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Genetic and environmental factors underlying keratinocyte carcinoma risk
Hélène Choquet, … , Maryam M. Asgari, Eric Jorgenson
Hélène Choquet, … , Maryam M. Asgari, Eric Jorgenson
Published May 21, 2020
Citation Information: JCI Insight. 2020;5(10):e134783. https://doi.org/10.1172/jci.insight.134783.
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Review

Genetic and environmental factors underlying keratinocyte carcinoma risk

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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.

Authors

Hélène Choquet, Sepideh Ashrafzadeh, Yuhree Kim, Maryam M. Asgari, Eric Jorgenson

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Figure 2

Venn diagram of KC genetic factors.

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Venn diagram of KC genetic factors.
While squamous cell carcinoma (SCC) ...
While squamous cell carcinoma (SCC) and basal cell carcinoma (BCC) have several independent risk factors, both share a subset of associated genetic loci. GWAS-identified genetic loci (black) associated at a genome-wide level of significance (P < 5.0 × 10-8) with SCC, BCC, or both. Inherited disorders genes (green). Genetic loci identified in both GWAS and inherited disorders (red). Genetic loci are order alphabetically. Illustrated by Rachel Davidowitz.

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