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Novel Gene-Sequencing Approach to Identifying Non-Melanoma Carcinoma Risk

By: Joshua D. Madera, MS
Posted: Tuesday, February 2, 2021

The cancer-related modifications to skin tissue may be measurable prior to their visibility on the skin, according to a study published in Sciences Advances. These findings may pave the way for future development of quantitative assessment or subclinical ultraviolet damage to improve cancer risk stratification and prevention of non-melanoma skin cancers, explained Lei Wei, PhD, of Roswell Park Comprehensive Cancer Center, Buffalo, New York, and colleagues.

A total of 900 human skin tissue samples that were sun-exposed (n = 450) and non–sun-exposed (n = 450) were collected from 26 postmortem donors for analysis. Ultra-deep DNA sequencing was used to compare clonal mutations between these tissue subtypes. Subsequently, polymerase chain reaction was utilized to sequence the adapters.

The study findings from the analysis revealed specific patterns in sun-exposed areas of the skin due to ultraviolet-induced mutations. These results were collected from minute skin samples, indicating the clinical value and relevance of this technique to compare and identify individual skin mutations and their characteristics. In addition, the authors isolated specific collections of microscopic cells with DNA alterations in the skin, which contributed to distinguishing the differences in ultraviolet-induced changed from age-related and environmentally related modifications. Specifically, the observed variations were focused on mutations in genes that alter protein function and are associated with DNA sequences. Moreover, these changes were increasingly observed in large sun-exposed areas as compared with non–sun-exposed regions.

“The ultraviolet-induced mutations often occur in specific sites or ‘hotspots’ of human genes, and, interestingly, some of these sites are rarely mutated in non–sun-exposed ski,n even with aging or other factors,” commented Dr. Wei in a Roswell Park press release.

Disclosure: For full disclosures of the study authors, visit advances.sciencemag.org.



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