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MC1R variants increase risk of melanomas harboring BRAF mutations

  1. Author:
    Fargnoli, M. C.
    Pike, K.
    Pfeiffer, R. M.
    Tsang, S.
    Rozenblum, E.
    Munroe, D. J.
    Golubeva, Y.
    Calista, D.
    Seidenari, S.
    Massi, D.
    Carli, P.
    Bauer, J.
    Elder, D. E.
    Bastian, B. C.
    Peris, K.
    Landi, M. T.

  2. Author Address

    Landi, Maria T.] NCI, Genet Epidemiol Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA. [Fargnoli, Maria Concetta, Peris, Ketty] Univ Aquila, Dept Dermatol, I-67100 Laquila, Italy. [Pike, Kris, Tsang, Shirley, Rozenblum, Ester, Munroe, David J.] SAIC Frederick Inc, NCI Frederick, Adv Technol Program, Lab Mol Technol, Frederick, MD USA. [Golubeva, Yelena] SAIC Frederick Inc, NCI Frederick, Pathol Histotechnol Lab, Frederick, MD USA. [Calista, Donato] Bufalini Hosp, Dept Dermatol, Cesena, Italy. [Seidenari, Stefania] Univ Modena & Reggio Emilia, Dept Dermatol, Modena, Italy. [Massi, Daniela] Univ Florence, Dept Human Pathol & Oncol, Florence, Italy. [Carli, Paolo] Univ Florence, Dept Dermatol, Florence, Italy. [Bauer, Juergen, Bastian, Boris C.] Univ Calif San Francisco, Dept Pathol, San Francisco, CA USA. [Elder, David E.] Univ Penn, Dept Pathol, Philadelphia, PA 19104 USA.
    1. Year: 2008
    2. Date: Oct
  2. Journal: Journal of Investigative Dermatology
    1. 128
    2. 10
    3. Pages: 2485-2490
  4. Type of Article: Article
  1. Abstract:

    Melanocortin-1 receptor (MC1R) variants have been associated with BRAF(v-raf murine sarcoma viral oncogene homolog B1) mutations in non-CSD (chronic solar-damaged) melanomas in an Italian and an American population. We studied an independent Italian population of 330 subjects (165 melanoma patients and 165 controls) to verify and estimate the magnitude of this association and to explore possible effect modifiers. We sequenced MC1R in all subjects and exon 15 of BRAF in 92/165 melanoma patients. Patients with MC1R variants had a high risk of carrying BRAF mutations in melanomas (odds ratio (OR) = 7.0, 95% confidence interval (CI) = 2.1-23.8) that increased with the number of MC1R variants and variants associated with red hair color. Combining these subjects with the originally reported Italian population (513 subjects overall), MC1R variant carriers had a 5- to 15-fold increased risk of BRAF-mutant melanomas based on carrying one or two variants (P < 0.0001, test for trend), and regardless of signs of chronic solar damage. In contrast, no association with BRAF-negative melanomas was found (OR = 1.0, 95% CI = 0.6-1.6). No characteristics of subjects or melanomas, including age, nevus count, pigmentation, and melanoma thickness or location on chronically or intermittently sun-exposed body sites, substantially modified this association, although results could be affected by the small numbers in some categories. This study confirms that the known MC1R-melanoma risk association is confined to subjects whose melanomas harbor BRAF mutations.

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  2. DOI: 10.1038/jid.2008.67
  3. PMID: 18368129
  4. View record in Web of Science®
  5. WOS: 000259228600017

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