RICTOR gene amplification is correlated with metastasis and therapeutic resistance in triple-negative breast cancer.


Triple-negative breast cancer (TNBC) is characterized by its aggressive behavior, metastasis and lack of targeted therapies. Herein, we discuss the clinical, histopathological and genetic profile of a woman diagnosed with TNBC. Since the patient had no durable response to chemotherapy, a genetic profiling was carried out. Next-generation sequencing analysis of 592 genes showed a missense mutation, p.E545A in PIK3CA, thus the patient was started on the mTOR inhibitor everolimus, in combination with exemestane, which controlled her pain; however, the disease progressed aggressively. More importantly, next-generation sequencing analysis showed a RICTOR gene amplification (eight copies) suggesting that RICTOR promotes the genesis of TNBC. We conclude that determining regulators of RICTOR and furthermore, their inhibitors might decrease cancer cells proliferation rate in patients with TNBC.


Said El Shamieh


Fatima Saleh, Salim Moussa, Joseph kattan, Fadi Farhat

Journal/Conference Information

Pharmacogenomics,DOI:, ISSN: 1462-2416, Volume: 19, Issue: 9, Pages Range: 757-760