December 11, 2012
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Researchers use genetics to refine model for assessing skin cancer risk

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The risk for developing skin cancer involves numerous genetic factors, including family history or ancestry, based on a whole-genome prediction model developed by researchers, according to a recent study.

Researchers reviewed data from 5,132 participants in the Framingham Heart Study, which had gathered information from three generations of families. Standard risk factors, including sex, were included in the most basic risk evaluation mode, according to a news release from the Genetics Society of America. By combining family history, ethnicity and data from 41,000 genetic markers across the human genome, researchers developed additional predictive models that were evaluated using area under the receiver operating characteristics curve (AUC) and estimated via cross-validation.

Ana_Ines_Vazquez 

Ana Ines Vazquez

Incorporating genetic information — including familial relationships, principal components (PCs) of informative markers or whole-genome prediction (WGP) — displayed “a significant increase in prediction accuracy: from an AUC of 0.53 for a baseline model that accounted for nongenetic covariates to AUCs of 0.58 [pedigree], 0.62 [PCs] and 0.64 [WGP],” according to the researchers.

For the original cohort (n=1,498; evaluated from 1948 to 2006) and offspring cohort (n=3,634; conducted from 1971 to 2006; third generation not included), overall skin cancer incidence was 14.1%. Men (16%) had a higher incidence than women (13%); the original cohort (17%), which had a longer follow-up, had greater incidence than offspring (13%).

“Prediction substantially improved by using genetic parameters in the predictive models,” the researchers concluded. “WGP is a promising tool for estimating individual genetic predisposition to skin cancer before it is detected or even developed. We speculate that genomic information may be used to prospectively identify individuals with particularly high risk of developing skin cancer.”

“This research will not have any direct impact for the treatment of skin cancer in the immediate term,” the researchers, led by Ana Inés Vàzquez, PhD, assistant professor in the Department of Biostatics at University of Alabama at Birmingham, reported to Healio.com. “Much more developments are needed before this methodology can be used clinically or in public health to establish prevention strategies or select treatments.”