Asking family member for BRCA1/2 test

Schoggimonster

Hi,

I am a 38 year old women with a high risk for breast cancer. My mother (diagnosed at age 49, and died at age 60), grandmother and greataunt died from breast cancer. My maternal aunt (the sister of my mother) also has breast cancer (diagnosed at age 48), and she is currently 8 years breast cancer free.

I was tested shortly after my mom's death for the BRCA1/2 gene, and was tested negative. I was recommended that my aunt gets tested too since it would be more meaningful since she has had breast cancer (eg. if she were BRC1/2 positive it means that I did not inherit the breast cancer risk, if she were BRC1/2 negative it means another gene mutation causes the cancer in our family). Unfortunately, my mom passed away, and thus can't be tested. I've asked my aunt a few years ago (about 7 years ago), and she did not want to be tested at that point. She also has 2 daughters, and they both did not want to know my test result (thus they don't know that I am negative).

 I have now found a lump after an MRI, and am currently waiting for my biopsy result. I guess this brings up wether I should approach my aunt again to see if she has changed her mind, and would get tested since it would affect my risk and about possible prophyliatic treatment I might undertake.  I understand that not every person wants to be tested, but maybe I should ask her if she could just get tested, and only give me the result?

 I have a good relationship with my aunt, but I am not sure if I should ask her again. These are difficult things to talk about, and bringing the topic up might create anxiety and reminding her that my mother passed away from the disease she has too. Also, my aunt lives in Europe where genetic testing is a bit less common, so I am not even sure if she understands the issues and positive aspects of the test.

For me, it would really help to know if there is a gene who causes our breast cancer in my family since it would give me a better picture of how concerned I have to be. If you were in my situation, would you ask my aunt again. I don't want to appear selfish but this is affecting my health.

Thank you for any help you can give me, or personal experience.

Nicola 

cmb35

Nicola,

I might be misunderstanding your post, but if you tested negative, then you're negative, regardless of what your aunt test results show. Each person has a 50/50 chance of inheriting the gene from their parents (if they have a gene.) So your mom could have had the gene, but her sister could not have it. Your aunts results would only be meaningful to you if you had not been tested (as a reason for you to be tested, not meaning that you definitely have the gene.)

Not sure that helps!

Schoggimonster

Hi cmb35,

Thank you for your answer, but a negative answer can mean different things depending on the test outcomes of other family members. According to the genetic counselor and genetics, id does make a difference. If my aunt were to test BRC1/2 positive, that would mean that I did not inherit the gene (since most likely it was the BRC1/2 that caused all the BC in my mom/aunt/grandmom and greataunt), and that would mean that I would have the risk of just an average women. If my aunt were to test negative, there is a high likelihood that another gene (for which there are no test yet at this current point), and so I still have a high BC risk even though I and my aunt are BRC1/2 negative. It's a bit complicated to explain, but I hope this makes sense... That is why even BRC1/2 negative women are not without risk since there could be other genes causing the high occurance of Breast Cancer in their families! But thank you for trying to answer my question - I appreciate it.

Have a nice day!

Nicola 

Mutd

CMB, I don't think it helped at all. Negative result is great, but Nicola still does not know if there is a detectable BRCA mutation in her family in the first place. Certain rare mutations are outside of the technical capability of the test. There are also rare cases where familial breast cancer is caused by a mutation in another gene (not BRCA). So there may still be reasons to worry about the (unlikely) possibility that her family may have such an undetectable mutation.

If Nicola's aunt takes the test, and if a mutation is found (which is quite probable), then the negative result becomes unquestionable. Because she would know that the mutation was detectable, and she definitely hasn't got it.

 EDITED - oops I see that Nicola replied already! By the way if you search FORCE boards for the words "uninformative negative", you'd see that it has been discussed liked hundreds times. It tells you how important is this question, just how negative is a negative.

http://www.facingourrisk.org/messageboard/search.php

terrie45

my surgeon ask me to ask my oldest sister to be tested for it so maybe there is some kind of connection were missing. confused all of us but she said the oldest will tell all. weird huh. 

scarp

My mom was diagnosed at 49 with BC.  She died at 66, 3 1/2 years ago.  My sister, about 4 yrs ago had calcifications and was considered a neg stage cancer, she is now on tamox.  She was found to be Braca1 & 2 neg.  I had a lumpectomy for a 1.2 cm IDC.  I am Braca 1 -, and brac2  is unspecifed.  I am the oldest.

I would not have needed the test if my sisters califications were staged.

cmb35

Nicola,

Sorry I wasn't helpful, I shouldn't have responded I guess.

I hope you're able to resolve the situation with your aunt in a way you're both comfortable with, and that you make a decision you feel at peace with. It's a tough one, I'm in the process of making it now, but at least I know I'm postive for the mutuation (Weird for that to be a good thing! LOL)

Edited to add: I hope that didn't sound whiny! I didn't mean it to me. Should know better than try to answer a technical question is all!

cp418

You have a very strong family history.  Currently the BRCA testing is the only genetic test available however in the future more genetics may be available for those like you who test BRCA negative but have the extensive family cancer hx.  There is more than likely a genetic link but located on a different gene that is the genetic defect causing these family cancers.  So finding additional information on BRCA for your relatives will not help you who are known negative.  Hope this made some sense.

Schoggimonster

Hi cp418,

Thank you for your answer. As far as I understood from my genetic counselor and genetics, it would make a difference to know the status of my aunt - remember she has had breast cancer, and if she would test BRC1/2 positive it's VERY likely that the breast cancer in my family IS caused by the BRC1/2 gene (and at the same time VERY UNLIKELY that another gene is causing our breast cancer in my family), which would mean that I did not inherit the gene from my family due to my negative status. Genetics is a bit tricky as it all includes probabilities...

 Thank you for trying to answer my question though!

What I really want to know is weather I should ask my aunt to reconsider testing - has anyone been in the same boat as me? It's really tough to bring up, so I am wondering how other people might approach this situation. Thank you for any input!

Nicola 

cmb35

Nicola,

It's a tough call for sure. I thought I was prepared to hear the result of my test, and I can tell you I definitely was not. I am trying to look at it from the perspective of a piece of information I can use to make decisions, but honestly, it has really impacted me emotionally. I guess what I'm trying to say is that it might really impact your aunt emotionally. Is she the type of person who would realize that, and that's why she doesn't want to do the test?

You're in a really tough spot. If it was me, I wouldn't want my aunt to feel like saying no to the test was impacting me or my treatment, but that's really the only way to explain why you are asking her again to get tested. Being Irish, I always think of the worst possible scenario, and think about whether or not I can live with it. So, I guess the worst scenario is your aunt does the test and finds she's BRCA pos. This allows you to breathe a tiny sigh of relief, but leaves her with this worry hanging over her head that she prefered to be ignorant of. The up side of that of course, is that she has useful information, but that is cold comfort if you know what I mean.

On the other hand, you never know unless you ask, and your aunt my be more than willing to do the test now knowing that it would help you, and the family.

I'm sorry you're in this stressful position, it's a lot ot have hanging over your head. Sorry I can't be of help on how to bring it up with relatives. My situation is different, I had to inform them that I was pos for the gene (I'm the first in my extended family to have the test done, at least as far as I know.)

Best of luck to you!

Mutd

Cmb, right on the money this time! Nicola, you shouldn't ask her to get tested to help you. The only good reasons for your aunt to change her mind should be from her own best interests and her immediate family, her children.  Because if the focus is on your benefits, then it's worse than a zero sum game. If she is positive, then your relief comes at the expense of her unwanted struggle. If she is negative, then it reinforces the fear of the unknown genetic danger in both of you. Your aunt's motivation should be to help herself.

Schoggimonster

Hi,

Thank you all for answering!

Yes, it's probably true that it might be too hard for my aunt to face the test outcome - on the other hand she already has been affected by the disease, and I think if she were to truly know some of the advantages of knowing (for herself, as well as for her own two daughters) than she might do it. I just don't know if she really was every explained the reason for taking a BRC1/2 test (her in the US most patients with BC are tested).

It's a bit different for me, I already saw my mom die from the disease (unlike my two cousins, the daughters of my aunt, who still have their mom), so I guess I think everyone should try to do as much as possible to avoid getting the disease in the first place - eg. prophylaxis. 

One of the cousins (one of the daughters of my aunt) did not even come and visit my mom in the hospital so I think many people are really in a DENIAL which really makes me sad - people with end-stage cancer are somehow shunned because they remind people of death and our immortality. I guess I was somehow hurt by my cousin not coming to pay a visit to my mother, especially since her own mother was diagnosed with cancer also. A good friend of mine (the mother of my best childhood friend) just recently died, and I was glad that I was able to pick up the phone and talk to her even while she was in the last stage of cancer (I would have visited but I live a continent away unfortunately).  This were not easy phone calls (and I would have preferred to not call since it is so difficult to face the eminent death of a good friend), but I think my friend's mother was glad that I did not tell her that she'll survive this while she is in the terminal phase, but instead said my good byes to her, and thanking for all the things she did for us.

I am sorry I am rambling on - I guess part of me is still upset that my mom had to die so young. I hope to meet my grandchildren (unlike my mom who never got to meet my son), so I take BC prophylaxis very seriously but then I also am bothered that there is a piece of puzzle that is left because it unfortunately relies on someone else. If I knew what I know now I would have asked my mom to be tested (and knowing her I know she would have done it) so maybe the bottom line is that I realize that a mom does everything for a child (at least my mom), and an aunt might not. Don't get me wrong, I love my aunt, and talk to her often, and she knits the nicest sweaters for my son, but I think if her own daughters would ask her to get tested she would probably do it for them. 

It also bothers me that I am a reminder to my family/friends that BC does kill (I look like my mom) - I can't really change that but it can be upsetting to people. I'd wish my mom stayed a breast cancer survivor but not all do (but never the less she fought a good fight and I am very proud of her).

I really hope that in case you are a high risk women you have a family that is willing to help out the younger generations by getting tested... I do personally if my aunt would get tested it would be very beneficial for her (in terms of prevention of a new BC or OC).

Nicola 

Schoggimonster

Hi CMB,

I wanted to add something to your irish scenario and answer to your response direclty, and I disagree that being positive would be the worse scenario for my aunt (it might be a good scenario for me but I do care about my aunt so it nevertheless would not be easy knowing that she has the gene while I don't have it). Plus, even negative women still have a risk to get BC since many BC patients don't have any previous family histories.

I personally think the worse scenario for my aunt is not to get tested, and then get another new breast cancer or ovarian cancer since she did not do the preventative treatments due to her not knowing her status. Eg. if she is positive, she is positive no matter if she takes the test or not, and not because I asked her to take the test. Sadly, it's still easier to prevent BC/OC than to treat it. As far as I remember, BRC1/2 carriers have an 80 percent chance of getting BC and preventative measures can really cut these risks down.

I also want to wish you the best. I think while it might be difficult for you right now emotionally to face the test outcome, I think in the long run you will be glad that you took the test (and overcome the emotions that you are currently experience), and made decisions, whatever you decided what those were/will be. I wish you good luck! I think taking the test takes you out of the denial stage, and puts you into action-state, and by doing so you do everything possible to prevent BC! I took the test also some years back and while I tested negative, I still remember that it's not easy to take a test (but that does not mean we should not take the test simply because it's difficult). In some ways I wish I'd was positive because I then could really justify some of the prevention treatments - now I myself I am kind of in limbo, not really knowing how high my real risk really is....

Best regards to you, and thank you for your input, 

Nicola

LindaBusEd

Nicola,

Check your PM

Linda

cmb35

Nicola,

Thank you for your response. Clearly, you are a kind and compassionate person. If you weren't, you wouldn't be worrying about the impact on your aunt or how to ask her. I was trying to convey that despite having already had bc (what I thought was "the worst that could happen"), the BRCA pos result was in some ways much more emotionally debilitating for me than I expected. I completely understand your position, and I know that logically, you are right about having the information to make an informed decision. (And I am moving forward to that end, had my ooph this summer, and am having consults about the PBM and recon options this fall.)

To me, it sounds like in your heart, you know you need to ask your aunt again, and explain the benefits.I think you need to follow your heart. It sounds like you have a good enough relationship that if for some reason she just can't do it, you will understand, and she knows that.

And I hope you believe that never for one instant did I think you were being selfish, or not thinking about your aunt and her feelings. Clearly, you would never have posted to begin with if you weren't worried about how to approach her, and the potential impact on her. That was the whole point of your post.

I am having a really tough time right now about my status. Because of me my sister was tested, and she is also positive. I realize logically that this is not "my fault", but our relationship has been strained. As much as she is also realistic/rationale, it's not something she wanted to know about or deal with, and the whole thing has just been very hard on both of us. (Of course, I am TOTALLY pushing her to have the BLM. I don't want her to go through what I went through. Ever. I realize this makes no sense as I am the one that is a single parent, and have not moved forward with the BPM myself. Unfortunately, there are insurance issues involved for me, but that's another whole story in itself!)

Anyway, I very much appreciate your kind words to me. I really am trying to get through all this as best I can. It says a lot about you that you would take the time to wish me well as you are trying to deal with such a sticky issue.

I also wish you the very best. What I really wish for is that wand the doctors on Star Trek had, where they just wave it over you and can tell what's wrong with you, and more importantly, how to fix it.

I know tone is hard to convey in writing, please know that my tone is heartfelt and sincere thanks and good wishes to you.

Colleen

Renata

Those decisions are so hard to make. I was diagnosed this April at 38. My onc suggested genetic counselling due to my age and my family history (2 great aunts and their 2 daughters).I had my appointment today but last week I called to cancel it.

I just don't want to know. If I'm positive I'm not having prophylactic surgery and from what I understand this is the only use of these tests, besides, I don't have children but my brother has two daughters if I tested positive he should be tested too and I'm sure he doesn't want that. When the girls are older I'll talk to them and I'll advise them to have mammograms from an early age. As for me I'll take my chances with recurrence (no recurrence in my family history). Everyone is different.

God help us all.

Ana.

charisamc

OMG... I felt like I was reading my own post.  I am waiting for my cousin to be tested and she keeps saying she will and hasn't gone yet.  She has fought with my genetic counselor over appointment times etc... I really believe she doesn't want to know (already had BC about 12 years ago) and can't tell me that.

My take is this.  I have to do everything in my power to get her to test.  If she does not then I go with what I have and be prepared to live with my decisions. 

Alot of times people truely do not understand the testing and how the results can help you. 

If you would like to talk you can email me at charisamc at gmail dot com.

I would love to talk to someone who is also in my boat.  I am in the planning stages of PBM.  Also had a lump earlier this month... appears begine.

Schoggimonster

Hi everyone,

I really want to thank everyone for their answers - it really helps that I get opinions from all different perspectives! I am so glad that I found this forum and posted my question here!

Yesterday, I have also talked to a real good friend of mine in Switzerland who is a physician (and knows the health system there) and whose mother just recently died of BC (and who fortunately got the test before she passed so my friend knows her mother's status). She told me that in Switzerland many physicians actually don't recommend the BRCA1/2-test, or PBM (even for women who already have a diagnosis of BC). This makes it even tougher for me to bring it up again since how can I convince my aunt who lives in Switzerland to take the test when the medical professionals and the general public recommends against the test? Europeans tend to be a bit more critical of modern medicine. An other aunt (not the one who shares my family with the BC-risk) actually told me that if I was given a diagnosis of BC I should not do anything since it really is tough to diagnose BC (!!!) - I told her that cancer-cells look different under the microscope, and that I would very much WOULD get treated since untreated cancer cells replicate uncontrollably and eventually would take over my body. I think this aunt thinks that I am too occupied with BC, but I am not ashamed of taking my health seriously, and stay a bit more cautious...

Anyway, I have an appointment tomorrow morning to find out about the biopsy result - I'll post my result here tomorrow. But I came to realize no matter if the biopsy is positive or negative, my decisions of what treatments/surgery I should have now/in the future will be tougher, but then they are probably tough for everyone, even if they have all the possible info on their family genetics. 

 Anyway, I guess if someone is reading this who has a mother with BC I would highly recommend that you aks her about possibly getting tested - even is she declines at least you/ve brought it up - I really wished that I asked my mom (and knowing her I know that she would have gotten the test).

I pretty much have decided to bring the test up again to my aunt when I visit Switzerland for the Holidays soon  - at least I will be face to face instead of during a phone conversation.

Best wishes to all of you!

Nicola 

Mutd

Nicola, you wouldn't believe how much friction is there in many families over genetic testing! The naysayers have every sort of arguments, from your aunt's "The doctors speak in probabilities so they don't have an answer, just guesses" to "You are just a whining attention seeker, you don't have cancer, stop acting like you do!" and even to "DNA is God's blueprint, stop doubting its perfection and He will ward off the disease". What's more, sometimes relatives get tested in secret, and never share the result. And when it comes to preventive surgeries, the passions flare up even stronger, sometimes sister stops speaking to a sister and daughter to her mom.

Some of us are blessed with supportive, understanding families, and some struggle to be understood. Genetic risk is like some bad family secret coming to light, so it must be an issue which defies understanding too often...

Schoggimonster

Hi everyone,

I just wanted to let everyone know that the biopsy was negative which is great news :-)

While I am happy about the test result I am a somewhat upset about how I was treated at the doctor's office and disagree with their office policies. First after I had the MRI, I was thinking that my doctor was going to call me with the test result. After I called them to find out about the result, they told me that I need to make an appointment and refused to give me MY result by phone which I would have preferred. After I came on time to my appointment the doctor lets me wait for my result for ONE hour in the examination room - I was about to go crazy in that room. Nobody came to tell me what was going on, or apologize until I went out of the examination room to complain to the office staff (I was told the office tends to run late). The doctor saw me complain, and I think she was upset that I had the nerve to complain, and also did not apologize for letting me wait for an hour. As you can imagine, it's not fun to have a doctor visit if the doctor is upset about me, and things were strained. Unfortunately, I probably will have to switch physicians (thanks god I have a very good OB/GYN who can probably help me find a new BC doc).

I think it should be up to every individual patient to decide if they prefer to get their result from the doctor, or just by phone (in case they prefer to not wait). I am a 38-year old women, and if I think that I can handle positive (or negative) news if I prefer. Especially if they then make we wait for ONE hour (I actually should have known, I had to wait for an hour during my first visit to that doctor also). I am sorry I am bringing this up, I guess I have to vent a bit...

As said, I probably will change physicians since my relationship with this physician is strained and that would not be a good thing if I ever do need treatment. Due to my high risk, I will need yearly MRI's, mammograms, and ultrasounds (yikes), so I probably should find a good physician who is specialized in this area.

 Anyway, despite this, I am happy about the result, and wish you all the best.

Nicola