title: Phenotypic and histologic characteristics of cutaneous melanoma in patients with melanocortin-1 receptor polymorphisms.
abstract: BACKGROUND
  The melanocortin-1 receptor (MC1R) is an important risk factor for melanoma due to its role in the production of melanin in response to sun exposure.
  
  
  OBJECTIVE
  To analyze the phenotypic and histologic characteristics of cutaneous melanoma in patients carrying mutations in MC1R and assess the influence of sun exposure on the occurrence of melanoma.
  
  
  METHODS
  A total of 224 patients with a diagnosis of melanoma seen in the Department of Dermatology at Hospital General Universitario Gregorio Marañón in Madrid, Spain between September 2004 and December 2009 were included in the study. The genomic sequence of MC1R was analyzed by polymerase chain reaction.
  
  
  RESULTS
  At least one of the following MC1R variants was present in 58% of the patients: V60L, V92M, I155T, R160W, D294H, and R163Q. Carriers of those variants had a history of sunburn (P=.018) and melanomas located on areas with intermittent sun exposure (P=.019), and the majority had a diagnosis of superficial spreading melanoma. These associations were especially significant in patients with the R160W and D294H variants. Carriers of R160W also had melanomas associated with melanocytic nevi (P=.028).
  
  
  CONCLUSIONS
  The results of our study suggest that there may be a relationship between the expression of certain MC1R variants and sun exposure, history of sunburn, and skin type. They also indicate a higher frequency of superficial spreading melanomas and melanomas associated with melanocytic nevi in patients carrying certain mutations in MC1R.
authors.affiliation: Servicio de Dermatología, Hospital General Universitario Gregorio Marañón, Madrid, Spain. jaavilesizquierdo@gmail.com
authors.forename: J A
authors.initials: JA
authors.lastname: Avilés
authors.forename: P
authors.initials: P
authors.lastname: Lázaro
authors.forename: L P
authors.initials: LP
authors.lastname: Fernández
authors.forename: J
authors.initials: J
authors.lastname: Benítez
authors.forename: M
authors.initials: M
authors.lastname: Ibarrola-Villava
authors.forename: G
authors.initials: G
authors.lastname: Ribas
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008545:Melanoma / Q000453:epidemiology / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D009381:Neoplasms, Radiation-Induced / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D009508:Nevus, Pigmented / Q000453:epidemiology / Q000235:genetics; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics* / Q000502:physiology; D017422:Sequence Analysis, DNA; D012878:Skin Neoplasms / Q000453:epidemiology / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D013030:Spain / Q000453:epidemiology; D013471:Sunburn / Q000453:epidemiology; D013472:Sunlight / Q000009:adverse effects*; D055815:Young Adult
chemical_list: D004273:DNA, Neoplasm; D009363:Neoplasm Proteins; D044102:Receptor, Melanocortin, Type 1