Colleagues at GHC Genetics have been involved in important scientific work

The aim of the newly published study was to analyse a germline pathogenic variant of the CHEK2 gene that confers an increased risk of breast cancer (BC) in women. In this study, we describe the recurrent germline variant c.1009-118_1009-87delinsC, which was found in 21/10,204 (0.21%) Czech BC patients compared to 1/3,250 (0.03%) controls and 4/3,639 (0.11%) BC patients from an independent German dataset. In addition, we found this variant in 5/2,966 (0.17%) Czech (but none of the 443 German) patients with ovarian cancer, three of whom developed early cancer. Based on these observations, this variant was classified as probably pathogenic.

Colleagues from GHC Genetics have been actively involved in the project CZECANCA by sequencing samples and supplementing clinical data.

The full study can be downloaded in the appendix.