Publications by authors named "Susan Vermeulen"
Somatic 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).
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- 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.
Breast cancer treatment depends on human epidermal growth factor receptor-2 (HER2) status, which is often determined using dual probe fluorescence in situ hybridisation (FISH). Hereby, also loss and gain of the centromere of chromosome 17 (CEP17) can be observed (HER2 is located on chromosome 17). CEP17 gain can lead to difficulty in interpretation of HER2 status, since this might represent true polysomy.
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