Genomic Analysis Reveals Basal Cell Carcinoma Loci Across Ethnically Diverse Patient Population

By: Joshua D. Madera, MD
Posted: Monday, May 13, 2024

Given the increased incidence of basal cell carcinoma, efforts have been dedicated to identifying genetic determinants that may serve as potential therapeutic targets, according to a study published in Communications Biology. The current study provides additional insight into basal cell carcinoma and cutaneous squamous cell carcinoma genetic susceptibility, and it identified shared genetic risk factors between these cancers, explained Hélène Choquet, PhD, of Kaiser Permanente Northern California, Oakland, and colleagues.

Data from 49,905 European patients with basal cell carcinoma were collected and analyzed. These data were compared with those of 752,392 control patients. An additional subset analysis was performed on the 626 Hispanic or Latino patients with basal cell carcinoma and was also compared with control patients (n = 9,842). A genome-wide association meta-analysis was performed to identify genetic variations that may explain the pathogenesis of basal cell carcinoma and to calculate polygenic risk scores.

The study authors reported the identification of 122 loci that were significantly associated with basal cell carcinoma. A total of 36 of these loci were newly identified within their genome-wide meta-analysis. Furthermore, Hispanic or Latino patients with basal cell carcinoma were noted to have significant associations with CLPTM1L, RCC2, and SLC45A2. Moreover, analyses examining whether an association exists between basal cell carcinoma loci and cutaneous squamous cell carcinoma revealed a potential association with 33 single nucleotide polymorphisms. The comprehensive analysis suggested approximately 14 genes that may be suitable therapeutic targets: AHR, CCND1, CTLA4, CTSS, FGF1, GABBR1, GLRA1, HLA-DRB5, ICOS, IL2RA, PIK3R1, TLR3, TP53, and VDR.