Has anyone had a VUS for VHL ended up with BC ?
Hi Friends ~ When I was waiting for BC diagnostic & pathology results. I paid to have BRAC 1 & 2 testing done through Life Labs here in 🇨🇦. They, use INVITAE in California (I tested negative for both BRAC 1&2). But decided to pay for a extensive panel of testing, which evaluates 47 genes. I 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 result show up in their genetic testing results. Wishing you all the best of everything always 🤗
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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.
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Hello Exbrnxgrl ~ thank you for responding, I really appreciate it. It’s just that I haven’t known or heard of anyone with specific VHL gene, of VUS. And when they enclosed this sentence in my results: “This missense change has been observed in individuals with personal and/or family history of breast and/or ovarian cancer (PMID:31159747).” It peaked, my interest since my mum had BC before the age of 50 (and sadly, passed away years ago unrelated to BC) And my sister had an excision for UDH 10 years ago. Along with my BC diagnoses last year. 2 cases of BC on my Father’s side (aunt & cousin). I'd be interested to see how many in this community tagged with a VUS for VHL, ended up with BC. Thanks again for reaching out. Wishing you the best of everything always. 🤗
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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.
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Hello Kaynotrealname ~ thank you for responding I really appreciate it & I am sending you & your aunt bundles of good vibes. The genetic counselor who spoke with me mentioned VUS, additional evidence needed to determine whether causative for particular disease(s). Given my family BC dynamic, it made me curious to know how many others may be tagged with VUS within the BC community. I was advised to reconnect with my counselor, in 2 to 3 years. Thank you so much for reaching out. Wishing you the best of everything always. 🤗
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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…. 🙂
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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 🤗
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