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LeanneI's avatar
LeanneI
Member
15 years ago

Unique Situation - Genetic Testing

Hi am in a unique situation at the moment (could actually describe it as bizarre!)

I have pretty horrid famiy history of BC (monther diagnosed at 36 & 48 and survived both, as well as 3 other maternal relatives diagnosed between 40 and 45 who did not survive).

When I was diagnosed last year with high grade DCIS, I made the decision to have a bilateral mastectomy.

I had genetic testing however was comfortable with my decision regardless of gene or no gene. Family history on paper and peace of mind was enough for my decision!

They did not identify a faulty gene in my makeup.

I asked if they would test Mum and whilst not normal practice, they agreed that with her history and the family history, that they would.

We got the results yesterday and Mum has the BRCA2 gene. 

BUT it appears that I do not!  They will run my test again, now that they know what pattern they are looking for, but is extremely unlikely that it will be found.

So they are now unsure if I am just one of the general population that has BC with no family history, or if I possess another gene which has not been identified.

Is really bizarre however I am extremely grateful that I asked the question about testing Mum as it will enable all relatives to be tested if they desire.

Prior to the results yesterday, both my sisters had indicated that they will have prophylactic mastectomies down the track based on our family history.

This information adds another piece to the puzzle.

We are having a meeting with the Familial Cancer Unit in the coming weeks to fully take in the information so will keep you posted.

2 Replies

  • moz's avatar
    moz
    Member
    15 years ago

    hi Leannel, I to have a strong family history , but not yet tested, my Dr has advised me to really think about it, as it has ramifications, like getting a loan and getting private health insurance and stuff like that, do u know any more info on that as i have a daughter and i don't want her to suffer for my decision in later life.

    Thanks Take Care xxxooo

  • Rikki_Leigh's avatar
    Rikki_Leigh
    Member
    15 years ago

    Hi Leanne,

    I also have strong family history with mum having BRAC2 gene. Because of my age and strong family history all the experts expected me to have this gene and treated me as such. Last year was tested and to everyones surprise it was negative and I was too told that I was either one of the population to get breast cancer or their is another gene they do not know about. It was good to hear that I am not the only one.

    Take care,

    Rikki