Ashkenazi Jews and BRCA 1 and BRCA2 - what are we to do?

Parent Cafe
1

I haven’t been on here in a while but heard something on NPR and then did some research and found more information online and now I am in a panic mode and frankly am not able to function much… Yes, I do have a huge anxiety problem and tend to obsess over many things and I’ve been excoriated on this forum before when people who don’t have these conditions just couldn’t understand or relate. Would like to ask for some sensitivity if possible.

Here are the articles I am referring to:
http://www.npr.org/sections/health-shots/2015/09/22/442343578/surgeon-seeks-to-help-women-navigate-breast-cancer-treatment
and
http://forward.com/news/205502/should-all-ashkenazi-women-get-tested-for-brca-gen/

and I am sure there are many more.

I consider myself to be pretty informed about these things but I hadn’t realized how much more prevalent these mutations were in Ashkenazi Jews, a group I belong to. I also hadn’t realized that just being one is a risk factor, for some reason, I thought that these mutations would show up as having a family history and the disease showing up at an early age.

I don’t have a family history of these diseases or at least not that I know of. Both my mom and dad were the only children so the family is not that extensive.

What are we supposed to do now? Neither my primary nor my gynecologist have never ever asked me about my family history and never asked if I belonged to this high risk category, don’t know why… so am I to talk to them, schedule an appointment with a genetic counselor? What have others in the same group have done or are thinking of doing?

Emily.

2

First off, deep breaths.

If no one in your family has ever developed breast or ovarian cancer, your odds of having the BRCA mutation are low (though, of course, not impossible).

I am also of Ashkenazi heritage and a known carrier of Tay-Sachs so I understand what it’s like to have a population-likely mutation.

You are welcome to make an appointment for a genetic counselor to have the test for the BRCA mutation. You will likely not be considered high risk and thus your insurance will likely not cover it. Without insurance coverage, it can be very expensive but that will depend on region and it will be up to you whether or not that’s a cost you can afford.

Do you have daughters? If so, you need to think about how much you’re willing to tell them as this will likely affect them too if you have the mutation.

3

Agree - calm down. I have the same heritage. My mother, father, and father’s two siblings are all alive and in their 80’s. I do not plan to get tested.

You have to consider what you will do with the test results. My sister-in-law had the test, I guess results were bad, as she had her ovaries removed and then a hysterectomy at the age of 54. She recovered well - but that was a bit to go through.

4

My husband is of Ashkenazi descent. As a result, he and all three of our kids have Factor XI Deficiency, a bleeding disorder. I have also read that people in this group have a higher chance of getting schizophrenia, which my son has. I kind of wish I’d known this before we had kids. I didn’t know about the BRCA mutation being more common in this group. I will have to tell my daughter, I guess.

5

I am also an Ashkenazi Jew with no history of breast or ovarian cancer in my immediate or very large extended family. I get a mammogram every year (I am 58) and a Pap smear every year.

I find it peculiar that your gyno hasn’t taken your family history. At the office I go to I have to fill out a history form every year when I go for my annual checkup.

If you know you get anxious over things like this I suggest not researching on the Internet.

6

I’m an Ashkenazi Jew, and my maternal grandmother died of breast cancer at 58. My mother died at 52 from injuries suffered in a car accident, so of course there’s no way of knowing whether she would eventually have gotten it. (She had a scare a year or so before she died, but after a biopsy, it turned out not to be cancer.) I am now older than both of them ever were. I hate to think that women like me are vulnerable to that particular disease, but it’s been known to happen. I’ve been really delinquent about getting annual mammograms (it’s been about three years since I last had one), so I suppose I ought to remedy that. Although part of me tries to talk myself into believing that I don’t have to worry, since I’ve only had breasts for about 15 years! Then again, I’ve been on HRT for that whole time (but only estrogen, not with progesterone), so who knows? It’s not like there have been all that many long-term studies of women in my position.

7

^^^
No @DonnaL, not many studies of women with your experience, but there is definitely a correlation between female cancers and estrogen dominance. As someone who had endometrial cancer a little over a year ago, it was made clear to me that, if I want to continue to take estrogen (I had a complete hysterectomy) to help with menopausal symptoms (symptoms seems like such benign word for what I had!), then I needed to supplement it with progesterone, which I do.

Lots of doctors out there will out and out tell women who have been treated for various gynecological cancer (and are at risk for other GYN cancers) that they absolutely cannot take estrogen. The majority of my doctors who have weighed in on it have told me they are leaving it up to me - that they can’t walk in my shoes and live with the symptoms I was having. And there are studies out there that show taking BHRT (bioidentical hormone replacement therapy) is much less risky. And yes, I am on BHRT. If I had an increased risk of GYN cancer but wanted to be on HRT, I’d make sure it is an estrogen/progesterone combination.

8

@emily0722

In addition the BRCA I and II, there is another oncogene mutation that is more prevalent among Askenazi Jews (and others of Eastern & Northern European heritage). It’s CHEK2. CHEK2 is associated with an increased incidence of breast, prostate, colon, thyroid and kidney cancers and osteosarcoma. It may also increase the risk for ovarian cancer but that is still under review.

http://ghr.nlm.nih.gov/gene/CHEK2

The mutation prevalence among Askenazi is 1 in 80/1 in 100.

If you decide to go for genetic testing, ask to be tested for all oncogenes (currently there are tests to detect about 30 oncogenes) and not just BRCA. Full testing is important because a CHEK2 mutation carries specific treatment and prevention recommendations, including the extreme inadvisability of radiation therapy and even routine mammography screening. (Ultrasound is recommended instead.)

9

OP:

I am also an Ashkenazi Jew with no family history of Breast Cancer. The Doctors say that most women these days, Jewish or not, will be the first in their families to get Cancer and that most do not have a family history of that Cancer.

I have a mammogram every year, like clockwork. For me to remember when to go, I always have it scheduled around Valentine’s Day. They even schedule the next one for the following year at that appointment. Same with OB/GYN apps. and pap smears. Be diligent.

I WAS diagnosed with Breast Cancer 6 years ago, Feb. 2009. My older son got his driver’s license the same day I was diagnosed. I was in the middle of planning my younger son’s Bar Mitzvah, to be held 3 months later in May. BECAUSE I went for a mammogram every year, they caught it early. It was called Stage 1 infiltrating Carcinoma. Stage 1 is early enough that it did not enter my lymph nodes. I was also very lucky to have two back to back lumpectomies (they also found a second Cancer growing very slowly on my breastplate called Lobular) and Radiation, but NO Chemo! It was early enough. I was tested for BRCA at that point. The results came back negative.

The point is to be educated and to then act. Be proactive and learn what you can ahead of time. Information that you gather will help you make an informed decision about your care, IF something should happen to you. Many insurance companies do not pay for the BRCA test…unless it’s medically necessary, not just voluntary.

By the way, it seems as if more women are getting Breast Cancer these days OR maybe it’s because they are catching it much earlier in women. Whatever the case, this is not something to be worried about especially once you talk to your own Doctors. Hopefully they will set your mind at ease.

10

I recommend you go see a genetic counselor. There are genetic counselors that specialize in cancer genetic counseling, and they would be perfect for your situation. For some, just being highly anxious about their cancer risks is enough for a referral, but being of Ashkenazi Jewish ancestry is a fairly common reason (in the genetic counseling world) to be referred–often for cancer genetic counseling, but many also get referred for prenatal cancer genetic counseling or preconceptional genetic counseling, among others.

Genetic counselors (good ones, at least) are a fantastic resource for a situation like yours. They are experts on genetic tests that are available to you and have experience with managing and working around insurance companies (genetic testing in general is expanding rapidly and is relatively new, so insurance companies have very varied policies regarding them). There are lots of different options with the genetic testing that would be available to you, and they can walk you through each one so that you get exactly what you want and no more or less. For example, it’s possible to receive genetic testing solely for the three mutations in BRCA1/BRCA2 that are more common in the Ashkenazi Jewish population (in response to the comment above about insurance coverage, even if insurance does not cover anything, this test is often MUCH less expensive than other genetic testing and may be do-able to pay out of pocket, depending on your situation). It’s possible to have a genetic test that reads through the entire BRCA1/BRCA2 genes to look for ANY change. It’s also possible to have a genetic test that reads through genes that confer relatively well-known and high risks for breast or ovarian cancer, and there are even more expansive panels that include genes that confer moderate risk for breast cancer (and these genes often do not have guidelines for what to do if you have a change or mutation). They will be able to tell you if any genetic testing is indicated, what tests are available, what your insurance is likely to cover and how much it will cost if your insurance does not cover it, and what testing is right for what you want.

In addition to knowing about what testing is available, they are trained to help you find the testing that is right for you (and if they don’t do this, you might want to find a different genetic counselor). It’s not always one-size fits all. They will take a detailed medical family history (as well as collect information on your own personal medical history), and put it all together to discuss what your own personal cancer risks are. There are models which they can us to give you numbers of your risk (the models all have their pros and cons, but for some people having some sort of numerical estimate can help them understand what is meant by “high risk” or “low risk”). They can also talk to you about what you want from genetic testing, and tell you the pros and cons of getting testing. They can walk you through what would happen if you have a change (or “mutation”) in gene that gives a high risk for cancer, what would happen if the test did not find a mutation, and what would happen if they found a “unknown” change whose meaning was not well-understood (which can happen, depending on what test you get). I think most importantly they can tell you the benefits and the limitations of genetic testing. A lot of genetic testing gets oversold on what it actually means and what it can tell you, and a lot of people are surprised how complicated and uninformative it can get. They can talk to you about whether or not you want genetic testing at all, and if you do, they’ll help you figure out what test you want. And (also, very importantly) they will be able to help you interpret what your test results mean. If everything comes back normal, that doesn’t mean your cancer risk is 0, and if it comes back with a mutation in BRCA1/BRCA2 or any other gene, it does not mean your cancer risk is 100. They can also tell you how genetic testing could impact your personal life and the life of your family members. There are lots of factors that come into play.

So that’s a long way of saying–I think seeing a genetic counselor would be a good idea. Doctors who don’t have a lot of experience with genetic testing or who aren’t trained in genetics may handle the testing inappropriately, not fully explain what your getting yourself into, or order an inappropriate test. Genetic counselors are trained in genetic testing and the intricacies of it, as well as the skills needed to determine how valuable the test would be to you, explain what the test is and what it can and cannot tell you, help you decide what you want, and help you get it if you need it.

Feel free to PM me if you want more information or have questions about the process. I have friends and family who went through the genetic counseling process and feel fairly strongly about it’s value, particularly with people who have a history of anxiety around health-related issues.

11

baktrax:

I never went through Genetic counseling, so I really have no knowledge of it or how it works. However, a friend of mine did. Her mother died of Breast Cancer at age 59. She is in her late 40’s now. Because she went through Genetic counseling, she was able to ascertain that she has a whatever percentage change of getting Breast Cancer. I actually think it’s worse to know that information ahead of time because she is grappling with having a double mastectomy now, with healthy breasts in anticipation of what may happen down the road. For me, it was caught so early, I still have both my original breasts and did not need a mastectomy.

12

Given your admitted anxiety related to physical disorders, I agree with the advice to get tested. You’re just going to stew about it anyway. You might as well get tested and either be relieved or at least know your risks and the options available to address the situation. In this case, forewarned could well be forearmed.

13

teriwtt, thanks. My recollection (without looking it up again) is that the risk of breast cancer is somewhat increased when one uses estrogen plus progesterone, but that most women shouldn’t use estrogen alone because it increases the risk of ovarian and endometrial cancer. But since I have neither ovaries nor a uterus, estrogen alone is supposed to be safer for someone like me.

14

They are often catching it “earlier” but that’s not necessarily a good thing. Many people will have cancer of some sort in their lives that never affects them. However, when people are diagnosed with cancer, they’re often put into treatment (by their demands or the doctors’) that is far more detrimental than the cancer itself.

I absolutely second others who say that you should stop googling this and talk to your doctor, given you’re prone to anxiety (and I get it- I absolutely am, too!). There is a lot of information, good and bad (mostly bad) out there that can increase anxiety considerably.

Best of luck, OP, and I do hope you find answers- one way or another.

15

Thank you everyone for your responses…
To answer some of the questions, I have one child - a son - so no daughters.
To be fair, I have probably filled out some sort of a standard family history form when I first started seeing both my doctors but that was years and years ago and since then, there were no discussions about it and I didn’t know to bring it up.
As far as testing, I am so torn that I seem to go from “I don’t want to know, I’ll just keep going for regular mammograms” to " I need some certainty, I can’t live like this with this sward of Damocles hanging over me"…
Baktrax, I’ll pm you…

16

Emily, for what it’s worth, even if you’re not sure that you want the testing, you can go to a Genetic Counselor. They are trained as counselors and not just as test technicians. They can go over your fears and give you individual advice rather than the generic advice you’ll find online.

Just from personal experience, I went to a genetic counselor quite young when my dad found out that he was a Tay-Sachs carrier. We had a family meeting along with my older sister and we made the decision to go together to get testing. We were presented with a variety of options but personally decided that we wanted to know and get it over with. Tay-Sachs is different because it won’t affect us, only our kids (possibly), but the basic set-up of going over options before any kind of testing is the same.

17

I also did the Tay-Sachs test when a cousin, pregnant, had that diagnosis. It was a relief to know I wasn’t a carrier.

18

If you have any concern at all, why not get the testing done? Certainly, check out whether your insurance company will cover it, if not, decide if it is worth the cost. At least know your options. If I have any concern about ANYTHING, I get tested for it (to the annoyance of my GP), and pay for it if I need to. Why worry, just find out the facts.

19

Has anyone gotten a new life insurance policy recently? Are they asking about genetic conditions?

It’s my understanding that known genetic carriers are protected from Employment and health insurance discrimination, but not from discrimination for life insurance, long term care insurance, or disability insurance.

20

Re #14

Be aware that BRCA1 and BRCA2 increase cancer risk for men as well (so your son may be concerned if he has either). Risk increases for prostate and breast cancer (yes, men can get breast cancer); BRCA2 also is associated with other cancers.

Any family history of male breast cancer should be of concern to women and men in the family.