Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines

Conclusions
The development and evolution of CDH1-specific criteria by the expert panel resulted in decreased uncertain and conflicting interpretations of variants in this clinically actionable gene, which can ultimately lead to more effective clinical management recommendations.

Source: Journal of Medical Genetics - May 22, 2023 Category: Genetics & Stem Cells Authors: Luo, X., Maciaszek, J. L., Thompson, B. A., Leong, H. S., Dixon, K., Sousa, S., Anderson, M., Roberts, M. E., Lee, K., Spurdle, A. B., Mensenkamp, A. R., Brannan, T., Pardo, C., Zhang, L., Pesaran, T., Wei, S., Fasaye, G.-A., Kesserwan, C., Shirts, B. H., Tags: Cancer genetics Source Type: research