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BRCA2 mutated gene carrier

(10 Posts)
candykane25 Thu 08-Jan-15 10:16:35

I have been informed that it is likely I have the mutated BRCA2 gene which causes breast/ovarian cancer. This has come to light due to a genetic study of my immediate family going back into three generations and present medical records. I've been told I will now have an annual mammogram but there is no ovarian screening.
I will be seeing the geneticist and seeing my GP next week.
Anybody else in this position? Any advice or questions I need to be asking?

NecklessMumster Thu 08-Jan-15 10:27:19

I was in this position as my cousin tested positive and we have a family history. I had genetic counselling and then decided to be tested. I was lucky and tested negative. It took me a long time to decide on the test until I realised I was thinking too far ahead ie was thinking about mastectomy etc . I found the Macmillan leaflets online helpful re questions to ask and there is also a brca forum . I wanted to ask about insurance and implications for my children (boys). Good luck and thank god for the nhs

candykane25 Thu 08-Jan-15 10:38:19

Thank you for replying neck led. Who actually did the test? As I have been told this due to a research study, they aren't my doctor. I would like a definite answer.

NecklessMumster Thu 08-Jan-15 13:37:37

The test was done via the clinic at my hospital. I think if you google genetic testing it tells you the sites that do it

candykane25 Thu 08-Jan-15 14:05:34

Thank you neckles thanks

digerd Thu 08-Jan-15 15:52:38

The breast cancer gene, and probably others, have an 80% likelihood of developing the disease, but a lucky 20% will NOT develop it.

candykane25 Fri 09-Jan-15 17:22:33

Has anyone had the screening for the gene done by the NHS or is it all done privately?
The geneticist who has said I need to have annual mammograms has said she won't test my DNA until she has tested my dad. My dad died of cancer four months ago.
I just want answers without delay really.

Phoenixfrights Fri 09-Jan-15 19:54:50

Of course you do.

I would think from an ethical standpoint the researchers would be duty bound to signpost you for genetic testing. Surely.

Also, if you do test positive surely you should be offered the option of risk-reducing mastectomy/ full hysterectomy?

Tinkerisdead Fri 09-Jan-15 20:06:27

Im going through this at the moment in that my half sister died of breast cancer at 34, my aunt had breast cancer and I have had repeated breast lumps etc. i was referred for genetic counselling but they advised that they can only test for BRCA1 and BRCA2 if they test an affected person or a direct relative of an affected person. The counsellor said that its the difference between looking for a typo in a chapter in a book compared to looking at the book as a whole not knowing whete it is.

My dad has had to now provide his genetic questionaire etc so that they can look to test him to justify testing me. At the moment im waiting in them completing my dads to get moving on it all.

However, despite not knowing if I have the mutation I am still deemed high risk and so I was recommended tamoxifen for five years(proven reduction in risk as preventative) and then start yearly mammograms from 40 (im 36...tomorrow). But i cant have tamoxifen as ive had embolism before and it carries a higher risk of clots. Sorry I cant tell you more in relation to testing positive but all my stuff has been done through the nhs and speedily too!

candykane25 Fri 09-Jan-15 21:15:36

Thank you Phoenix. I have so many questions! That's how I feel, I just want to minimise the risk. I have a 17month old. It's very scary.

DoctorsWife, that is so helpful, thank you! I am 40 which must be why I am suppose to start with annual mammograms now. No one had told me who sorts that though or where I have them.

No one had mentioned tamoxifen yo me yet. My poor GP is going to be bombarded when I see her.

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