Somatic structural variants drive distinct modes of oncogenesis in melanoma
JR Conway, R Gillani, J Crowdis, B Reardon… - The Journal of Clinical …, 2024 - jci.org
The diversity of structural variants (SVs) in melanoma and how they impact oncogenesis are
incompletely known. We performed harmonized analysis of SVs across melanoma histologic
and genomic subtypes, and we identified distinct global properties between subtypes. These
included the frequency and size of SVs and SV classes, their relation to chromothripsis
events, and the impact on cancer-related genes of SVs that alter topologically associated
domain (TAD) boundaries. Following our prior identification of double-stranded break repair …
incompletely known. We performed harmonized analysis of SVs across melanoma histologic
and genomic subtypes, and we identified distinct global properties between subtypes. These
included the frequency and size of SVs and SV classes, their relation to chromothripsis
events, and the impact on cancer-related genes of SVs that alter topologically associated
domain (TAD) boundaries. Following our prior identification of double-stranded break repair …
[引用][C] Somatic structural variants drive distinct modes of oncogenesis in melanoma
M Benamar, R Haq, EM Van Allen - 2024 - europepmc.org
Cutaneous melanoma is among the most highly mutated cancers because of the impact of
UV mutagenesis, which leads to many C> T transitions across the genome (1, 2). For this
reason, molecular analyses of melanoma are often focused on somatic mutations, and
increasingly so given the association of tumor mutational burden with response to
immunotherapy (3–6). Somatic structural variant (SV) analyses of cutaneous melanoma
whole genomes have been performed (2, 7), with emphasis on the counts and frequency of …
UV mutagenesis, which leads to many C> T transitions across the genome (1, 2). For this
reason, molecular analyses of melanoma are often focused on somatic mutations, and
increasingly so given the association of tumor mutational burden with response to
immunotherapy (3–6). Somatic structural variant (SV) analyses of cutaneous melanoma
whole genomes have been performed (2, 7), with emphasis on the counts and frequency of …
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