[7 min read] 45 new genetic causes of non-melanoma skin cancer identified

An Australian study has discovered 45 new genetic variants that put people at higher risk of developing basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) – the most common form of skin cancers.

The research by scientists at QIMR Berghofer Medical Research Institute more than doubles the genetic information now available on these cancers.

Skin cancer is a major burden in Australia, with non-melanoma skin cancer costing Medicare in excess of $100 million, with the total associated costs including diagnosis, treatment and pathology exceeding $700 million, making it the nation’s most costly cancer.

Due to their vast numbers, the exact number of new cases of SCC and BCC is unknown, but the number is estimated to be around 800,000 a year – more than all other cancers combined.

QIMR Berghofer’s Statistical Genetics group examined data from 48,000 people who were treated for BCCs and/or SCCs in Australia, the United Kingdom and the United States.

The study compared the genetic information of patients treated for BCCs and SCCs to that from 600,000 people without these cancers, allowing them to identify which genes were different between the two groups.

They 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.

While UV radiation exposure is the biggest risk factor for developing skin cancers, this study shows there are important inherited contributions underlying BCCs and SCCs as well.

The discovery of new genetic variants may help to explain why some people develop these skin cancers, while others who may have similar features, such as pale skin or freckles, do not.

Identification of genetic markers could also explain why some people with darker skin types still get BCCs and SCCs.

Currently there are no genetic tests for skin cancer, but if we can get a clearer understanding of which genes are responsible and where on the DNA these genes are located, we can start working on finding better treatments 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 re-purpose drugs that have already been approved for some conditions or that are under clinical trial, to speed up treatment options.


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Read more recent research.

Source: Press release. (2019.) QIMR Berghofer. Retrieved from www.qimrberghofer.edu.au/2019/08/australian-researchers-find-45-new-genetic-causes-of-non-melanoma-skin-cancers

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