BRCA mutations represented the first biomarker for precision oncology in ovarian cancer, as BRCA-mutated ovarian cancer samples were found to be sensitive to PARP inhibitors. Mutations in the BRCA1 or BRCA2 genes lead to a deficiency of the homologous recombination (HR) DNA damage repair pathway. However, a similar deficit can be caused by epigenetic or genetic alterations in various genes involved in the HR pathway. In fact, homologous recombination deficiency (HRD) has been found in about 50 percent of ovarian cancer cases, while somatic or germline BRCA mutations are detected in about 20 percent of cases. Clinical studies have shown that PARP inhibitors are effective in non-BRCA-mutant HRD-positive samples, so it is essential to identify this biomarker in clinical practice.
In this webinar, Philip Jermann will first present a short overview of when it is important to consider comprehensive genomic profiling (CGP) and its role in clinical research of solid tumors. Nicola Normanno will then present a research study of the analytical validation for in-house HRD assessment performed in his lab with the Oncomine Comprehensive Assay Plus on a cohort of ovarian cancer samples. He will also present a retrospective analysis how these data correlate with the clinical outcome of the same cohort.
Speakers:
- Dr. Nicola Normanno, Director, Translational Research, National Cancer Institute, Italy – Pascale Foundation
- Dr. Philip Jermann, Clinical Director, Medical Affairs, Clinical Sequencing Division, Thermo Fisher Scientific
This webinar is supported by Thermo Fisher
