BRCA test

www.facingourrisk.com (or is it .org?) is a good place to start to explore answers to your questions.

I had the BRCA counseling and test after I was diagnosed because of my family history (Mom with premenopausal BC, maternal aunt with ovarian). I was naive. It's a rare mutation (fewer than 1 in 800 women of Irish-German descent; only around 10% of women with breast cancer). I didn't even realize that non Ashkenazi Jewish people were at risk for the mutation until after I got cancer!

Before I was diagnosed, it was recommended that I get a baseline 10 years earlier than my Mom's age when she was diagnosed (i.e., 30). I then had regular mammograms.

After I was diagnosed w/ bc, I had a lumpectomy. Later, I underwent counseling and tested positive for BRCA2 mutation. Now that I know my gene status, my nieces (and sisters, cousins, etc.) all know that they need to be vigilant per the guidance offered at facingourrisk.org.

I would also like to note that gene COUNSELING is really important, to decide whether or not it makes sense to be tested and if so, to decide whether or not you want to be tested.  Post-result counseling also matters.  So I would urge people to really take the COUNSELING part of the gene counseling seriously and have it done by trained and experienced gene COUNSELORS.  No shortcuts!

Edited because my original post was very unclear about chronology.

Hi "I run" Hi "daughter" you both ask excellent questions.  The very best place to find out the most up-to-date information on genetics and breast cancer risk is from a board-certified expert in cancer genetics or an equally qualified health care provider.  Cancer genetics is a rapidly evolving field of health care and it's difficult for someone who isn't specialized in genetics to keep up!  Also, there are specific protocols for surveillance that are recommended for women who are high-risk including MRI for some women because it has been shown to find lesions in young, high-risk women better than mammograms alone.

I personally carry a BRCA mutation and do advocacy for the high-risk community.  I would be happy to help you find an expert in your area.  Feel free to e-mail me at: suefriedman@facingourrisk.org .

I also encourage you to check out the website for FORCE: Facing Our Risk of Cancer Empowered at: http://www.facingourrisk.org. The website is devoted to the issue of hereditary cancer, genetic counseling, and genetic testing.

I hope this is helpful.  Genetic testing is a personal choice but it is important to base the decision on the most up-to-date and accurate information out there.  A genetic counselor will not try to talk you into or out of genetic testing but will give you the information to make an informed decision that is right for you.

Hugs and love,

Sue

P.S. For me genetic testing was the right decision.  But I saw a genetic counselor first.  Particularly if you have NOT had cancer, in general the test is most "informative" if someone in the family WITH cancer has the test first.  But I promise, a genetic counselor will explain all of that to you and help guide you on where to go from here.

VEGGIEVET-

Do you know or where i might find.  How conclusive is a negative test result if no relatives with cancer have been tested?

Dear AlwaysHaveHope,

What a terrible decision to have to make!!!  If I were you I'd test for the gene and have the mastectomy and reconstruction...it's a whole lot easier than going through chemo, early menopause, and having to take antihormonals, losing your hair too!!!  And all the worry & aggravation of constantly being monitored for cancer...yikes!!

I am almost 60 and I went through the whole schmeil and I still have my breasts, but all I can say is that I think life is more important than breasts...espec. when there are such good plastic surgeons around.

Linora 

thank you linora and daughterofsurvivors.  (btw, i changed my username...faith fits me better than hope)

these are very difficult decisions to make.  linora, i'm very sorry that you had to go through everything you went through.  it was real hard for me to watch my one aunt go through 13 years of tests and medications that had never been used on humans before.  she did it all though because she had hope and faith that something would work, if not fer her, then for someone at some point in time.  i don't want to have to go through that if i can avoid it.  another aunt who was recently diagnosed had a double mastectomy and oopherectomy and now she has to start chemo and radiation.  it sucks.  if i can avoid the chemo and radiation, that would be great!  i'm just scared because i'm so young.

daughterofsurvivors, you know what i'm talking about.  you're 25.  we're very young.  getting the test and knowing that information affects us, as well as our children.  i never considered myself to be at high risk until i started listing out my family history and looking at how insurance companies, breast cancer orgs, etc. defined high risk.  it's scary.  like you said, daughterofsurvivors, at least i have some family members who have tested positive.  i don't know if that's a good thing or not.  i guess it is 'cuz, like you said, it's a little more conclusive that this seems to be very hereditary in my family.

i dunno.  this all just sucks.

It is almost impssible to keep up on all the advancements and changes in cancer research, like everything it seems things are out of date as soon as you hear about them and there is always someone out there who will tell you they know this or that to be false.  Reaserch and knowledge is great, the more power to put into your decision.  But remember to go with your gut as well, sometimes that is the one thing that will convice you of the right or wrongness of something.

Good Luck

I have thought too that it would be waiting and waiting for it to happen, that would be worse than being proactive and gettting something done before hand, even if that is scary.  I am undecided but i have thought of that too.

Hi Quinnie, I too opted for the genetic testing. I didn't want to but decided for the sake of my sisters and my two daughters it was something to do. We are abou 2 weeks into the waiting game for it. the test didn't make a difference in my path of treatment, but it will make a difference in the path my girls will take as far as taking precautions and not waiting for cancer to hit before they do something about it. We are not one's to interupt the natural flow of life, you know making changes in the natural processes of life. But we made this decision for our girls. I do not want them to go thru what I am going thru. If we can prevent that then all this is worth it.

Sadie Jo

I'm BRCA2 positive.  I was tested after my cancer was found; my BS felt I should. 

My daughter, who is 23, later tested positive for BRCA2 also.  Being that your about her age I'll tell you what she is doing - - survelliance.  Since she is so young her doctors do not recommend surgery.  She will be checked often by her GYN and will start mammograms early along with MRI's. 

I'm also a member of the FORCE site, check it out.

I am also Ashkenazi Jewish, and have met with a genetic counsellor on May 28th.  She explained what it could mean to be positive for either BRAC 1 or 2.  I've already decided that if I am positive I will have a double mastectomy and a hysterectomy.  One thing I'm curious about is I've already had a lumpectomy and radiation in the left breast and I'm wondering if that would be problematic in regards to reconstruction.  I had rapid rads and healed very well from it so I'm hoping that I can have both breasts reconstructed the same way if I am postifive for the gene.

I am really pleased that genetic counselling was offered to me because to me it's an early warning system for myself and my family members. In Canada if I am positive my immediate family and their children have the option of testing as well.  The genetic Counsellor told me that the test results could take four months and I'm sort of curious if everyone else had to wait that length of time or is it just for Cdns because the testing facility is in the US.  I wish I would have had more information about genetic testing when I was first diagnosed, I would have held off on the rads until I knew for sure. So right now this all a waiting game, but I do like the fact that with the testing comes knowledge and with knowledge comes power, and I'd rather have power over my cancer and not the other way round. 

Sorry not to have checked back in!

Daughterofsurvivors: I'm hanging on to my breasts. I'm still very comfortable with my decision to have a lumpectomy. If I have a recurrence or a new primary, I might re-evaluate that but right now? I'm just not of the mind to have masectomies and all that that involves.  I probably will have my ovaries removed, though, to reduce some risk.  I wouldn't normally rush to have that done except that I will be leaving the country in January and would like recovery well underway.

The gene counseling folks at Mem Sloan-Kettering (where I'm being treated) seemed fine with my decision and my rationale behind it. My onco was less enthusiastic, but still largely supportive. She made it clear that if I get cancer again, she will push me to have a masectomy or two.

I am just not wild about surgeries and reconstruction blah blah blah.  If it means a shorter lifespan, FINE. I really want to resume my life as best I can, if possible. I'm going ahead with radiation because even if bc does come around again, I was never that wild about the idea of implants.  Down the road I might look back and wish I'd made a different decision. But then again, I think I will take heart in knowing that I made a decision that was based on how I felt and what I knew at the time, not on fear or pressure.

LIke Linda, I think very highly of my gene counselor.  The hours I spent with YK before and after I was tested were some of the most rewarding of this whole experience.

I hope everyone finds a decision they can be at peace with. 

And daughters, Irun and always? It is corny (and I am not normally this sappy) but I would give you both a hug if I could. I have the benefit of about 20 years more experience making these big-ass decisions.  And they are still hard. I am struck by your resourcefulness, clearheaded-ness and poise. (I think my nieces, 20 and 23, are made out of similar stuff.) Trust me, those qualities will always serve you well.

Dx 2/20/2008, IDC, 1cm, Stage , Grade 3, 1/4 nodes, ER+/PR-, HER2-

I had what I thought was a moderate risk of "inheriting" breast cancer.  Two members of my family on the same branch had BC, and a bunch of men on that side have or have had prostate cancer.  My breast surgeon agreed there was increased risk, so she referred me to a genetic counselor.

Using my family tree and family history of BC, the counselor calculated my risk of having a BRCA mutation as being around 5%.  That was lower than I expected.  My surgeon had said she thought insurance would not cover BRCA testing unless the calculated risk of a mutation was over 10%.  The counselor said that if I wanted the test done, the company (Myriad Genetics) would check with my insurance first and call me if the test wouldn't be covered.

I decided to go ahead with the testing, and my insurance paid for it (with no cost to me).  Fortunately, there were no mutations found in either the BRCA1 or BRCA2 gene, so my BC is not "genetic"--at least, it's not associated with mutations in those genes.

Here are some things to think about, besides those already mentioned in this thread.  Even if you are not concerned or don't want to know about a genetic risk of BC, some of your family members might want to know.  I decided to have the test done for my dozens of cousins and their children, as much as for myself.

Also, the cancers associated with BRCA mutations are not just "women's" cancers--BC and ovarian cancer.  Men with BRCA mutations are at risk of cancer, too--mostly prostate and pancreatic cancer.  A report that came out just last month said prostate cancer in men who have a BRCA2 mutation is likely to be very aggressive.  Instead of a lifespan of 12 years after diagnosis of prostate cancer, men with the BRCA2 mutation are likely to live, on average, only 4 years after diagnosis.   So, your male relatives really need to know if there is a BRCA mutation in their bloodline.

Finally, your relatives may need some genetic counseling after you tell them the results of your BRCA testing.  When my sister found out I was negative for BRCA mutations, she decided it was OK to go back on HRT, which she had quit when she heard about my BC diagnosis.  Apparently, she figured that, since there was no BRCA mutation in our family, she was not at risk of developing BC; and the HRT would not be a problem.  But, that's a topic for another thread...

otter 

To add to confusions, I was tested, came back negative, but have a very strong family history, and am considered very high risk. My mom had bc at 59, and her only sister had ovarian cancer at 50, plus many memebers on paternal side with bc at young ages (30s).  I was diagnosed in Feb with ATh an Lcis, which my mom had as well as ILc with nodes, and am now going through the tests for OC, since my tumor markers were elevated and PET scan came back hot on r ovary.  Because I am BRAC-, my onc says I'm in a real gray area, and have to just keep getting tested, that there are probably other genes they aren't aware of as well.  If I was +, I would just go ahead and remove everyhing, but being -, I keep holding on to a hope that maybe it won't get worse.  I just wanted to share, and say that maybe a BRAC+ isn't so bad, cuz you can be proactive, at least you have some defintie perimeters!  But mostly, my prayers to all of you, cuz no matter genetics, we are all in the same fight!  All of you give me so much courage!