Ethan S. Sokol

The paper identifies increased GPCR pathway activity in breast cancer ovarian metastases and links it to migration and F-actin reorganization through CaSR.

The paper identifies synthetic lethality between POLE exonuclease deficiency and high aneuploidy in cancer cells, suggesting POLE inhibition as a therapeutic strategy for aneuploid tumors.

The paper identifies reversion mutations in homologous recombination genes across cancers, showing they restore DNA repair and confer PARP inhibitor resistance through specific structural alterations.

The paper develops machine learning models to predict pathogenicity of BRCA1 and BRCA2 variants using cancer genomic profiles, improving classification of variants of uncertain significance.

The paper investigates functional differences between EML4-ALK variants V1 and V3 in lung cancer using mouse models and human data, showing variant-specific effects on tumorigenesis.

This paper reports the genomic profile of lymphatic malformations, identifies PIK3CA and NRAS mutations, and shows a response to the PI3K inhibitor alpelisib in a personalized trial.