Germline mutations in WNK2 could be associated with serrated polyposis syndrome

Conclusion
After whole-exome sequencing in SPS cases with familial aggregation and replication of results in additional cohorts, we identified rare germline variants in the WNK2 gene. Functional studies suggested germline WNK2 variants affect protein function in the context of the MAPK pathway, a molecular hallmark in this disease.

Source: Journal of Medical Genetics - May 22, 2023 Category: Genetics & Stem Cells Authors: Soares de Lima, Y., Arnau-Collell, C., Munoz, J., Herrera-Pariente, C., Moreira, L., Ocana, T., Diaz-Gay, M., Franch-Exposito, S., Cuatrecasas, M., Carballal, S., Lopez-Novo, A., Moreno, L., Fernandez, G., Diaz de Bustamante, A., Peters, S., Sommer, A. K. Tags: Open access Cancer genetics Source Type: research