Braca 2 results finally in!

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Hi everyone
I have been tested for a genetic link for the past 18 months. My results came back after a lot of chasing as showing an unknow variant in the 2 strand, which they said was unlikely to be ca causing?
My cousin who had exactly the same bc as me a few years later pushed to have her bloods tested as her Mum had sadly passed away with ovarian ca, the councillor said that they would probably come back just the same. She was told last week that they have found a mutation on the Exon 11 part? (Sorry not up to speed with all of this as yet. They are now re-testing my bloods for this same fault.
Just asking for advice on the wonderful site as I am sure that someonw has been here before.

Much love and thanks xx

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Hi Lancs lass,
If you can ask your cousin for full details of the actual mutation. There are many variants, the report should give specific details of the mutation. Mine starts with exon 11 and then gives further details of the deletion. it sounds as though you only have part of the information.

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Nice comment Helen. I know you can surpass all of this problem LancsLass.

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Hi Girls

I did get my full report Helen for myself, but my cousin was only told over the phone (1 day before going on her hols!) that she was Braca 2 postive. Its only when I started ringing the genetic teams in Southampton and Manchester that I obtained this snippet of info. I have read that Exon 11 is linked to insulin and thats as far as I go.
They have promised to send me the report on the check of my bloods in 10 days, so I will perhaps get my info then.
I have already asked the questions about having a bi-lateral, I had my ovaries (but not fallopian) out 6 years ago.
Have they offered you any further treatment Helen?
Thanks for replying girls.
x

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Hi,
I was advised to have my ovaries removed which I did, infact I had a full hysterectomy due to fibroids. I never wanted to undergo bi-lat mastectomy so have not had this surgery, touch wood over 8 years on I’m fine, finished arimidex over 2 years ago. I’ve just dug out my lab report and this is what it says:
‘frameshift mutation c.6503_6504delTT; indentified in exon 11 of the BRCA 2 gene.’
Your report should give similar information. As I said there are many variants and some are more harmful than others, so I think its important to know what you are dealing with before making any decisions.
Best wishes xxx