Article
Copy number variants in BRCA1 and BRCA2 genes in Polish patients with breast and ovarian cancer.
Journal of cancer research and clinical oncology - 23 Jun 2026
Doraczynska-Kowalik Anna, Matkowski Rafal, Michalowska Dagmara, Chrusciel Agnieszka, Semeniuk Mariola, Blomka Dorota, Lawicka Paulina, Czykalko Ewelina, Abrahamowska Mariola, Pietron Aleksandra, Janus-Szymanska Gabriela, Pawlak Ireneusz, Maciejczyk Adam, Szelachowska Jolanta, Laczmanska Izabela
Abstract excerpt
PURPOSE: BRCA1 and BRCA2 are key susceptibility genes in hereditary breast and ovarian cancer (HBOC), with mutational status guiding PARP inhibitor therapy. While single-nucleotide variants (SNVs) predominate, the prevalence of copy number variants (CNVs) varies significantly across different populations. This study aims to determine the incidence of BRCA1/2 CNVs in the Polish population, where data remain scarce...
Read the complete abstract on PubMedTopics
- Humans
- Female
- Poland
- Middle Aged
- Ovarian Neoplasms
