Description
While BRCA1/2 gene mutational spectrum and clinical features are widely studied, there is limited data on breast cancer-predisposing non-BRCApathogenic/likely pathogenic variants (PV/LPVs) in Latvia. According to previous studies, CHEK2 is the most frequent moderate-risk breast cancer predisposition gene. The study aimed to analyse the frequency and mutational spectrum of CHEK2 PV/LPVs in Latvia and perform a literature review on the subject data in neighbouring countries.. CHEK2, BRCA1, BRCA2, PALB2 testing with next-generation sequencing (NGS) was carried out in 105 selected breast cancer cases.. In breast cancer affected cohort from Latvia 6 CHEK2 variants classified as PV/LPVs were observed (6/105; 5,7%), including recurrent ones c.470T>C (1.9%) and del5395(ex9-10del) (1.9%), as well as single ones – c.1100delC (1%) and c.444+1G>A (1%). For the literature review altogether, 49 PubMed articles were found, 23 of which were relevant, representing CHEK2 PV/LPVs in the population of interest. Ten publications are from Poland, eight from Russia, three from Latvia and two from Belarus.. This study is the first report on complete CHEK2 PV/LPVs screening in selected breast cancer affected cases in Latvia. The initial results are in line with other studies that CHEK2 PV/LPVs frequency is around 5 to 6% of selected breast cancer cases. This is also the first report on c.1100delC and c.444+1G>A pathogenic variants from the Baltic States. High 8,6% population frequency of c.470T>C continues to question the variant's pathogenicity in particular populations. Other findings are concordant with previous reports from Latvia and neighbouring populations.
| Period | 29 Mar 2023 → 31 Mar 2023 |
|---|---|
| Event title | RSU International Research Conference 2023: Knowledge for Use in Practice |
| Event type | Conference |
| Organiser | Rīga Stradiņš University |
| Location | Riga, LatviaShow on map |
| Degree of Recognition | International |