Activation of FGFR genes by genetic and epigenetic alterations in uterine leiomyomas.

ABSTRACT:

Background

Fibroblast growth factor 1-4 (FGFR1-4) are well-known oncogenic drivers in many cancer types. Here, we studied the role of FGFRs in uterine leiomyoma (UL) that is a benign neoplasm arising from the myometrium and the most common tumour in women. Although ULs can be classified to molecular subtypes based on genetic drivers, potential secondary drivers are not well characterised.

Methods

We performed mutation analysis of RNA-sequencing data of ULs, followed by screening of FGFR alterations in our Finnish (n = 2677) and Swedish (n = 372) UL collections, utilising Sanger-, next-generation and Nanopore sequencing and SNP array data. The role of FGFR genes in UL predisposition was examined by GWAS.

Results

We identified FGFR activation in a subset of ULs on both

SUBMITTER: Jokinen V 

PROVIDER: S-EPMC11868550 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature