Why did I not get BRCA test?

melly1462

I was diagnosed at 49, a month shy of 50.  Because my sister was diagnosed at 36, passed at 39, my BS highly suggested I be tested.  She said a positive result would change her treatment recommendation.  And because I was already diagnosed my insurance would pay 85%.  I agreed to the test because I have a daughter, otherwise I'd have said no.  Tested negative. 

Charles_Pelkey

Uncle died of breast cancer. Father died of pancreatic. Female cousin diagnosed with Invasive Ductal Carcinoma ... and then I developed breast cancer at 53. Yeah, I got the test. It came back BRCA2 positive. Remarkably, I am the first in the family to get the test, although I'm now encouraging my other cousins to do the same.

Now, we get to raise the issue with our kids. We're not under a lot of time pressure to do so, but we will have to do it. 

Beesie

Selena, I'm with you on pretty much everything you said.

With your family history, I understand why you did not have a BRCA test.  I wouldn't have either.

And I agree with you that not everyone who is BRCA positive gets BC.  In fact, while some BRCA mutations present a very high risk (80%+), others present a much lower risk (in the range of 25%).

When I had my testing, while I knew that I would have my ovaries removed if I tested positive, I wasn't sure if I would remove my healthy breast (I'd already had a single MX - no choice on that because of too much DCIS in a small breast).  Ovarian cancer is very hard to catch early (at a point when it can be effectively treated) so that's something I would have addressed prophylactically if I knew that I had even a moderately high risk.  But if I was BRCA positive and I had a mutation that didn't take my risk above 25% or 30%, I don't know that I would have had the prophylactic MX.   The way I see it, I am at risk for other types of cancer and other diseases, partly because of personal and family health history, and partly because I'm a human female living in the year 2012 (with a lifetime of exposure to all sorts of crap!). I think that removing a breast to avoid a BC diagnosis sometimes provides a false sense of security. That's not to say that it doesn't make perfect sense for those who are BRCA positive and very high risk - I'd do it then too. It's just that I know that I can't remove all the body parts that put me at risk and even removing my breasts only reduces, but doesn't eliminate, my risk of breast cancer. 

MRDRN

Selena-  Thanks for the amazing posts!  I just finished listening to a great "on line conference" over at "Living Beyond Breast Cancer" for free,  called Living Beyond Recurrance    I agree that I do not want to make Cancer my life! I find myself coming less and less  and so grateful that it is still here when I need it like anniversary trigger days  

hrf

Selena, I'm glad that you are not just comfortable in your skin .. but are in fact a strong, confident woman. That is an admirable trait. I totally agree that we cannot live in fear and that we must go on and live our lives. And if other people don't agree with you, I don't think that means you shouldn't be on these boards ... we are each different and it's good to engage in conversations that share differences.

However, I am a BRCA2+. I have had breast cancer two times -- 3 1/2 years apart ... both with different pathology. I watched my mother die. I watched many of her first cousins die. I have seen cousin after cousin in my family being dx with breast cancer......we all have the same mutation. As recently as 2 years ago, my 45 year old cousin died....we have had many deaths and many illnesses. My doctors asked me repeatedly to do prophylactic mx following my first dx. I opted for surveillance. Mistake ... I got another bc within only a few years - not picked up by mammogram, u/s and even mri .... it may yet kill me.... I know the numbers too. Depending on what you read the risk for a BRCA 1 or 2 woman to get bc in her lifetime ranges up to 85%...so I don't care if you want to say it's ONLY 60% -- those are not good odds. Every BRCA savvy doctor around is recommending pbmx and pbso (re: ovarian). We are also at higher risk of melanoma and pancreatic cancers. At this stage I don't want to bury my head in the sand, nor do I sit around and worry ..... but unless you have seen the ravages of BRCA - death after death ... well I believe the risk is over 90% in my family to develop the disease if one has the BRCA. 

There is a lot of information on the FORCE website if anyone wants to check it out. And yes, even with pbmx, the risk is reduced by ONLY 90%....so I'm playing the odds that are most in my favour as are many with similar genetics.

We are all different. And we want to stay different. There are wonderful women on these boards - a lot of support, a lot of information ... these women have helped me get through the past few years of my life. And i hope I have helped some as well.  

Cowgirl13

hrf, thank you for your post.  I got so much out of it.

Beesie

My take away from this discussion is that just as all breast cancer diagnoses are not alike, all BRCA mutations are not alike.  My understanding is that on average those with the BRCA1 mutation face higher risks than those with the BRCA2 mutations. But nobody is average, and even within the BRCA1 and BRCA2 groups, there are huge variations in risk level based on the specific genetic mutation. The average BC risk for BRCA1 may be approx. 65% and for BRCA2 it may be approx. 45%, but the range is actually much greater, depending on the genetic mutation.    

So as with everything else about BC, when it comes to how one should approach BCRA testing and dealing with a positive BRCA result (or frankly, a negative BRCA result), one size does not fit all.  There is no right or wrong, just lots of different family situations, different risk levels, and different approaches.

hrf

One of my BRCA cousins is a doctor. In fact she went to medical school with my MO and she told me that recent research says that BRCA2 is worse than BRCA1. While BRCA1 has a higher risk of ovarian cancer, BRCA2 is connected to melanoma, and pancreatic cancer as well. I don't recall if there is also a colon cancer risk but I remember hearing that and quite a few members of the family have died of colon cancer - the ones that didn't get BC got colon cancer. Some died before the mutations were discovered. I agree that the range is much higher than stats might suggest. That is why the docs are all pushing for prophylactic surgeries. I have attended the FORCE support groups and the figure of 85% does get used. My cousin the doctor --- she had her breasts removed right after her children were born. Said she wasn't willing to take a chance because the odds are so bad.

Beesie

hrf, in your family, with the specific genetic mutation that you have, the odds are that bad. If that was my family history, I'm sure I'd opt for prophylactic mastectomies too.  

There are other families like yours, who are also high risk.  But there are also families with different mutations for which the risks are much lower.  I know someone who is BRCA 2 positive who was told by her genetic counsellor that her BC risk is 25% - not much higher than mine, and I'm BRCA negative.  That's lower than I would have thought for any BRCA mutation, but that's what she was told.  I've seen studies that show a very wide range of risk levels; for some, the risk is as high as 85% (or higher) but for others the risk is much much lower.  My understanding is that over 2000 variations of BRCA 1 and 2 mutations have been discovered so far - and each one probably confers a different risk. 

SelenaWolf

Beesie, I've seen those number ranges, as well.   And hrf, I'm so sorry for what you've had to witness in your family and what you've been through.  Please believe, that I was NOT trying to tell people to NOT have the test, nor was I telling people to NOT deal with their own risk as they see fit.  It was just my understanding from what I've read and, from my MO and genetic counsellor that a BRCA+ result is not an automatic death sentence and that there are options as to how it can be dealt with.

TeriR

HRF you have been through a lot.  You seem like a very strong person and I'm hoping I can be that way as I move through my decisions.  What I found interesting is that I was being strongly lead towards genetic counseling because of my family history and new DCIS dx.  So I get the pbmx implication.  But what I don't understand is about the ovaries.  She said if I came back BRCA + it would not indicate anything about the ovaries other than I was high risk.  She went on to say that my family history for ovarian cancer would be the driving factor for my potential risk.  Do you think that genetic testing is viable when deciding on pbo?  I'm so confused.   

SpecialK

terir - my breast surgeon tested me the day I was diagnosed because I am adopted and have zero access to family history.  I was initially a lumpectomy candidate and they indicated my treatment choices would be dictated by my BRCA test results.  Ultimately I tested negative, but opted for a BMX anyway because I had extremely dense (mammo did not pick up my 2cm mass) and very fibrocystic breasts and I wanted to eliminate as much future worry as possible.

Beesie

Teri, who did you have that discussion with about ovarian cancer risk?  A genetic counsellor or your family doc or an oncologist?   

I'm not sure why someone would say that your family history of ovarian cancer would override a positive BRCA result, when it comes to ovarian cancer risk.  In my case, on my Dad's side of the family there were only 3 women who survived past age 30 over 3 generations - so if I had inherited a BRCA mutation from that side of the family, how could I use family history as a guide?  If I had been BRCA positive, the ovaries would have been gone, no question about it.