Top Tweets for #MSh2
Breaking post-#ASCO25 publication!
>1:8 #patients w/ #gastriccancer/#GC have PGVs on #germlinetesting
35% HRR genes #BRCA1, #BRCA2, etc
17% MMR genes #MLH2, #MSH2, etc
>91% of positive #patients had clinically actionable PGVs based on management guidelines or active #clinicaltrials
"These results support consideration of #genetictesting in all #patients w/ #GC..."
https://t.co/930m1CT8er @OphirGilad et al @UCCancerCenter @JCOPO_ASCO @ASCO @CGAIGC
#access #reducedisparities #universal #germlinetesting #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention
"#Genetictesting of an #unselected #gastriccancer cohort: Uncovering #germline mutations and their #clinical #implications."
#Germline PVs in 8.7%, including: #BRCA2 (2.9%), #BARD1 (1.4%), #MSH2 (1.4%), #MSH6 (2.9%).
c/w
https://t.co/8yRiQfmcvi PVs in 17%, @PedroUson et al. @DDS_Journal
@SpringerNature
#access #reducedisparities #universal #germlinetesting #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention
https://t.co/lhILpckooE #ASCO25 @ASCO
CGP identified presumed #germline pathogenic variants (PGPVs) in 8-9% of #patients w/ #thoraciccancer, inc. #ATM #BRCA1 #BRCA2 #MSH2 #RAD51D #RET #VHL, Fukushima et al.
5 #patients w/ PGPVs had #germlinetesting, 100% confirmed PGVs
c/w Sorscher et al. https://t.co/n2gtyTscA5 @JCOPO_ASCO @ASCO @Invitae @Labcorp
https://t.co/jmHNuO3D2y @ClinicalLung
#access #reducedisparities #germline #genetictesting #lungcancer #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention
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?
Influence of preoperative #Lynchsyndrome (#LS) diagnosis (#germlinetesting [#GGT]) on #surgery in #patients w/ #colorectalcancer @abbassmohd @ASCO #GI25
32% of #LS pts w/ #CRC & #MLH1/#MSH2/#EPCAM, had GGT pre-surgery of which 49% had TC/TP
19% of #LS pts w/ #CRC & #MLH1/#MSH2/#EPCAM & post-surgery GGT had additional surgery for TC/TP (missed opportunity for TC/TP at time of #CRC surgical resection)
#Universal #presurgical #STAT #germlinetesting of #patients w/ #CRC
#access #reducedisparities #genetictesting #precisionsurgery #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention #AI #precisioninterpretation @Invitae #LabcorpGenetics @Labcorp
https://t.co/z48bvalLPt
![EdEsplin's tweet photo. Influence of preoperative #Lynchsyndrome (#LS) diagnosis (#germlinetesting [#GGT]) on #surgery in #patients w/ #colorectalcancer @abbassmohd @ASCO #GI25
32% of #LS pts w/ #CRC & #MLH1/#MSH2/#EPCAM, had GGT pre-surgery of which 49% had TC/TP
19% of #LS pts w/ #CRC & #MLH1/#MSH2/#EPCAM & post-surgery GGT had additional surgery for TC/TP (missed opportunity for TC/TP at time of #CRC surgical resection)
#Universal #presurgical #STAT #germlinetesting of #patients w/ #CRC
#access #reducedisparities #genetictesting #precisionsurgery #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention #AI #precisioninterpretation @Invitae #LabcorpGenetics @Labcorp
https://t.co/z48bvalLPt](https://pbs.twimg.com/media/GiJnKqybsAANZ_4.jpg)
![EdEsplin's tweet photo. Influence of preoperative #Lynchsyndrome (#LS) diagnosis (#germlinetesting [#GGT]) on #surgery in #patients w/ #colorectalcancer @abbassmohd @ASCO #GI25
32% of #LS pts w/ #CRC & #MLH1/#MSH2/#EPCAM, had GGT pre-surgery of which 49% had TC/TP
19% of #LS pts w/ #CRC & #MLH1/#MSH2/#EPCAM & post-surgery GGT had additional surgery for TC/TP (missed opportunity for TC/TP at time of #CRC surgical resection)
#Universal #presurgical #STAT #germlinetesting of #patients w/ #CRC
#access #reducedisparities #genetictesting #precisionsurgery #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention #AI #precisioninterpretation @Invitae #LabcorpGenetics @Labcorp
https://t.co/z48bvalLPt](https://pbs.twimg.com/media/GiJnKqxaUAAOLOq.jpg)
July 17th is #GlioblastomaAwarenessDay! Although most #glioblastomas are not inherited, there are a few #inherited #genes that raise glioblastoma risk, including #TP53, #NF1, #APC, and the #LynchSyndrome genes, including #MLH1, #MSH2, & #MSH6. Learn more👇
https://t.co/WMSyx3M1IV
Independent prognostic value of #MSH2 in #CervicalCancer by @KyllesMari @IngfridHaldors1 @AkinyemiOjesina @HegeFBerg
📃@ https://t.co/WqZecmgmwc
@mohnfoundation @BergenMMIV @medofak_uib @haukeland_no
@pedroramirezMD @HsuMd @JayrajAarthi @AndreFernandes2 @IGCSociety @ESGO_society @ENYGO_official @OncoAlert @IJGCfellows @GynMe4
#IJGConline #Research #Prevention #Treatment #Diagnostic #GynCancer #GynOnc #WomenHealth #SoMe #SoMe4GynOnc
Excess #prostatecancer risk in this prospective study of men with #Lynchsyndrome. Standard incidence ratio >10 in #MSH2 #MSH6 carriers. >50% cancers have agressive features, such as Gleason >7 or pT3a/b stage. https://t.co/bmXBIOd1Rg
@logust79 @DrJennyLord @GenomicsEngland @GeCIPteam Exemplar1 is cryptic rearrangement that disrupts #msh2 found in 2 participants whom we suspect share common ancestor ~30 generations ago. @MRCHolland are testing probes for this variant so 🤞& will be interesting to find out how widespread it might be
Today is #WorldOvarianCancerDay! Did you know that germline #mutations in #BRCA1, #BRCA2, #PALB2, #BRIP1, #RAD51C, #RAD51D, and the #LynchSyndrome genes (#MLH1, #MSH2, #EPCAM, and possibly #MSH6) can increase the risk of #ovariancancer? Help spread awareness by sharing this post!
We did a thing #msh2
"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
🆕🗞️Just out
🪺#NEST-1 trial results👇🏾
Are we on the verge of a new drug combo for colon or rectal cancer?
Substantial & brisk responses to just☝🏾dose of BOT🟢➕BAL🔹🔹 immunotherapy.🙌🏾
Pattern & kill is unprecedented🌊.
@ASCO #GI24 @OncoAlert
Abstract 117📍Poster Board H2
Algorithm for MSI testing #pathtwitter #MSItesting #colorectal #uterine #braf #mlh1 #msh2 #msh6 #germline #lynch #sporadic
"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
New insights on the #MSH2 crossover regulation in response to genetic polymorphism just published @NatureComms from Ziółkowski Lab @Piotraz1 @UAM_IBMiB! Big congrats to Julia @dluzewskajulia, Piotr, @hendersi, @jamesdhiggins76 & rest of the team! #meiosis #geneticPolymorphism
Big congrats to Julia @dluzewskajulia who did a really incredible work 🤯👏and the whole team! @wojdzieg @SzymanskaLejman Monika Gazecka, plus our great collaborators @hendersi @jamesdhiggins76
Here is the PDF: https://t.co/4jvtp8Kkor
September is #OvarianCancerAwarenessMonth! Germline #mutations in #BRCA1, #BRCA2, #BRIP1, #RAD51C, #RAD51D, and the #LynchSyndrome genes (including #MLH1, #MSH2, and #EPCAM) increase the #risk of #ovariancancer.
#InheritedCancer #HereditaryCancer #Cancer
Recently graduated @MDA_UTHGRAD student Tolka Premkumar was lead author of a new @ColeFrancesca Lab study, published @MolecularCell, investigating the roles of #MLH3 and #EXO1 in homologous recombination during #meiosis. #HR #HEI10 #HFM1 #MUS81 #MSH2 #crossover
July 19th is #GlioblastomaAwarenessDay! Although most #glioblastomas are not inherited, there are a few #inherited #genes that raise glioblastoma risk, including #TP53, #NF1, #APC, and the #LynchSyndrome genes, including #MLH1, #MSH2, & #MSH6. Learn more👇
https://t.co/WMSyx3LtTn
Well, @ThanksCancer, I think I'll start with 2L. 🤣
Wish me luck!
cc: @marklewismd @cancer_warrior7
@pashtoonkasi
@BrandonMeyersMD
#CancerScreening #MSH2 #MMR #splitdoseregimen
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