October 18, 2021- ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series- OnDemand-October 18, 2021- ClinGen Somatic Cancer and VICC

Video Transcription

Video Summary

In this video, Dr. Michael Pishvayan and Dr. Jonathan Brody discuss the response of various mutations in the BRCA genes to platinums and PARP inhibitors in pancreatic cancer. They present two cases in which patients with BRCA mutations had different responses to treatment. The first patient, with a somatic BRCA2 mutation, showed a complete response to PARP inhibitor therapy, while the second patient, with an underlying germline BRCA2 mutation, experienced tumor recurrence shortly after stopping platinum-based therapy. The speakers emphasize the heterogeneity of BRCA mutations and the need for further research to understand the mechanisms of resistance and predict response to treatment. They also highlight the importance of longitudinal testing to identify changes in the tumor over time and guide treatment decisions. The speakers acknowledge the evolving nature of somatic testing and emphasize the need for comprehensive testing that includes germline and somatic testing to fully understand the underlying mutations. They recommend using resources such as ClinVar and research papers to interpret BRCA variants and their pathogenicity. The discussion highlights the complexity of interpreting BRCA mutations and calls for better standardization and functional assays to guide treatment decisions. Overall, the speakers stress the importance of personalized medicine and continued research to improve treatment outcomes for patients with BRCA mutations.

Keywords

BRCA mutations

platinums

PARP inhibitors

pancreatic cancer

somatic BRCA2 mutation

germline BRCA2 mutation

tumor recurrence

longitudinal testing

personalized medicine

improve treatment outcomes