Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.

ABSTRACT:

Background

Acral and mucosal melanomas are aggressive subtypes of melanoma, which have a significantly lower burden of somatic mutations than cutaneous melanomas, but more frequent copy number variations, focused gene amplifications, and structural alterations. The landscapes of their genomic alterations remain to be fully characterized.

Methods

We compiled sequencing data of 240 human acral and mucosal melanoma samples from 11 previously published studies and applied a uniform pipeline to call tumor cell content, ploidy, somatic and germline mutations, as well as CNVs, LOH, and SVs. We identified genes that are significantly mutated or recurrently affected by CNVs and implicated in oncogenesis. We further examined the difference in the frequency of recurrent pathogenic alte

SUBMITTER: Wang M 

PROVIDER: S-EPMC9202124 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature