Number of known genetic contributors to BCC, SCC, doubled

A new study from Australia has identified 45 new genetic variants that increase the risk of developing basal cell carcinoma and squamous cell carcinoma (BCC and SCC). This approximately doubles the available genetic information on these cancers.

Published in Human Molecular Genetics, the study examined data from 48,000 people who were treated for BCCs and/or SCCs in Australia, the United Kingdom and the United States.

“We compared the genetic information of patients treated for BCCs and SCCs to that from 600,000 people without these cancers—which allowed us to identify which genes were different between the two groups,” said the study's senior author, associate professor Stuart MacGregor, PhD, in a press release.

Dr. MacGregor is the head of the statistical genetics group at the QIMR Berghofer Medical Research Institute in Queensland, Australia.

“We identified 45 new genes which had not previously been linked to these cancers. Most affected both BCCs and SCCs, although a few were specific to one or the other. Previously only about 40 genetic variants for these skin cancers had ever been identified.”

Dr. MacGregor said that while solar ultraviolet radiation exposure remains the greatest risk factor for skin cancer, his team's findings show that there are important inheritable factors to BCC and SCC risk. Another researcher on the paper, PhD candidate Upekha Liyanage, said in the release that the discovery of new genetic variants may help to explain why some people developed these skin cancers, while others who may have similar features, such as pale skin or freckles, did not.

“On the flip side, although the study looked only at the genetic information of light skinned people, identification of genetic markers could also explain why some people with darker skin types still get BCCs and SCCs,” Liyanage said.

Liyanage noted that while there is currently no genetic testing for skin cancers, a clearer understanding of genes involved in these cancers' development and their location within the human genome could aid other researchers in the development of therapies and preventative strategies.

“This research, which is the largest study to date into the genetic variants influencing BCCs and SCCs, is also valuable because it could be used to repurpose drugs that have already been approved for some conditions or that are under clinical trial, to speed up treatment options,” Liyanage said.

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