Esko A. Kautto

TL;DR: Evidence of as-yet-unappreciated MSI in several types of cancer support an expanded role for clinical MSI testing across multiple cancer types as patients with MSI-positive tumors are predicted to benefit from novel immunotherapies in clinical trials.

TL;DR: A new MSI detection tool, MANTIS, is introduced, and its favorable performance compared to the previously published tools mSINGS and MSISensor is demonstrated, allowing its incorporation into existing NGS pipelines.

TL;DR: The Cancer Driver Log (CanDL) database as mentioned in this paper is an expert-curated database of potentially actionable driver mutations for molecular pathologists to facilitate annotation of cancer genomic testing.

TL;DR: Analytically validated a targeted RNA sequencing assay (OSU-SpARKFuse) for fusion detection that interrogates complete transcripts from 93 kinase and transcription factor genes that led to the discovery of a KLK2-FGFR2 fusion in a patient with prostate cancer who subsequently underwent treatment with a pan-fibroblast growth factor receptor inhibitor.

TL;DR: The largest effort to characterize the frequency of homologous recombination (HR) DNA repair pathway alterations in STS subtypes and highlight the unique nature of leiomyosarcoma (LMS) identifies uLMS to be enriched for BRCA2 loss and reports the positive outcomes of a series of patients treated with PARP inhibitors.