RESUMEN
Reversion mutations are associated with clinical resistance to poly(ADP-ribose) polymerase inhibitors (PARPi). Here, we describe the detection of a BRCA1 reversion mutation in a 39-year-old woman with metastatic breast cancer harboring a heterozygous germline BRCA1 exons 7–8 deletion who received PARPi olaparib combined with immune checkpoint inhibitor camrelizumab as third-line therapy. During progression from the olaparib and camrelizumab combination therapy, we identified via genomic sequencing a novel 7-base pair somatic deletion in BRCA1 (c.617_623delACAAATC). Sequence analyses indicated that this mutation realigned the reading frame of BRCA1, which potentially led to the reversal of its normal function and conferred resistance to PARPi.
RESUMEN
Objective Observe the response and adverse effects of impact dose recombination human erythropoietin(rhEPO)in the breast cancer patients with anemia induced by chemotherapy.Methods 43 breast cancer patients with anemia induced by chemotherapy were randomly divided into two groups,treatment group(23 patients)and the control(20 patients).The treatment group received rhEPO for 10 days and oral iron therapy,while the control group was oral iron therapy only.Results After 4 weeks,the hemoglobin level, hematocrit,reticulocyte and quality of life be revaluated,the treatment group was significantly better than the control.The adverse effects was tolerable.Conclusion The impact dose rhEPO is effective and tolerable in the breast cancer patients with anemia induced by chemotherapy.