APOBEC-Linked Mutational Signatures Drive Skin Cancer in Recessive Dystrophic Epidermolysis Bullosa

NEW YORK (GenomeWeb) – Mutational signatures linked to the APOBEC family drive the development of early-onset squamous cell carcinomas of the skin among individuals with a rare genetic disorder condition.

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic disorder caused by COL7A1 mutations that leads to skin fragility, tissue damage, and inflammation. Wounds that people with the condition develop don’t heal well, which causes scarring and fibrosis, and the condition is linked to an increased risk of early-onset, highly malignant squamous cell carcinoma (SCC) with a five-year survival rate near zero.

An international team of researchers conducted a molecular analysis of 27 RDEB SCC tumors to tease out mutational signatures from within the tumors. As they reported today in Science Translational Medicine, the researchers found that apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like (APOBEC) mutational signatures dominate RDEB SCC tumors and could represent a means of preventing tumor development.

“Our findings reveal a cause for cancers arising at sites of persistent inflammation and identify potential therapeutic avenues to treat RDEB SCC,” senior author Andrew South from Thomas Jefferson University and his colleagues wrote in their paper.

The researchers sequenced the exomes of 27 different SCC tumors from 26 RDEB patients

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