23andMe Data Helps ID BCC Risk Genes

August 18, 2016

New research out of 23andMe and Stanford University School of Medicine pinpoints 31 genetic associations for basal cell carcinoma (BCC), 14 of which are all new.

Taken together, these associations are estimated to explain almost 11 percent of the genetic risk for BCC, according to the study, which appears in Nature Communications.

“I think these phenotypes will help us make better predictions and inform people about their risks of skin cancer and other cancers,” says David Hinds, PhD, 23andMe Principal Scientist and Geneticist.“When we combine information about genetic risk with information about environmental exposures, we can understand who is most at risk and who would be most likely to benefit from controlling exposure to sun and using sunblock.”

The study follows another recent 23andMe and Stanford study that focused on squamous cell carcinoma. Both studies were carried out using data from 23andMe customers who consented to participate in research and had reported having either basal cell carcinoma or squamous cell carcinoma. The new findings were confirmed via data from from the Nurses’ Health Study and the Health Professionals Follow-Up Study.

In the new study, regions associated with basal cell carcinoma appeared to exert a greater effect in younger individuals, suggesting that environmental factors for basal cell carcinoma might become more influential with age. What’s more, there was a significant interaction between a genetic marker in a gene called LPP and hair color, specifically light brown and dark brown/black hair groups. This suggests that the LPP marker is exerting a bigger effect on BCC risk for in people with brown or black hair.             

Genetic associations were found in gene regions involved in maintaining telomeres, regulating the immune system and tumor progression, as well as those already thought to regulate skin cells.

“One of the interesting findings is that regions involving immunity were involved,” Hinds says. “A very hot topic in cancer genetics is the role of the immune system in watching out for developing cancers. Many times cancer gets taken care of by body before it develops,  and immunotherapy enhances the body’s ability to treat cancer.”




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