IU cancer researcher, colleagues find new areas in human genome linked to increased risk of skin cancer

  • July 22, 2016

INDIANAPOLIS – An Indiana University cancer researcher and colleagues have found genomic regions that are linked with an increased risk of skin cancer.

Jiali Han, Ph.D., the Rachel Cecile Efroymson Professor in Cancer Research at IU School of Medicine and professor and chair of the Department of Epidemiology at the IU Richard M. Fairbanks School of Public Health, and colleagues identified new genomic regions that confer susceptibility to squamous cell skin cancer.

The findings were published online on July 18 in Nature Communications.

Dr. Han, the study's co-senior and co-corresponding author and a researcher at the Indiana University Melvin and Bren Simon Cancer Center, said the significance of the finding is that it provides new insights into the etiology of skin cancer. He and his colleagues identified four additional loci -- locations on a person’s genome -- that had not been previously reported that are susceptible to the development of squamous cell skin cancer.

"This type of molecular and genetic epidemiological research provides a foundation for precision medicine," Dr. Han said. "Precision medicine is an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person."

He added: "Our findings may potentially provide a genetic testing tool for prevention and screening for a highly susceptible population."

The researchers made the discovery by using a new way to conduct genomic research. They used a two-stage genome-wide association meta-analysis with a total of 7,404 cases and 292,076 controls from the commercial genetic testing company 23andMe research participant cohort and the Nurses’ Health Study and the Health Professionals Follow-Up Study.

Dr. Han said that further studies are needed to learn more about these new genomic regions that have been discovered.

"Our findings show us new biology and pathways in terms of skin cancer development. Basic scientists will next be able to follow-up on the function of those genes and their relationship as to how skin cancer develops," he said.

There are several types of skin cancer. Squamous cell and basal cell are also known as non-melanoma skin cancers. Both usually respond to treatment and rarely spread to other parts of the body, according to the National Cancer Institute. However, melanoma is more aggressive and can spread to other parts of the body, if it’s not diagnosed early.

Other authors of the study included Yuan Lin, Ph.D., Wenting Wu, Ph.D., and Hong-Ji Dai, Ph.D., of Indiana University; Harvind Chahal, M.D., Kavita Sarin, M.D., Jean Tang, M.D., and Katherine Ransohoff, M.D., of Stanford University; Peter Kraft, Ph.D., of Harvard University; Wen-Qing Li, Ph.D., and Abrar Qureshi, M.D., of Brown University; and David Hinds, Ph.D., of 23andMe Inc. 

The study was supported by a grant from the National Human Genome Research Institute of the National Institutes of Health (R44HG006981) and grants from the National Cancer Institute (R01CA49449, P01CA87969, UM1CA186107, UM1CA167552).

Dr. Han, an epidemiologist, is widely known for his skin cancer research. He has demonstrated a link between tanning bed exposure and increased risk of basal cell carcinoma, the most common form of skin cancer. He has also published studies that indicate caffeinated coffee consumption lowers the risk of developing this specific skin cancer. Most recently, he has shown that those with a personal history of prostate cancer also have a greater chance of developing melanoma, the most deadly type of skin cancer.

Jiali Han, Ph.D.

Jiali Han, Ph.D.

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Michael Schug