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Genetics and inheritance 2: BRCA mutations

Mutations on the BRCA1 and 2 genes can lead to an increased risk of developing breast cancer or ovarian cancer. These genes are inherited in an autosomal dominant manner; someone with the mutation has a 50% chance of passing on the mutation to their children. Three specific Founder Ashkenazi mutations have been found which together are ten times as common as BRCA mutations overall in the general population. An estimated 1 in 40 people of Ashkenazi Jewish descent carry one of these three mutations (Jewish Genetic Disorders 2010). These account for the majority of BRCA mutations in affected people from the Ashkenazi Jewish population. Because of this increased risk, women without a personal history of breast cancer, but with a history of cancer in their family and who are of Jewish descent should be referred for specialist genetic counselling and advice. If there is a known genetic mutation already identified, then a referral to a genetic specialist is advised. The genetic specialist will advise on whether and which testing should be considered. In addition the specialist clinic may consider whether any extra screening tests (such as mammograms or MRI) should be offered, and also whether any kind of preventative treatment might be considered, such as surgery or medications, to reduce the risk of developing breast cancer.
 

Caroline was tested for the BRCA mutation after her father died and the family found out he was a...

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Age at interview: 36
Sex: Female
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How did you find out?
 
I found out because my auntie had ovarian cancer. She had it later on in life. I think she was diagnosed in her sixties, was tested for the mutation, because many members of her family had had breast cancer and she was Jewish, they did genetic testing. And when she found out she had it, her daughter was then tested, and then she begged my sister and I to go and get tested, knowing that it was in the family.
 
And for a long time I ignored it. I thought what’s the point in this? I don’t know what this means, and didn’t do anything about. And she kept on and on about it. So eventually I went to my GP with a letter from her hospital saying that she was a BRCA II carrier. Showed it to my GP and he asked me who in my family had suffered with breast or ovarian cancer. And at that point she was the only person I knew of who had ovarian cancer. I didn’t know about any of the other members of my family. And he looked at the letter, and said, “I’ve just been on a course about this, I don’t think you have the mutation. Off you go.” And that was it. So I didn’t think any more of it.
 
Then in June 2007 my father passed away, and not long after that my mum got a call from a genetic consultant asking to speak to him. And she told him that my father had passed away, and he said, “Oh he’d been for genetic testing and he was, a carrier of a BRCA II mutation.” We didn’t know that he’d been for testing, because he was quite secretive about these things. And when my mum said, “You know, I’ve got two daughters. Should they come for testing?” He said, “Absolutely.” And that’s when my sister and I went to be tested.
 
And what were the steps you took when you decided to go for testing; can you describe what you did?
 
The consultant then made an appointment for me and my sister to have testing which, it was a bit of stressful time anyway, because my son was born in August of that year, and in the October he was found to have congenital heart disease. And was taken to [hospital] for open heart surgery, and it was while he was in intensive care that we were tested at [hospital] by the genetic consultant. So …
 
So that must have been quite a time then?
 
It was very stressful, yes. I think my mind was sort of more on [son] being ill, rather than being tested, so I sort of took it in my stride. We didn’t, my sister and I weren’t overly stressed about it. We went and we had a blood test. The consultant said to us, “If you’re BRCA II it means you’ve got this percentage of getting this cancer, that cancer, the other cancer”, and it was a lot of numbers reeled off at us. I think we didn’t take any of it in, because we were more worried about what was going on upstairs. And it was just pie in the sky if we’d got this, if we’d got that. So we didn’t really take it in, and I don’t think we were that stressed at the time.
 
Was that, was he quite serious when he said, do you want to see these results?
 
Yes. He said, you know, we didn’t have to see them, if we didn’t want to.”
 
Did you and your sister discuss whether you’d want to know the results?
 

No. We both, I don’t think we discussed it much in between. There was so much going on and it was just, you have a blood test and you get your results. We didn’t sort of think of it any other way. 

 

Karin was very impressed by the screening process to find out if she carried the BRCA mutation.

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Age at interview: 39
Sex: Female
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And at the time my mother was convinced that because my sister had breast cancer, that I, there’s no way I’d have the BRCA gene. And we went to [town] and we went through the whole screening process, which I have to say was amazing, because the support, the information, the encouragement and the lack of pressure. It’s your decision, even up until the point that they give you results, it’s, “Do you want your results or don’t you?” Because I mean, people have a change of heart. I didn’t. I always wanted to know.  
 
One woman described how after she found she carried an alteration (mutation) in the BRCA1 gene, she began to uncover other cancers in the family that she hadn’t previously known about' “the further you dig back, the more history you find”. A couple of people described how their physical likeness to one parent had made them convinced that they also must have inherited the faulty gene of that parent (though there is no scientific basis for such beliefs).
 

Hayley inherited a copy of the faulty BRCA1 gene from her father and had her ovaries removed as a...

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Age at interview: 39
Sex: Female
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So that’s where I’m at. Ovaries removed. And unfortunately I had my operation and then a week later [cousin] died in August. But I’ll always… I mean I wrote to her loads. And I’ll always be grateful because if she hadn’t opened up her records, I would never have known. And if I was the older out of all of us, it could have been and probably would have been, possibly one in 68, or whatever it was chance it would have been me. So it’s just … it’s just, it’s just something you’ve just got to deal with. But I would rather know about it, then not know about it.
 
And having two boys is a relief rather than having two girls I can’t deny. I know they’ve got a chance of a slightly higher risk of prostate cancer and a slightly higher risk of breast cancer which is very rare in men anyway. And I just think, well by the time they’re older, there may be a cure, and certainly screening processes would be even more refined. And now on the news you hear about …
 
Then I would always worry about my potential grandchildren who may be girls. Although my boys and five and seven, you know, it’s just like… but with the… I mean on the news only last week with the embryo being screened, I reckon it will be second nature in 2030, you know, who knows? So I’m (?not) too worried any more. Something I have got to deal with. That’s my story, it’s not, you know…
 
And so I was in bits, [husband] asked all the logical questions and said, “Well you have a chance, yes, you have a strong chance, but you know, it’s not going to happen.” So he said, “We’ll have the blood test.” And of course there is the two months waiting for the results of the blood test, and what, they are very good. They take two lots of blood to be sure, to be sure. You know, it wasn’t like, “We’ve made a mistake.” They took two and my match was absolutely… because they had [cousin] on file, and they had mine, it was a complete match. Whatever her flaws, mine was the same flaw. So there was no, it was a no go brainer. I had it.
 
And I remember when she told me, I looked at [husband] face, it fell and then it rose. And he’s a strength. He is a mega star. He’s an absolute star, he’s brilliant.
And that was it. He didn’t say, he’d have to deal with it. Of course it was all tears [bit teary].
 
Do you want to stop for a moment.
 
But he’s so… I came prepared. And it was seeing his face, because he almost cried, and then he just, I was just watching him, because it was like this ear to brain, you know, you got the… and it was like the register, and I was watching him register. Because I don’t know at the back of my mind, I just thought, because there’s a 50/50 chance of me having this gene, because my dad was the carrier which we didn’t know at the time. Basically we knew obviously [uncle], basically my dad and [uncle], they were two brothers, that’s it, there was no girls in their family, and it was obvious that [uncle] was the carrier and so it was a 50/50 chance that dad was a carrier, and I just thought, you know, it’s sod’s law, he is going to be a carrier, and I take after dad. Even though I asked the question, because I look like my dad does it mean, I just knew that I would have it, I don’t know, because there’s a 50/50 chance. But [husband] was convinced I didn’t have it. And my sister was convinced, you know, she said, “We’re lucky people, we don’t have this stuff.” And anyway his face just crumbled. I’ll always that have picture
 
Those who had gone through genetic testing sometimes struggled to understand the risk statistics they were given for either developing or passing on a condition. Particularly in the case of breast cancer, which is common in the general population, the extra risk posed by having a known genetic mutation can be difficult to grasp. One woman who was diagnosed with breast cancer was not found to have any of the known Ashkenazi founder mutations causing breast cancer susceptibility, while another one was found to have the BRCA2 gene mutation despite being unaware of any family history of cancer.
 

Sheila went privately to be tested for the Founder mutations in the BRCA genes, and was upset...

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Age at interview: 59
Sex: Female
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Then there was also the question of genetic testing because my Mother had had breast cancer. I was a first, degree relative. Once she was diagnosed, then it meant automatically this is it, I was in a higher risk, and with Ashkenazi Jews there could be a familial link with the BRCA1 or the BRCA2. The genes with a known link at that stage. Anyway so I asked if I could have the genetic testing. So first they said no. So again, I then went back, and I said, “Look my sister in Canada, my sister in Israel, who haven’t got breast cancer, they’ve already had the test. It didn’t take long there, the minute I was diagnosed they contacted, and they were told, ‘Yes, you can have the test.’ And boof, they’re having it, and they’re getting the results.
 
So then here they said, “All right.” I can have it. It’s at the [hospital name]”. And they said, “There’s a two year waiting list.” So I was, I was adamant. I said, “I’m not waiting for two years. It’s impossible. It’s too stressful.” So then they said, “Well if you pay for the consultation, then it can speed it up.” So again, you know, I mean its like, it shouldn’t like it shouldn’t be a two tier system. So I said, “How much is the consultation?” And they said, “£400” and then they said, “Then you can go on the National Health to have the test because the test is thousands.”

This is what the consultation consisted of. It was disgusting. First of all they kept me waiting for four hours. Okay. So you’re not feeling well, okay waiting. Came in, this lady who’s a professor, doctor, says to me, I’d had to fill in a form before giving family history, for which I got my mum’s help. It actually turned out when she did enquire, there were quite a lot of people on her side who had died from cancer, which made her feel a bit bad. It shouldn’t but, from like her grand, her grandfather I never knew, and then her uncle, and her aunt. You know, various people because of course, those generations, didn’t always talk about what people died of. You know, they didn’t always know.
 
Anyway, so and I said, “I’d take any cancellation.” I said, “It didn’t matter what day.” All it actually involves initially is that they take blood. I mean it’s what they do, then they have to test it. And they said, “You should get the result within three months.”
 
So I wrote down in my diary, ninety days to the day, and I thought, if I don’t hear, I’m phoning. I’m phoning which I did. And they said, “Oh don’t know if we’ve got your results yet.” I said, “It’s fine. I’ll wait on the phone.” She came back, “Yes, we’ve just got them.”
 
And then the nurse, she says, “Well,” she says, “With 60% certainty we can say that you’re negative.” So then I was distraught because 60% certainty’s pathetic. I mean it’s almost just like even chance, you know, it’s close to 50. I mean. I said, “No.” I said, “I can’t believe this.” I was really upset.
 
On the phone to my sister that night, she said, “Calm down.” She said, “What it means is, that for all the genes that they’ve so far uncovered, on the whole, the gene and the genome project that they’ve identified, they’re only BRCA1 and BRCA2 that can increase the pre-disposition to the breast cancer. But there’s 40% of the genome, the actual genetic total list
For those who carried a cancer gene mutation (BRCA1 or 2), worries about passing the gene on to future generations were further compounded by worries about their own health. Even though a few of those who had tested positive for the cancer gene had already gone through and recovered from cancer, they knew that having the faulty gene put them at a high risk of further cancers developing.
 

Michelle was the only one in her family who had had breast cancer, so she was convinced that she...

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Age at interview: 41
Sex: Female
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So basically it had never occurred to me to be tested before. It had never been in my knowledge to be, you know, know what BRCA is. There isn’t anybody on either side of my family that has been unwell with cancer, let alone breast cancer, that we knew of. It was actually quite rare. My situation’s quite rare. Usually it runs, if it runs in family and people are aware. It didn’t happen in my case.
 
So, after all my chemo it was suggested to me, that, by my surgeon that I be tested for BRCA, because and we were like, well why? And he told us his feelings. And my mum at the time said, “You know what Michelle, you’re not going to have this thing, because nobody’s unwell. No one’s got it. No one’s had cancer. It’s not going to happen. Rule it out, get the test.”
 
I didn’t have counselling which was wrong. I didn’t have the proper… because we were so… It was such a rare situation that there’s no one else that’s got breast cancer. It was like a no brainer. Of course you’re not going to have this thing - that we didn’t even know what it was. Go and have tests.
 
So I went and had the test, quite flippantly, while I was having my chemotherapy they took extra blood and they just sent it off to be analysed. And unbelievably it came back that I have the mutation on the BRCA 2 gene which was a huge shock, a huge shock. And the repercussions are obviously huge. But it meant obviously that one of my parents carried the gene. It’s a 50/50 chance that you can get the gene from one of your parents. And initially my mother was you know, really concerned and worried that it was her. And that she’d carried this thing, and obviously it hadn’t come out in her, or in her mother and so forth. And so she had the test straight away and it wasn’t her. Which meant it must have been my father, who subsequently he had a test and it was proven, yes he carries the BRCA 2 gene. He’s 64/65, never been ill. His parents, although they’re not alive, did not have cancer in their lifetime. They both died of heart related illnesses. And we were trying desperately to track this back.
 
We now think, that, because my father was an only child, possibly his father carried the gene and his father’s sisters, we now know in Canada somebody had breast cancer. But it’s not close, and well it’s close, but it’s not obvious. In most people that I’ve met since, their mother or their aunt, or they’ve all had breast cancer. Because no one had, it was more of shock in my case. But that’s how it came to pass that I found I had BRCA 2.
 
Okay. Thank you for that. Can I ask, when you said that consultant delayed mentioning that you carried the gene, do you think that was the right decision for him to make at the time?
 
I’ve thought about this question a lot since. Now, I do believe... I’m sitting somewhere, there’s a good for and against on this one. I think when you’re first diagnosed with something like breast cancer, your whole world is literally pulled from under you. Everything is upside down. If I would have had family that had been unwell, I might have been more aware a) of breast cancer and b) that it runs in families. Therefore if that would have been me, which actually is most people then I think yes, I think he should say as it runs in your family, I think we should test your for this, because you will then have more choices. And the choices are that we could prevent you ever from having any other cancers by removing your other breast if you want - you have choices, you are aware of your choices and over your ovaries because BRCA is connected to your ovaries as wel
 

Karen was pleased to take part in the GCaPPs study because she hadn’t realised she could be at...

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Age at interview: 48
Sex: Female
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Can you tell me a bit about having the genetic test?
 
Yes. I, bizarrely just after I came into remission, I got through the door a flyer from GCcaPPs doing a study on ovarian cancer which is prolific in Ashkenazi Jewish people and I read it, and I thought I’d like to know if I’ve got the gene, because I had no idea whatsoever. So I contacted them, had an interview, talked at length about it. What getting the results might be. It wasn’t guaranteed that I’d actually be tested. I think they look into it all. Was contacted then that I would be tested, and quite a few months later I was contacted that I needed to go get the results, and the results were I do carry BRCA 1 and BRCA 2 I carry the mutation 2 in BRCA 1 gene. So I do carry the ovar… that gene that would cause ovarian cancer, prostrate or breast cancer in men or women which means to say that I could still get breast cancer. It’s just because I’ve had ovarian cancer, doesn’t mean to say I can’t get breast cancer. So I still need to be very aware. And now I know that, I actually will be more, because I actually didn’t know that. You know, I thought once I had that… but, you know, while they’re testing me for everything else, I could still get breast cancer. I didn’t even know that.
 

And my daughters - I’ve talked to them. They want to be tested because I think that forewarned is forearmed. Had I known that I carried the gene and with the symptoms that I got and knew what the symptoms were, and what to look out for, I think I’d have been a lot more determined with my doctors. Not the ones I’m with now, the old ones, to be checked, instead of just given pills, because I needed the loo so much. Because when that started was when my cancer started. So, yes.  

 
Several women discussed their concern about their children inheriting the mutation from them. Their concerns also focused on when to tell their children and how much to tell them.
 

Caroline says that the “sensible part of her brain” tells her she shouldn’t feel guilty about...

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Age at interview: 36
Sex: Female
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You mentioned about worrying about your children in the future, about passing the gene on to them. Have you been given any advice about how you can deal with that?
 
Nothing. Nothing whatsoever. I had a 50/50 chance of getting it. I was told if I married, which I have, a non Jewish person that meant they had a lower chance, because obviously if I married another Ashkenazi Jew then they may also be a carrier. So that made me feel a little better. I’ve been given no information whatsoever. I know they can be tested at 18. I was discussing it last night with my husband, because having been on my conference call with these other ladies, they were all saying how guilty they felt, we were all saying how guilty we felt that we may have passed it on. And that they can only be tested at 18 which is a very difficult age to tell them. I mean if they’re doing A Levels or whatever, and then you say to them on top of that, “Oh by the way, you could have this horrible genetic mutation. Let’s go and get a blood test.” You know, it’s a very difficult time for them.
 
When you sort of say that you and these other people talk about the guilt you feel about passing this gene on, can you not see it as an ongoing... that obviously it was passed on to you. It’s not your responsibility necessarily?
 

No. I sort of do and then I don’t. That’s how I felt before, I thought, you know, this is me and we all pass something on to our children but when I heard all these other people saying about this guilt, it did dawn on me, I did feel, you know, bad that I’d done it. But what could I do? You know, it’s not something, had I known about it before I had children, you can have your embryo screened, and I know somebody… it was on the news not so very long ago, a couple did that. But then I think would it change my mind? If I knew I had it before I had children would I still have children? Yes, I’d still have children. And, you know, as you say it’s not my responsibility. It was passed on to me. And it was passed on to my dad, and so in a way, I sort of, the sensible part of my brain, thinks I shouldn’t feel guilty, because what can I do? I can’t help passing it on. But then the other part of my brain thinks, well what if my children turn round and go, you know, you did this to me, you gave me this, and you know, as teenagers do, I hate you. And I’ve got to go through this, that and the other. So I sort of look at it in two ways, it depends how I’m thinking on a particular day. 

 

Karin’s biggest fear is passing on the mutation to her daughter.

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Age at interview: 39
Sex: Female
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Was it explained to you at the time, that it was a gene that was carried by Ashkenazi Jews?
 
Yes. Yes.
 
And what did you think about that?
 
I was unlucky. Ah. I suppose you’ve got to look at everyone’s got their characteristics, their heritage and what it brings, green eyes, blond hair, BRCA genes. You, ah my sister spent a long time blaming my mother, because she got breast cancer, and it was my mother’s fault because she had the BRCA gene. I just got on with it. I knew what I wanted to do. And I did it. 
 
Did your mother feel guilty at all?
 
Terrible. She would... she felt very guilty. She felt guilty about me. And I think any mother would. I mean that’s my biggest fear with [daughter’s name]. You know, what if I’ve given her that? Because just after my big surgery, NICE got the consent for embryo screening for BRCA, and I did a whole TV interview for BBC on my opinions about that. And I just felt at the time, oh my God, she’s four years too late, because I would have done it. Had I known, things might have been very different, but you don’t, and you’ve just got to move on, but if I had my time again I would have been screened. 
 
 
 

Karen is grateful to know she carries the BRCA mutation because her daughters will now be tested...

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Age at interview: 48
Sex: Female
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How did you feel when you found that you were carrying it [the BRCA1 gene]?
 
Actually, fine. I think had I not had the cancer, I might not have been so fine. I might have thought oh gosh, you know, I’ve got a big chance now of getting… very pleased to know that I really need to be careful and watch out for breast cancer now, because I wouldn’t have known that. And just hope my girls haven’t got it. But if they have, I’m really glad that we know and that they will be tested much earlier. She said that if we get on the genetic program they will start giving them mammograms at 30 instead of 50, and that they will have the blood test to see what’s happening. Well fantastic, because it is called the silent killer; ovarian cancer, and as I’m an example of… I had no idea, even with going through the whole medical system that I had it until the obvious symptoms showed which by then, you’ve well on the way. So no if I have and if they have, then I’m glad that I know and that, that they’ll be tested. At least, at least I know, you know, got them on some sort of testing earlier than they would have been or been totally oblivious to it. You know the same thing could have happened. 


Last reviewed September 2015.
Last updated September 2015.
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