Publications by authors named "O Kutz"
Article Synopsis
- Whole Exome Sequencing (WES) is a powerful tool in cancer diagnostics that allows for comprehensive analysis of genes, improving the detection of complex biomarkers compared to traditional panel-based methods.
- A study analyzing tissue specimens across 21 NGS centers showed that, although there was a 76% agreement in somatic variant calling, refining filtering criteria improved this to 88%, highlighting the importance of filter settings in variant detection.
- The reliability of detecting specific genomic changes (like CNAs and complex biomarkers) varied among labs, emphasizing the need for improved bioinformatics processes and collaborative testing to minimize discrepancies in future analyses.
Considering polygenic risk scores (PRSs) in individual risk prediction is increasingly implemented in genetic testing for hereditary breast cancer (BC) based on next-generation sequencing (NGS). To calculate individual BC risks, the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) with the inclusion of the BCAC 313 or the BRIDGES 306 BC PRS is commonly used. The PRS calculation depends on accurately reproducing the variant allele frequencies (AFs) and, consequently, the distribution of PRS values anticipated by the algorithm.
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- The study examined how changes in circulating tumor DNA (ctDNA) over time reflect the evolutionary patterns of ovarian cancer.
- Targeted sequencing was used to analyze both primary tumor biopsies and ctDNA from 15 patients to identify common mutations, primarily focusing on TP53 variants.
- The findings revealed two distinct evolutionary patterns in tumor response to therapy, which can help identify critical tumor clones for more effective targeted treatments.
Overcoming PARPi resistance is a high clinical priority. We established and characterized comparative in vitro models of acquired PARPi resistance, derived from either a -proficient or -deficient isogenic background by long-term exposure to olaparib. While parental cell lines already exhibited a certain level of intrinsic activity of multidrug resistance (MDR) proteins, resulting PARPi-resistant cells from both models further converted toward MDR.
View Article and Find Full Text PDFBackground: Germline variant evaluation in precision oncology opens new paths toward the identification of patients with genetic tumor risk syndromes and the exploration of therapeutic relevance. Here, we present the results of germline variant analysis and their clinical implications in a precision oncology study for patients with predominantly rare cancers.
Patients And Methods: Matched tumor and control genome/exome and RNA sequencing was carried out for 1485 patients with rare cancers (79%) and/or young adults (77% younger than 51 years) in the National Center for Tumor Diseases/German Cancer Consortium (NCT/DKTK) Molecularly Aided Stratification for Tumor Eradication Research (MASTER) trial, a German multicenter, prospective, observational precision oncology study.