Institute of biochemistry and experimental oncology, First faculty of medicine, Charles university in Prague
breast cancer susceptibility (analysis of major predisposing genes, low penetrant genes and gene modifyers) in familial and sporadic breast cancer populationsanalysis of defects in DNA repair in mammary tumorigenesis (role of BRCA1 splicing variants in DSB repair kinetics)breast cancer pathogenesis (identification of somatic alterations in breast cancer lesions)
Genotyping: HRM, dHPLC, PTT, MLPA, sequencing, fragment analysis.In vitro studies: Stable transfections, RNAi, qPCR, FL microscopy, WBEx vivo studies: arrays (Phalanx), ms-MLPA, genotyping
genetic material from >500 high-risk families (HBC, HBOC, HOC), >500 sporadic BC patients, non cancer controls. Stable breast cancer cell lines (MCF-7, HCC1936, MBA-MB231, EM-G3 (derived from early progenitors)).Primary MEC from BRCA1 mtation carriers and controls.