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Has anyone had a VUS for VHL ended up with BC ?

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hangin
hangin Member Posts: 20
edited January 14 in Genetic Testing

Hi Friends ~ While waiting for my BC diagnostic & pathology reports, I paid to have BRCA 1&2 testing done through Life Labs here in 🇨🇦 which use INVITAE in California (I tested negative for both BRCA 1&2) I then had an additional panel evaluate 47 genes & received the following result.

"A VUS, identified in VHL. VHL, Exon 2, c.373C>T (p.His125TYR), heterozygous, Uncertain Significance. The clinical significance of the variant identified in this gene is Uncertain".

"This missense change has been observed in individuals with personal and/or family history of breast and/or ovarian cancer (PMID:31159747). In summary the avaible evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a VUS".

So I was wondering if anyone else had this show up in their genetic results. Wishing you all the best of everything always 🤗

Comments

  • exbrnxgrl
    exbrnxgrl Member Posts: 4,853
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    Yes, I had a variant of unknown significance show up as well. I recall others mentioning it as well. No much else to say at this point but I certainly wouldn’t worry.

  • hangin
    hangin Member Posts: 20
    edited January 14
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    Hello Exbrnxgrl ~ thank you for responding, I really appreciate it. The VHL gene, of VUS really peaked my interest since my mum had BC before 50 & my sister had an excision for UDH 10 years ago. Along with 2 cases of BC on my Father’s side (my aunt & cousin) Thanks again for reaching out. Wishing you the best of everything always. 🤗

  • kaynotrealname
    kaynotrealname Member Posts: 401
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    I have not had a variance of unknown significance but my maternal aunt who has ovarian cancer did. It was in BRCA1. The variant at the moment is considered "probably benign" but the word is still out on it. My genetic counselor told me the VUS's 95% of the time turn out to be benign differences within the human body.

  • hangin
    hangin Member Posts: 20
    edited January 14
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    Hello Kaynotrealname ~ thank you for responding I really appreciate it & I am sending you & your aunt bundles of good vibes. Wishing you the best of everything always. 🤗

  • mandy23
    mandy23 Member Posts: 111
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    Hi hangin -

    I also had a Variant of Uncertain Significance Identified. I also went through INVITAE. Mine was a different one than VHL, but I think the end result is the same. My Genetic Counselor said it likely would eventually be determined to be benign and because it has not been a determining factor in predicting cancer, it is nothing to worry about. It can sometimes change in the future to later be determined a predictor, but it is unusual.

    My MO also said it is nothing that can be used for prediction or treatment.

    So….basically it says … nothing…. 🙂

  • hangin
    hangin Member Posts: 20
    edited July 2023
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    Hello Mandy23 ~ Thank you for responding its greatly appreciated. I must admit I am starting to feel better about this whole VUS thing, after reading comments from others like yourself sharing their insight / experience(s). Thanks again you for reaching out. Wishing you the best of everything always 🤗