Yuhki Koga

Comprehensive genomic analysis of five kindreds with multiple childhood leukemias: importance of individual functional analysis for rare ETV6 germline variants

Findings indicate that p.Arg202Gly behaves as WT-like in the assays performed and do not support a loss-of-function effect, emphasizing the importance of variant-level functional assessment for rare ETV6 variants to inform clinical interpretation and avoid overestimation of pathogenicity.