What Is a Breast Cancer Genetic Mutation?
What Is a Breast Cancer Genetic Mutation? from Patient Empowerment Network on Vimeo.
Breast cancer patients may learn that they have a “genetic mutation”—so what does that mean exactly? Dr. Jame Abraham defines the term and explains what mutation status could reveal about a patient’s individual disease.
Dr. Jame Abraham is the chairman of the Department of Hematology & Medical Oncology at Cleveland Clinic and professor of medicine at Cleveland Clinic Lerner College of Medicine. Learn more about Dr. Abraham.
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So, genetic mutation is, the change is happening within the tumor, which is making it more aggressive, or less aggressive. So, what’s driving this tumor? Let us think, it’s like a machine, and the machine has, probably, different parts, and we know, every part plays a role in driving that engine, but some part may be playing a major role in driving that engine, and the question is, can we knock that off with certain medicine?
So, select genetic testing. If the tumor has, what we call, it’s an ESR1 mutation, then we can use some medicine, which can block that ESR1. That’s a new drug, which just got approved recently, to see if they have some kind of an immune marker, what we call as, a PD-L1 marker. Then, it can be used like an immunotherapy, to stop that cell growth. So, let’s just say, if I have somebody with BRCA1 somatic mutation, in some patients, even certain medicines, like PARP inhibitors, may be helpful. So, identifying that, what’s turning them on, and trying to identify a medicine which can turn that off.