BRCA "Missense" Mutation Anyone?

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jaspersmom
jaspersmom Member Posts: 10
edited June 2014 in High Risk for Breast Cancer
BRCA "Missense" Mutation Anyone?
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  • jaspersmom
    jaspersmom Member Posts: 10
    edited June 2008

    Hello Ladies, 

    Does anyone have a 'Missense' BRCA mutation?

    I have one - it's called "L204"  It is said to be of 

    unknown significance, and I'm trying to find others

    who might have the same mutation. The Myriad folks

    Genetics people told me it's pretty rare, and while they can't categorize it as 'irrelevent' they don't believe it's a 'bad'

    mutation. All of this means I'm in a gray area.

    Any others out there with this one?

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  • veggievet
    veggievet Member Posts: 72
    edited June 2008

    Hi Jasper,

    You might consider posting at FORCE (http://www.facingourrisk.org) there are threads about specific variants/mutations and you might find others with your variant.  Sorry about your inconclusive test results.  Make sure that you speak with a board-certified genetic counselor if you haven't already.

    Hugs and love,

    Sue

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  • Mutd
    Mutd Member Posts: 148
    edited August 2008

    Jasper, the full name of the variant is probably L204F? Anyway. Even with the corrected name, searching the Internet does not help too much. It is mentioned in a couple of Myriad publications, but that's about it. This is a serious issue with the rare genetic variants ... it just takes so long for the specific information about them to accumulate!

    At least you know that with what little data is already available, you are not near the red-hot dangerous end of the gray area. Did you have any relatives tested? Did the variant follow the cancer in the family?

    And, to second Sue, she's got a very helpful site. Take a note of this long thread on the FORCE forums, it has lots of discussions about specific mutations, and it may help you ask the right questions about your specific "Uncertain"

     http://www.facingourrisk.org/messageboard/viewtopic.php?t=15552

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  • jaspersmom
    jaspersmom Member Posts: 10
    edited September 2008

    Thank you for the suggestion to check out the other message board. Yes a lot of chatter and frustration similar to mine. Anyway, am hoping that this thread will pick up someone else with

    our mutation. I say 'our' because my sister has it too. My mom passed away (no bc) and one maternal aunt who had bc in late life has also passed away.

    The Myriad folks say that if they change the conclusion on our mutation they'll notify our doctors.

    Well, here's hoping!  Yes it's L204F you're right by the way.

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  • Mutd
    Mutd Member Posts: 148
    edited September 2008

    Jaspermom, your mother passed way without bc, and her sister had cancer late in life? That's not how BRCA1 mutations work in most cases. The cancers are common in the carriers of full-blown BRCA1 mutations, and they strike earlier. Of course hysterectomies / oophorectimes were sometimes performed for reasons which had nothing to do with cancer preventions, but it would temper the rage of BRCA mutations. You wouldn't know if your mother had ooph for any reason?

     Anyway my point is that if you and your sister got the BRCA1 "Missense" from your mother, then this mutation probably has nothing to do with cancer. And if it came from the father ... and no cancer history in his family ... then it would lead to the same conclusion? Was he tested for the variant by the way?

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  • jaspersmom
    jaspersmom Member Posts: 10
    edited September 2008

    Thanks for your insight. My father did pass away from cancer - probably small cell lung but he was not a smoker (it spread by the time they found it). His sister, my paternal aunt died of lung cancer, she was a smoker. So there is cancer on his side too.  My mom did have a hysterectomy and probably her ovaries out in her 50's.  ANyway, with this post I'm kind of 'trolling' for others with the same mutation. I hope you are right though that it's not a deleterious mutation.  Cheers!

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  • jaspersmom
    jaspersmom Member Posts: 10
    edited February 2010

    Good news ......If anyone out there has the L204F mutation....Myriad has just upgraded it to a 'favored polymorphism'. It's good news; check it out with Myriad.

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  • jaspersmom
    jaspersmom Member Posts: 10
    edited July 2010

    Even more good news. This mutation has been REMOVED as a significant mutation. Yippeee!

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  • jaspersmom
    jaspersmom Member Posts: 10
    edited July 2010
    Even more good news. This mutation has been REMOVED as a significant mutation. Yippeee!
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