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Disruption of CTCF binding by germline non-coding variants in <i>CDKN2B</i> suppress <i>CDKN2A</i> expression and predispose to melanoma

2026-06-02

Abstract excerpt

Some melanoma-prone families linked to the 9p21 locus, harboring the established susceptibility gene CDKN2A , lack pathogenic protein-coding variants. Using whole-exome and targeted sequencing, we identified three rare single-nucleotide variants in two melanoma-prone families and one sporadic melanoma case. Variants map to a conserved CTCF-bound region within the first intron of CDKN2B that physically interacts...

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Literature Corpus work
197a69d9-ec7d-5956-a4c1-0d051669f7aa
DOI
10.64898/2026.06.01.26352322
Open publication

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Disruption of CTCF binding by germline non-coding variants in <i>CDKN2B</i> suppress <i>CDKN2A</i> expression and predispose to melanomaDOI 10.64898/2026.06.01.26352322
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