Top Tweets for #Chek2
#leusm #DDR_pathway #TP53 #PPM1D #CHEK2
Not all DNA damage response mutations are created equal:
TP53 carries the worst prognosis (master executor for leukemogenesis)
PPM1D (feedback brake: Partially phenocopies TP53 but without genomic chaos) : hallmark therapy-related mutation: strongly selected by platinum and topoisomerase II inhibitors, with intermediate prognosis better than TP53m
CHEK2 is unique as a germline, familial weakest leukemia driver;
autosomal dominant loss-of-function variants cause earlier-onset AML/MDS with familial clustering.
All three are CHIP drivers shaped by prior therapy; TP53 and PPM1D clones expand aggressively after chemo-XRT;
while CHEK2 contributes modestly ππ½
@MmisterNobody Im sitting in oncologist waiting room. 8 year follow up after #BreastCancer at 40, First Mammogram.
continuation of pharmaceutical estrogen suppression 2 more years...
...i have #Chek2 and 3 other genetic mutations of unknown significance. I meet w genetics group next week...
"...~15% of #lungcancer #patients harbor pathogenic #germline variants, most frequently in #BRCA2, followed by #CHEK2, #ATM, #TP53, #BRCA1, & #germline #EGFR mutations. #Therapies directed at these driver genes represent the cornerstone of #precisiononcology for #NSCLC, w/ significant advancements continuously being made in this domain."
c/w
https://t.co/n2gtyTscA5 #DrStevenSorscher et al. @JCOPO_ASCO @ASCO
#Universal #germline #genetictesting for all #patients w/ #lungcancer
#access #reducedisparities #germlinetesting #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention
https://t.co/XcnbVNo8sP #HuanLiu et al. #HumanVaccinesandImmunotherapeutics @WeAreTandF
6% of #patients w/ #DCIS had PGVs on #germline #genetictesting inc. #ATM #BRCA2 #PALB2 #CHEK2
Study supports continued #genetictesting of #patients w/ #DCIS (& all #patients w/ #breastcancer) c/w @ASBrS guidelines
i.e. #Universal #germlinetesting of #patients w/ #breastcancer
c/w
https://t.co/CNac7Ra4tl @beitsch et al. @JCO_ASCO
https://t.co/hVYDGUHgbt @WhitworthMD et al. @JAMANetworkOpen
https://t.co/wa8YmWUWs3 @VivekSubbiah @Dr_R_Kurzrock @JCO_ASCO @ASCO
#access #reducedisparities #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention
https://t.co/1Cd5AIOJmt #DrJessicaDzubnar et al. @AnnSurgOncol
3% of 23K unselected participants w/o #breastcancer (#WISDOM trial) had pathogenic variants (PVs) on #germlinetesting in #BRCA1,#BRCA2,#PALB2,#ATM,#CHEK2,#CDH1,#PTEN,#STK11,#TP53
"30% of women w/ PVs...would be unlikely to be offered #genetictesting under current guidelines."
"...identification of #BRCA1, #BRCA2, & #PALB2 PV carriers w/o a family history of #breastcancer highlights...gap in testing guidelines."
"...higher prevalence of #PALB2 PVs in non-Hispanic Black participants..."
"...several studies...with unrestricted #germlinetesting...have not identified major harms...."
"These findings support the feasibility and acceptability of criteria-independent [#universal] #genetictesting for a diverse group of women [unaffected w/ #breastcancer]...broaden[ing] the group who could benefit from evidence-based cancer surveillance and risk-reduction interventions."
#Universal #germlinetesting for all #patients w/ #breastcancer
#Universal #germlinetesting/#screening for all women for #breastcancer risk?
cit.
https://t.co/hVYDGUHgbt @WhitworthMD et al. @JAMANetworkOpen
#access #reducedisparities #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention
https://t.co/d5Edr1LdYP #DrKirkpatrickFergus et al. @UCSF @JAMAInternalMed
26.2% of #patients w/ #sarcoma had PGVs on #germlinetesting inc. genes #TP53, #BRCA2, #CHEK2, #NF1, #SDHA, #BRIP1, #POT1, #RB1, #CDH1, vs. 10% PGVs in unaffected control #patients
"...we suggest expanding current guidelines to include multigene panel [#genetictesting] for all #patients diagnosed w/ #sarcoma...to enhance personalized #cancer care & improve survivorship strategies for individuals w/ these rare tumors."
c/w
https://t.co/79KmVe0Ame @IJMS_MDPI
https://t.co/SZKtSENn94 @JAMAOnc
https://t.co/L54aNVQePS @JCOPO_ASCO
https://t.co/wa8YmWUWs3 @VivekSubbiah @Dr_R_Kurzrock @JCO_ASCO @ASCO
#access #reducedisparities #rarecancer #universal #germlinetesting #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention
https://t.co/R7ZejZmM6o #AdelaRodriguezHernandez et al. @JNCI_Now
13% of #pediatric #patients w/ #cancer had a pathogenic germline variant (PGV), 4.4% had PGV on #germlinetesting in an adult-onset Cancer Predisposition Gene, inc. #patients w/ #Lynchsyndrome, #ATM, #BRIP1, #CHEK2
#Universal #germline #genetictesting for all #pediatric #patients w/#Cancer
#access #reducedisparities #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention
https://t.co/naFjHseT5O #MichelleJacobs et al. @JCOPO_ASCO @ASCO
Heba Ali, PhD (@HebaAli33153092), from the Dmello Lab is presenting during the Rapid Oral IV A session in the Kamehameha Exhibit Hall II and III at 11:40 am HST. Make sure to catch her presentation on #CHEK2. #SNO2025
6.3% of #pediatric #patients w/ #cancer had PGVs on #germline #genetictesting, in #TP53, #NF1,
#BRCA2, #ATM, #CHEK2, #BRCA1, & #RB1
"...#germline variant detection rate from #PediatricMATCH is clearly an underestimate..."
Tumor variant fraction, tumor type, & adult-oriented guidelines were not predictive of #germline status
"...42.9% of #germline-positive cases did not meet the original @myESMO recommendations..."
#Universal #germline #genetictesting for all #patients w/ #cancer includes #pediatric #patients
c/w
https://t.co/tFSemI4b2i @JCOPO_ASCO
https://t.co/wa8YmWUWs3 @JCO_ASCO @VivekSubbiah @Dr_R_Kurzrock
#access #reducedisparities #germlinetesting #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention
https://t.co/oDlqqJTnLL #SarahScollon et al. @JCOPO_ASCO @ASCO
#Germlinetesting identified PGVs in >10% #patients w/ #NSCLC/#lungcancer, in #BRCA2, #CHEK2, #ATM, #PALB2, #BARD1, #XRCC2, #MRE11, #NBN, #FAN1, #MLH1, #TP53
These findings highlight the potential role of #germlinetesting...in improving #prevention, #earlydetection, & #management strategies in #NSCLC
c/w
https://t.co/n2gtyTscA5 @JCOPO_ASCO @ASCO
#Universal #germlinetesting for all #patients w/ #lungcancer?
#access #reducedisparities #genetictesting #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention
https://t.co/ovlZNJU5lw #DrMarΓaZurera et al. @ClinicalLung
20β30% of #lungcancer cases occur in never-smokers
16.5% of Indian #patients w/ #NSCLC & family history have pathogenic #germline variants (PGVs)
...most PGVs in DNA damage response genes #ATM, #BRCA2, #CHEK2, etc.
...clinical characteristics of #patients w/ & w/o PGVs showed no statistically significant differences
#Genetictesting in such individuals may be relevant for screening strategies...newer therapeutic avenues specially the use of #PARPi
c/w
https://t.co/n2gtyTscA5 #DrStevenSorscher et al. @JCOPO_ASCO @ASCO
#Universal #germlinetesting in #patients w/ #lungcancer
#access #reducedisparities #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention
https://t.co/R8CqYds0QO #AayushiAgrawal et al. @ClinicalLung
"Latest from #StGallen2025: New #Genetics refine #BreastCancer risk management. #BRCA mandates surgery, #PALB2 consider, #ATM #CHEK2 get MRI. #DrAvinashTalele #RestoraOncocareCenter #Oncology #ProfAndrewTutt #BreastCancerExperts"
There are currently no specific recommendations for #germlinetesting for #patients w/ #lungcancer. A recent study in the United States, however, revealed that ~15% of #patients w/ #lungcancer had pathogenic germline variants, most commonly #BRCA2, followed by #CHEK2, #ATM, #TP53, #BRCA1 & #germline #EGFR mutations.
https://t.co/bVIxkvmU6O @Annals_Oncology @myESMO
citing
https://t.co/n2gtyTscA5 @JCOPO_ASCO @ASCO #DrStevenSorscher et al.
#Universal #germline #genetictesting in #patients w/ #lungcancer, the time is now.
#access #reducedisparities #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention
A meta-analysis study looking at prior studies of #PARPinhibitors in those with metastatic castration-resistant #prostatecancer showed the greatest benefit in #BRCA carriers and no benefit in #ATM or #CHEK2 carriers. Learn more at β€Έ
https://t.co/jnaMUGKZoq
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