Kaiser Permanente Northern California, Division of Research, Oakland, California, USA.
Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts, USA.
JCI Insight. 2020 May 21;5(10):134783. 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.
最近的大规模全基因组关联研究和大型流行病学研究加速了角质细胞癌(KC)相关基因和环境因素的发现,其中包括基底细胞癌(BCC)和鳞状细胞癌(SCC)。本综述总结了与 SCC 和 BCC 风险相关的基因组区域,探讨了 SCC 和 BCC 之间的遗传重叠,并讨论了 SCC 和 BCC 发生发展所涉及的生物学途径。接下来,我们回顾了与 KC 风险相关的环境因素,包括 SCC 和 BCC 之间共有的因素以及仅与一种 KC 相关的因素。最后,我们对当前的研究进行了批判性评估,并为未来的研究提出了潜在的方向。