Characterization of somatic mutations in sporadic uveal melanoma and uveal melanoma in patients with germline BAP1 pathogenic variants.

Characterization of somatic mutations in sporadic uveal melanoma and uveal melanoma in patients with germline BAP1 pathogenic variants.

Genetic analyses were conducted on tumor samples from 88 patients with uveal melanoma (UM), 6 of whom carry pathogenic germline variants in BAP1. We assessed the frequency, pattern, and prognostic significance of somatic aberrations, and investigated differences between germline BAP1 variant carrier...

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Main Authors: Karin A W Wadt, Katja Harbst, Mette M B Sjøl, Frida Rosengren, Christina Westmose Yde, Kristoffer Staal Rohrberg, Marlene Richter Jensen, Steffen Heegaard, Jens Folke Kiilgaard, Anne-Marie Gerdes, Nicholas Hayward, Göran B Jönsson
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2024-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0306386
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https://doi.org/10.1371/journal.pone.0306386

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