My mom is in chemo for breast cancer. She has just informed my sister and brother and me that she is a carrier for the BRCA2 genetic mutation, which is a marker for increased breast cancer risk (as well as increased risk of other kinds of cancer too).
The next step for me and my siblings to be tested to determine whethe we have inherited this mutation.
Anybody out there have this sort of gene mutation with increased disease risk? What if anything are you doing about it? And if you don’t mind sharing, what has been the incidence of disease in your family?
My mother was originally diagnosed with breast cancer 3 or 4 years ago. Along the way she got tested along with her sister and mother for BRCA1 and BRCA2. IIRC, they all tested positive for BRCA2 (and all have had breast cancer). Both my sister and I are aware of this and we plan on getting it checked out. It’s one of those things that I know I should do but out of fear and ignorance I’ve delayed for the past year.
Even before getting the results back, we knew we were at a higher risk for cancer based on my mother’s side of the family. As such, my sister has gone vegetarian and I’ve cut a lot of unhealthy things out of my diet. Ultimately, it may not reduce the risk of cancer but it’s hard to ignore the other benefits.
Can’t comment on the medical side except to opine that you should definitely find out - it’s worth it to know about it so you can be monitored more aggressively, and also perhaps take preventive steps as appropriate.
I’d look into what your state mandates re privacy and how the information might be used against you. For example maybe buy more life insurance before you get tested because it might be harder to get afterward. One article discussing those concerns.
I’m at high risk because my mother had breast cancer (twice; the last was stage 4 and she died of related problems in August), and my younger sister had a double mastectomy at 39. I had the test done and it was negative. Before finding that out though, the doc (a breast health specialist) told me that if I was positive, there were a number of options, including mastectomy (which I personally would not have gone for). Careful monitoring was the most important thing. Careful, frequent checks of the breasts, mammogram, ultrasound and MRIs. Also you have to be very careful about ovarian cancer. People with the genetic BRCA mutations (and people who have had breast cancer) are at higher risk for ovarian cancer. My sister who had the cancer is trying to get her insurance company to pay for her genetic testing; if she’s positive, she’ll probably have her ovaries removed.
You should get tested. It’s very easy. I had the bloods drawn at a lab and just put the package into a Fed Ex box to Myriad Labs, I think in Utah. I got the testing kit from a genetic counselor, who had to call the insurance company to explain why I needed the tests. The results were back in a few weeks. I still have to be careful, of course, with 2 close family members having cancer at relatively young ages. I’m going off estrogen birth control, because estrogen can increase your chances of getting breast cancer.
My sister’s oncologist hinted (without coming out and saying “don’t do it”) that it’s better not to be genetically tested, because once you know, you can never tell insurance companies for life insurance (as well as private medical) that you were unaware you carried the mutation. Our mother, her sister and my sister have had breast cancer. I assume cancer is in my future. What’s the point of doing the genetic test? In the case of my sister’s daughter, her mother, grandmother and paternal gransfather have had breast cancer. Though she’s only 16, she knows that there’s a good possibility she could get it, too.
There was a really good article in my doctor’s office about two cousins with breast cancer in the family. One got tested, was positive, had a prophyaltic double mascectomy and then had a hysterectomy for good measure. She was very happy with her decision (and her implants were very nice - though I’m not an implant fan). She thought her cousin was crazy.
Her cousin thought she was crazy - cut off perfectly good breasts! She didn’t get tested, but given family history was being treated like she was positive - two or three mammograms a year, plus sonograms - she’d doing the dietary thing as well, keeping weight down, doing everything to cut risk in other places.
The upshot was each woman was sleeping fine at night - the one who had the mascetomy wouldn’t have while something she was certain was going to turn on her was attached to her chest. The other seems to be able to cope with “it may come, or it won’t - but no reason to do something so drastic since I’ll catch it early and have a good prognosis with that approach.”
I’m sorry for your loss, Ceejaytee, and I thank you for your wishes for my mom’s health.
With an identified mutation in my mom, I am definitely getting tested. It’s a less expensive test for me than it was for her. She (well, her insurance company) had to pay for the @ $3800 test to search for the most common BRCA1 and BRCA2 mutuations. But now that they know the mutation placement for her, they just have to look at that same gene for me, my sister, and brother. So the tests for us will only cost about $350 each. The question of whether we will ask insurance to cover it is a good one, given the issue of “genetic discrimination.”
But personally I can’t see that concerns about insurability would outweigh the healthcare value of knowing whether I’m BRAC2+ or not. I realize that’s a choice everyone will make for themselves, but for a doctor to discourage testing because of insurance concerns strikes me as irresponsible. But maybe that doctor was talking about a situation where the patient does not know if there’s any familial genetic anomalies or not? My situation is different from that. I know that because my mom is BRCA2+ there is a 50-50 chance that I have that genetic mutation as well. I definitely want to know. There are things I can do if I know; not knowing would just feel like walking around with an ax over my head for the rest of my life.
Well, if I know I am BRAC2+, then I have to consider options that might keep me from developing cancer. I could have my ovaries removed – which I probably will, once I’m sure I’m not going to use them – or my breasts removed. Would I go for breast removal? I honestly don’t know. I also will be able to justify to my doctors more aggressive monitoring for cancer concerns, which includes not just more frequent mammograms but also MRIs, as well as screenings for other types of cancer that they wouldn’t otherwise screen for at my age – like colon cancer.
I’m not trying to get in your business at all, but if you assume cancer is in your future – as I do as well – wouldn’t you want to take whatever steps you could to either prevent it or at least to detect it at the earliest possible point?
The conundrum from the perspective of the insurance issue, is that I can’t justify “high risk” monitoring and/or treatment without revealing to my insurer that I am BRCA2+ (if indeed I am). And if I don’t tell them I’m BRCA2+, they are not going to know why I need anything other than a yearly mammogram – and they aren’t even 100% on the yearly mammogram, since I’m only 38.
I’m fortunate because I have good insurance as a public employee. My insurer could not discontinue my insurance even if it wanted to. And as a single person, qualification for life insurance is not really a big deal to me. I realize other people are in different situations, of course.
Jodi - My family sort of assumes there’ll be cancer - that’s just how it is. My mother is one of 11 kids. 6 have had cancer (2 breast, 2 two colon, kidney and brain tumor, plus some other like my mother). My mother’s had cancer twice (breast and uterine cancer while she was carrying me). My father was a non-smoker who died of lung cancer. My first cousin also had kidney cancer. My 25 year old nephew had thyroid cancer this past year, as did my sister with breast cancer. Two cancers for her in one year. It seems better to assume you have the gene than to not. Not that I take all that great care of myself. But I do get mammograms.
Apparently, even if you’re tested independantly, if you’re asked a pre-screening question and you lie, and the truth comes to light when you do have some sort of catastrophic illness, the insurance company can withhold all benefits. For me it’s not worth it.
Missed your post the first time.
I guess I’m not that concerned to live a very long life anyway. Somethig will kill me, it doesn’t matter too much if I’m 50, 75 or 90. I try to live a relatively healthy lifestyle, I don’t drink or smoke or have high cholesteral. I watched my dad died of cancer - I’m not saying it’s a romantic death, because it isn’t. But in the great scheme of things, what difference does it make?