Variant of Uncertain Significance in BRCA1

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alicia_en_madrid
alicia_en_madrid Member Posts: 149
edited March 2019 in Genetic Testing

My mom has metastatic breast cancer . She was first diagnosed at 49 and metastasis were found at 54.

Now her only sister has MBC too (diagnosed at 70). She never wanted to do any check-ups previous to the mets diagnosis.

Their only female cousin also has stage III BC, diagnosed in her midd- 50s.

That would make 100% of women in their family generation having (advanced) breast cancer. There are no more female cousins.

My mom was tested and the report sais Variant of Uncertain Significante un BRCA1.

How can that be managed? It is neither positive nor negative...Very confusing. She goes to the genetist expert every year to seré if there is more research on her mutation.

If you or any family member was also tested Uncertain to BRCA, I would appreciate if you could share the approach your medical team followed in your case.

I am worried about myself and my cousins. The oldest is 43 and I am the youngest (almost 35). I also have a brother.

Thank you very much for your input,

Alicia

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  • Traveltext
    Traveltext Member Posts: 2,089
    edited March 2019

    I have a VUS of BRCA 1. Until some research is done on the thousands of these variations, you will be none the wiser. However, given the high rate of breast cancer in your family, you should have regular checkups.


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  • vlnrph
    vlnrph Member Posts: 1,632
    edited March 2019

    Perhaps both of you might consider looking up the PROMPT study. You can join by sharing your BRCA variation.

    Withvolunteers pooling their data, the leaders hope to gain further knowledge regarding the significance of these more unusual mutations. It will help future generations make treatment decisions. The sponsors are a consortium of major US research centers/universities.

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  • april1964
    april1964 Member Posts: 223
    edited March 2019

    I joined prompt a while back since I have brca2 vus


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  • alicia_en_madrid
    alicia_en_madrid Member Posts: 149
    edited March 2019

    Thank you for the replies. The last time my mum was to the genetist, It wasn't VUS anymore, but "likely pathogenic". I guess they gathered more data in those years. I could not find the exact mutation on the reports she just gave me (it is incomplete), but I hope I can ask for it.

    It the meanwhile, I am going to do the genetic test my self. It cost about 575 euros in my city (Madrid, Spain) and It checks 18 genes.

    I Will post the results

    Alicia

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  • santabarbarian
    santabarbarian Member Posts: 3,085
    edited March 2019

    Is there any study for people with other variations of unknown significance to join? I have one on TP-53.

    In my tumor tissue, the systemic variant I have was present, plus a second TP-53 variant known to be pathogenic.

    I am happy to join any studies that can help researchers understand BC better.


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