%0 Journal Article
%A Willing, Eva-Maria
%A Vollbrecht, Claudia
%A Vössing, Christine
%A Weist, Peggy
%A Schallenberg, Simon
%A Herbst, Johanna M
%A Schatz, Stefanie
%A Jóri, Balázs
%A Bataillon, Guillaume
%A Harter, Philipp
%A Salutari, Vanda
%A Martin, Antonio Gonzáles
%A Vergote, Ignace
%A Colombo, Nicoletta
%A Roeper, Julia
%A Berg, Tobias
%A Berger, Regina
%A Kah, Bettina
%A Noettrup, Trine Jakobi
%A Falk, Markus
%A Arndt, Kathrin
%A Polten, Andreas
%A Ray-Coquard, Isabelle
%A Selzam, Franziska
%A Pirngruber, Judith
%A Schmidt, Stefanie
%A Hummel, Michael
%A Tiemann, Markus
%A Horst, David
%A Sehouli, Jalid
%A Pujade-Lauraine, Eric
%A Tiemann, Katharina
%A Braicu, Elena Ioana
%A Heukamp, Lukas C
%T Development of the NOGGO GIS v1 Assay, a Comprehensive Hybrid-Capture-Based NGS Assay for Therapeutic Stratification of Homologous Repair Deficiency Driven Tumors and Clinical Validation.
%J Cancers
%V 15
%N 13
%@ 2072-6694
%C Basel
%I MDPI
%M DKFZ-2023-01442
%P 3445
%D 2023
%X The worldwide approval of the combination maintenance therapy of olaparib and bevacizumab in advanced high-grade serous ovarian cancer requires complex molecular diagnostic assays that are sufficiently robust for the routine detection of driver mutations in homologous recombination repair (HRR) genes and genomic instability (GI), employing formalin-fixed (FFPE) paraffin-embedded tumor samples without matched normal tissue. We therefore established a DNA-based hybrid capture NGS assay and an associated bioinformatic pipeline that fulfils our institution's specific needs. The assay´s target regions cover the full exonic territory of relevant cancer-related genes and HRR genes and more than 20,000 evenly distributed single nucleotide polymorphism (SNP) loci to allow for the detection of genome-wide allele specific copy number alterations (CNA). To determine GI status, we implemented an 
%K BRCA1 (Other)
%K BRCA2 (Other)
%K DNA repair (Other)
%K HRD (Other)
%K HRR (Other)
%K LOH (Other)
%K OS (Other)
%K PAOLA-1 (Other)
%K PARP inhibition (Other)
%K PARPi (Other)
%K PFS (Other)
%K breast cancer (Other)
%K diagnostics (Other)
%K genomic instability (Other)
%K homologous repair deficiency (Other)
%K molecular pathology (Other)
%K ovarian cancer (Other)
%K somatic mutation (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:37444554
%2 pmc:PMC10341077
%R 10.3390/cancers15133445
%U https://inrepo02.dkfz.de/record/277725