Publications by authors named "I Vermes"
Exploration of the mutational landscape of cutaneous leiomyoma confirms FH as a driver gene and identifies targeting purine metabolism as a potential therapeutic strategy.
Br J Dermatol
November 2024
Article Synopsis
- Cutaneous leiomyosarcoma (cLMS) is a rare skin tumor with smooth muscle differentiation, showing key genetic mutations in TP53 and RB1, along with copy number changes in other genes like MYCOD and IGF1R.
- This study aimed to thoroughly investigate the genetics of cLMS by analyzing a larger sample size (38 cases) using whole-exome and RNA sequencing, revealing significant recurrent mutations and potential environmental factors like UV exposure.
- Findings indicated critical genetic alterations, including various deletions and amplifications, highlighting the complexity of cLMS and emphasizing the need for extensive genetic analysis in rare tumors for better understanding and potential treatment options.
Motivation: Analysis of mutational signatures is a powerful approach for understanding the mutagenic processes that have shaped the evolution of a cancer genome. To evaluate the mutational signatures operative in a cancer genome, one first needs to quantify their activities by estimating the number of mutations imprinted by each signature.
Results: Here we present SigProfilerAssignment, a desktop and an online computational framework for assigning all types of mutational signatures to individual samples.
The somatic mutations found in a cancer genome are imprinted by different mutational processes. Each process exhibits a characteristic mutational signature, which can be affected by the genome architecture. However, the interplay between mutational signatures and topographical genomic features has not been extensively explored.
View Article and Find Full Text PDF