BRCA1 positive with no family history

Hi and welcome to the group.

I'm a little puzzled about how you found out that you have a BRCA1 mutation without a family history of cancer or, it appears, an existing cancer diagnosis yourself, but I am aware that some mutations (although by no means all) can be picked up by saliva tests done by people researching their family histories.

If you are in the UK it is usual for people to have genetic counselling before going ahead with genetic testing so that they can then return to the counsellor to start dealing with the implications of a positive test result if necessary.  If you are in the UK but have not had genetic counselling, then I would strongly advise that you ask your GP to refer you for it.

There is lots of research happening about BRCA mutations and you would probably find this US website useful, FORCE, in terms of understanding the risks.  I understand that there are many different mutations within BRCA1 and BRCA2, the type and location of which give a person a higher or lower risk of certain cancers, see here, so your actual risks of various cancers probably depend to a certain extent on the precise BRCA1 mutation you have.

It's a big and complicated subject so well worth starting to read up about before thinking about how specific issues might relate to you.  Remember that you are in control of any decisions about your body and that those decisions will be unique to you, your attitude towards risk, your life plans, your values etc.  It is well worth being as informed as possible about the most up-to-date research before making any irreversible decisions.

Well done for starting on the process and do keep on reaching out for support.

Hi

I think has said everything that needs to be said and given excellent advice. You are quite right to question lifetime risks. These figures are for use by epidemiologists and health economists and are meaningless for an individual trying to make decisions about their risk and their choices at a given point in their life. In fact, they are just terrifying for most people and I think it’s arguable that they drive some poor decision making. It’s so much more complex. 

As jaykay says, there are many factors in making decisions including your age, your attitude to risk, and yes, the aggressiveness of the mutation you carry. The brca genes are responsible for dna repair and they can be mutated at any number of places, with different results. Some mutations are more lethal than others so your question about risk where there’s no family history of cancer is really worth exploring in detail. 

For example, I’m brca1+ and living with incurable high grade gynaecological cancer. I was diagnosed age 50 and found out my brca status at 52. By this time my annual risk of developing a brca related breast cancer was 2% compared to 1% for any woman with no brca mutation developing breast cancer so I opted not to have preventive surgery. Simply not worth it for me. My sister, who is six years older, also proved brca1+. She had her ovaries removed but did not have breast surgery. She’s never been diagnosed with cancer. 

I think if I came from a family where we’d seen generations of women dying from breast and ovarian cancer in their 30s or 40s, I would take a more aggressive approach. 

It’s so personal and the preventive surgeries have far reaching consequences. Knowledge is power so I agree with Jaykay. Research the heck out of this and question those numbers to make sure you really understand what they mean for you. 

Good luck! 

Hi NIK93

In March 2018 I got diagnosed as BRCA2 positive despite little family history, this was a personal choice to see what my risk was and I opted for a test privately as the NHS would not test me despite loosing my mother to breast cancer aged 56 and my father to lymphoma in 1996 aged 45.

All consultants gave me a 1% chance of being a carrier of the BRAC gene and where all totally bewildered when the results showed as positive. I was then referred to the genetic and family history clinic in Manchester (NHS) where they performed their test and confirmed I was BRCA2. Following this they were positive (99%) certain it came from my mothers side of the family, however following tissue testing it is not the case the gene has come from my fathers line!

I have struggled with the fact I am BRCA2 however I am starting to see the light, I am glad I now have choices which I would not have had before and I am totally in control of my future. Following extensive counselling with Manchester I have now opted for surgery.

I no longer look at percentage chances of contracting breast cancer (as odds where never in my favour) I look on it as a personal choice and what is best for me.

I hope this helps

Nick

Hi

I also am BRCA 2 positive and so far I am cancer free.  I have had my ovaries removed but still cannot decide about breast reconstruction.  So to date it is annual mammograms and tamoxifen.

There does not seem right or wrong answer but it does feel lonely at times.

Keep being positive and asking questions. If you had your surgery by now good luck with next steps.

Nice to read this to know I am not alone. My reclusive sister got genetic testing for no apparent reason. We have no family history. Turns out she, myself and all our daughters are BRCA positive. This is not knowledge I wanted. My personal choice is to not take surgical measures. Needless to say the axe is now above me all the time and I can’t even discuss it with anyone. It sucks.

Yes it is hard to work out what to do. Just to update everyone I was diagnosed with TNC in March 22. So the surgical measure became the answer. A double mastectomy with breast reconstruction using implants.  I am now on a chemo treatment because of the TNC.  I had got to know my breast over the last 4 years and whilst I could have had a lumpectomy I couldn't face the annual mammograms. He absolutely understood.  I am not enjoying the chemo but whatever course I took I was being advised to have the chemo.  My cancer was 18mm and hadn't spread to the sentinel nodes.

There isn't a right and wrong answer.  However I am thankful my cancer was caught early and I hope the treatment deals with any stray cancer threads that have gone into my body.

Take care