Article

XPC loss-of-function triggers melanomagenesis through <i>CDKN2A</i> downregulation

2025-04-06

Abstract excerpt

<h4>ABSTRACT</h4> We identified a novel XPC variant, c.2420+5G>A (XPCvar), in siblings with multiple melanomas, inherited alongside c.779+1G>T, which results in an absent or disrupted protein. However, they did not exhibit significantly higher nucleotide excision repair (NER) deficits compared to their unaffected parents, suggesting an NER-independent tumor suppressor function for XPC. XPC knockdown increased cel...

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Literature Corpus work: 0bb55c7b-8065-5df2-8bf2-3228459f9ae5
DOI: 10.1101/2025.04.03.646637

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