BRCA Negative. Is there more?

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pennychild
pennychild Member Posts: 12
edited October 2016 in High Risk for Breast Cancer

My mom was dx with BC when she was 45 and died at age 56. Her sister (my aunt) was also dx with BC, and she died of brain cancer at age 49. Neither of them were ever tested. I had BRCA testing and was negative. My sister has refused testing unfortunately.

A screening MRI showed something (mammogram was negative), so I am in the testing phase now and praying it is another fibroadenoma. The breast specialist I saw said that she wouldn't recommend further genetic testing because I'm not a candidate for a prophylactic mastectomy. I have a clotting disorder and can't come off blood thinners without a lot of risk (I've had dvts, pulmonary emobolisms, a stroke...). I didn't explore the prophylactic mastectomy question with her further. In all honesty, I wish I had hadmy breasts removed 4 years ago when I had my chest cracked open to remove blood clots.

At any rate, what other genetic testing is there? I thought BRCA was really all they knew for sure increased risk (pardon my ignorance!).

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  • jctreehugger
    jctreehugger Member Posts: 31
    edited October 2016

    Hi pennychild, I am so sorry about your mom and aunt. I am glad your MRI was negative. I was diagnosed at age 48. To know whether I was passing gene mutations on to my 13-yo daughter, I had some blood drawn this summer for testing for the currently known genetic mutations associated with breast cancer. Through my oncologist I was sent to a genetic counselor, and they took a blood sample and sent it to the testing lab (Invitae) who checked for the following gene mutations, which they called the "breast cancer high risk panel".

    ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, STK11, TP53

    We often hear about BRCA genes being associated with breast cancer, but there are a number of others, and that's why they tested for all these mutations. I worked with a genetic counselor who recommended these for me.

    My insurance would cover these tests if a blood relative has BC, so my sisters and mom can get the test covered, but ironically not for me. So I will be paying a max of $100 out of pocket for the test, but it is worth it to know. Mine were all negative for those mutations, which I interpret to mean that my BC is more environmental than genetic. At least as far as we know.

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  • ladybugmommy2010
    ladybugmommy2010 Member Posts: 56
    edited October 2016

    I pray that your MRI is negative. I am BRCA negative as well but was told by some ladies in another group that I'm in that you can get the prophylactic breast mastectomy when you are high risk.



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  • ravzari
    ravzari Member Posts: 277
    edited October 2016

    ladybugmommy2010 depending on what your insurance requires, being BRCA positive may or may not be a requirement for a prophylactic BMX.

    My insurance company didn't require BRCA testing and only required that there be a "strong family history" of breast cancer to qualify for a prophylactic mastectomy being covered, so I had mine done before I ever did any genetic testing. Some insurance plans may require a positive BRCA test first, so it's definitely worth checking, especially if you're considering a prophylactic mastectomy.

    Had the BMX in June, get the test results back from genetic testing (they did the BreastNext panel for me, which tests for 17 different mutations, including BRCA 1 & 2) in about 3 weeks, but either way, I know I won't regret the mastectomy as--even if it was just a string of bad luck and my genes aren't any mutations that cause a heightened cancer risk--there was a strong family history and I didn't want to risk it.

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  • pennychild
    pennychild Member Posts: 12
    edited October 2016

    thank you for the kind words and information! I will definitely talk to my dr about the further genetic tests.

    I am scheduled for an ultrasound guided biopsy this week. Right now I am not a candidate for prophylactic BMX because of other health conditions (blood clotting disorder and pulmonary hypertension). I can only pray that the biopsy is B9

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  • ladybugmommy2010
    ladybugmommy2010 Member Posts: 56
    edited October 2016

    Thank you so much anw. Mine is the same strong family history. My sister has an unidentified gene. She had breast cancer at 26. My dad's side is mainly what makes my family history strong. I have only one aunt on my maternal side that had breast cancer and passed away in 2014.

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  • MelissaDallas
    MelissaDallas Member Posts: 7,268
    edited October 2016

    Ladybug, it is a lot more than breast cancer. My dad's mom & sister both had colon cancer. Daddy grows big polyps fast. When I was diagnosed with ovarian cancer then LCIS in a year they looked at several genes for me, and actually tested those before theychecked BRCA genes bevause they thought the others were much more likely than BRCA.

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