Genetic and environmental factors underlying keratinocyte carcinoma risk

JCI Insight. 2020 May 21;5(10):e134783. doi: 10.1172/jci.insight.134783.


Recent large-scale GWAS and large epidemiologic studies have accelerated the discovery of genes and environmental factors that contribute to the risk of keratinocyte carcinoma (KC), which includes basal cell carcinoma (BCC) and squamous cell carcinoma (SCC). This Review summarizes the genomic regions associated with SCC and BCC risk, examines the genetic overlap between SCC and BCC, and discusses biological pathways involved in SCC and BCC development. Next, we review environmental factors that are associated with KC risk, including those that are shared between SCC and BCC as well as others that associated with only one type of KC. We conclude with a critical appraisal of current research and potential directions for future research.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Carcinoma, Basal Cell* / genetics
  • Carcinoma, Basal Cell* / metabolism
  • Carcinoma, Basal Cell* / pathology
  • Carcinoma, Squamous Cell* / genetics
  • Carcinoma, Squamous Cell* / metabolism
  • Carcinoma, Squamous Cell* / pathology
  • Gene-Environment Interaction*
  • Humans
  • Keratinocytes* / metabolism
  • Keratinocytes* / pathology
  • Risk Factors
  • Skin Neoplasms* / genetics
  • Skin Neoplasms* / metabolism
  • Skin Neoplasms* / pathology