Nov.30/23
🍁 In the meantime... “Genetic Overview & Subtyping of VHL”?
I haven’t had a genetic test for VHL yet after all these years, but I recently talked to a doctor about getting one. In the meantime, I found this 20 minute talk (from the VHL Family Weekend 2022) informative and like my intro/overview before seeing a Genetics Counsellor.
I noted the sections of the talk* that a slide. I personally found #4 interesting
- History –VHL gene in 1993
- VHL Overview- Early detection…
- Early symptoms- change in strength and balance
- VHL is a tumor-suppressor gene- tumor suppressor genes the most seen in cancer
- “Features and lifetime risk of VHL” (13:19)
- see slide, “laundry list” by presenter, different studies, higher or lower risk of certain manifestations might depend on “subtype” (certain mutations) see next slide
- Subtypes- early , higher pheo risk, ‘we’re not there yet,’ mutation correlation with genotype (used for academic purposes only- Slide
- Clinical Criteria – e.g. more than 1 hemangioblastoma, no genetic diagnosis, but has positive family history
- Genetic Counseling and testing issues – ‘mosaicism’ difficult
- Incidentals- other genes can increase risk of certain tumours
- Genotype and phenotype association- diagram, “subtypes” not definitive still risk of other symptoms...
*Genetic Overview & Subtyping of VHL | VHL Alliance Family Weekend Conference Oct. 2022, Nicki Chun, MS, CGC
only 4:22 to 25:41
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25:05 – [“My role" …Dr.Chun at Stanford Medical Centre, Palo Alto, California, USA] “after VHL positive testing...if they have a finding they get referred into our special Clinic with Dr. Justin Annes* and I work with him in that clinic so we manage the people that have VHL and help use the genetic information to help family members too so that's my role is to to do the testing if it hasn't been done um to explain the clinical implications to explain what it means for family members and what's the logical way to use this information to help relatives who has the highest risk and you know who can we eliminate you know depending on test results…”
**Dr. Justin Annes "specializes in the treatment of hereditary endocrine disorders with particular focus on neuroendocrine-related conditions.,,"
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