Initial results from an ongoing clinical trial, the first designed to examine the utility of whole-genome sequencing for triple negative breast cancer, were reported today during the CRTC-AACR San Antonio Breast Cancer Symposium.

The results indicate activation of targets not previously associated with triple negative disease and could point toward new treatment strategies. Based on mutations uncovered by sequencing, physicians recommended the women enter treatment protocols for either existing drugs or new agents being evaluated in pharma-sponsored clinical trials.

Of eleven tumors sequenced to date, each was genomically unique, but commonalities were observed. Some patients displayed amplified genes in the RAS pathway; one patient had amplification of the BRAF oncogene, as well as activation of a growth pathway known as the MEK/AKT pathway. This patient displayed an impressive response to a MEK/AKT inhibitor currently in a phase I clinical study.

"Those results are quite striking considering that these are women with advanced disease," said Joyce O’Shaughnessy, MD, who presented the data. "If MEK/AKT activation is found to be present in a substantial fraction of triple negative patients, inhibitors of this pathway could prove a significant tool in fighting this disease."

The study, titled "Next Generation Sequencing Reveals Co-Activating Events in the MAPK and PI3K/AKT Pathways in Metastatic Triple Negative Breast Cancers," is sponsored by the Translational Genomics Research Institute (TGen) and US Oncology Research with support from Life Technologies Corp. Whole-genome sequencing of tumors and normal tissue was performed on Life Technologies’ Applied Biosystems SOLiD™ platform, and results were validated in a CLIA-certified laboratory.

Source: Life Technologies Corp