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Research Points to Certain Genetic Links to Cutaneous Squamous Cell Carcinoma

By: Celeste L. Dixon
Posted: Tuesday, January 8, 2019

A research team published work in Nature Communications defining 15 genes that may be associated with cutaneous squamous cell carcinoma. The investigators, including Alice S. Whittemore, PhD, of Stanford University School of Medicine, Stanford, California, used transcriptome-wide association studies (TWAS), in part, to validate these candidate genes, which include eight genes in five novel susceptibility loci and seven genes in four previously associated loci.

“Our results demonstrate that TWAS approaches provide a valuable supplement to individual–single-nucleotide polymorphism genome-wide association studies analyses and can identify additional trait-associated loci and candidate genes,” wrote Dr. Whittemore and colleagues.

The researchers’ data came from gene-expression levels in 6,891 cutaneous squamous cell carcinoma cases and 54,566 controls in the Kaiser Permanente Genetic Epidemiology Research in Adult Health and Aging cohort and from 25,558 self-reported cutaneous squamous cell carcinoma cases and 673,788 controls from 23andMe, a personal genetics company.

The cutaneous squamous cell carcinoma associations identified by the research team, along with results of previous work by other investigators, continue to point to genetic components of risk for this type of skin cancer. Furthermore, they concluded that their outcomes will “aid in selecting candidate genes to be prioritized in experimental studies.”

The eight genes in the five novel cutaneous squamous cell carcinoma susceptibility loci are CTSS, HORMAD1, GOLPH3L, and ANXA9 at 1q21; CASP8 at 2q33; AHI1 at 6q23; HAL at 12q23; and ORMDL3 at 17q21. The seven genes in the four previously cutaneous squamous cell carcinoma–associated loci are HLA-DOB, SKIV2L and HLA-DRB5 at 6p21; HERC2 at 15q13; CDK10 and FANCA at 16q24; and FAM83C at 20q11. 

Disclosure: Two of the study authors are employees of 23andMe; all other study authors reported no conflicts of interest.



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