title: 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.
abstract: MUTYH glycosylase recognizes the 8-oxoG:A mismatch and is able to excise the adenine base using proofreading mechanisms. Some papers have reported a strong association between cancer development or aggressiveness and MUTYH gene mutations. The aim of this study was to find a possible association between the most frequent MUTYH mutations and melanoma in the context of a case-control pilot study. One hundred ninety-five melanoma patients and 195 healthy controls were matched for sex and age. Clinical and laboratory data were collected in a specific database and all individuals were analyzed for MUTYH mutations by high-resolution melting and direct sequencing techniques. Men and women had significantly different distributions of tumor sites and phototypes. No significant associations were observed between the Y165C, G382D and V479F MUTYH mutations and risk of melanoma development or aggressiveness. Our preliminary findings therefore do not confirm a role for MUTYH gene mutations in the melanoma risk. Further studies are necessary for the assessment of MUTYH not only in melanoma but also other cancer types with the same embryonic origin, in the context of larger arrays studies of genes involved in DNA stability or integrity.
authors.affiliation: Laboratory of Clinical Molecular Diagnostics, Institute of Biochemistry and Clinical Biochemistry; Catholic University, Rome, Italy.
authors.forename: Concetta
authors.initials: C
authors.lastname: Santonocito
authors.forename: Andrea
authors.initials: A
authors.lastname: Paradisi
authors.forename: Rodolfo
authors.initials: R
authors.lastname: Capizzi
authors.forename: Eleonora
authors.initials: E
authors.lastname: Torti
authors.forename: Sara
authors.initials: S
authors.lastname: Lanza-Silveri
authors.forename: Romina
authors.initials: R
authors.lastname: Penitente
authors.forename: Cecilia
authors.initials: C
authors.lastname: Zuppi
authors.forename: Ettore
authors.initials: E
authors.lastname: Capoluongo
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D045647:DNA Glycosylases / Q000235:genetics* / Q000378:metabolism; D045643:DNA Repair Enzymes; D005260:Female; D006151:Guanosine / Q000031:analogs & derivatives / Q000378:metabolism; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D008875:Middle Aged; D025202:Molecular Diagnostic Techniques; D009361:Neoplasm Invasiveness; D010865:Pilot Projects; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D017422:Sequence Analysis, DNA; D012878:Skin Neoplasms / Q000235:genetics* / Q000401:mortality / Q000473:pathology
chemical_list: D006151:Guanosine; C046215:8-hydroxyguanosine; D045647:DNA Glycosylases; C061738:mutY adenine glycosylase; D045643:DNA Repair Enzymes