Having a rare genetic mutation is so much fun. /s

This morning I had an appointment with my surgeon to talk about a probable surgery to reduce my risk of colon cancer due to precancerous polyps due to the mutation. I have more than 100 and so a total colectomy has been suggested to me.

On a support group of carriers of this mutation someone in the US shared her experience with me. She had 300+ polyps removed, kept her colon, and has a colonoscopy every year (it is the same frequency for me).

My quest is now, from 🇨🇦, trying to get a second opinion from 1 of the gastrointestinal docs at the University of Pennsylvania in #Philadelphia. 💪

#cancer #PTEN

Happy #RareDiseasesDay to all #Spoonies! Einen schönen #TagDerSeltenenErkrankungen!

Obwohl Seltene Erkrankungen – wie der Name verrät – selten sind, leben allein in Deutschland rund 4 Millionen Betroffene, also 5% der hier lebenden Menschen. Ungefähr 80% der Seltenen Erkrankungen sind genetisch bedingt und viele der Symptome machen sich schon im Kindesalter bemerkbar.
Bei mir sind 33 Jahre ins Land gezogen, bis eine Mutation des #PTen Gens diagnostiziert wurde - natürlich ist man erstmal 1/×

Referenced link: https://medicalxpress.com/news/2023-04-mechanism-pten-deficient-breast-cancer.html
Discuss on https://discu.eu/q/https://medicalxpress.com/news/2023-04-mechanism-pten-deficient-breast-cancer.html

Originally posted by Phys.org / @physorg_com: http://nitter.platypush.tech/medical_xpress/status/1650846273291837441#m

RT by @physorg_com: Mechanism of #PTEN deficient breast #cancer detailed, suggesting improved therapeutics @nature https://www.nature.com/articles/s41586-023-05940-w https://medicalxpress.com/news/2023-04-mechanism-pten-deficient-breast-cancer.html