I had a bit of a shock yesterday & wondered if anyone could help with my queries. I had BC nearly 10 years at the age of 40 & all appears to be OK there. However I encouraged my sisters to get screening & now my youngest sister was offered genetic counselling as we are also Ashkenazi Jews who have a higher risk of having the cancer gene. I realised that it would be me that would have to have the test but I agreed as I thought that it would help my sisters get better screening - they are 41 & 48.
When I spoke to the unit at Barts, this is where my sister went, they said that I had to have counselling too before taking the test as I needed to understand the risks of Ovarian cancer & more screening for me. I was really shocked & am now quite anxious over what to do as I wasn’t aware that knowing that I had the gene, IF I do have it, means that I have a higher risk of getting another cancer else too. When I recently mentioned to my breast surgeon that I would be having the test he implied that it would make no difference as I already get adequate screening for more BC.
This whole issue of possible Ovarian Cancer & the implications of having the test is really worrying me.
I realise that I will be having counselling but I’m one of those people who like to understand everything.
I now what you mean - you’re damned if you dont and damned if you do! I have been referred to a genetic counselling because by son had cancer as a baby and there is thought to be a link. They are looking for a faulty gene, probably carried by myself and my son which may show up that we are more vulnerable to certain types of cancer I am not particularly worried about myself, but if my son is shown to carry this gene, I will be constantly worrying that he will develop something else (I do anyway about his health). However, I like you, need to know and dont want to live in ignorance but I know it will cause great concern. I think having the facts in front of you gives you choice - you can opt for regular screening for ovarian cancer and be aware of the risks should they apply to you. There is no easy solution but for me I want the tests doing.
Hi ive just had my letter saying i will be made an appointment for genetic councelling shortly, it has really made me have a wobble. does anyone know what they actually tell you in these sessions?
Anna
The counselling sessions prior to testing are very helpful, and I would urge anyone referred to a genetic clinic to take advantage of this. As little or as much detail as you want can be covered, and it’s useful both from the patient point of view (do we really want to go ahead with testing?), and from the clinic’s too.In our case I was diagnosed with the BRCA2 gene misprint, and unfortunately both of our kids and several cousins have also discovered that they too have the misprint. But without exception, we are all glad that we’ve taken the test.We are now much more knowledgeable about the risks we face and have been reassured that we can contact our clinic at any time, should we have any worries.
Genetics is a fascinating area, and so many advances are being made, that I take great comfort from the fact that things which may worry us and put us at risk at the moment, are being studied and worked on. So, although if diagnosed and we have major issues in our lives, a lot of progress is being made, and that’s a huge comfort.
Anna-try not to worry too much about your initial session-it’ll likely be quite a general chat about it all,with specific reference to the affected members in your family. They won’t offer to do the test at that point-in fact you may require a few sessions before you feel able to make the decision to be tested-or not as the case may be. But the first session will be a good first step for you, and help you understand a little more about it all. Good luck!
Very curious. I’m having the test as I’m 33 and already had 2 types of BC (both found at the same time, both same grade but different on the hormone responsiveness). Because of the 2 tumours and being under 35 they suspect that I may be higher risk of BRCA1/2 than most even though the number of BC patients who do have it is something like only 5%.
Counselling wasn’t mentioned or anything just straight into see a very nice geneticist and bloods taken. My mum think there may be Ashkenazi jew back on my Dads side of the family.
We did briefly discuss the increased risk of ovarian and bowel cancer, and she also explained that there’s different point of view as to what the risk actually is so you’re unlikely to get told your risk of ovarian is x exactly. But it is higher if you have it. I don’t think anyone wants to find out they do have that misprint in their genome but at least there is preventative action we can take if that turns out to be the case.
At 33 I fear going through the menopause hard and fast next year but that may be the best way to go for me if the results come back as having the gene.
I wonder why no one mentioned counselling to me. Everyone seems I can cope with anything information wise, so much attention to the body while the poor mind goes stir crazy… mad isn’t it.
Annmarie, I feel dreadful that the kids have inherited this gene, and wish there was some way I could have prevented it. But there isn’t, and so we’ll do everything we can to help/minmise the impact this has on their lives. And for this reason alone, I’m glad that we went ahead with testing.
The clinic won’t tell anyone your results.It was hard to have to contact all family members with our news- for example, I had had no contact with some of my cousins for many years, and to have to contact them with news like this was hard. To be honest, I wimped out slightly by writing to them in the first instance-so I could say clearly what I needed to say, and so they could read the letter as often as they needed. I told them to phone me at any time, if they wanted to talk about things further-and they all did, the following day! I had no idea how any of them would react, and was worried about upsetting them.Interestingly, all of the female members of the family wanted to be tested, but of the males, only our son went ahead and took the test! I also asked our clinic to draft a general letter about genetics, which they were happy to do. They also gave me a pile of leaflets from the BSHG(British Society for Human Genetics), which I included with my letter to my cousins, which were very helpful.
Vertangie-am amazed that the geneticist took bloods at the first appointment. Certainly our clinic is very firm on insisting that the patient goes home and thinks through the next step. As they said to me, “once you have the information, you can’t forget it”.My cousin’s clinics have done the same.At the time we felt they were being ultra cautious, but realise now that insisting we give it further thought was very sensible, and I’m really sorry that you weren’t given the same level of support.
I’m sorry that you’ve had this shock. I discovered the Ashkenazi bc link shortly after being dx and suddenly I was faced with the fear of an even higher lifetime risk of bc and ovarian cancer. I met a geneticist - I wouldn’t call it “counselling” myself - who interpreted my diagnosis & family’s history of cancer (not very much of it) in line with the behavioural patterns of BRCA1/2 and calculated my likelihood of carrying any 1 of the 3 Ashkenazi BRCA1/2 mutations as being 30%. A blood sample was taken at my first appointment and the results came back within a month (only 3 mutations to look for). I tested negative. The result influenced my decision not to have prophylactic surgery on the other breast.
At the appointment the geneticist explained the increased risks of cancer for BRCA1/2 gene carriers and for those with the Ashkenazi mutations. There are different degrees of probability of ovarian/bc depending on where the Ashkenazi mutations appear (i.e. in BRCA1 or in BRCA2 - as there is different behaviour within these two genes), so it’s not as straightforward as someone saying that you have an increased cancer risk of “x” percentage just because you are of Ashkenazi descent - you need to have the gene mutation. The geneticist will look at where your family is from and put it into context as there are regional variations, and will give you an indication of your baseline risk for having these mutations given your personal & family history of cancer. They will put this in writing for you, so you don’t need to worry about trying to note it all down when you’re there.
I hope this makes sense (genetics is very complex) & I wish you the best of luck with your test.
Please please read my post and … my mum was diagnosed with bc when 46 yrs of age and died a year later.My maternal aunt had ovarian cancer at 35 yrs and died within a year. I registered myself with family history clinic. NHS DID NOT OFFER ME GENETIC TESTING FOR COMMON BRACA MUTATIONS AS I DID NOT HAVE LIVING RELATIVE WITH BREAST CANCER. THEY ASKED ME TO HAVE ANNUAL BC SCREENA AND annual ovarian cancer screening.I am a healthcare professional working for nhs.INSPITE OF MY HAVING A YEARLY MAMMOGRAM I WAS DIAGNOSED WITH BREAST CANCER LAST YEAR.THE TRUST WOULD NOT GIVE ME MRI SCAN. i AM NOW FOUND AFTER THE DIAGNOSIS AS POSITIVE FOR BRACA1 ASHKENAZI MUTATION.PLEASE BE PROACTICE. if consultant says annual screening is enough I dont think so. If you see american NCI guidlines, for high risk family history specially where breast density is high,mammogram may fail to show the tumour and mri is necessary.I got my ovaries and tubes out due to high risk of ovarian cancer.
I had a full hysterectomy and ovaries removed less than 6 weeks ago, and it really isnt that bad, yes the hot flushes can be hard to cope with, and i wouldnt advise anyone to make a quick decision about it, but for me in my situation, it was the best thing i could have done. i feel so much better already. Im 36
That’s good to know if it does turn out to be my fate to have one of those genes. having 2 tumours developing at the same time does make some kind of genetic mishap more suspicious so I am half expecting it.
My daughter who is 34 and pregnant has been told she does not need extra screening[ie any before age 45]because I was over 60 when I got bc as was my maternal aunt[dx at 75 dead 2 years later].However one cousin dx at 49 died 6 years later and another[unrelated]cousin also dx over age 60.This sounds like a pretty big basis to invesigate genetics.At the moment she is happily pregnant and enjoying her life with lovely husband and toddler.Should I push?Ask for a test myself[been refused pre dx]?Just leave it alone,hope I survive and she just gets usual tests in 11 years?Advice please.Valxx
Hi Val,Could she push for mammograms starting earlier than usual e.g. 40? My Mum had BC at 54 (going stong now at 75) and I asked my GP to refer me for a mammogram every 2 years since I turned 40. They didnt test for Her2 in my Mums day, but both if us were ERneg. This, apparently makes it very likely that it is genetic. She is an only child and I have no sisters (3 brothers) so we dont have much of a family history - surrounded by Men!I would not have thought of being tested for the gene(s), but now that I am a ‘card carrying’ member of the BC club and have a 16 year old daughter, I have asked to be referred for testing.It might be worth you getting the test, on a positive note it might be good news.Wishing you WELLKatie x x
My paternal grandmother died from ovarian cancer age 69 and some years later her sister died of breast cancer. I was diagnosed stage 4 breast cancer at 44. With just these 2 known relatives I asked about genetic screening and was referred and had my bloods taken. I’m neither BRCA 1 or 2 but my sister was offered and took up ovarian screening and yearly mammograms, she’s in her 40’s and my daughter will be offered screening from her early 30’s. An unexpected outcome after the gene testing was my mother was diagnosed with advanced ovarian cancer 4 days before she died aded 70. Her father had died from prostate cancer aged 69. Just adding this post as we or our relatives can still be offered screening even if we’re not found to have either BRCA 1 or 2. My sister has now had her ovaries removed and I too have been offered ovarian screening.
xx
I am of Ashkenazi descent also, BRAC1 gene carrier. I have been recommended for ovarian screening or ovaries removed, I am waiting for my referral. I am not really bothered by this increased risk, as I am told they can remove ovaries by keyhole method, I have a 15% increased risk of ovarian cancer which is still a highish risk. I had invasive ductal BC grade 3 with lymph node involvement eight years ago. Still here…
I was also diagnosed with breast cancer at the age of 40 which is nearly 14 years ago and have found out in the last couple of months that I’ve got the BRCA2 gene.
I hope things have gone forward for you and that you’ve had the genetic counselling. It is really important to have it as they build up your family history and also tell you of the risks that may affect your extended family. I’ve had two ‘counselling’ sessions - they’re not counselling sessions in the true sense of the word but more of an information gathering session and making sure you are aware of the consequences of going for the test.