Categoría: The Journal of Molecular Diagnostics
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Characterization of Large Genomic Rearrangements in BRCA1 and BRCA2 Genes in a Chinese High-Risk Cohort
Large genomic rearrangements (LGRs) account for at least 10% of the mutations in BRCA1 and 5% of BRCA2 mutations in outbred families with hereditary breast and ovarian cancer. A total of 21 probands with breast cancer who carried BRCA1 or BRCA2 LGRs we…
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Viral load preemptive monitoring in the post-transplant immunocompromised population
Cytomegalovirus (CMV), Epstein-Barr virus (EBV), BK virus, and adenovirus cause significant morbidity and mortality in immunocompromised individuals, especially in those undergoing solid organ and hematopoietic stem cell transplant. Quantitative viral …
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New Updates and Guidelines in T Cell Nomenclature Relevant to Molecular Pathology
Has the rapid evolution of immune profiling outpaced our current T cell nomenclature? Advances in immunologic and cellular profiling methods, particularly high-dimensional flow cytometry, single-cell RNA sequencing, and spatial profiling, have been cri…
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Technical validation and prospective clinical utility of optical genome mapping in acute leukemia workup: insights from 200 cases following deployment as a first-line diagnostic test in a tertiary care center
In November 2023, our Canadian tertiary care facility implemented optical genome mapping (OGM) as a first-line diagnostic test for adults with newly diagnosed acute leukemias. Here we report on the analytical performance and clinical utility of OGM alo…
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Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies
Inherited retinal dystrophies (IRDs) represent a diverse group of rare pathologies affecting vision with significant genetic and clinical variability. Clinical exome sequencing (CES) was performed on 143 families clinically diagnosed with IRDs. The obt…
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Phenotypic POLE variant classification identifies patients who may have favorable prognosis and benefit from immunotherapy
Pathogenic POLE mutations (pPOLE) undermine mismatch error correction by POLε during DNA replication and resulting somatic ultramutation predicts response to immunotherapy. Beyond frequently recurrent alleles, historical pPOLE classification has been l…
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Validation of the SOPHiA DDM HRD Solution as a Companion Diagnostic for PARPi Access in Australia
In this multi-laboratory validation study of 145 ovarian cancer samples, the SOPHiA DDM HRD Solution was compared with the regulatory-approved Myriad myChoice HRD assay to assess clinical comparability for Class 3 in-house in vitro diagnostic medical d…
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Allele, Diplotype and Phenotype Frequency Distribution of CYP2B6, CYP2C19 and CYP2D6 in Han Population in North China
This large-scale retrospective study investigated the allele, diplotype, and phenotype frequencies of CYP2B6, CYP2C19, and CYP2D6 in a Han Chinese population (N>10,000), using real-world genetic data from the First Hospital of Hebei Medical University,…