Erica K. Schnettler

NTRK fusions and concomitant immune and genomic landscape detected by DNA and RNA comprehensive genomic profiling in a large healthcare system

Alexa K. Dowdell, Thomas Ward, Lauren Hamilton, Roshanthi K. Weerasinghe et autres

Introduction The use of next-generation sequencing (NGS) in clinical investigations has enabled the identification of actionable biomarkers across tumor histologies, paving the way for the development of pan-tumor therapies. Gene fusions involving NTRK1, NTRK2 , and NTRK3 (NTRK1/2/3) have emerged as rare …

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RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting

Zachary D. Wallen, Marni Brisson Tierno, Erica K. Schnettler, Alison Roos et autres

Introduction NTRK1, NTRK2, and NTRK3 gene fusions are rare oncogenic driver alterations found in diverse tumor types of adults and children. They are clinically important biomarkers as tumors harboring these genomic alterations have high response rates to targeted therapy. Routine testing for …

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Genomic profiling of NSCLC tumors with the TruSight oncology 500 assay provides broad coverage of clinically actionable genomic alterations and detection of known and novel associations between genomic alterations, TMB, and PD-L1

Zachary D. Wallen, Mary Nesline, Marni Brisson Tierno, Alison Roos et autres

Introduction Matching patients to an effective targeted therapy or immunotherapy is a challenge for advanced and metastatic non-small cell lung cancer (NSCLC), especially when relying on assays that test one marker at a time. Unlike traditional single marker tests, comprehensive genomic profiling …

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Real-world BRCA1/2 and homologous recombination deficiency testing dynamics and time to treatment discontinuation on PARP inhibitor first-line maintenance among patients with epithelial ovarian cancer

Rebecca A. Previs, Alison Roos, Anupama Vasudevan, Simon Blanc et autres

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Performance of comprehensive genomic profiling (CGP) versus single gene testing (SGT) in guideline-recommended biomarker selection in non-small cell lung cancer (NSCLC).

Vivek Subbiah, Anupama Vasudevan, Alison Roos, Erica K. Schnettler et autres

8640 Background: Professional NSCLC guidelines recommend broad molecular profiling with the goal of identifying actionable oncogenic drivers (AODs) for which targeted therapies are either approved or under investigation in clinical trials. Even though the rates of molecular testing have increased, the use …

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Increased expression of collagen prolyl hydroxylases in ovarian cancer is associated with cancer growth and metastasis.

Mihae Song, Erica K. Schnettler, Annapoorna Venkatachalam, Yujun Wang et autres

. A2780 cells stably transfected with shP4HA1 and shP4HA2 inhibited tumor growth and metastases in athymic mice. Furthermore, our review of the TCGA dataset revealed that increased P4HA1 and P4HA2 mRNA levels are associated with decreased overall survival in patients with ovarian …

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Identification of potential germline (GL) variants by routine clinical comprehensive genomic profiling (CGP) and confirmatory GL testing in 24 tumor types.

Kristen Hanson, Michael P. Mullane, Erica K. Schnettler, Dean C. Pavlick et autres

10596 Background: Tumor CGP may identify both somatic and GL variants, though confirmatory testing is required to verify which variants originate from the GL. Studies have shown CGP can identify patients who both do and do not meet criteria for genetic counseling …

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PARC report: A Perspective on the state of Clinical Pharmacogenomics Testing

Jennifer N. Eichmeyer, Sara L. Rogers, Christine M. Formea, Jyothsna Giri et autres

In this Perspective, the authors discuss the state of pharmacogenomics testing addressing a number of advances, challenges and barriers, including legal ramifications, changes to the regulatory landscape, coverage of testing and the implications of direct-to-consumer genetic testing on the provision of care …

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Pharmacogenomics-guided chemotherapy and supportive care for patients with metastatic colorectal cancer.

Pashtoon Murtaza Kasi, Tyler Koep, Candice Baldeo, Erica K. Schnettler et autres

703 Background: In metastatic colorectal cancer (CRC), pharmacogenomics (PGx) testing presents a unique opportunity to improve outcomes since the genes DPYD & UGT1A1 encoding the enzymes metabolizing the chemotherapy drugs, 5-fluorouracil and irinotecan, are already well known. In the TRIBE clinical trial, …

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Feasibility of Integrating Panel-Based Pharmacogenomics Testing for Chemotherapy and Supportive Care in Patients With Colorectal Cancer

Pashtoon Murtaza Kasi, Tyler Koep, Erica K. Schnettler, Faisal Shahjehan et autres

Introduction: Pharmacogenomics is about selecting the “right drug in the right amount for the right patient.” In metastatic colorectal cancer, germline pharmacogenomics testing presents a unique opportunity to improve outcomes, since the genes dihydropyrimidine dehydrogenase and UDP-glucuronosyltransferase metabolizing the chemotherapy drugs, 5-fluorouracil, …

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Regulation of angiogenesis by microRNAs in cardiovascular diseases

Devika Kir, Erica K. Schnettler, Shrey Modi, Sundaram Ramakrishnan

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Integrating comprehensive point of care and preemptive pharmacogenomic testing for patients with gastrointestinal malignancies.

Caren L. Hughes, Candice Baldeo, Jessica M. Rodgers, Ashton Ritter et autres

e18935 Background: Pharmacogenomic testing can have important implications for patients with gastrointestinal cancers. It may help prevent severe adverse drug reactions resulting in emergency room visits and hospital admissions. It may also help predict responses to not only chemotherapy drugs but also …

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