Genetic testing for MBC

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Rosie24
Rosie24 Member Posts: 1,046
edited March 2019 in Stage IV/Metastatic Breast Cancer ONLY

I have a consultation appointment next week to talk about genetic testing. My oncologist asked about it at my first visit and seemed happy that I was scheduled. So much was discussed (and I was very stressed) that I didn’t ask her more about why it should be done. Does it impact our treatment at stage 4? Thanks for any help on this.

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

    Genetic counseling followed by appropriate testing may reveal a BRCA mutation. If that is present, you may be a candidate for a new type of treatment involving PARP inhibitors.

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  • Rosie24
    Rosie24 Member Posts: 1,046
    edited February 2019

    vinrph,Thanks for the info.

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  • pajim
    pajim Member Posts: 2,785
    edited February 2019

    Rosie, I assume (like vinrph) that you are going for the BRCA and PALB2 testing. There's also the genetic testing of the tumor itself, looking for mutations that are actionable.

    HER2 is just one of the mutations. There are a couple of others that have drugs. They aren't very common but they do happen.

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  • Rosie24
    Rosie24 Member Posts: 1,046
    edited February 2019

    Thanks pajim. I’d be curious about the BRCA gene even though I have sons, not daughters, and I’m already diagnosed with bc. No other women in my family have had breast cancer, but my father did in his 80s. I’ve heard mixed medical opinions on whether that is considered a hereditarylink to me. Being stage IV it seems too late to be finding out what my chances of breast cancer or recurrence are, as my booklet from the hospital stated.


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  • ShetlandPony
    ShetlandPony Member Posts: 4,924
    edited February 2019

    Perhaps the occurrence of male breast cancer in the family has prompted BRCA testing. A positive result would mean addressing your risk of ovarian cancer and notifying family members. And there are other genetic mutations, other than BRCA, that increase a person’s risk for breast and other particular cancers. If you are young with cancer, your doc might suspect that a genetic mutation could be involved. If one is found, you would make a screening plan. It sounds daunting but knowledge is power.

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  • hiljflan
    hiljflan Member Posts: 4
    edited February 2019

    I have three daughters and this was the main reason my consultant ordered the test. I'm also considered quite young I suppose at 47. It came back negative which was expected but still a relief with my girls.

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  • Moderators
    Moderators Member Posts: 25,912
    edited March 2019

    Hi All,

    We are seeking individuals living with metastatic breast cancer (and preferably living in the mid-Atlantic US region) who wish to share their story in a video series about the importance of genetic testing and counseling We're also looking specifically to feature Ashkenazi Jewish and African American families to raise awareness of their at risk status. Please PM the Mods or go here to learn more!

    Thanks!

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