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Certain genetic regions can increase the risk of skin cancer
Researchers have now identified eight new genomic regions that increase a person's risk of skin cancer. This knowledge massively improves our understanding of skin cancer.
Indiana University School of Medicine’s latest study found that eight newly identified genomic regions increased human skin cancer risk. The results of the study were published in the English language journal "Nature Communications".
22 loci increase the risk of skin cancer
The researchers identify eight new loci (gene locus = physical position of a gene in the genome) that are particularly susceptible to the development of squamous cell skin cancer. Previously, 14 loci with an increased risk of squamous cell carcinoma of the skin had been identified. The current study confirmed these results and added eight new genomic locations, bringing the total number of risk loci identified to 22.
The largest study on this topic to date
"This is the largest genetically-associated study of squamous cell carcinoma of the skin," says study author Professor Dr. Jiali Han of Indiana University School of Medicine in a press release. "Our multidisciplinary research sheds light on the new biology and aetiology of squamous cell carcinoma, confirms some important genes and also identifies the genes that are involved in this particular cancer development," added the scientist.
Where did the evaluated data come from?
The research group analyzed six international cohorts with a total of approximately 20,000 squamous skin cancer cases and 680,000 control persons or people who did not suffer from squamous skin cancer.
Certain genes are specific for squamous cell carcinoma
Research confirmed that pigmentation genes can also be a person's skin cancer susceptibility gene, but they also identified additional molecular pathways. "We can certainly say that there is some genetic overlap between squamous cell carcinoma, basal cell carcinoma and melanoma (the three main types of skin cancer), but we also found that some genes are specific for squamous cell carcinoma," explains Professor Dr. Han continues.
Differences in the types of skin cancer
Squamous cell carcinoma and basal cell carcinoma are also known as non-melanoma skin cancer. Both usually respond to treatment and rarely spread to other parts of the body. However, melanoma is more aggressive and can spread to other parts of the body if it is not diagnosed early.
Light skin and sun exposure increase the risk of squamous cell carcinoma
Physical-genomic features such as fair skin, freckles, blue eyes and brown hair have been associated with the risk loci. It has long been known that fair skin and sun exposure are risk factors for squamous cell carcinoma. "Avoiding sun exposure is always the primary prevention strategy, regardless of skin pigmentation," reports Professor Dr. Han.
More research is needed
Future research with an expanded population sample should identify additional risk loci. Even with the 22 identified genomic regions, the study found that they only explain 8.5 percent of the inheritable risk of squamous cell skin cancer. (as)
Author and source information
This text corresponds to the specifications of the medical literature, medical guidelines and current studies and has been checked by medical doctors.
- Kavita Y. Sarin, Yuan Lin, Roxana Daneshjou, Andrey Ziyatdinov, Gudmar Thorleifsson et al .: Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma, in Nature Communications (published 02/10/2020), Nature Communications
- IU cancer researcher identifies new areas in human genomes linked to skin cancer risk, Indiana University School of Medicine (Posted Feb 18, 2020), Indiana University School of Medicine