Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations

Conclusion
Altogether, these data demonstrate that MSH2 function is intolerant to in-frame indels caused by the spliceogenic variants analysed in this study, supporting their pathogenic nature. This work stresses the importance of combining complementary RNA and protein approaches to ensure accurate clinical interpretation of in-frame spliceogenic variants.

Source: Journal of Medical Genetics - April 20, 2023 Category: Genetics & Stem Cells Authors: Meulemans, L., Baert Desurmont, S., Waill, M.-C., Castelain, G., Killian, A., Hauchard, J., Frebourg, T., Coulet, F., Martins, A., Muleris, M., Gaildrat, P. Tags: Cancer genetics Source Type: research