Disease risk scores for skin cancers

Nat Commun. 2021 Jan 8;12(1):160. doi: 10.1038/s41467-020-20246-5.


We trained and validated risk prediction models for the three major types of skin cancer- basal cell carcinoma (BCC), squamous cell carcinoma (SCC), and melanoma-on a cross-sectional and longitudinal dataset of 210,000 consented research participants who responded to an online survey covering personal and family history of skin cancer, skin susceptibility, and UV exposure. We developed a primary disease risk score (DRS) that combined all 32 identified genetic and non-genetic risk factors. Top percentile DRS was associated with an up to 13-fold increase (odds ratio per standard deviation increase >2.5) in the risk of developing skin cancer relative to the middle DRS percentile. To derive lifetime risk trajectories for the three skin cancers, we developed a second and age independent disease score, called DRSA. Using incident cases, we demonstrated that DRSA could be used in early detection programs for identifying high risk asymptotic individuals, and predicting when they are likely to develop skin cancer. High DRSA scores were not only associated with earlier disease diagnosis (by up to 14 years), but also with more severe and recurrent forms of skin cancer.

Publication types

  • Observational Study
  • Validation Study

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Carcinoma, Basal Cell / epidemiology*
  • Carcinoma, Basal Cell / etiology
  • Carcinoma, Basal Cell / pathology
  • Carcinoma, Squamous Cell / epidemiology*
  • Carcinoma, Squamous Cell / etiology
  • Cross-Sectional Studies
  • Datasets as Topic
  • Direct-To-Consumer Screening and Testing / statistics & numerical data
  • Female
  • Follow-Up Studies
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Incidence
  • Longitudinal Studies
  • Male
  • Medical History Taking
  • Melanoma / epidemiology*
  • Melanoma / etiology
  • Melanoma / pathology
  • Middle Aged
  • Models, Statistical*
  • Neoplasm Recurrence, Local / epidemiology*
  • Neoplasm Recurrence, Local / etiology
  • Neoplasm Recurrence, Local / pathology
  • Odds Ratio
  • Prospective Studies
  • Risk Assessment / methods
  • Risk Factors
  • Skin / pathology
  • Skin / radiation effects
  • Skin Neoplasms / epidemiology*
  • Skin Neoplasms / etiology
  • Skin Neoplasms / pathology
  • Surveys and Questionnaires / statistics & numerical data
  • Ultraviolet Rays / adverse effects
  • White People / genetics