE MISPAIRING; CANCER STAGING; COLORECTAL TUMOR; DISORDERS OF DNA SYNTHESIS AND REPAIR; FEMALE; GENE SILENCING; GENETICS; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; METABOLISM; METHYLATION; MICROSATELLITE INSTABILITY; MIDDLE AGED; MISMATCH REPAIR; MUTATION; ONSET AGE; PATHOLOGY; PROMOTER REGION;

ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; BASE PAIR MISMATCH; COLORECTAL NEOPLASMS; DNA MISMATCH REPAIR; DNA REPAIR-DEFICIENCY DISORDERS; DNA-BINDING PROTEINS; FEMALE; GENE SILENCING; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; METHYLATION; MICROSATELLITE INSTABILITY; MIDDLE AGED; MUTATION; NEOPLASM STAGING; PROMOTER REGIONS, GENETIC; PROTO-ONCOGENE PROTEINS; RAS PROTEINS; YOUNG ADULT;

EID: 79960658214     PISSN: 00313025     EISSN: 14653931     Source Type: Journal    
DOI: 10.1097/PAT.0b013e3283437613     Document Type: Article

References (34)

1. Kinzler KW, Vogelstein B. Lessons from hereditary colorectal cancer. Cell 1996; 87: 159-70. (Pubitemid 26358996)
2. Miller BA, Kolonel LN, Bernstein L, et al. Racial/Ethnic Patterns of Cancer in the United States 1988-1992. Bethesda, MD: National Cancer Institute, 1996. NIH Pub. No. 96-4104.
3. Jass JR, Whitehall VL, Young J, et al. Emerging concepts in colorectal neoplasia. Gastroenterology 2002; 123: 862-76. (Pubitemid 34977092)
4. Ozturk M. p53 mutation in hepatocellular carcinoma after aflatoxin exposure. Lancet 1991; 338: 1356-9.
5. Farfan G, Cabezas C. Mortality due to digestive and hepatobiliary diseases in Peru, 1995-2000. Rev Gastroenterol Peru 2002; 22: 310-23.
6. Aaltonen LA, Peltomaki P, Leach FS, et al. Clues to the pathogenesis of familial colorectal cancer. Science 1993; 260: 812-6. (Pubitemid 23167611)
7. Vasen HF, Watson P, Mecklin JP, et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 1999; 116: 1453-6. (Pubitemid 29258894)
8. Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004; 96: 261-8. (Pubitemid 38256271)
9. de la Chapelle A, Hampel H. Clinical relevance of microsatellite instability in colorectal cancer. J Clin Oncol 2010; 28: 3380-7.
10. Fang JY, Richardson BC. The MAPK signalling pathways and colorectal cancer. Lancet Oncol 2005; 6: 322-7. (Pubitemid 40590269)
11. Lievre A, Bachet JB, Boige V, et al. KRAS mutations as an independent prognostic factor in patients with advanced colorectal cancer treated with cetuximab. J Clin Oncol 2008; 26: 374-9. (Pubitemid 351171687)
12. Di Nicolantonio F, Martini M, Molinari F, et al. Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. J Clin Oncol 2008; 26: 5705-12.
13. Jover R, Paya A, Alenda C, et al. Defective mismatch-repair colorectal cancer: clinicopathologic characteristics and usefulness of immunohistochemical analysis for diagnosis. Am J Clin Pathol 2004; 122: 389-94. (Pubitemid 39145544)
14. Xicola RM, Llor X, Pons E, et al. Performance of different microsatellite marker panels for detection of mismatch repair-deficient colorectal tumors. J Natl Cancer Inst 2007; 99: 244-52.
15. Deng G, Bell I, Crawley S, Gum J, et al. BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer. Clin Cancer Res 2004; 10: 191-5. (Pubitemid 38114179)
16. Nagasaka T, Koi M, Kloor M, et al. Mutations in both KRAS and BRAF may contribute to the methylator phenotype in colon cancer. Gastroenterology 2008; 134: 1950-60.
17. Deng G, Chen A, Hong J, Chae HS, Kim YS. Methylation of CpG in a small region of the hMLH1 promoter invariably correlates with the absence of gene expression. Cancer Res 1999; 59: 2029-33. (Pubitemid 29217657)
18. Jeuken JW, Cornelissen SJ, Vriezen M, et al. MS-MLPA: an attractive alternative laboratory assay for robust, reliable, and semiquantitative detection of MGMT promoter hypermethylation in gliomas. Lab Invest 2007; 87: 1055-65. (Pubitemid 47429190)
19. Altekruse S, Kosary C, Krapcho M, et al., editors. SEER Cancer Statistics Review, 1975-2007, National Cancer Institute. Bethesda, MD: National Cancer Institute, 2010 (based on November 2009 SEER data submission, posted to the SEER web site, 2010). http://seer.cancer.gov/csr/1975-2007/.
20. Instituto Nacional de Enfermedades Neoplásicas (INEN). Estadísticas Datos Epidemiológicos. Lima: INEN, 2009. http://www.inen.sld.pe/ portal/estadisticas/datos-epidemiologicos.html.
21. Torres Zavala NM, Yan Quiroz EF, et al. Prognostic factors of survival in obstructive and non-obstructive excisable colorectal cancer. Rev Gastroenterol Peru 2006; 26: 363-72.
22. Rodriguez-Bigas MA, Boland CR, Hamilton SR, et al. A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 1997; 89: 1758-62.
23. Pinol V, Castells A, Andreu M, et al. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 2005; 293: 1986-94. (Pubitemid 40570892)
24. Yagci T, Goksel S, Dogan O, et al. Genomic instability in colorectal cancers in Turkey. Int J Cancer 1996; 68: 291-4. (Pubitemid 26384129)
25. Nakashima H, Mori M, Mimori K, et al. Microsatellite instability in Japanese colorectal carcinoma. Oncol Rep Oncol Rep 1997; 4: 387-9. (Pubitemid 27106965)
26. Gupta S, Ashfaq R, Kapur P, et al. Microsatellite instability among individuals of Hispanic origin with colorectal cancer. Cancer 2010; 116: 4965-72.
27. De Jesus-Monge WE, Gonzalez-Keelan C, Zhao R, et al. Mismatch repair protein expression and colorectal cancer in Hispanics from Puerto Rico. Fam Cancer 2010; 9: 155-66.
28. Clarizia AD, Bastos-Rodrigues L, Pena HB, et al. Relationship of the methylenetetrahydrofolate reductase C677T polymorphism with microsatellite instability and promoter hypermethylation in sporadic colorectal cancer. Genet Mol Res 2006; 5: 315-22. (Pubitemid 43991970)
29. Leite SM, Gomes KB, Pardini VC, et al. Assessment of microsatellite instability in colorectal cancer patients from Brazil. Mol Biol Rep 2010; 37: 375-80.
30. Kim H, Jen J, Vogelstein B, Hamilton SR. Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellite sequences. Am J Pathol 1994; 145: 148-56. (Pubitemid 24217493)
31. Mvundura M, Grosse SD, Hampel H, et al. The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer. Genet Med 2010; 12: 93-104.
32. Andreyev HJ, Norman AR, Cunningham D, et al. Kirsten ras mutations in patients with colorectal cancer: the 'RASCAL II' study. Br J Cancer 2001; 85: 692-6. (Pubitemid 32929467)
33. Peyssonnaux C, Eychene A. The Raf/MEK/ERK pathway: new concepts of activation. Biol Cell 2001; 93: 53-62. (Pubitemid 33040860)
34. Davies H, Bignell GR, Cox C, et al. Mutations of the BRAF gene in human cancer. Nature 2002; 417: 949-54. (Pubitemid 34716871)