Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants

CONCLUSIONS: Incorporation of minigene read-outs into an ACMG/AMP (American College of Medical Genetics and Genomics/Association for Molecular Pathology)-based classification scheme allowed us to classify 32 CHEK2 variants (27 pathogenic/likely pathogenic and 5 likely benign). However, 20 variants (38%) remained of uncertain significance, reflecting in part the complex splicing patterns of this gene.PMID:37725924 | DOI:10.1093/clinchem/hvad125

Source: Clinical Breast Cancer - September 19, 2023 Category: Cancer & Oncology Authors: Lara Sanoguera-Miralles Alberto Valenzuela-Palomo Elena Bueno-Mart ínez Ada Esteban-S ánchez V íctor Lorca In és Llinares-Burguet Alicia Garc ía-Álvarez Pedro P érez-Segura Mar Infante Douglas F Easton Peter Devilee Maaike P G Vreeswijk Miguel de l Source Type: research