APC mutation

Lost two family members (both carried APC gene mutation that causes FAP) to Gastric cancer. 1 at age 42. The other age 50. They were both under the impression fundic gland polyps "rarely" became cancerous. 😢 (@lkiegerauthor)

Yes, for the APC gene mutation leads to familial adenomatous polyposis. It's the upper GI cancer risk that goes with the syndrome that has been so devastating. (@lkiegerauthor)

FAP is associated with an inherited mutation in the APC gene, yet in a third of cases there is no known family history of colon cancer or polyps. 2/3 #KnowYourGenes #KnowYourRisk #ColorectalCancerAwarenessMonth (@MelPalMD)

Familial Adenomatous Polyposis (FAP): >100 adenomas Usually requires colectomy to prevent CRC Attenuated FAP: 30-100 adenomas Can sometimes be managed w/frequent colonoscopy Caused by mutations in the APC gene 25% of APC mutations are de novo #ColorectalCancerAwarenessMonth (@HHampel1)

Mutation subtype (APC & CTNNB1, known assoc w worse prognosis) did not affect responses to specific systemic therapies in 257 #Desmoid 🧬APC mutations 💪 non-extremity tumours remain prognostic for worse outcomes 👏 @breelynwilkyMD @JTrentMDPhD #sarcoma @OncoAlert @ctosociety (@DrLizConnolly)

Computational analysis of 40,000 pts describes the association between 458 mutations & clinical outcomes & targeted therapies & #immunotherapy effect. APC mutation defined IO benefit in bladder cancer https://t.co/9uSjWIWhZm https://t.co/VD5KQ0Mqti (@jsoriamd)

Interesting study @SciImmunology 👉🏽 when it comes to ILC2s, the identity of the activating cytokine (IL-25 v IL-33) matters. An innate IL-25–ILC2–MDSC axis creates a cancer-permissive microenvironment for Apc mutation–driven intestinal tumorigenesis https://t.co/aEloWkoZuN (@Aiims1742)

9/ TME cell analysis using engineered CDKN2A, BRAF, TERT, PTEN, TP53, APC mutated cells to model melanoma pathogenesis @ScienceMagazine @ele_tt @johnkwon71 @LeviAGarraway https://t.co/EWvvXZC7A4 (@PerceptronMD)

Familial Adenomatous Polyposis (FAP): >100 adenomas Usually requires colectomy to prevent CRC Attenuated FAP: 30-100 adenomas Can sometimes be managed w/frequent colonoscopy Caused by mutations in the APC gene 25% of APC mutations are de novo #ColorectalCancerAwarenessMonth (@HHampel1)

Alternatively, what could we learn by comparing across species. Humans and mice carrying the same heterozygous APC mutation develop SI and colon tumors at wildly different rates. Very hard to believe this is cell intrinsic, but 🤷🏼‍♂️ (@dow_lab)

Mutant APC promotes tumor immune evasion via PD-L1 in colorectal cancer | Oncogene https://t.co/CvPputCyKO (@weldeiry)

Apc-mutant cells act as supercompetitors in intestinal tumour initiation | Nature https://t.co/FNatI8enmi (@weldeiry)