Abstract
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.
Highlights
Keratinocyte carcinoma (KC), which includes squamous cell carcinoma (SCC) and basal cell carcinoma (BCC), is one of the most common malignancies worldwide (1)
Genetic risk factors that affect pigment reflect shared disease risk, but other genetic risk factors appear specific to SCC or BCC
Environmental risk factors, including UV radiation exposure and immunosuppression, are shared between SCC and BCC (5, 6); tobacco use and photosensitizing medications are associated with SCC development, while ionizing radiation is associated with BCC development (7–10)
Summary
Keratinocyte carcinoma (KC), which includes squamous cell carcinoma (SCC) and basal cell carcinoma (BCC), is one of the most common malignancies worldwide (1). A better understanding of the etiology of KCs can aid treatment and prevention efforts. Both SCC and BCC are derived from epidermal keratinocytes (2) (Figure 1) but diverge along distinct oncogenic pathways, giving rise to two phenotypically distinct tumors (3). Pigmentary traits, such as fair skin, light eye color, blonde or red hair, and a tendency to sunburn are strong and independent risk factors for both SCC and BCC (4). Environmental risk factors, including UV radiation exposure and immunosuppression, are shared between SCC and BCC (5, 6); tobacco use and photosensitizing medications are associated with SCC development, while ionizing radiation is associated with BCC development (7–10). Understanding the shared and unique genetic and environmental risk factors can help guide treatment and prevention strategies for patients prone to SCC, BCC, or both
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