Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk

Ketty Peris, J Di Lucca, M Guedj, J Lacapère, Mc Fargnoli, A Bourillon, P Dieudé, N Dupin, P Wolkenstein, P Aegerter, P Saiag, V Descamps, C Lebbe, N Basset Seguin, B Grandchamp, N. Soufir

Risultato della ricerca: Contributo in rivistaArticolo in rivista

27 Citazioni (Scopus)

Abstract

Xeroderma pigmentosum variant (XPV) is a rare recessive autosomal genodermatosis predisposing to multiple early onset skin cancers, including melanoma. XPV results from mutations of the POLH gene that encodes a DNA translesion polymerase. In this work, we tested the hypothesis that POLH variants could be associated with melanoma risk.
Lingua originaleEnglish
pagine (da-a)3228-3236
Numero di pagine9
RivistaEuropean Journal of Cancer
Volume45
DOI
Stato di pubblicazionePubblicato - 2009

Keywords

  • Adolescent
  • Adult
  • Child
  • DNA Repair
  • DNA-Directed DNA Polymerase
  • Epidemiologic Methods
  • European Continental Ancestry Group
  • Female
  • France
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Hair Color
  • Humans
  • Italy
  • Male
  • Melanoma
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Skin Neoplasms
  • Skin Pigmentation
  • Sunburn
  • Ultraviolet Rays
  • Xeroderma Pigmentosum
  • Young Adult

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