Genetic testing for BRCA1, BRCA2 mutations

[Susie]

I've been considering asking my parents to have genetic testing done, to determine whether either of them has a mutation in the BRCA1 or BRCA2 gene.

On my mom's side, my mom herself has ovarian cancer.

On my dad's side, he is a prostate cancer survivor (7 years, woot!). He has no sisters; his mother, his mother's sister, and one of his grandmothers all died of breast cancer. His lineage worries me more.

All three of those types of cancer can be associated with BRCA1/2 mutations, from what I understand. All of those relatives were fairly young diagnoses. Both of my parents were 53 when dx'ed; my grandmother died at 62 (I don't know how old she was when dx'ed.)

At only 30 and still being childfree, it's not that I would do anything now if I found out that they, and eventually that I, have a mutation that would increase my susceptibility to ovarian or breast cancer. But I am aware, particularly with my mom, that I won't always have the opportunity to ask them to do this. My only hesitation with my mom is that when she was first diagnosed, a family friend flipped out about my odds of getting cancer between the two of them (this was on the phone, I wasn't present) and my mom's been touchy about it ever since. I don't know if in any weird way she feels guilty about it...? (That would be silly, but guilt's a tricky bastard.)

In shoes like mine, would you pursue it?

Whose health insurance would I look into for coverage? Mine? Theirs?

If you've done it, was the genetic counseling that goes along with it helpful?

Any other comments?

[315bride]

My mom and I have talked about this extensively. On her side, every woman in my lifetime has had a reproductive cancer of some variety. My dad's mother also had breast cancer. None of them died from it and all lived long lives following. My dad's brother is currently undergoing treatment for prostate cancer.

We are currently gathering the family's medical records to see if there are clues in their diagnoses, etc. My paternal grandmother's records will be the hardest because she got diagnosed in the late 60's but my uncle has said he would look.

My mom has agreed to go get a consult about the genetic testing with me. She has also agreed that she would get tested if I wanted and then I could consider getting tested following her results, what the doctor recommended.

I think my mom's insurance would cover hers and I *think* mine does it as well for me. My GYN has said she would write me a referral if and when I wanted. I just really need to look into the details. I would likely get a mammogram as well this year. Not sure if that affects the timeline of all this.

[Deleted]

I don't see what it hurts to ask. It sounds like you have a good relationship with your mom so as long as you have an open and honest conversation with her about why you're asking, I'm sure she'd be open to thinking about it.

My mom had this testing done a few years ago. She was negative, thankfully. I do believe it was covered by insurance, although I'm not 100% sure. I know that if it wasn't covered by insurance, it wasn't terrible expensive (knowing my parents they wouldn't shell out thousands for something like that). Maybe hundreds.

I think if your mom/parents do have the gene then you can get tested through your insurance, but make sure you have a private life insurance policy prior to doing that or else you'll be in trouble. Actually, I think you probably want to do that before your mom even gets tested. But you probably know that and have a policy anyway (but just in case I figured I'd mention it!).

If it were me I'd want to know. I can't say with any certainty what I'd do if I knew my mom had the gene and that I had it/likely had it but I'd like to have that information so I can make decisions based on that. It is easy to put off kids now but if I knew I was in a high risk situation I might move up the timeline, KWIM?

[drloretta]

I'm not sure what the point would be of asking them to have it done. Testing yourself, sure. But if you can just do that, why ask your parents, since they've already been diagnosed?

Maybe I'm missing something...

[Deleted]

Jul 6, 2012 18:56:15 GMT -5 drloretta said:

I'm not sure what the point would be of asking them to have it done. Testing yourself, sure. But if you can just do that, why ask your parents, since they've already been diagnosed?

Maybe I'm missing something...

I think the person who has been diagnosed is usually the first that gets tested. Having breast cancer doesn't mean you carry the breast cancer gene, but obviously it is more likely so makes more sense to start there. I'm positive that Susie wouldn't be covered by her insurance for genetic testing if her family hadn't already been tested and found to be positive.

Of course she could pay out of pocket, but that's not the usual way of going about this.

[mmp]

They test the person who has been dx so when a relative gets tested, they know the exact gene they are looking for.

Or it will rule them and their siblings out.

I didn't get tested. My sister (who was dx) wouldn't do it. My mom has already died from BC.

My friends tested positive and both have had prophylactc mastectomies. I opted to be highly monitored (MRIs) and take a ton of supplements that are supposed to help prevent BC.

The counselor told me only 5% of BC are genetic. However, if you do have a BRCA gene, there is an 80% chance of getting BC. I am not sure about ovarian.

Let me know if you want the list of supplements.

[Susie]

Jul 6, 2012 18:55:30 GMT -5 @buckybells said:

I don't see what it hurts to ask. It sounds like you have a good relationship with your mom so as long as you have an open and honest conversation with her about why you're asking, I'm sure she'd be open to thinking about it.

My mom had this testing done a few years ago. She was negative, thankfully. I do believe it was covered by insurance, although I'm not 100% sure. I know that if it wasn't covered by insurance, it wasn't terrible expensive (knowing my parents they wouldn't shell out thousands for something like that). Maybe hundreds.

I think if your mom/parents do have the gene then you can get tested through your insurance, but make sure you have a private life insurance policy prior to doing that or else you'll be in trouble. Actually, I think you probably want to do that before your mom even gets tested. But you probably know that and have a policy anyway (but just in case I figured I'd mention it!).

If it were me I'd want to know. I can't say with any certainty what I'd do if I knew my mom had the gene and that I had it/likely had it but I'd like to have that information so I can make decisions based on that. It is easy to put off kids now but if I knew I was in a high risk situation I might move up the timeline, KWIM?

That is a good point. Life insurance is on the to-do list, but not something I've made a priority. It would be a must-do before entertaining the idea of any testing.

At this point we've narrowed down the time frame for kids close enough that I'm not sure this will affect it. I mean, I'm no longer deciding between having kids right away at 25, vs. waiting til 35. Since we're not TTC yet, it's early 30's at soonest. The idea of having children who are only about 20 when I'm my parents' age, and possibly dealing with what they're dealing/dealt with is kind of terrifying though.

[noodleoo]

Wait, if you can get tested, why would you opt not too? Too scary to know? I hope my question does not offend, I'm just curious.

[mmp]

They prefer if the person who was dx first has it done. I wasn't clear why. Something to do with it narrowing it down for them and if the dx person doesn't have it, their children won't--unless they get it from the paternal side.
Or maybe it's b/c insurance won't cover it if the dx person hasn't been tested. Don't quote me, but I think it was $3000 if you pay out of pocket.

I'm in a high risk program at my hospital.

[noodleoo]

Jul 6, 2012 19:51:40 GMT -5 mmp said:

They prefer if the person who was dx first has it done. I wasn't clear why. Something to do with it narrowing it down for them and if the dx person doesn't have it, their children won't--unless they get it from the paternal side.
Or maybe it's b/c insurance won't cover it if the dx person hasn't been tested. Don't quote me, but I think it was $3000 if you pay out of pocket.

I'm in a high risk program at my hospital.

Oh, I see. Why did your sister refuse to be tested?

[DefenseAgainstTheDarkArts22]

My understanding with insurance (although to be honest I haven't put a lot of effort into researching since it changes all the time) is that genetic BC conditions are excluded. I honestly have no idea if that is true or not. If you are tested this will be something you need to disclose on all health and life insurance documents.

Personal story - my paternal grandmother had cancer 7 times. The first time she was diagnosed was in the late 70's so if she had not survived I would have never known her. Her daughter was diagnosed with breast cancer when she was 32 and has tested positive for the BRCA1 gene. My father has had thyroid cancer. On my mothers side we have both skin and tongue/throat cancer

I am of the opinion that when I get BC I hope I am young enough to bounce back quickly. I don't think of "if' I think in "when". I know people say I'm crazy and shouldn't think like that but it is honest.

I guess my point is what do you expect for the testing. If your family tests positive there is no guarantee you'll get it. If your family tests negative there is no guarantee you won't. What are you looking for from the testing?

[mmp]

"Why did your sister refuse to be tested?"

It's not so much she refused to do it, I just didn't push very hard. When the whole thing came up she was in the middle of everything. I didn't want to add to it.

They seem to think there is a genetic component to my sister's and my mother's, since she they had it in both breasts and pre-menapause. Right now they can only test for BRCA 1/2. You can be clear of those genes, but there may be an undiscovered gene that is the cause of it. So even if BRCA negative, there could be some other gene at the root.
Either way, I'm still going to follow the path I am following with the monitoring. It includes exams, diagnostic mammograms, and breast MRIs. If anything were to crop up it would be in a very, very early stage.
I can't say it's not a PIA, and I have wondered in the past if I should just have the prophylactic mastectomies. It has been offered to me by the program I am in. I can see why one of the posters has the "it's not if, it's when" in her mind. Everytime I go to the doctor I say that and they always say, "not necessarily".
I think one of the big benchmarks is ten years before your relative was diagnosed. So for me, it would be 32 (my sister was 42) and 41 (my mother was 51).
Either way OP, I would get a baseline mammogram in your 30s, and see if they will give you a breast MRI. That's how my sister's was found.

[drloretta]

I see. Thanks for the clarification.

Given your relationship with your parents, IMO it wouldn't hurt to ask them. I would think their insurance would be the place to start.

I used to work with genetic counselors, so I can only speak to the fact that they can help tease out the statistics much better than just getting a result and thinking

[Susie]

Thanks for the comments. All of it is a lot to think about!

[hski2349]

My mother was diagnosed with breast cancer in her late 30s and passed in her 40s. I have spoken to my doctor about being tested, and she suggested first speaking with a genetic councilor and going from there.

I am not a strong candidate for testing, but my other concern is having to disclose the results to insurance companies and pre-existing condition clauses if I did test positive. I know pre-existing conditions should no longer be a concern with the ACA, but I am not fully convinced until it is implemented.

[mclovin]

The reason to test the relative with cancer first is to see if there is a genetic mutation. If yes, then yo can be tested for it. So say mom carries the BRCA1 gene mutation, then you can be tested for it. If you come back negative, then you don't carry the same risks. If your mom comes back negative, then you are still considered high risk based on family history. Not all cancers have a genetic component.

And if my sister was diagnosed young, you bet I would encourage her to be tested and I would be as well. If you can have surgery to prevent cancer, it is so much easier than being treated for cancer. But everyone is different and there is no right or wrong way to deal with the situation.

[luvmagoldn]

I thought about being tested but chose frequent monitoring instead.

My dad had prostate cancer (treated), my grandmother died of ovarian cancer in her 80's, my mom and her sisters were diagnosed in their 60's and went through treatment (all doing well so far). Obviously I am at high risk of developing it too.

My GYN and I have been following a plan of action. We did blood work and a sonogram every year until this year when both came back showing irregularities. I had a D&C so the tissue could be sent to pathology. Luckily, all was well. But now we are doing the blood work and sonogram every six months.

We have talked about doing a pre-emptive hysterectomy in my 50's so we will see how that goes (I am 41 now). I wanted my OB to do it after #3 was born but she said it was way too soon to throw me in to early menopause.

All that to say, if the testing is important to you definitely discuss it with your mom. But I would make sure you think about what you will gain from the testing before you do it. I'm not sure I would do it just to have a data point out there. To me, frequent monitoring is more important but I understand each family's history is different and it is a personal decision.

[puppiesandrainbows]

My mom lost both her breasts to cancer. Her aunt lost one breast to cancer. My mom tested positive for both mutations.

Due to my family history plus having fibrocystic breast tissue, I began seeing a breast care specialist at 25. I saw them every 6 months for an exam and an ultrasound. I've had 3 biopsies so far, luckily all negative.

They talked about the genetic testing before, but once I approached 30 they really pushed me to do it, because the results would heavily influence my treatment plan going forward.

I had the testing done in January. It cost nearly $4k, but was 100% covered by insurance minus my deductible. Based on my family history, if positive my chance of breast cancer was 65%, and my chance of ovarian cancer was 17%. I had already decided that if I were positive, I'd have a pre-emptive mastectomy with reconstruction.

It turns out I'm negative, which shocked me, I was sure I had it. However I'm still at a bit of higher risk. I just had my first mammogram, and it did find abnormalities in my left breast. I have to have a follow up mammogram next month to see if there's been any changes. I'm 31 yrs old.

[puppiesandrainbows]

So long story short, while the testing was definitely important, the routine screening is even more important IMO.