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Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.

Pigment cell & melanoma research - 1 Sept 2025

Repo Pauliina E, Jakkula Eveliina, Hiltunen Juho, Putkuri Heidi, Staskiewicz-Tuikkanen Aleksandra, Järvinen Reetta-Stiina, Täll Martin, Raivio Virpi, Al-Jamal Rana'a T, Kivelä Tero T, Turunen Joni A

Abstract excerpt

Some patients with uveal melanoma (UM) show genetic cancer predisposition: ~2% harbor a pathogenic or likely pathogenic (P/LP) germline variant in BAP1 or, rarely, in 20 other cancer-associated genes. Up to 75% of patients with familial UM (FUM) lack genetic diagnosis, prompting a search beyond BAP1. We studied with exome sequencing blood samples from 106 patients with UM and higher-than-average risk of cancer...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40956002
DOI: 10.1111/pcmr.70041
PMCID: PMC12334930

Genes

BAP1
CHEK2
FANCM
DDX41
HOXB13
RAD50
SDHA
SDHB

Provenance

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