^
Association details:
| Biomarker: | BRCA2 N255fs + D252fs |
|---|---|
| Cancer: | Breast Cancer |
| Drug Class: | PARP inhibitor |
| Direction: | Resistant |
Evidence:
Source:
Title:
Longitudinal and multi-tissue molecular diagnostics track somatic BRCA2 reversion mutations that correct the open reading frame of germline alteration upon clinical relapse
Published date:
02/22/2021
Excerpt:
Here, we report a case of pathogenic germline BRCA2-driven breast cancer monitored for disease progression and acquired resistance using longitudinal multi-tissue genomic testing. Two unique BRCA2 somatic alterations (p.N255fs and p.D252fs) were identified upon resistance to PARP inhibitor and platinum treatment, respectively. Both alterations restored the open reading frame of the original germline alteration, likely accounting for acquired resistance.
DOI:
10.1038/s41525-021-00181-0
