Go beyond BRCA 1/2
Expand your biomarker coverage
Germline pathogenic variants in DNA damage response (DDR) genes have garnered increasing attention in many cancers including breast, ovarian, prostate and pancreatic1,2,3. NGS offers growing opportunities to characterize DDR targets, with important implications for targeted therapies in the future. However, the demand for specialized resources for complex workflows and bioinformatics is a daunting challenge. Our panels overcome such limitations to expand your DDR biomarker coverage beyond BRCA1/2.
The root cause of genomic instability
Everyday the human DNA is bombarded with numerous DNA damaging events4,5. Different cellular signaling events and enzymatic activities are triggered to repair these DNA damage. The events are collectively known as the DNA damage response (DDR). There are two types of DDR:
- Functional DDR: Rapid and efficient repair of DNA damage through cell cycle arrests or apoptosis. Functional DDR helps to maintain genomic integrity, which is critical for cell survival and viability2,6,7.
- Dysfunctional DDR: Mutations and/or dysregulation of DDR mechanisms lead to unrepaired DNA damage disrupting genomic integrity. The genomic instability induces various aberrant cellular behaviors leading to the development of cancer.
DDR is dependent on the type of DNA damage
For each type of DNA damage, the cell has evolved a specific pathway for repair that typically involves many proteins. Various proteins involved in the DNA repair pathway include PARP enzymes in BER, NER proteins in NER and MMR enzymes in MMR pathway6,7,8.
Homologous recombination repair (HRR) proteins repair the double strand breaks (DSBs) in DNA. BRCA1 and BRCA2 are tumor suppressor proteins that are well characterized members of the HRR pathway9. Loss of function or deleterious mutations in HRR genes contribute to homologous repair deficiency (HRD).
Discover – DNA damage response solutions
Featured success story
QIAseq HRR Panel drives new biomarker insights in multiple HR deficient cancers
Are you interested in valuable NGS insights? Want a streamlined NGS solution that you can customize? Don't look any further. Our QIAseq HRR Panel is flexible to meet your every NGS need. You will be able to customize your panel by adding your genes of interest. Dr. Nils Hartmann illustrates the benefit of the custom QIAseq panel and pre-optimized analystics workflow in th profiling of genetic alterations in breast, ovarian and prostate cancers.