Double mutation

Danaw24
Danaw24 Member Posts: 4
edited February 2015 in Genetic Testing

has anyone had genetic testing done and received news that they have a mutation in both brca1 and brca2 genes?

I recently had genetic testing done because my family has a history of ovarian cancer on my mothers side.

My results came back that I have a mutations in both brca1 and brca2 genes.

Please share any information. Thanks!

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  • anneoftheforest
    anneoftheforest Member Posts: 52
    edited December 2014

    Hello,

    I'm BRCA2+ and I have heard of others that have both mutations on the FORCE website forum which mainly deals with BRCA1/2 www.facingourrisk.org. I'm sorry you learned you have both mutations. That must have been quite a shock.

    How did the genetic counselor access your risk? The highest percentage from each mutation?

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  • Danaw24
    Danaw24 Member Posts: 4
    edited December 2014

    hi,

    Thank you for referring me to the site. Yes, it was quite a shock. I figured I had at least one mutation because my mother is brca+ and had ovarian cancer. I didnt even know itwas possible to have two mutations. afterwards my father got tested and he tested positive for the other mutation.

    I am seeing a geneticist specialist in brca mutations. She said as of right now there are only 400 known people in the entire world that have two mutations so they are assessing the risk as the greater of then two. There is limited information and research right now

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  • jenjenl
    jenjenl Member Posts: 948
    edited December 2014

    Like you i didn't know that was possible! Come back once you have the appointment to educate us/me.

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  • Mutd
    Mutd Member Posts: 148
    edited December 2014

    It's quite rare for people to have a BRCA1 and a BRCA2 mutation at the same time, but not impossible. For one's personal health risks, it isn't thought to be markedly more dangerous than a BRCA1 mutation alone. I think it's because no matter how you look at the risk, BRCA1 alone speaks louder: if one looks for the scariest and earliest cancers (ovarian, premenopausal) then BRCA1 is disproportionately responsible, and if one gauges risks of all cancers over the entire lifespan, then BRCA1 is already kind of "close to 100%".

    Of the specific BRCA1 / BRCA2 mutation combos, 187delAG + 6174delT is the most common, because both of these mutations are unusually frequent among the Ashkenazi Jews. There must be over a hundred women worldwide with this specific combination alone...

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  • anneoftheforest
    anneoftheforest Member Posts: 52
    edited December 2014

    Danaw24 - That is great you have a genetic counselor that specializes in BRCA matters. It was hard for me to find out I had this mutation but I was thankful I could be proactive and I could get the necessary screening to catch anything early. After my BMX and BSO my cancer risk has gone down significantly and I am thankful for that. Prevention is a gift I think :)

    I hope you can find others on the FORCE site. The founder of the site Sue F. knows many BRCA+ people and possibly could get you in touch with people with both mutations if there aren't any active on the forum right now. There is a forum for young previvors and just a general forum. I think the general forum gets more traffic though and people check it out more often.

    I'm glad you reached out for support.

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  • igoldman12
    igoldman12 Member Posts: 1
    edited February 2015

    I was tested in the Spring of 2014 and found out I have the BRCA 1 and BRCA 2 mutations. Although my risk went from high to a littler higher...it is my children that are at greater risk. But we will cross that bridge when we come to it.

    I am 38 and had a hysterectomy and Ovary Removal in October and Double Matectomy in Decemeber. All pathology negative and I am in deep recover mode now!

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