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Insights Into the BRCA1 and BRCA2 Gene Mutations

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Published on October 24, 2016

What are BRCA1 and BRCA2, and what does having these gene mutations mean for breast cancer patients? Who should consider being tested? Patient Power’s guest host, Rebecca Seago-Coyle, a BRCA2 breast cancer survivor and patient advocate, interviews Dr. Julie Gralow, a leading breast cancer expert.  Dr. Gralow explains the BRCA mutations and discusses who is at risk.  

This interview was sponsored by Medivation, Inc.

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Transcript | Insights Into the BRCA1 and BRCA2 Gene Mutations

Please remember the opinions expressed on Patient Power are not necessarily the views of our sponsors, contributors, partners or Patient Power. Our discussions are not a substitute for seeking medical advice or care from your own doctor. That's how you’ll get care that's most appropriate for you.

Please remember the opinions expressed on Patient Power are not necessarily the views of our sponsors, contributors, partners or Patient Power. Our discussions are not a substitute for seeking medical advice or care from your own doctor. That’s how you’ll get care that’s most appropriate for you. 

Rebecca Seago-Coyle:

Hi.  I'm Rebecca Seago-Coyle.  I'm a breast cancer survivor, and today I'm here with Dr. Julie Gralow, a leading expert in breast cancer.  

Dr. Gralow:

Thanks, Rebecca.  Glad to be here.  

Rebecca Seago?Coyle:

What exactly are the BRCA1 and 2 gene mutations?  

Dr. Gralow:

BRCA1 and BRCA2 are genes that are found in our DNA in everybody, and when they're functioning normally they make proteins that can help with DNA repair.  Every time a cell divides we have to reproduce our DNA and our chromosomes, and with all the cell divisions that take place during the course of our life span you can imagine that mistakes could be made, so BRCA1 and BRCA2 make proteins that help repair those mistakes so that we don't have problems, we don't get cancer.

When you're born with a mutation in either the BRCA1 or the BRCA2 gene, you're missing one copy and one piece of the protein that's going to help repair DNA.  That leads to more mistakes, and it's repeated mistakes in our genes, in our DNA that can lead to the development of cancer.  So people who inherit one broken copy essentially of BRCA1 or BRCA2 can't repair the normal mistakes that are happening all the time, and they have an increased risk of getting cancer. 

Rebecca Seago-Coyle:

Interesting. So how does one go about finding out if they have the gene mutation?

Dr. Gralow:

We now have tests that can look at the DNA that can find BRCA1 or BRCA2 mutations.  We'd have to be very careful about who we're doing the testing in, and the sort of person that would come in to my clinic that I might suggest BRCA1 and 2 testing would be someone with a lot of breast cancer and/or ovarian cancer in their family.  Those are the two most common cancers associated with BRCA1 and 2.  Someone who may have breast cancer and/or ovarian cancer herself and particularly if those breast and/or ovarian cancers that are occurring in the patient or her family members occur at a young age.

So, for example, in the United States, the normal age of breast cancer, the most common age at which it's diagnosed is about 62, and the most common age of diagnosis of breast cancer in someone with a BRCA1 mutation is about 42.  So when I see a lot of breast cancers and some ovarian cancers in a family and the people in that family are diagnosed at a young age, then I also think more about whether there might be an inherited predisposition to breast cancer.

Now, you asked about how we would go about testing. We can do it as a blood test, but we can also do it just with saliva, doing a swab inside of our mouth. That's becoming even more common, and it's very simple.  We send it off for testing, and we get a result back as to whether the gene is normal or whether we find a mistake that can lead to a problem in making the BRCA1 or 2 proteins.

Rebecca Seago-Coyle:

How long does the test actually take to get the results back?  

Dr. Gralow:

Testing has really evolved from the time when we first learned how to test BRCA1.  It was Dr. Mary?Claire King at the University of Washington here in Seattle whose career led to the discovery of the BRCA1 gene, and the early testing was really pretty primitive.  It took a long time to come back, and we weren't catching all of the potential DNA changes that could account for an inherited predisposition to cancer. 

Now with all of our new technologies we've sped up.  We're much more commonly testing whole panels of genes that can cause inherited cancer of eight, 10, 20 genes at that time.  And the testing has gotten shorter and shorter as well.  Commonly, it can take now less than two weeks for a test to come back. And actually if we already know that there's a gene mutation in the family, and we only have to look at one specific spot in the DNA, that testing can come back really very quickly, in less than a week. 

Rebecca Seago-Coyle:

Thank you so much for joining us today. I'm Rebecca Seago?Coyle with Patient Power. 

Please remember the opinions expressed on Patient Power are not necessarily the views of our sponsors, contributors, partners or Patient Power. Our discussions are not a substitute for seeking medical advice or care from your own doctor. That’s how you’ll get care that’s most appropriate for you. 

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