Publications by authors named "K Olivier"
Circulating tumor DNA (ctDNA) is emerging as a transformative biomarker in the management of non-small cell lung cancer (NSCLC). This review focuses on its role in detecting minimal residual disease (MRD), predicting treatment response, and guiding therapeutic decision-making in radiation oncology and immunotherapy. Key studies demonstrate ctDNA's prognostic value, particularly in identifying relapse risk and refining patient stratification for curative-intent and consolidative treatments.
View Article and Find Full Text PDFVariation in the non-coding genome represents an understudied mechanism of disease and it remains challenging to predict if single nucleotide variants, small insertions and deletions, or structural variants in non-coding genomic regions will be detrimental. Our approach using complementary RNA-seq and targeted long-read DNA sequencing can prioritize identification of non-coding variants that lead to disease via alteration of gene splicing or expression. We have identified a patient with primary ciliary dyskinesia with a pathogenic coding variant on one allele of the SPAG1 gene, while the second allele appears normal by whole exome sequencing despite an autosomal recessive inheritance pattern.
View Article and Find Full Text PDFArticle Synopsis
- Researchers studied mutations in a gene that affects a key protein involved in cell signaling, which is linked to severe health issues like impaired immunity in patients.
- The mutations were found to disrupt normal cell behavior by promoting excessive cell growth and responses to immune signals, specifically T cell receptor stimulation.
- The mutant protein was shown to interfere with a regulatory protein, leading to heightened activity of important signaling pathways that contribute to cell growth and survival.
Article Synopsis
- Hyper IgE syndrome (STAT3-HIES), also known as Job's syndrome, results from mutations in the STAT3 gene, leading to chronic respiratory infections due to compromised pulmonary defense mechanisms.
- The study aimed to investigate how these STAT3 mutations affect the airway epithelium's ability to defend against infections, analyzing sputum properties and lung tissue from patients.
- Findings revealed that STAT3 deficiency disrupts critical airway functions, including mucus secretion and ciliary movement, contributing to increased infection risk and inflammation in patients with this syndrome.*
Context: Patients with advanced cancer are at increased risk for multiple hospitalizations and often have considerable needs postdischarge. Interventions to address patients' needs after transitioning home are lacking.
Objectives: We sought to demonstrate the feasibility and acceptability of a postdischarge intervention for this population.