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Expert Discusses Genomic Testing in Breast Cancer

Monday, August 28, 2017
Francisco J. Esteva, MD, PhD
Francisco J. Esteva, MD, PhD
Medicine is becoming more personalized for patients with breast cancer as physicians continue to understand both the disease itself and genomic testing that can lead to more optimal treatment plans.

Francisco J. Esteva, M.D., Ph.D. discussed genomic testing at the 16th Annual International Congress on the Future of Breast Cancer® (East).

In an interview during the meeting, Esteva, a professor in the Department of Medicine at NYU Langone Medical Center, discussed the clinical implications of genomic testing for patients with metastatic breast cancer.

What are the clinical implications of genomic testing in breast cancer?

There are different technologies that are being used to profile both primary and metastatic breast cancer tumors including next-generation sequencing, circulating-free DNA in the plasma and other technologies looking at the microenvironment. In my presentation, I just focused on next-generation sequencing and liquid biopsies. 

The most important area right now in terms of research is the profiling of metastatic tumors. In breast cancer, there are not as many mutations in cancer-related genes as we have seen in other tumor types, such as melanoma or others where the mutational load is not as big.

In The Cancer Genome Atlas study published in Nature a few years ago, they profiled 500 tumors and found that around 10 percent of all tumors had more than six mutations. Most tumors either had no mutations identified in the top-40 cancer-related genes or just had very few mutations. I don’t think we have the whole story about cancer drivers using genomic sequencing today. It is important information, but it remains a research tool to direct patients to clinical trials targeting those mutations.

These are all major challenges that we need to deal with. If we find a specific mutation, whether that mutation is a driver of the cancer or whether it is a passenger — meaning it is not driving the tumor phenotype — is still unclear. There are several examples where this technology may be useful in the future. We have found mutations in HER2 that may predict a response to Nerlynx (neratinib). For example, in one of the studies presented by Dr David Hyman at Memorial Sloan Kettering Cancer Center at the 2017 AACR Annual Meeting, findings demonstrated a promising approach to sequencing tumors.

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