Sent for BRCA testing

psjzm · February 2009

Hello,

Well I just had a meeting with an oncologist today. He looked at me like I was doomed to the BRCA gene. I had a surgical biopsy one month ago, the only finding was hyperplasia with atypia. But because of genetic history (mom at 49, aunt in 60s, grandmother in 60s) he strongly suggests the testing. I have two daughters. I'm all upset again. I thought I probably would not have testing recommended as the breast cancers were non lethal and relatively late. (not my mother of course she was post hysterectomy, but young) I feel like a real baby whining about this but what good is it to find out stuff early when you still may need surgeries, removals, etc. I am venting. Any experience out there with the diagnosis of BRCA I and II mutations?

Yuck, yuck

samiam40 · February 2009

BRCA negative here. I really wanted the test--my doctor supported me in my decision.

I guess I don't really understand when you say "what good is it to find out stuff early when you still may need surgeries, removals, etc." By finding out that information early, you could save your life. If you end up with breast cancer and catch it before it becomes invasive, you eliminate your need for chemo. If you end up with ovarian cancer and don't catch it at an early stage, it has a frightenenly low survival rate.

BRCA is a simple blood test and if it is not a financial hardship for you, I truly believe your oncologist has your best interest at heart.

psjzm · February 2009

No doubt he does have my best interest in mind. I don't doubt his professionalism or his accurate reflection of the realities. I just am tired of worrying, of having this over my head. I think if I'm honest, worry has been present all my life, just as it has for many women here..who have had mothers or older sisters, etc. diagnosed and knowing there is sometimes a genetic association.

When I had the biopsy, I told my mother in law, "I've been waiting for this all my life". I wish I could have been better about living in the present. Apparently I'll have more opportunities to practice doing just that....I know the appropriate response is to be grateful for all the wonderful advances...so my life might be saved, so I might not have chemo.. Selfishly, peevishly, I sometimes just don't feel grateful. I suppose it's ugly, but it's sometimes a reality for me.

Robby · February 2009

I had DCIS, and MX and still wanted genetic testing -- having two cousins with invasive breast cancer. Although they both told me they were negative, I was able to get my oncologist to recommend it. I also turned out negative --- for the BRCA1 and BRCA2 founders genes (for Ashkenazic Jews such as myself). Then I realized that a more comprehensive test was being offered so I went ahead with that and discovered I had a BRCA1 variant of uncertain significance -- C1372Y. I also found out one of my cousins actually had the same variant (her Dr. told her is wasn't anything so she hadn't bothered to tell me) and the other never had the full test -- once she was negative for the founders genes. I'd like to get my other cousin to get tested for this variant -- even though they probably won't have a basis to conclude if it means anything at this time --- too few samples. However, overall I want to find out all I can about the risk factors my daughters and grand daughters and other cousins and their daughters may be facing. If this genetic variant should turn out to be a dangerous mutation I'll probably go for a prophylactic mastectomy and ovary removal but for now -- I'll up my surveillance. I want to minimize my worries but I also want to maximize my chances of enjoying my family for as long as I can.

Alo123 · February 2009

I'm BRCA 1 positive.....my daughter is 10 and I pray things keep moving forward so she will have an easier time!! It knocked the breath out of me when I got the BRCA results....than wham 1 year later cancer......thankfully I caught it early due to the dilligence of my genetic counselor keeping me on target with my mammos and MRI......information is a good thing...as long as you now what you want to do with it....

psjzm · February 2009

Your course of action makes sense. It's strange. Genetic testing and imaging both give information that may not yet be helpful. There's not enough information yet about that variant you have. Tiny amounts of calcification can now be seen on scan, but we don't always know what it means. You'd think, for example, well I'm not BRCA I or II positive, so not to worry about tremendous risk...but again, not really in all cases. I have read there are 600 variants of the BRCA gene. How will you know if your variant is determined to be a lethal one? How will that information come to you? Are you going to research it on an ongoing basis, or is there some kind of notification procedure?

I'm not writing to discourage anyone from testing-I'm sure I will test too, despite the anxiety. There seems no other logical course. I'm just trying (again) to prepare myself for the possibility-there is no real "safety" in negative findings, while a positive BRCA test likely means invasive surgery. But I suppose invasive surgery reducing risk is better than invasive surgery when you already have a diagnosed cancer?

psjzm · February 2009

Well, good that you did that due diligence. Let me ask you something, if you feel comfortable responding...did you know of a family history of breast cancer before you had the test? What prompted the testing? Would you not have had the other screening tests that the BRCA tests prompted without knowing that you were BRCA I positive? Would you have waited longer between screens or delayed screening without that information?

I'm very glad that your cancer was caught early.

Beesie · February 2009

Usually when BRCA testing is done, if there's a family history of breast cancer it's preferred that someone with breast cancer be tested first. This way, if it's discovered that the person with BC has a particular BRCA variant then when other family members are tested, rather than check for the hundreds of different variants, they will look specifically for this one variant - because that's the only one you could have inherited. So, given this, would it be possible for either your mother or your aunt to be tested before you?

And here's something to keep in mind about BRCA testing - even if it is in your family and your own mother carries the gene, there is only a 50% chance that you will have inherited it. This is one of those genes that we inherit either from our mother or from our father. So if your mother has the BRCA gene mutation but you inherited this particular gene from your father, you will be at no higher risk than the average woman. And there will be no possibility that you can pass the gene on to your children. That's the good side to the testing. You've been worried about this for so long and it could turn out that the result alleviates your worry.

I tested negative. Both my mother (at age 80) and one of her sisters (in her 40s) were diagnosed with BC and I was diagnosed when I was 49. Cause of death of my mother's mother was uncertain (stomach cancer or was it really ovarian?). On my dad's side of the family, there are lots of cases of prostate cancer (which is one of the male risks from the BRCA gene). I'm also Ashkenazi Jewish on both sides of the family. So I had a risk of being positive on both sides of my family. But in the end I tested negative, which was a great relief. I know that there might be other variants yet to be discovered that do indicate that there is a family connection there - and deep down I do think that there is some level of inheritance to my getting cancer - but at least for now I'm a lot more comfortable that I'm not extremely high risk to get BC again.

Anonymous · February 2009

i've been wondering about testing. Although no significant history of BC on mom's side of family, my dad was adopted so wonder if testing would be recommended? When you test, do you do it anonymously as it could have insurance implications in the future?

Deirdre1 · February 2009

Also, my experience with doc's is that they (generalizing here) (the one's I was exposed to) didn't know much about the gene.. my genetic counselor was very equipped to handle the questions I had - not the doc's who treated me for cancer.. And I agree with Beesie, there will be other genes that go hand in hand with history but they just haven't been found yet... I was actually told that my BRCA would "most probably" come back positive because it was my father who had bc.. But the genetic counsel told me right away that with me it was the history of other cancer's in the family that concerned her more than the BRCA gene.. And like Beesie I had relatives die from cancer's that COULD have started as other hormone related cancers but then gone on to other organs as met - no one really knows.. I was so confussed by what my treating doc's said afterwards, and to protect my kids, I had the lab run a check on the test (another $350 out of my pocket) but it also came back negative...

Robby · February 2009

It's my understanding that if Myriad ever reclassifies my "variant of uncertain significance" either positively or negatively, they will contact me -- or at least my genetic counselor. I guess i call Myriad every once and a while to check in.

Emily2008 · February 2009

I was dx with IDC last May at 35 and had a uni mast in August, then chemo. In Nov I found out I'm BRCA 2 pos, much to the surprise of EVERYONE, since I have no family history with the exception of a paternal cousin who was dx at age 53. Lots of women in my family and they've all lived long, long lives (like into their 90's). I was surprised at the results, but also thankful b/c I knew going in to the test that on the off chance I was pos I would have a prophy mast on my "good" side. The chances are up to 80% of another breast cancer, and those are odds I ain't willing to play, KWIM?

So, 2 weeks ago I hade my right breast removed and am knee deep in the reconstruction phase. None of this is pleasant, but I was so happy to have my results. I felt that my life was going to be cut short by either breast or ovarian cancer, and by God' grace, I was given that info so I could do something about it. I've felt like that through this whole thing. I can't ignore the facts, not with so much to live for. FInding out is very emotional--even going through the counseling is emotional b/c it's like Pandora's box. What are you going to do with the info when you find out? Different people handle the testing and results in different ways, and you are certainly not unusual to not want to know. But I would encourage you to talk with people who are in the know, collect your facts, and take the test. I feel we should be very proactive about this. No use hiding from it, though I know on many occasions, I've wanted to do just that, LOL!

I found my cancer when I felt a lump, and I was stage 1. We treated the heck out of it, and I'm glad for that. But there's no telling whether another one would come back nastier, bigger, and more aggressive. Best not to play that hand, KWIM?

Hope this post didn't overwhelm you. Just speaking fromm my genetically mutated point of view!

Daudine · February 2009

I am 38 and BRCA-1 positive. My mother died from a second breast cancer at 64, first one at 51. My aunt died at 42 of breast cancer another one at 38 from lung cancer, an uncle at 51 from colon cancer.

I had my ovaries removed last March and I had bilateral mastectomy with reconctruction last May though I have no cancer. My chances were too high (90% breast cancer and 65% ovarian cancer). I don't regret anything though it was a hard road to take.

psjzm · February 2009

Emily,

Thank you for your story. I am now filling out some forms for the genetic counselor. Along with some of you, I believe that the genetic counselor can give a better idea as to whether the testing would be indicated. It IS a Pandora's box. The interesting thing is that it leads to contacts within my family that I haven't thought about for years. For example, some long lost cousins on my father's side...a half sister that I haven't met,...Hmmm. More to this than meets the eye..or the breast!

For Beesie-my mother is deceased so no option to test her!! My aunt is 80 years old and not jumping up to volunteer...and there's no cousins that qualify (thank goodness.). so I think it's me up to the plate. That's okay.

Most persuasive is that I watched the informational video from Myriad with my older daughter (a very mature 15) and she said, "I want you to do it". I explained that she would have to live not knowing for some years before they tested her..if in fact I'm positive. She said she'd rather know about me and wait.

That may be the clincher.

Sent for BRCA testing

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