Top Tweets for #PMS2
This one flew under the radar with all the RAS(ON) inh #daraxonrasib coverage at #AACR26: induction of MSI-H w/CRs to #ICI in preclinical cancer models testing first-in-class #PMS2 inhibitor
https://t.co/vy0v5TDvA9
@OncoAlert @AACR @CD_AACR @RenoHemonc @manjuggm @ElizSMcKenna
Simultaneous publication online now by #AACR26 speaker @Albert0Bardelli and colleagues: Pharmacological Inhibition of PMS2 induces MMR deficiency and response to immune checkpoint blockade https://t.co/7y82UnB9vN @BardelliLab @IFOMresearch
March 22nd is #𝗟𝘆𝗻𝗰𝗵𝗦𝘆𝗻𝗱𝗿𝗼𝗺𝗲𝗔𝘄𝗮𝗿𝗲𝗻𝗲𝘀𝘀𝗗𝗮𝘆! Lynch Syndrome is due to inherited mutations in #MLH1, #MSH2, #MSH6, #PMS2, and #EPCAM. Did you know that 1 in 279 individuals have #LynchSyndrome, yet only 5% know they are positive for #LynchSyndrome?
This report discovers how pseudogene PMS2CL can skew the frequency distribution of a PMS2 variant in individuals of African genetic ancestry https://t.co/hEW9j3sf9y #GIMO #PMS2 #LynchSyndrome #PMS2CL #Pseudogene #PseudogeneInterference #TumorTesting #GermlineGeneticTesting
My favorite ship❤️🫶. Aside JJD, these two are the reason why I am glued to my phone 24/7. Jeychrys and Thessy to the whole wiase. You see maturity in Thessy 🥰. She is a real gee. #pmextra #Tv3GH #pms2 #perfectmatchextra #trending
In honor of #ColorectalCancerAwarenessMonth, we are re-posting about a study among #LynchSyndrome patients that found
- Lower risks in #MSH6 & #PMS2 carriers
- Longer #colonoscopy intervals possible
- 1/3 of detected cases due to incomplete #polyp removal
https://t.co/hGkO6EwjM4
"Novel high-throughput functional models for #MLH1, #MSH2, & #PMS2 have high accuracy for clinical variant classification" #DavidStafford @Invitae @TheACMG #ACMGMtg24
- #Lynchsyndrome, heritable #CRC, is 2/2 PGVs in mismatch repair (MMR) genes
- Multiplex assays of variant effects (#MAVEs) are high-throughput cellular assays for functional data in variants
- Supervised #machinelearning found patterns in scRNA expression profiles that distinguished pathogenic (P) & benign (B) variants
- 99% of MAVE variants predicted variants as a high-confidence P (PPV ≥95%) or B (NPV ≥95%) classification.
- High-throughput MAVE models provide a high-quality source of functional evidence for variant classification in #germlinetesting of #patients w/ #colorectalcancer
https://t.co/cLUUTQQUxu
#access #germline #genetictesting #AI #LynchSyndrome #precisioninterpretation #precisiontherapy #clinicaltrials #precisionprevention #ColorectalCancerAwarenessMonth @CGAIGC @FightCRC
#Lynchsyndrome #patients w/ #PMS2 PGVs on #germlinetesting have an attenuated clinical presentation vs #LS #patients w/ PGVs in other genes, per 17K #patient study.
Reinforces #universal #germline #genetictesting for all #patients w/ #colorectalcancer as standard of care, especially when <6% of #CRC #patients currently receive it (https://t.co/5xI6LyP7Vf @JAMANetworkOpen) & ~90% of #patients w/ #LS don't know they have it, i.e. missed opportunity for #cancerprevention
https://t.co/aY2KbqdEQU #GI24 @ASCO @Invitae
https://t.co/YTkI1WGs2c @VJOncology @CGAIGC
#access #reducedisparities #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention
"One of these is not like the others: A descriptive study of the attenuated phenotype of #PMS2" @ASCO #GI24 underscoring importance of #universal #germline #genetictesting for all #patients w/ #colorectalcancer, as not all #Lynchsyndrome genes are created equal
#access #reducedisparities #germlinetesting #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention #earlyonsetCRC @Invitae
https://t.co/A1l0m9bPVY
"Partial colectomy followed by endoscopic surveillance is appropriate to treat #colorectalcancer in carriers of low-risk #Lynchsyndrome variants (#MSH6-#PMS2)."
As opposed to #MLH1 #MSH2- associated CRC, where extensive colectomy seems warranted. https://t.co/F2z24lIalq
@bhealdleach @Invitae presenting "One of these is not like the others: a descriptive study of the attenuated phenotype of #PMS2" during the @CCAREfightlynch Poster Walk @CGAIGC #CGAIGC23
A study found:
• #Colorectalcancer risks were lower in #MSH6 & #PMS2 carriers
• #Colonoscopy intervals for these carriers could be longer
• Incomplete #polyp removal may be responsible for 1/3 of surveillance-detected #colorectalcancers
Learn more at https://t.co/hGkO6EwRBC
100% of #Endometrial #cancer cases in Lancashire & South Cumbria now get #MMR by #IHC @LancsHospPath & #MLH1 hypermethylation #analysis #MLH1 #MSH2 #MSH6 #PMS2 #POLE & #NTRK fusion by #NGS @NWGLH, as per the #genomic #test #directory 🧬 #lynch #transformation
Implementing universal upfront multi-gene panel testing in endometrial cancer: From cost to practical considerations https://t.co/f9K7qxxW9K
Do you have #Lynchsyndrome or an inherited mutation in one of these genes: #EPCAM #MLH1 #MSH2 #MSH6 #PMS2? Join us via Zoom on May 16th at 7:00 pm CDT to share, ask questions or just listen in a safe, supportive environment. Register: https://t.co/KrCyEHlosL #hereditarycancer
Next up at #PMS2 our very own @ant_dunc presenting the first paper from his #PhD on ocean #microbiomes based on meta-genome assembled genomes @uniofeastanglia @ueaenv
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