Publications by authors named "M Speevak"
Introduction: Neurotrophic tyrosine receptor kinase (NTRK) gene fusions occur in ~ 0.3% of all solid tumours but are enriched in some rare tumour types. Tropomyosin receptor kinase (TRK) inhibitors larotrectinib and entrectinib are approved as tumour-agnostic therapies for solid tumours harbouring NTRK fusions.
View Article and Find Full Text PDFMicroduplication of the LCR22-A to LCR22-D region on chromosome 22q11.2 is a recurrent copy number variant found in clinical populations undergoing chromosomal microarray, and at lower frequency in controls. Often inherited, there is limited data on intellectual (IQ) and psychological functioning, particularly in those individuals ascertained through a family member rather than because of neurodevelopmental disorders.
View Article and Find Full Text PDFIntroduction: Genotyping circulating tumor DNA (ctDNA) is a promising noninvasive clinical tool to identify the T790M resistance mutation in patients with advanced NSCLC with resistance to EGFR inhibitors. To facilitate standardization and clinical adoption of ctDNA testing across Canada, we developed a 2-phase multicenter study to standardize T790M mutation detection using plasma ctDNA testing.
Methods: In phase 1, commercial reference standards were distributed to participating clinical laboratories, to use their existing platforms for mutation detection.
Article Synopsis
- The study focused on resolving conflicting interpretations of genetic variants among Canadian clinical laboratories through the Canadian Open Genetics Repository (COGR).
- Using the Franklin Genoox platform, laboratories could upload their variant classifications and received reports highlighting discrepancies for reassessment.
- The results showed a significant reduction in discordant variants after reassessment, supporting the effectiveness of COGR in promoting standardized interpretations and enhancing the quality of genetic testing in clinical practices.
Article Synopsis
- The study evaluates the effectiveness of four diagnostic protocols for detecting alpha-1-antitrypsin deficiency across different Canadian laboratories from 2011 to 2018.
- Among the protocols, ON-CD had the highest detection rate for pathogenic variants, but also reported more undefined molecular variants and likely benign variants compared to the others.
- The research concludes that comprehensive detection strategies covering the entire SERPINA1 coding sequence are better at identifying both pathogenic and non-pathogenic variants.