Article
Spectrum and frequency of CHEK2 variants in breast cancer affected and general population in the Baltic states region, initial results and literature review.
European journal of medical genetics - 1 May 2022
Pavlovica Kristine, Irmejs Arvids, Noukas Margit, Palover Marili, Kals Mart, Tonisson Neeme, Metspalu Andres, Gronwald Jacek, Lubinski Jan, Murmane Daiga, Kalnina Agnese, Loza Peteris, Maksimenko Jelena, Trofimovics Genadijs, Subatniece Signe, Daneberga Zanda, Miklasevics Edvins, Gardovskis Janis
Abstract excerpt
BACKGROUND: While BRCA1/2 gene mutational spectrum and clinical features are widely studied, there is limited data on breast cancer-predisposing non-BRCA pathogenic/likely pathogenic variants (PV/LPVs) in the Baltic states region. 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...
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