Publications by authors named "Michiel Oorsprong"
Background: Individuals with germline pathogenic variants in BRCA1 or BRCA2 are at a high risk of breast and ovarian carcinomas with BRCA1/2 deficiency and homologous recombination deficiency that can be detected by analysis of genome-wide genomic instability features such as large-scale state transitions, telomeric allelic imbalances, and genomic loss of heterozygosity. Malignancies with homologous recombination deficiency are more sensitive to platinum-based therapies and poly(ADP-ribose) polymerase inhibitors. We investigated the fraction of non-breast or ovarian malignancies that have BRCA1/2 deficiency and genomic instability features.
View Article and Find Full Text PDFSomatic structural variants (SVs) are important drivers of cancer development and progression. In a diagnostic set-up, especially for hematological malignancies, the comprehensive analysis of all SVs in a given sample still requires a combination of cytogenetic techniques, including karyotyping, FISH, and CNV microarrays. We hypothesize that the combination of these classical approaches could be replaced by optical genome mapping (OGM).
View Article and Find Full Text PDFArticle Synopsis
- Chromosomal aberrations, including structural variations, are significant contributors to genetic diseases, and current detection methods like karyotyping and CNV microarrays have limitations in resolution and ability to identify certain types of anomalies.
- The study assessed optical genome mapping (OGM) on ultra-high-molecular-weight DNA from 85 samples to detect known chromosomal aberrations, achieving 100% concordance with standard tests for non-centromeric breakpoints.
- The findings suggest OGM could revolutionize genetic testing by providing a high-resolution, cost-effective approach for detecting a wide range of chromosomal aberrations, paving the way for advancements in clinical cytogenetics.