K. Zelinová, M. Jagelková, Z. Laučeková, M. Grendár, K. Dókuš
The breast cancer is the most commonly diagnosed cancer in the world and is the leading
cause of cancer deaths among women. Genomic sequencing provides the opportunity
for a deeper understanding of the cancer biology and allows the identification
of tumour-specific genomic changes that have potential to be used in the diagnosis
and therapy of malignancies. The sequential examination of free circulating tumour
DNA (ctDNA) provides comprehensive information on genetic changes in a primary
tumour, its metastases, and can identify new mutations that originate during oncological
treatment. We detected somatic gene mutations with a pathogenic effect in
patients with breast cancer, with the TP53 and FBXW7 being the most frequently affected
genes. In most cases, these changes were single nucleotide substitutions with
a missense mutation effect.