Article

Large distant deletion disrupts CDKN2A enhancer and predisposes to melanoma

2026-05-18

Abstract excerpt

Deleterious CDKN2A germline variants account for ∼40% of familial melanoma cases, while rare variants in CDK4 , BAP1 , and telomere-maintenance genes collectively attribute ∼10% of familial risk. We sought to identify new high-penetrance susceptibility variants by sequencing 305 melanoma cases from 89 multi-case families negative for known predisposition gene variants. In one family, cutaneous melanoma co-segre...

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Literature Corpus work: de33d373-0ff9-5afa-b764-ca0fecb96e2a
DOI: 10.64898/2026.05.07.26352537

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