Elli Papaemmanuil

TL;DR: It is found mutations are selected differentially based on exposures, whereas cancer therapy with radiation, platinum and topoisomerase II inhibitors preferentially selects for mutations in DNA damage response genes (TP53, PPM1D, CHEK2).

TL;DR: Clinical sequencing across a large prospective cohort of patients with myelodysplasic syndrome uncovers distinct associations between the mono- and biallelic states of TP53 and clinical presentation.

TL;DR: Four clinical cases are described that identify mutant IDH isoform switching, either from Mutant IDH1 to mutant IDh2 or vice versa, as a mechanism of acquired clinical resistance to IDH inhibition in solid and liquid tumors.

TL;DR: In this article, the authors leverage peripheral blood sequencing data from 32,442 cancer patients to jointly characterize gene mutations and mosaic chromosomal alterations (mCAs) in clonal hematopoiesis (CH), a common state in cancer patients associated with a heightened risk of leukemia development.

TL;DR: It is shown that a multiple myeloma designed custom capture NGS panel can detect IGH translocations and CNAs with very high concordance in relation to FISH and SNP microarrays and importantly captures the most relevant and recurrent somatic mutations in multipleMyeloma rendering this approach highly suitable for clinical application in the modern era.