TY  - JOUR
AU  - Willing, Eva-Maria
AU  - Vollbrecht, Claudia
AU  - Vössing, Christine
AU  - Weist, Peggy
AU  - Schallenberg, Simon
AU  - Herbst, Johanna M
AU  - Schatz, Stefanie
AU  - Jóri, Balázs
AU  - Bataillon, Guillaume
AU  - Harter, Philipp
AU  - Salutari, Vanda
AU  - Martin, Antonio Gonzáles
AU  - Vergote, Ignace
AU  - Colombo, Nicoletta
AU  - Roeper, Julia
AU  - Berg, Tobias
AU  - Berger, Regina
AU  - Kah, Bettina
AU  - Noettrup, Trine Jakobi
AU  - Falk, Markus
AU  - Arndt, Kathrin
AU  - Polten, Andreas
AU  - Ray-Coquard, Isabelle
AU  - Selzam, Franziska
AU  - Pirngruber, Judith
AU  - Schmidt, Stefanie
AU  - Hummel, Michael
AU  - Tiemann, Markus
AU  - Horst, David
AU  - Sehouli, Jalid
AU  - Pujade-Lauraine, Eric
AU  - Tiemann, Katharina
AU  - Braicu, Elena Ioana
AU  - Heukamp, Lukas C
TI  - 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.
JO  - Cancers
VL  - 15
IS  - 13
SN  - 2072-6694
CY  - Basel
PB  - MDPI
M1  - DKFZ-2023-01442
SP  - 3445
PY  - 2023
AB  - 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 
KW  - BRCA1 (Other)
KW  - BRCA2 (Other)
KW  - DNA repair (Other)
KW  - HRD (Other)
KW  - HRR (Other)
KW  - LOH (Other)
KW  - OS (Other)
KW  - PAOLA-1 (Other)
KW  - PARP inhibition (Other)
KW  - PARPi (Other)
KW  - PFS (Other)
KW  - breast cancer (Other)
KW  - diagnostics (Other)
KW  - genomic instability (Other)
KW  - homologous repair deficiency (Other)
KW  - molecular pathology (Other)
KW  - ovarian cancer (Other)
KW  - somatic mutation (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:37444554
C2  - pmc:PMC10341077
DO  - DOI:10.3390/cancers15133445
UR  - https://inrepo02.dkfz.de/record/277725
ER  -