Common genetic variants of MUTYH are not associated with cutaneous malignant melanoma: Application of molecular screening by means of high-resolution melting technique in a pilot case-control study

International Journal of Biological Markers

Volumn 26, Issue 1, 2011, Pages 37-42

  Santonocito, Concetta ^a   Paradisi, Andrea ^a   Capizzi, Rodolfo ^a   Torti, Eleonora ^a   Lanza Silveri, Sara ^a   Penitente, Romina ^a   Zuppi, Cecilia ^a   Capoluongo, Ettore ^a  

^a CATHOLIC UNIVERSITY   (Italy)

Author keywords

Base excision repair; Melanoma; MUTYH

Indexed keywords

ADULT; ARTICLE; CANCER RISK; CASE CONTROL STUDY; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MELANOMA; MUTYH GENE; PILOT STUDY; TUMOR GENE;

ADULT; AGED; CASE-CONTROL STUDIES; DNA GLYCOSYLASES; DNA REPAIR ENZYMES; FEMALE; GUANOSINE; HUMANS; MALE; MELANOMA; MIDDLE AGED; MOLECULAR DIAGNOSTIC TECHNIQUES; NEOPLASM INVASIVENESS; PILOT PROJECTS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK; SEQUENCE ANALYSIS, DNA; SKIN NEOPLASMS;

EID: 79953666216     PISSN: 03936155     EISSN: None     Source Type: Journal    
DOI: 10.5301/JBM.2011.6285     Document Type: Article

References (36)

1. Schaffer J V, Rigel DS, Kopf AW, Bolognia JL. Cutaneous melanoma: past, present and future. J Am Acad Dermatol 2004; 51: S65-9.
2. Ferlay J, Bray F, Pisani P, Parkin DM. Cancer incidence, mortality and prevalence worldwide, version 1.0. Lyon: IARC Press. IARC Cancer Base No. 5. 2001.
3. De Carli A, La Vecchia C. Environmental factors and cancer mortality in Italy: correlational exercise. Oncology 1986; 43: 116-26.
4. Wilson DM 3rd, Sofnowski TM, McNeill DR. Repair mechanisms for oxidative DNA damage. Front Biosci 2003; 8: 963-81.
5. Sander CS, Chang H, Hamm F, Elsner P, Thiele JJ. Role of oxidative stress and the antioxidant network in cutaneous carcinogenesis. Int J Dermatol 2004; 43: 326-35.
6. Tucker MA, Goldstein AM. Melanoma etiology: where are we? Oncogene 2003; 22: 3042-52.
7. Frosina G. Commentary: DNA base excision repair defects in human pathologies. Free Radic Res 2004; 38: 1037-54.
8. Parker A P, Eshleman JR. Human MutY: gene structure, protein functions and interactions, and role in carcinogenesis. Cell Mol Life Sci 2003; 60: 2064-83.
9. Eiberger W, Volkmer B, Amouroux R, Dhérin C, Radicella J P, Epe B. Oxidative stress impairs the repair of oxidative DNA base modifcations in human skin fbroblasts and melanoma cells. DNA Repair (Amst) 2008; 7: 912-21.
10. de Boer JG. Polymorphisms in DNA repair and environmental interactions. Mutat Res 2002; 509: 201-10.
11. Al-Tassan N, Chmiel NH, Maynard J, et al. Inherited variants of MYH associated with somatic G:C _ T:A mutations in colorectal tumors. Nat Genet 2002; 30: 227-32.
12. Jones S, Emmerson P, Maynard J. Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C_ T:A mutations. Hum Mol Genet 2002; 11: 2961-7.
13. Sampson JR, Jones S, Dolwani S, Cheadle JP. MutYH (MYH) and colorectal cancer. Biochem Soc Trans 2005; 33: 679-83.
14. Sieber OM, Lipton L, Crabtree M. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003; 348: 791-9.
15. Isidro G, Laranjeira F, Pires A. Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. Hum Mutat 2004; 24: 353-4.
16. Eliason K, Hendrickson BC, Judkins T. The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients. J Med Genet 2005; 42: 95-6.
17. Aretz S, Uhlhaas S, Goergens H. MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int J Cancer 2006; 119: 807-14.
18. Parker AR, Sieber OM, Shi C, et al. Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair. Carcinogenesis 2005; 26: 2010-8.
19. Ali M, Kim H, Cleary S, Cupples C, Gallinger S, Bristow R. Characterization of mutant MUTYH proteins associated with familial colorectal cancer. Gastroenterology 2008; 135: 499-507.
20. Argenziano G, Fabbrocini G, Carli P, De Giorgi V, Sammarco E, Delfno M. Epiluminescence microscopy for the diagnosis of doubtful melanocytic skin lesions. Comparison of the ABCD rule of dermatoscopy and a new 7-point checklist based on pattern analysis. Arch Dermatol 1998; 134: 1563-70.
21. Balch CM, Gershenwald JE, Soong SJ, et al. Final version of 2009 AJCC melanoma staging and classifcation. J Clin Oncol 2009; 27: 6199-206.
22. Oliveria SA, Saraiya M, Geller AC, Heneghan MK, Jorgensen C. Sun exposure and risk of melanoma. Arch Dis Child 2006; 91: 131-8.
23. Matsuda M, Hoshino T, Yamashita Y, et al. Prevention of UVB radiation-induced epidermal damage by expression of heat shock protein 70. Biol Chem 2010; 285: 5848-58.
24. von Thaler AK, Kamenisch Y, Berneburg M. The role of ultraviolet radiation in melanomagenesis. Exp Dermatol 2010; 19: 81-8.
25. D'Agostino VG, Minoprio A, Torreri P, et al. Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis. DNA Repair (Amst) 2010; 9: 700-7.
26. Wooden SH, Bassett HM, Wood TG, McCullough AK. Identifcation of critical residues required for the mutation avoidance function of human MutY (hMYH) and implications in colorectal cancer. Cancer Lett 2004 8; 205: 89-95.
27. Lipton L, Tomlinson I. The multiple colorectal adenoma phenotype and MYH, a base excision repair gene. Clin Gastroenterol Hepatol 2004; 2: 633-8.
28. Cheadle JP, Sampson JR. MUTYH-associated polyposis--from defect in base excision repair to clinical genetic testing. DNA Repair (Amst) 2007; 6: 274-9.
29. Russo MT, De Luca G, Casorelli I, et al. Role of MUTYH and MSH2 in the control of oxidative DNA damage, genetic instability, and tumorigenesis. Cancer Res 2009; 15: 4372-9.
30. Küry S, Buecher B, Robiou-du-Pont S, et al. The thorough screening of the MUTYH gene in a large French cohort of sporadic colorectal cancers. Genet Test 2007; 11: 373-9.
31. Rajaraman P, Hutchinson A, Wichner S, et al. DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma. Neuro Oncol 2010; 12: 37-48.
32. Santonocito C, Capizzi R, Concolino P, et al. Association between cutaneous melanoma, Breslow thickness and vitamin D receptor BsmI polymorphism. Br J Dermatol 2007; 156: 277-82.
33. Sampson JR, Jones N. MUTYH-associated polyposis. Best Pract Res Clin Gastroenterol 2009; 23: 209-18.
34. Benjamin CL, Melnikova VO, Ananthaswamy HN. P53 protein and pathogenesis of melanoma and nonmelanoma skin cancer Adv Exp Med Biol 2008; 624: 265-82.
35. Pleasance ED, Cheetham RK, Stephens PJ, et al. A comprehensive catalogue of somatic mutations from a human cancer genome. Nature 2010; 463: 191-6.
36. Abdel-Malek ZA, Kadekaro AL, Swope VB. Stepping up melanocytes to the challenge of UV exposure. Pigment Cell Melanoma Res 2010; 23:171-86.