BRCA testing with limited family history?

[buzzheath]

I hope this isn't insensitive. I just know quite a few people in my life who have been diagnosed with BRCA1/2 related cancers - ovarian and breast. Not relatives, just friends and friends of friends.

It got me thinking about my own family, and how I have very limited family history. My mum only has one brother (men's risk of BRCA related cancers is much lower - he is totally fine) and my dad is an only child. Neither my mum, nor my grandmothers have had cancer. One died of a heart condition in her 60s and one is still alive and thriving at 86. But I did some research, which suggests that the absence of ovarian /breast cancer in your family might not accurately reflect your true risk, if you have few female relatives. It's just that there’s less opportunity to see it manifest.

I have some other non-related health issues, which have made me quite anxious, but also proactive, about my health and what I can do to improve it and prevent other problems in the future. Is it worth me getting tested for the BRCA mutations? I know the NHS won't test for it in my case. If I had at least 2 more older female relatives (i.e. aunts etc), and they were fine, I'd worry less, I guess. But the lack of family history and limited opportunity for something to manifest makes me think maybe it's worth it? If I am positive, at least there's things I can do about i.e. monitoring, risk-reducing surgery etc.

I guess my question is: has anyone without a family history of BRCA related cancers, or one of the BRCA mutations, gotten tested anyway?

I should also say, in case it comes up, I'm not of Ashkenazi Jewish descent (am South Asian background).

I have a BRCA2 mutation. I don't think you're being unreasonable in wanting to be tested but I do think it would be very unlikely that you have an inherited mutation. Even if you did have a mutation your risk of cancer is now believed to be lower than originally thought and you can be proactive with breast checks and being aware of any changes in your body. I have had preventative surgeries and there are many health issues that have arisen because of early menopause and reconstruction surgeries which I know is better than having cancer but still :)

Thanks so much for your response. I think it's the fact that, in terms of "family history" beyond my mother and grandmothers, I only have one maternal uncle. So not many opportunities for the risk to present.

I'm sorry to hear about your preventative surgeries causing issues, but very glad your risk is likely back down to normal levels. What are the reconstructive/menopause related health issues, if I may ask (please feel free to ignore)? I have a friend who went into early menopause due to cancer treatment. It was a rough few months but she seems to be doing much better now.

I have an even more limited family than you (both parents are only children). My mum had breast cancer in her 20's but the NHS wouldn't test me. So I think you're right, I wouldn't even consider the NHS route.

If you're prepared to pay for it, then there's nothing to stop you. But what do you do after you get the all clear? Do you find a different illness to stress about and test for. You're in danger of falling into spiralling health anxiety, I'd investigate ways to overcome your anxiety instead of trying to rule out illnesses that you probably don't have.

I mean yeah that is a good point re health anxiety, but I guess the BRCA gene is a pretty major one. But I do agree

Only 5 to 10% of breast cancer is BRCA gene related. So 90 to 95% isn’t. It might be a better strategy to take steps to reduce your risk of all breast cancer (eg cutting out alcohol, and regular mammograms, possibly more often than the NHS programme) if you are not already doing so.

My DM had breast cancer before the age of 40 and died of another cancer in her early 50s. I’m now in my mid 50s (so older than my DM was when she died) and did have extra mammograms on the NHS but no genetic testing.
My risk is likely to be normal population risk now as I am 15+ years older than my DM was when she got BC.
I don’t know what extra value genetic testing would have given me. I was already being screened and genetics is not the most significant risk factor for most women. If it was positive would have had the risk playing on my mind whilst not being able to do any more than I was doing. If it was negative that would have only eliminated one risk factor for BC. The biggest single risk for most women is age which you can’t remove anyway.

I don’t think genetic testing would give you peace of mind. If it’s positive you may spiral and if it’s negative you will find another risk or health issue to focus on.

So sorry to hear about your mum.

The BRCA1/2 gene mutations are a hugely significant factor in getting breast cancer, if you're positive for the mutation, and you can do a huge amount about it i.e. risk reducing surgeries, more regular and early screening, being aware of changes. But the risk reducing surgery is the biggest impact.

I had annual mammograms from my mid 30s and rapid access to the breast cancer service if needed. If tested and positive I would have had to balance the impact of major surgery especially if I also needed my ovaries removed against the potential treatment for any cancer which may be treatable if caught early. I didn’t have children until my mid to late 30s so I wouldn’t have had surgery then anyway.

Getting the information may be the right thing for you but then you need to think through the implications. If you are +ve are you prepared to have that surgery accepting that the cancer risk is reduced but not eliminated but that you may have other complications. Also if you have an oophorectomy too are you prepared for the consequences of that.

Before you get tested I would make sure you get good genetic counselling.

With BRCA mutations its usually very obvious as breast cancer manifests at a much younger age. Our family were tested on my aunt and nan who had breast cancer in their 40's and early 50's. The rest of us all got tested and myself and an aunt had breast cancer in our 30's (both of us are also BRCA1). It's not all about just getting preventative surgeries there are a lot of mental factors involved in losing breasts and early menopause. It's not as straight forward as lop them off and you are cured. My concern respectfully would be that you get tested privately and then go on to fixate about something else health wise. It's unusual for people to want to be tested for genetic things without a family link.

My friend has breast cancer at 35. She has been tested and carries the BRCA mutation. Her sister is 38 and lives overseas. Does anyone know the chances if the sister getting cancer? We are not sure about testing possibilities where she lives. Thank you all and all the best for anyone fighting!

You're not being unreasonable in wanting to be tested, OP. I would pay to go private if i needed to as I too have limited info on my dads side. For me its a no brainer (currently waiting for my results via NHS due to Jewish grandparents).

Just to flag up for anyone looking at this thread, that the nhs is currently running a screening programme for women with at least one grandparent of Jewish ethnicity.

I think the Jewish testing scheme ends next week so you have to be quick!

https://jewishbrca.org/

Deadline for free testing on nhs is 31st October. Sorry to have gone off topic a bit, OP. Hope you manage to find a good private testing route.