Just found out I have inherited faulty BRCA 1!

Hi, I am a 36 year old Mum of 2 yong boys (4 &3) and was diagnosed with Grade 2 tnbc (no nodes) in sept 2010. I had neo-adjuvant chemo, WLE and 19 rads which finishied in May. I have now just received the results of my genetic test and found out I have inherited the faulty BRCA1 gene. I don’t know how I expected to feel, but am shocked and now very anxious about having to tell family members- especially half siblings with whom I have had no contact for 10 years since my Dad’s funeral.
Can anyone let me know what to expect next, the genetic counsellor has said she will call me in the next couple of weeks.

Alex

Hi Alex

I’m sorry to hear that you are having a difficult time at the moment. I’m sure the users of this site will be along to support you soon.

In the meantime maybe you would like to talk to a member of our helpline staff who are there to offer emotional support as well as practical information. The free phone number is 0808 800 600 and the lines are open Monday to Friday 9.00 to 5.00 and Saturday 9.00 to 2.00.

Best wishes Sam, BCC Facilitator

Hi Alex

i have a brca 2 mutation identified last year after having BC at 37 and a TNBC in other breast at 40.

my family (mum, dad, sis and kids) knew i was being tested but we were still surprised when result was positive… my mum had previously had BC so she was tested as no BC on dads side but mum was neg… dad tested pos… sis also asked to be tested and was neg.

my daughter is 20 and doesnt want tested, well not yet anyway… my 17 yr old son would be tested but needs to wait till over 18.

our genetics department can give a letter to forward to family members… it goes along the lines of… “Somebody in your family has been found to have a genetic mutation in the BRCA1 gene. Having this gene significantly increases your risk of getting cancer. As it runs in families you may also have this gene change. If you wish to be tested please ask your GP to refer you to your local genetics department for discussion.”

this doesnt identify the affected person but makes others aware… they normally put a refernce number on it to identify the family… some people cannot find other family members or do not keep in contact so cannot pass on the information… its not your responsibility to inform them as they may not choose to act on it anyway, but many people do feel they should let any at risk family members know… your genetics team should be able to advise you.

has it definitely come through your dads side? has mum been tested? or do you keep in touch with any other family on dads side that may want to be tested… eg your aunt, uncle or grand parents?

the genetics team may discuss risk reducing surgery such as bilateral mastectomy +/- reconstruction and removal of tubes and ovaries (bilateral salpingo-oophorectomy=BSO) to minimise your risk of ovarian cancer. there is no ovarian screening in the UK at present. you can continue to be screened for breast cancer with annual mammography (and possibly MRI depending on where you are in the country) between age 30 and 50.

big hugs

Lulu xx

Hi Lulu

Thanks for your reply. I have been given letters from the genetics department which I can pass onto family members ( although the letter does have my name and dob on it). The BRCA1 gene that I carry tends to be associated with Jewish ancestry and my Dad was Jewish. His sister also died of breast cancer in her early forties, however as there is a history of ovarian cancer on my Mum’s side of the family they have said it would be appropriate for her to have genetic testing too.
I have 2 half sisters and 1 half brother on my Dad’s side of the family, with whom I have had no contact for several years. I have decided to write to them and enclose a copy of the letter the genetics department has provided me with. I feel this is most definitely the right thing to do as my half brother has a daughter in her early thirties.
I really don’t know how I feel about risk reducing surgery at the moment, well I suppose I’m not keen at all but presume theres no rush in making a decision.

Thanks again for your post and thoughts

Best wishes

Alex. xxx

Hi Alex, So sorry you’re having to deal with this news. Have sent you a PM. BB x

I have a question about the BRCA gene and detection… My mum had trip-neg BC in 2009 at 66, scans clear now; I had the same this year at 32, finished treatment in July. I have too sons (11 months and 2). We have many cancers in the family history, ovarian but no BC. She is deciding whether to have testing after initial counselling. If she decides not to, which I will respect, can they test me the same way and find out if I have the gene?
thanks
Ningaloo

I’m surprised they haven’t offered testing to you directly as your own situation regardless of any family history would normally fit the criteria for testing… Under 40 with triple neg.

Ovarian cancer is strongly linked with bc so that is quite relevant. We normally like to test the youngest affected family member which would be you. You can ask for a referral directly to genetics yourself. The gene can come through dad as well as mum. My mum had bc at 57 then I got it 37 I have a gene change but mum doesn’t. My dad has it. It was just a coincidence that mum and I had bc a year apart.

66 at diagnosis wouldnt be as likely to be genetic as diagnosis at 32.

Hope that helps xxxx