BRCA testing came back negative!

lifegoeson

BRCA testing came back negative!

lifegoeson

I'm breathing a huge sigh of relief here.  I  just got the results and the oncologist said the test came back "normal."  This was a message left on my voicemail, so there was no other explanation and I will call tomorrow for details but it sounds good!

I was tested because I have a really strong family history - maternal grandmother with breast cancer, 2 maternal aunts with BC, first cousin (mothers side also) with BC, mother had melanoma, paternal grandmother stomach cancer, paternal uncle cancer (I don't know where and he's deceased), uncle on my dad's side died of non-hodgins lymphoma.  That's a lot of cancer, and a lot of BC.  

Nobody else was tested but me.  

Is this a trustworthy "real" negative or an uninformative negative?

In any event, they didn't find the mutations they tested for, and now my ovaries get to stay where they are, which is good news indeed.  I would have had the ovaries and fallopian tubes removed if it had come back positive.  

Mouser

Terrific news!

Yes, you can rely on the BRCA test, as far as it goes: which is to tell you about the 2 major bc genes. It's an informative negative, at least for you, even tho no one else was tested. It's theoretically possible that one of the BRCA mutations is present in other members of your family, and that would be an issue for other people, but it isn't a worry for you.

Congratulations on the good news, and on avoiding more surgery!.

reneea80

I got a phone call today that my BRCA1 & BRCA2 test results are in but the wont give them to me over the phone, have to go in tomorrow morning. I'm pretty worried. I have a large family history of BC

lifegoeson

Thank you Mouser and good luck renee!!

Mutd

A discussion with Genetic Counselor is always a good idea, positive or negative. As is getting a copy of your lab report. (At facingourrisk.org the other week, they discussed the story of a patient who was told by the ob/gyn, over the phone, that she was negative. Then her sister's test came back positive, and the first sister requested the report, which said in boldface, positive for a deleterious mutation. Needless to say, they don't see this ob/gyn any more). And generally breaking results over the phone is kind of frowned upon in the world of medical genetics.

 Lifegoeson - when you are the first person in the family to get tested, and no mutation has been identified in other relatives, the result should be considered "uninformative". But it isn't like totally uninformative. It just means that it is less clear than a negative result in a family where a mutation exists. How much less, it depends on the family history. Since you have DCIS and your mother doesn't have br or ova, and the cancer history is all in the mother's family, there should be virtually no doubt left that the result is really negative. Mouser must be right. What level of uncertainty still remains is up to a GC to evaluate.

crazeetoes

you are lucky.  i have 2 mutated genes in the brca2.  i recently had prophilactic mastectomies on both breasts.  i was scared but i di go thru with it,  my mother and aunt both had cancer, one lived , one died, my mother in fact. i went thu the surgery and i have a bit to go still but i have no regrets since the testing saved my life from the fate i was leaning toward.  i am happy for you that all is well.  you can take that big breath now and relax.

LISAMG

Lifegoeson,

I dis-agree with the notion you are a true negative, since NO one has tested in your family. Rather, you are Un-informative until someone in your family tests!! Such was the case for myself until my maternal aunt with ovca also tested negative. I am still un-informative with lots of BC in the family and also on my Dad's side. You really dont know your risks at this point. I would encourage you to sit down with your GC and discuss this further. Best wishes, from another long Islander to another!

Lisa

lifegoeson

Hi Lisa, and thanks - that's basically what I got from reading about it.  But at this point, since I've already had a bilateral mastectomy, there's not much to be done from a practical standpoint anyway.  If it had tested BRCA positive I would have had my ovaries out, but with a negative, even an "uninformed negative," that is not necessary. 

And on another subject - we Long Islanders finally got a nice weather weekend!

Eldub

Yep, unfortunately, it's an uninformative negative.  Ditto for me.  (My family history is similar - not as much bc, but LOTS of other cancer, including ovarian.  Also mostly on my mom's side, though my mom herself has not had cancer.)  If you knew that your family members with bc had a BRCA mutation, then the negative would mean that you HADN'T inherited that mutation.  A true negative.  But since you don't know if any BRCA mutation exists in your family, you don't know how your genetic status compares to the others.  Also, there are undoubtably MANY different genes that relate to cancer - and only a few few of them identified so far (and thus able to be tested for).  So even if other relatives had been tested and were negative for a BRCA gene, it seems very likely that both of our families do have some form of genetic mutation that leaves people suseptible to cancer.  But since it can't be tested for, we don't know if WE have that mutation!!

Frustrating, I know.  I'm also debating ovaries out...as well as going back for a double mastectomy.  Giving it a little time to decide.  (I noticed that your DCIS was low grade - which could be an indicator that it was not genetic in your case.  The genetic stuff more typically tends to be more aggressive - i.e. grade 3.)

Good luck to you!

Linda

LISAMG

Breast cancer risks in women with a family history of breast or ovarian cancer who have tested negative for a BRCA1 or BRCA2 mutation!!

Very important study done by Steve Narod for those with un-explained breast cancer families and with affected family members also testing negative!

http://www.nature.com/bjc/journal/v100/n2/full/6604830a.html

LISAMG

Importance of Advocacy: A Personal Experience

I strongly believe these recent research findings by Narod & others [posted above in previous post] are rather important. There seems to be a real need for this new information to be disseminated within the medical community, especially to those directly involved with BRCA and/or high risk patient populations. This includes genetic counselors & medical/surgical oncologists. Briefly, I would like to share my recent personal experiences & why I feel this is crucial awareness targeted for Un-Informative BRCA Negative high risk women.

Several months ago, a very BRCA savvy oncologist told me that it was strongly believed I am a "true" negative. Subsequently, my risks were quoted to be average & I would ''probably never get breast cancer" [despite several BC's and OVCA from both sides of my family]. Two years ago this very same physician conveyed no need for breast MRI's because there are "too many false positives". It was just assumed [by this physician] there would be a positive BRCA mutation found within my family & because of this, my risks would be equal to that of average women. However, I was un-informative negative THEN & NOW [informed] Un-informative since my maternal aunt with ovca also recently tested negative.

During my last [and final] visit, I was told I would be "just fine" and asked, "When would you like to come back?". Gosh, let me think quickly now,,, Having just been told I am not high risk, Why would I ever return to your office? I am not going back, instead I will move forward. This same physician told me to relay any info. to the office Re: any family members test results and "keep me posted". When I received my aunts results in mid December, I did try to reach this physician twice, leaving messages to please contact me Re: my risks and a family members' test results. Am I still waiting by the phone?? NO, I am done with a physician who simply labels patients "average risk" in the absence of a positive BRCA mutation.

As a result, I want to emphasize the importance in being proactive, if Un-informative BRCA negative, especially when other family member{s} also test negative & to advocate empowerment in seeking proper guidance. Demand annual breast MRI's if you have a significant family history. Maintain vigilant scheduled breast imaging along with regular clinical breast exams. Speak to your physician about possible chemopreventative therapy and whether you may or may not be a candidate. Find a physician who will listen to you and whom you can trust. [Mistakenly, I thought I had the "best" of the best.] Unfortunately, this physican will never know how very disappointed I am & how much I depended on their expertise and knowledge. I simply trusted & relied on this physican very much and was ever so let down and ultimately "written off". Another physician recently told me I should be getting annual breast MRI's, being high risk with up to a 40% lifetime chance of getting BC. Having multiple biopsies already, it is my understanding this would be a much more accurate personal risk assessment than previously led to believe.

Life certainly goes on with surveillance. I attribute much of this ability from seeking knowledge/guidance elsewhere & tolerating my risks. Just venting here. I suppose this wasn't so brief after all, but it feels so good to release all my HUGE disappointments and anger. As Dr. Narod recommends... We will see what patients do with this advice.

lifegoeson

Thank you for posting that link.  Very interesting article, and I agree, the tendency to place anyone who doesn't test "BRCA positive" into the "normal risk" category, even if they have a very strong family history, is troubling.  The article suggests MRI for such women.  My sister, who has not had BRCA testing, is now getting yearly MRI screening for BC.

On the plus side, it does say that while there is an increased risk of BC in such women there is no evidence of increased risk of ovarian cancer, which is good news indeed.  

bel

My mother had breast cancer 5 years ago, at the age of 69, her mother died of ovarian cancer at the same age and I got breast cancer last August.

I too tested negative. Later on, the lab that was looking at my mum's tests concluded that she was positive; my lab re-looked at my results and agreed, so I then tested positive.........

I tell you this because you shouldn't ever overlook the risks still as even if the test is negitive, if you have family history, your risks are higher and if it is genetic, but you are the only person to develop it, it may go undiscovered as being genetic forever, or your mother could even get it after you.

BRCA2 causes breast cancer, ovarian cancer and prostate cancer, so if you even suspect you have this, please be vigilant.

I have to have a further mastectomy and a full hysterectomy and I am only 38.

Mary22

I tessted positive for BRCA2, which more then likely came form my mom's side of the family. She died at 29, of ovarian cancer. However, since I have a strong cancer history on my dad's side, I have been researching other genetic/hereditary causes for cancer. One is Cowden Syndrome, it is a gene mutuation in the PTEN gene. The other is Lynch Syndrome, both show strong family history of cancer, Ovarian, BC, colon and other digestive system cancers. Check out

www.facingourrisk.org it has some very good information about hereditary cancers.

Good luck to all.

alucasrn

I was breathing with relief too but it didn't last long. I had the BRCA testing a few months ago. I had to go into the genetics counseling clinic and meet with them and my oncologist in order to get the results. You may want to consider scheduling a visit to just discuss the ramifications of the test results. Has your oncologist done a BCRAT (Breast Cancer Risk Assessment Tool) on you? With my family history, as well as other factors like at what age you started your period, I scored at 42.3%  My understanding is that it means I have a 42.2% more risk of having cancer within the next 5 years than the average woman. I have not been diagnosed with BC and my BRCA was not mutated BUT my oncologist is still encouraging me to consider one of two options.....
1.  start taking prophylactic chemotherapy  using a drug called Tamoxifen
2..have a prophylactic bilateral mastectomy
That is where it stands for me now. It is proving to be almost an impossible decision to make.
Please keep us informed about what you are doing. This site has proven invaluable to me when I need a question answered.  Good Luck!

Mutd

BCRAT is available online at the NCI website

http://www.cancer.gov/bcrisktool/

and anyone can use it. Of course they only recommend it for professionals. But anyone can double-check their own status, and see for themselves how the percentages are defined (the tool doesn't work for women under 35, for those already with cancer of carcinoma in situ, and of course for BRCA positives or for the women negative for their familial mutations in BRCA genes).

Alucasrn, you may need to try it yourself too, just to double-check. Because my understanding is that BCRAT doesn't even give the "relative risk" score (in comparison with average women of your age and race).

Instead, BCRAT yields 4 numbers.

1. Your cancer risk in 5 years (usually up to a few %).

2. Average woman's risk to get cancer in 5 years (1% or so, depending on age and race).

3. Your cancer risk over the lifetime (usually tens %)

4. Average woman's risk to get cancer over the lifetime (10% or so).