Publications

Background Identifying structural rearrangements and gene fusions is critical to providing high quality, precision-driven clinical care for many types of pediatric cancers. RNA next-generation sequencing (NGS) provides a functional readout of the genome that enables superior detection of chimeric transcripts and novel driver fusions, particularly when genomic breakpoints reside in complex intronic regions. This study … Continued

Background While advancements in early-stage breast cancer (ESBC) treatment have improved survival, disease recurrence and therapeutic resistance remain significant challenges. Current biomarkers guide initial treatment, yet novel diagnostics are required to improve risk stratification and recurrence prediction. Circulating tumor DNA (ctDNA) offers a non-invasive method for detecting minimal residual disease (MRD), potentially enabling the identification … Continued

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Background CHK2 is a DNA damage response (DDR) protein critical for maintaining genomic stability. Germline CHEK2 variants occur at 1-2% in the general population and confer elevated risk for multiple cancers. Loss-of-function mutations in DDR genes can sensitize tumors to immunotherapy through effects on tumor immunogenicity and immune signaling. We examined the relationship between germline … Continued

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Background ESR1 mutations (ESR1m) are known drivers of resistance to aromatase inhibitors. While ESR1m has been linked to worse survival outcomes, clonal complexity over time has not been well-evaluated in a real-world context. Here we characterized longitudinal dynamics of ESR1m, including rare point mutation emergence and polyclonality in hormone receptor- positive/HER2-negative metastatic breast cancer (HR+/HER2- … Continued

Background TCRC is a nonprofit oncology community practice serving patients in Northwestern Ohio. TCRC’s partnership with the Tempus AI TIME program leverages proprietary software and nursing teams to support patient matching across a portfolio of industry-sponsored clinical trials. Trials may be rapidly opened “prospectively” before an eligible patient is identified, or “just-in-time” (JIT) once a … Continued

Background The prognostic value of FGFR3 pathway activation in patients with muscle- invasive bladder cancer (MIBC) treated with neoadjuvant chemotherapy (NAC) has not been established. Activation of FGFR3 signaling drives a subset of urothelial bladder cancers and classically results from pathogenic gene mutations (mut) or fusions (fus). Additionally, an RNA signature (FGFR-PRS) representing activation of … Continued

Background Activating ERBB2 mutations (mut) are associated with improved pathologic response (pCR) to neoadjuvant chemotherapy (NAC) in patients with muscle-invasive bladder cancer (MIBC). However, the impact of ERBB2 gene amplification (amp) on pCR and of aggregate ERBB2 gene variants (amp and mut) on relapse and survival is unknown. We previously reported that high tumor mutational … Continued