Question about BRCA1 & BRCA2

BWorrier

Hi,



I saw somebody talking about BRCA2 is very aggresive with high recurrance rate, then how do you know whether your gene is BRCA1 or BRCA2? What's the difference between them? how to test it? How many of you tested it?



I tried to search on web but didn't get much info.



Thanks!!

nash

There is only one lab in the US that tests for BRCA mutations--it's Myriad Genetics. Here's a link to their BRCA testing info, which includes a BRCA risk calculator:

http://www.myriadtests.com/provider/brca-risk-calculator.htm

Most insurances will not pay for BRCA testing unless you have a family history that suggests you might be a carrier, or you were diagnosed at a very young age. All of this is something you should discuss with your onc, who would either order the BRCA testing for you or refer you to a genetic counselor. The test is just a blood sample that's sent to Myriad.

The testing process determines if you have the BRCA1 or BRCA2 mutations. There are other mutations they are working on, but 1 and 2 are what can be tested for right now. Here's info on the BRCA genes:

http://www.cancer.gov/cancertopics/factsheet/risk/brca

Keep in mind that very few cases of bc are BRCA related, and even if your family history suggests that you might be BRCA positive, you can still end up testing negative. My onc thought I'd be BRCA positive for sure, as I was diagnosed young, my mom died of bc, and my father was an Ashkenazi Jew who died of pancreatic cancer (which is usually BRCA2 in that population). On paper I looked like a carrier for sure, but my testing came back negative. There still is a chance that my dad was a carrier, but I didn't inherit the mutation (there's a 50/50 chance of inheriting it). 

Hope that helps.

Survivor07

Found this on Komen's web site:

Women with a BRCA1 mutation have a 47-66% lifetime risk of developing breast cancer, and women with a BRCA2 mutation have a 40-57% lifetime risk of developing the disease.

http://ww5.komen.org/ExternalNewsArticle.aspx?newsID=43405

Don't know if it's that helpful or not but thought I'd share.

BWorrier

Hi, Survivor07: Thanks for the link.



Hi, Nash: I read the link sent by Survivor07 but I am stil confused. Do all of us BC women carry BRCA actually? or Do they generally call breast cancer cells as BRCA? I ask this question 'cause my radiologist assessment as BRCA (and didn't mention whether it's positive or negative), but how could radiologist know whether it's BRCA or not? I haven't seen surgeon and onc yet ......would radiologist determine whether it's BRCA or not?



also BRCA what? BRCA1 or BRCA2? I don't get it. Pls help me to understand.

nash

Everyone has BRCA genes, but not everyone has mutated BRCA genes that contribute to cancer. Breast cancer cells are not referred to as BRCA. It's people who have BRCA gene mutations who are more likely to develop various cancers, including breast cancer.

The BRCA gene mutation testing is done via a blood test, like I mentioned. It would be impossible for the radiologist to determine if your tumor was caused by a BRCA gene mutation by looking at your imaging studies. 

There are two mutations to the BRCA gene that they test for, hence the BRCA1 and BRCA2. The different mutations contribute to different cancers--BRCA2 contributes to ovarian and pancreatic, for example. But both 1 and 2 contribute to breast cancer.

angeljoy

Bigworrier, I just wanted to add that my genetic counselor told me that many insurances will cover BRCA testing if you have had a diagnosis of cancer.  My insurance paid for mine.

 Angela

BWorrier

Hi, Angela,



But I need to call the insurance company to check first, correct? Did you do yours? what's the outcome?



BTW I am just aware that your are ER-/PR+? Sounds very unusual. So are you put on Chemo more than Hormone treatment? How are you feeling? good?

angeljoy

Hi BigWorrier,

The genetic counselor contacted the insurance company for me to see if the BRCA testing would be covered.  After the BRCA test was negative, the genetic counselor suggested more genetic tests for me to check for mutations in the PTEN gene.  It's much more rare than BRCA, but I had certain physical characteristics that indicated I might be positive for the mutation. I wasn't.  Before that test, the genetic counselor gave me the "codes" for the specific blood test and I called the insurance company myself. There are also another few gene mutations that have been linked to breast cancer, but they are so rare, it didn't seem necessary to test for those.

It is my understanding that ER- /PR+ is somewhat unusual, and it was difficult for me to find much research about it. However, they use the same hormone treatment they would use if it was ER+. I guess hormone receptive is hormone receptive and they treat it the same? In my case, they put me on Tamoxifen because while I don't have periods, I am technically still premenopausal.  I have read that the Tamoxifen is about half as effective in preventing recurrence in ER-/PR+, so that has always worried me. But I did have bilateral mastectomies(one prophylactic) and chemo as well.  I just celebrated the one year anniversary of finishing chemo, my one year since the end of rads is in June, and I am feeling very well, thanks.

If you go to see the genetic counselor they will take a lengthy family history, looking mostly at cancer history and make a recommmendation about genetic counseling.I decided on the testing because of my kids and the grandbaby that you see pictured by my name.  If any of them might have inherited a gene that causes this from me, I would want them to know. It was a very easy blood draw and I got the results a few weeks later.

Angela

BWorrier

Hi, angeljoy:



Sorry I am confused. Why didn't your oncologist give your suggestion but counselor? Is counselor a team of people of one person? How many people should be involved in my surgery/treatment plan?

angeljoy

Hi again Big,

Sorry.I should have mentioned I didn't even see the genetic counselor until after my treatment was over.  In my case, it didn't have any bearing on the treatment I would receive. I had already decided mastectomy was the only way I could sleep at night and since ILC is one of the more likely cancers to recur in the other breast, that I would remove that one as well.  The amount of postive lymph nodes and the size of the cancer all indicated I should have chemo and rads. If I had tested BRCA 1 or 2 positive, then I probably would have considered having my ovaries removed snce it puts you at increased risk for ovarian cancer.

Usually, a breast surgeon is involved first for the biopsy.  Then when all the pathology results are in, your sugeon will talk to you about options, and have you see an oncologist and/or a radiation oncologist.  If you are planning recon, you will also see a plastic surgeon.  I hope that helps clear things up.