A impressive, genome-wide association study of some 17,187 cases of basal cell carcinoma (BCC) and 287,054 controls was carried out recently by researchers at 23andMe and the Stanford University School of Medicine. The results associated 31 genetic markers with the disease, 14 of which were identified for the first time. These findings account for nearly 11% of the hereditary risk for BCC.
Associations were found particularly in gene regions involved in maintaining telomeres, regulating the immune system and tumor progression, and those regions already implicated in skin cell regulation. Furthermore, these gene regions appeared to exert a larger effect in younger individuals, suggesting environmental factors for BCC might become more influential with aging. Interestingly, a significant interaction between a marker in the LPP gene and hair color, specifically light brown and dark brown/black-haired groups, was observed. This suggests the LPP gene marker increases the risk of BCC in individuals having brown or black hair.
Understanding genetic and environmental factors that drive cancer has the potential to help researchers better predict who may be at risk, make faster diagnoses and develop more precise treatments. BCC is the most common cancer worldwide with an annual incidence of 2.8 million cases in the United States alone. Previous studies demonstrated an association between 21 distinct genetic indicators and BCC risk; the present study confirmed 17 and identified 14 new ones, providing insight into the pathogenesis of BCC.