Publications by authors named "M K McConechy"
Objectives: We have previously shown that DNA based, single test molecular classification by next generation sequencing (NGS) (Proactive Molecular risk classifier for Endometrial cancer (ProMisE) NGS) is highly concordant with the original ProMisE classifier and maintains prognostic value in endometrial cancer. Our aim was to validate ProMisE NGS in an independent cohort and assess the performance of ProMisE NGS in real world clinical practice to address if there were any practical challenges or learning points for implementation.
Methods: We evaluated DNA extracted from an external research cohort of 211 endometrial cancer cases diagnosed in 2016 from Germany, Switzerland, and Austria, across seven European centers, comparing standard molecular classification (NGS for status, immunohistochemistry for mismatch repair and p53) with ProMisE NGS (NGS for and microsatellite instability assay) for concordance metrics and Kaplan-Meier survival statistics across molecular subtypes.
Article Synopsis
- The Long-Read Personalized OncoGenomics (POG) dataset features 189 patient tumors and 41 matched normal samples, sequenced with Oxford Nanopore Technologies, providing a comprehensive resource for cancer research.
- It highlights the advantages of long-read sequencing in identifying complex structural variants, viral integrations, and specific DNA behaviors, such as prominent methylation patterns associated with various cancers.
- The findings underscore the potential of this dataset in precision medicine, serving as a tool for advancing analytical techniques in cancer genomics.
Appropriate management requires timely and accurate confirmation of non-small cell lung cancer (NSCLC) recurrence in patients who have had curative-intent surgical resection. We assessed the association between circulating tumor DNA (ctDNA) identified using amplicon sequencing and evidence of recurrence on CT surveillance. A prospective cohort study of NSCLC patients with early-stage disease undergoing curative-intent resection was conducted.
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- The study examines the clinical significance of detecting cell-free circulating tumor DNA (ctDNA) mutations in patients with endometrial and ovarian cancers, identifying its potential as a real-time biomarker for therapy response and recurrence.
- Out of 44 patients, somatic mutations were found in tumor tissue for 91%, with only 27% having detectable preoperative ctDNA mutations, which correlated with advanced cancer stages and potential for disease recurrence.
- The findings suggest that ctDNA can indicate tumor volume and treatment effectiveness, and its clearance may indicate treatment success before traditional biomarkers, highlighting the need for targeted patient selection in future therapies.
Objectives: Despite recommendations for integrating molecular classification of endometrial cancers (EC) into pathology reporting and clinical management, uptake is inconsistent. To assign ProMisE subtype, all molecular components must be available (POLE mutation status, mismatch repair (MMR) and p53 immunohistochemistry (IHC)) and often these are assessed at different stages of care and/or at different centres resulting in delays in treatment. We assessed a single-test DNA-based targeted next generation sequencing (NGS) molecular classifier (ProMisE NGS), comparing concordance and prognostic value to the original ProMisE classifier.
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