Impact of tissue-based genomic profiling on clinical decision making in the management of patients with metastatic breast cancer at academic centers

Abstract

Tumor genomic profiling affected clinical management in a minority of patients with metastatic breast cancer, thus these data do not support the routine use of genomic profiling outside of a clinical trial.

Exceptional Response to Copanlisib in a Heavily Pretreated Patient With PIK3CA-Mutated Metastatic Breast Cancer

“…12 More recently, genomic profiling of 117 patients with metastatic BC demonstrated a relatively high frequency of PIK3CA mutations in the entire cohort (32%). 13 In another series of 132 tumors that were tested by NGS, nine carried PIK3CA mutations and two yielded partial response to PIK3CA inhibition. 14 Although PIK3CA protein expression has been shown to correlate with poor prognosis in early BC, 15 PIK3CA mutations have been associated with favorable prognostic significance.…”

Molecular Testing in Breast Cancer

“…Although actionable alterations were found in >95% of breast cancer patients, the percentage of patients who received therapy driven by these genomic profiling results varied, with one study showing 9% and the other showing 52%. 70,71 As in other solid tumors, cell-free or circulating tumor DNA (ctDNA) is an attractive option for testing and management. Advantages of assaying ctDNA include a relatively noninvasive, blood drawebased method of testing, which facilitates longitudinal assessment, as well as the potential for capturing a heterogeneous landscape of a whole tumor.…”

Molecular profiling in breast cancer—ready for clinical routine?

“…Despite the technological advances, little data supports the routine use of large-scale genomic testing of tumors in advanced breast cancer. Results of the first clinical trials have been disappointing, as in spite of the presence of targetable mutations in a majority of enrolled patients, only 11% had actually been treated according to their molecular tumor profile [19]. However, for selected mutations, evidence from clinical trials supports the use of genomic profiling.…”