Does the addition of information on genotype improve prediction of the risk of melanoma and nonmelanoma skin cancer beyond that obtained from skin phenotype?

Am J Epidemiol. 2004 May 1;159(9):826-33. doi: 10.1093/aje/kwh120.

Abstract

The authors quantified improvement in predicting cutaneous malignant melanoma, basal cell carcinoma, and squamous cell carcinoma of the skin made possible by information on common variants of the melanocortin-1 receptor gene (MC1R) in a 1998-1999 population-based case-control study of subjects aged 20-59 years of northern European ancestry in Tasmania, Australia. Melanin density at the upper inner arm was estimated by spectrophotometry. DNA samples were genotyped for five MC1R variants: Val60Leu, Asp84Glu, Arg151Cys, Arg160Trp, and Asp294His. Among controls (n = 267), variant carriers, versus noncarriers, had lower (p < 0.01) mean melanin concentrations. Increased risk conferred by genotype was restricted mainly to those with the darkest skins: for subjects with at least 2% melanin, the odds of carrying each additional variant were higher for cutaneous malignant melanoma (n = 39; odds ratio = 1.45, 95% confidence interval: 0.87, 2.44), basal cell carcinoma (n = 35; odds ratio = 1.86, 95% confidence interval: 1.14, 3.02), and squamous cell carcinoma (n = 42; odds ratio = 2.67, 95% confidence interval: 1.50, 4.74) cases than for controls (n = 135). Adding MC1R information to prediction based on age, sex, and cutaneous melanin increased the area under the receiver operating characteristic curve by 1.4% (cutaneous malignant melanoma), 3.2% (basal cell carcinoma), or 2.0% (squamous cell carcinoma). The improvement in prediction was probably too small to be valuable in a clinical setting.

Publication types

  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • Adult
  • Carcinoma, Basal Cell / epidemiology
  • Carcinoma, Basal Cell / genetics*
  • Carcinoma, Squamous Cell / epidemiology
  • Carcinoma, Squamous Cell / genetics*
  • Case-Control Studies
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing / methods*
  • Genetic Testing / standards
  • Genetic Variation / genetics
  • Genotype*
  • Humans
  • Male
  • Melanins / analysis
  • Melanoma / epidemiology
  • Melanoma / genetics*
  • Middle Aged
  • Population Surveillance / methods
  • Predictive Value of Tests
  • ROC Curve
  • Receptor, Melanocortin, Type 1 / genetics*
  • Registries
  • Risk Assessment / methods
  • Risk Factors
  • Skin / chemistry
  • Skin Neoplasms / epidemiology
  • Skin Neoplasms / genetics*
  • Spectrophotometry / methods
  • Spectrophotometry / standards
  • Tasmania / epidemiology

Substances

  • Melanins
  • Receptor, Melanocortin, Type 1