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Analysis reveals genetic clues to basal cell carcinoma risk

Kaiser Permanente study uses diverse patient data to examine common form of skin cancer

A large genetic analysis by Kaiser Permanente investigators identified 122 variations in the human genome related to basal cell carcinoma (BCC), 36 of them new. Their results were published in Communications Biology.

Basal cell carcinoma is one of the most common types of cancer and accounts for about 80% of skin cancers. It is most common among people with fair skin, a tendency to sunburn, and who have had exposure to environmental risk factors, including UV radiation exposure, immunosuppression, and ionizing radiation. People with more pigmented skin are less likely to get basal cell carcinoma, but they can get it.

Hélène Choquet, PhD

This study combined patient information held in 4 different genetic biobanks totaling 50,531 basal cell carcinoma cases, compared with 762,234 control subjects. The analysis yielded information on likely common genomic variations (known as single nucleotide polymorphisms, or SNPs) related to basal cell carcinoma.

“This type of research — a genome-wide association study, or GWAS — is important to fully understand the genetic landscape of disease, and the genetic picture for basal cell carcinoma was incomplete,” said lead author Hélène Choquet, PhD, a research scientist with the Kaiser Permanente Division of Research. “Knowing the locations on the genome associated with disease risk can assist researchers identifying the causal genes and developing potential therapies.”

The analysis also found 33 common genetic associations with the other type of keratinocyte carcinoma, cutaneous squamous cell carcinoma. As both types of skin cancer are derived from the same epidermal cell type (keratinocytes) but lead to two phenotypically distinct tumors, it is important to understand the distinct and common oncogenic pathways involved in their developments, Choquet said.

Data came in part from the Kaiser Permanente Research Program on Genes, Environment and Health (RPGEH); specifically the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort, a subgroup of more than 100,000 Kaiser Permanente Northern California members who volunteered their genetic and medical information for research. The other databases were the Mass General Brigham Biobank, UK Biobank, and 23andMe research cohort.

Choquet emphasized that while the findings themselves do not contribute directly to patient care, they provide guidance for other researchers to carry out functional work on the mechanisms of disease and potential treatments. The authors pointed out the potential of 14 specific candidate genes identified in the study that could be targeted by existing drugs.

“Aside from the potential of novel targeted therapeutics, knowledge of BCC genetic susceptibility loci can enhance risk prediction, early detection, and personalized prevention strategies, ultimately improving clinical outcomes for individuals at higher risk,” said senior author Maryam Asgari, MD, MPH, an adjunct investigator with the Kaiser Permanente Division of Research and professor and chair of dermatology at the University of Colorado.

The study was funded by the National Cancer Institute.

Additional co-authors were Chen Jiang, PhD, of the Division of Research (DOR), and Jie Yin, MS, a former DOR data analyst/programmer; Yuhree Kim, MD, of Massachusetts General Hospital; Thomas J. Hoffmann, PhD, of the UCSF Institute for Human Genetics; Eric Jorgenson, PhD, of the Regeneron Genetics Center; and the 23andMe Research Team of 23andMe, Inc.

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About the Kaiser Permanente Division of Research

The Kaiser Permanente Division of Research conducts, publishes and disseminates epidemiologic and health services research to improve the health and medical care of Kaiser Permanente members and society at large. It seeks to understand the determinants of illness and well-being, and to improve the quality and cost-effectiveness of health care. Currently, DOR’s 600-plus staff is working on more than 450 epidemiological and health services research projects. For more information, visit or follow us @KPDOR.

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