BRAC Gene testing

[NewOT]

My mum died aged 46 from breast cancer, that spread to her bones and liver.

I'm 32 with a young child, and I'm starting to worry (understatement) about what the future holds and whether I have inherited the same genetic mutation.

Is there a way I can do this and, if so, what preventions can be put in place, if any?

That's sad.Go back in your family tree to find out whether any other members of the family have had cancer ( of any type)) ..if you have any information from your mothers papers about the type of cancer she had that will also be helpful. 1 in 8 women get breast cancer but it is a variable disease and most are not fully inherited .Armed with as much information as you can gather make an appointment to discuss this with your GP.Around here ,and I suspect nationwide, there are guidelines regarding BRACA gene testing and you may or may not fit the criteria .I can totally understand why you want to pursue this though.

I know that my mum’s aunt had breast cancer but we are NC. Is there a way to have testing without a living relative who had/has cancer?

I think that you unfortunately won’t get this testing on the NHS unless you have further relatives with it. Did your mum definitely have the gene? My mum has stage 4 breast cancer that’s spread, she doesn’t have the gene.

Hopefully someone more knowledgeable will come along to say how you can get tested.

I don’t understand the process but you can have a BRCA gene test without relative living but there is some better (expensive) test you can get if you have a living relative. I could be wrong.

I have no idea whether my mum had the gene unfortunately. I suddenly have the fear that I’ll die young and leave my daughter behind, after years of (not so) blissful ignorance.

@jytdtysrht really?
OP don’t rely on randoms on the internet, ask your GP

It is a worry and I understand why you want to know more. There are NICE guidelines regarding referral to secondary care, and then clinical genetics for women with a family history of breast cancer. Familiarise yourself with these and then ask for a referral to secondary care, where they can discuss a clinical genetics referral and can also get you on an enhanced monitoring programme. We have a family history ( mum and aunt with BC) and they have been great. Clinical genetics will decide whether the risk is significant enough to gene test, but they have protocols in place where relatives are thin on the ground.

You can pay till have the test done privately but it’s expensive ( £1600 when I looked into it). First step, equip yourself with information and knowledge, then speak with your GP.

Etinoxaurus
Yes really
My posts had appropriate caveats.

Hi op. My Mum first had breast cancer at 51 and then died from secondary breast cancer at 65. She didn't have the gene but did have an aunt that died young (in her 40s) from breast cancer. I had an appointment with the breast clinic over some pain in my late 30s (turned out nothing to worry about) and I spoke to the genetic nurse about my family history there. Because my mum had breast cancer relatively early, I have been offered yearly mammograms since turning 40. This gives me piece of mind as my mum may have had cancer for a while before she was first diagnosed. Certainly worth chatting to your gp about as they may put you on an early screening programme if you want to go down that route.

Hi OP, I have the BRCA 1 gene. My mum died of ovarian cancer, as did her mum before her. Please speak to your GP and get genetic testing done. It's a simple process and will let you know either way. Even if your mum did have the gene, you have a 50/50 chance of inheriting it.
In my experience, the NHS have been really good. I had my testing done and then had appointments with the genetic counsellor to guide me through the process. I had a double mastectomy followed by ovary removal a few years later. I can't tell you how relieved I am to be free of the risk and I hadn't realised how much the fear of cancer had been hanging over my head.
If your GP isn't helpful, please ask to see another one though - mine was fantastic but I have heard stories of others not being so up to date. Hopefully that will have changed now though as there has been a lot more awareness in the last few years. Good luck and please feel free to message me if it would help x

I agree HollyHocks13. My GP was very helpful and referred straightaway but she wasn’t familiar with the secondary referral guidelines from NICE and it helped that I could say ‘this is what NICE wants you to do with ladies like me.

I’m also on yearly mammograms and again, it gives me peace of mind. My mums bilateral breast cancers were both picked up on the monitoring programme. She has now had a double mastectomy and is, touch wood, cancer free. We are in the process on BRCA testing now.

If the NHS won't do it for your, you can do the genetic test privately for US$325 with Invitaie . It is $250 for the test and $125 for a consultation with one of their physician if you don't have a referral www.invitae.com/en/providers/test-catalog/gene-20065

Invitae is the main lab used by hospitals all around the world.

Just to clarify a common misunderstanding. Everyone has the BRCA1 gene, it is one of the protector genes. It is when there is a mutation on the gene, that it can do its job and one becomes more prone to breast cancer.

I think if you are going to go down this route op then you need to have a good idea of what you want to do if the result doesn't go the way you want. I have friends two sisters who both had to make the decisions HollyHocks did. Not easy in itself.

My mum died from ovarian cancer.
Her cousin died from breaat cancer in her early 30s.
My mum's ovarian cancer was tested for the gene. It was proven that her cancer was sporadic. The genetic councillors told us not many cancers are genetic.
I had hormone issues and an ultra sound showed my ovaries were not normal. The gynae consultant removed them for me once I turned 40. Could they have changed into cancer who knows.

The NHS did it for me. If you do have the BRAC gene then you will be offered an annual mammogram so that they can catch any signs early. This gave me peace of mind and now I have passed the age of 55 my risk is now the same as anyone else my age. They said they may now switch me back to the standard 3 year mammogram but I still get an annual invitation so I go. Ask your GP if they will refer you. I was sent to a specialist unit at our local hospital in Cambridgeshire