Article

A high-penetrance intergenic variant at 9p21 confers melanoma susceptibility

2026-05-12

Abstract excerpt

<title>Abstract</title> <p>Approximately 10% of cutaneous malignant melanoma cases are familial. Variants in CDKN2A account for up to 40% of melanoma-prone families, with an additional ~10% explained by other genes. Many CDKN2A mutation-negative families show linkage to chromosome-band 9p21, which harbors CDKN2A, suggesting non-coding variants may contribute to familial risk. Here, whole-genome sequencing reveale...

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Literature Corpus work: 759c86b8-d642-5a06-87cd-db2c4d696638
DOI: 10.21203/rs.3.rs-9636010/v1

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