BRCA1+ but no family history

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millee_moo
millee_moo Member Posts: 7
edited December 2017 in High Risk for Breast Cancer

I ordered a 23andMe test along with my parents for fun. I just glanced at my raw data for BRCA genes and found I had the high risk BRCA1 deletion. I have lots of women on both sides of my family (aunts, cousins, etc...) and all lived to old age with no health problems. No one was diagnosed with or died from any type of cancer at all. I had my parents check and I got it from my dad. I am making an appointment with a genetic counselor to be tested with an approved method, but my mind is spinning and I'm extremely scared. Is it possible to have this mutation and not be at an increased risk due to family history? My parents are pretty convinced that since no one has had it I don't need to worry too much, but I'm not so convinced.

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  • ravzari
    ravzari Member Posts: 277
    edited September 2017

    It can be a spontaneous mutation so it doesn't necessarily matter if you have a family history or not.

    Edit to clarify: It's much,much more likely that one parent has the mutation and just isn't aware (that'd be common if your dad is a carrier as it doesn't seem to raise much risk for men where breast cancer is concerned), but there is also a possibility (albeit a very low one) for it to happen spontaneously.

    If you have the mutation, there is no possible way you'll be considered to not have a high risk for developing breast cancer at some point in your life; both BRCA1 and 2 mutations can also raise chances of ovarian cancer as well.

    From: https://www.mskcc.org/cancer-care/risk-assessment-...

    "On average, women with an altered BRCA1 gene have a 50 to 85 percent risk of developing breast cancer by age 70. Their risk of developing ovarian cancer is 40 to 60 percent by age 85. "

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  • exercise_guru
    exercise_guru Member Posts: 716
    edited September 2017

    I would definitely follow up with a geneticist but I am confused. what were the results for your parents if you all were tested. In my situation I came back positive for PALB2 and my mom was tested by the geneticist and found to be negative for this. We assume it came from my father as he passed away and has no brothers or sisters so we have no one to test. How these genes work is it either comes from one or the other parent. I have never heard of a spontaneous gene with BRCA. If the parent has it then the child has a 50% chance of having it.

    There are also a lot of false positives in some tests so you would definitely want to make sure before you purse this.

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  • millee_moo
    millee_moo Member Posts: 7
    edited September 2017

    Definitely following up with a genetic counselor as soon as I can get an appointment (I found out after they had all closed for the day). I am Ashkenazi descent so hopefully that allows insurance to cover it. My dad has the same mutation as I do. He has a sister (age 70) who has a daughter (age 40), so if I'm positive they will probably want to be checked. His mother died of natural causes around age 90.

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  • MTwoman
    MTwoman Member Posts: 2,704
    edited September 2017

    mille_moo, I do believe that Ashkenazi heritage allows insurance to cover genetic testing. ChiSandy knows more about this, so I'd direct specific questions to her. Also, you most definitely want a genetic counselor involved; that is a severe draw back to the 'do it yourself' variety of testing.

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  • ravzari
    ravzari Member Posts: 277
    edited September 2017

    Ashkenazi heritage should make it covered, as others have said; I know when I was having exams and tests done they kept asking on every form or in every conversation if I had any Ashkenazi heritage, and my insurance policy actually specifically states genetic testing is covered for those with Ashkenazi heritage (though, all plans differ, so definitely check first!).

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  • millee_moo
    millee_moo Member Posts: 7
    edited December 2017

    Updating: I got my real results back a few weeks ago, they are positive and I do have the mutation. Insurance covered the test in full. I have started a screening plan and will have surgery in the next few years as well. Thank you all for the support!

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  • Denise-G
    Denise-G Member Posts: 1,777
    edited December 2017

    millee-moo - Wow, I just read your story. I am sorry you have the mutation, but find it quite interesting that the 23andme test alerted you. My sister and I have the Chek 2 gene mutation, so I am interested in genetics. Wishing you only the best as you go forward.

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