Share if you love someone with LFS!

#lifraumeni #lifraumenisyndrome #livinglfs #iamlivinglfs #lifraumenisyndromeawareness #p53 #tp53 #tp53gene #cancergenetics #geneticcancer #geneticmutation #rarediseases #cancerfighter #rarediseaseday #lfsawareness #rarediseaseday2026

Digital Health Tools Embedded in a #Cancer Genetics Clinic: Observational Study Background: Digital Health Tools (DHTs), including wearables and mobile apps, offer promising avenues for personalized care and real-time monitoring, but user engagement and clinical utility—especially in pediatric populations—remain unclear. Li-Fraumeni syndrome (LFS) is a genetic mutation in the TP53 tumor suppressor gene, predisposing individuals to #Cancer, requiring lifelong surveillance and associated psychological stress. Objective: We evaluated engagement with DHTs in a #Cancer genetics clinic for families affected by LFS and explored their utility for patients and clinicians. Our goal was to identify insights that could inform future integration of DHTs in chronic disease populations and contribute to research. Methods: We conducted an observational study (January-December 2022) involving patients with LFS and family members aged 5 years and older. Participants received an Empatica EmbracePlus smartwatch and a suite of self-report surveys assessing psychosocial well-being at varying frequencies (ie, daily, weekly, etc). We used survival analysis to characterize engagement over time across age, TP53 status, and previous #Cancer history. Generalized additive models were used to explore physiological patterns relative to #Cancer surveillance events. Semistructured interviews provided qualitative insight into user experiences and preferences. Results: We enrolled 9 children and 36 adults. Adults wore their smartwatches more often than children (mean 81%, SD 19% vs mean 56%, SD 26%; t10.1=2.72; P=.02) and were engaged in the study for a longer duration (median retention 153, IQR 119-179; 95% CI 133-177 vs median 77, IQR 36-151; 95% CI 17-171 days; log-rank χ21=4.4; P=.04). Daily wear time was similar between the 2 groups (mean 17.6, SD 3.1 hours vs mean 15.7, SD 2.9 hours; t13.2=1.70; P=.11). There were no differences in survey engagement between adults and children, nor were there differences in engagement across TP53 status or previous #Cancer history. Children reported greater psychosocial burden, with more depressive symptoms (PHQ-9 [Patient Health Questionnaire-9] score mean 10.0, SD 5.2 vs mean 4.2, SD 4.4; t7.8=2.8; P=.03), worse sleep (PROMIS SRI [patient-reported outcomes measurement information system sleep-related impairment] score mean 22.7, SD 5.9 vs mean 16.5, SD 5.5; t8.1=−2.58; P=.03), and increased frequency of stress (mean 36.3%, SD 19.9% vs mean 14.3%, SD 19.2%; t8.3=−2.7; P=.03) than adults. A suicide alert system was triggered in 5 participants (11%) and prompted timely clinical intervention. Generalized additive model analysis showed individualized yet consistent physiological patterns of stress associated with #Cancer surveillance. Qualitative feedback from participants identified perceived value in stress awareness, but highlighted challenges with device comfort, functionality, and personalization. Conclusions: DHTs are feasible and can capture clinically meaningful psychological and physiological data in high-risk pediatric and family populations with LFS. They enable timely detection of distress and facilitate targeted interventions. Our findings can inform best practices for patient-centered DHT integration into clinical care, with relevance to pediatric oncology and broader digital health contexts. Trial Registration:

JMIR Formative Res: Digital Health Tools Embedded in a #Cancer Genetics Clinic: Observational Study #DigitalHealth #CancerGenetics #Wearables #HealthTech #PatientEngagement

#lifraumeni #lifraumenisyndrome #livinglfs #iamlivinglfs #lifraumenisyndromeawareness #p53 #tp53 #tp53gene #cancergenetics #geneticcancer #geneticmutation #rarediseases #cancerfighter

Thinking of all our friends who know cancering doesn't take a break for the holidays 💙💚


#lifraumeni #lifraumenisyndrome #livinglfs #iamlivinglfs #lifraumenisyndromeawareness #p53 #tp53 #tp53gene #cancergenetics #geneticcancer #geneticmutation #rarediseases #cancerfighter

12 days till the holidays!
THESE are the 12 months of LFS! 💚🐘💙

#lifraumeni #lifraumenisyndrome #livinglfs #iamlivinglfs #lifraumenisyndromeawareness #p53 #tp53 #tp53gene #cancergenetics #geneticcancer #geneticmutation #rarediseases #cancerfighter

I’m happy to share that our work, “BUB1B monoallelic germline variants contribute to prostate cancer predisposition by triggering chromosomal instability,” has been selected for the Portuguese Society of Human
#cancergenetics #prostatecancer

#CancerGenetics people: I am looking for examples of tumor suppressor genes that are inactivated in cancers by regulatory mutations (non-coding) rather than coding mutations. Please share.

Just published! This ACMG clinical practice resource will help clinicians better support individuals with RAD51C, RAD51D, and BRIP1 variants in understanding their cancer risks and taking proactive steps to manage their health. tinyurl.com/mtfpvj78 #cancergenetics

A telomere-to-telomere map of somatic mutation burden and functional impact in cancer. #T2T #SomaticMutations #CancerGenetics #Genomics @biorxiv-genomic.bsky.social
www.biorxiv.org/content/10.1...

Dr. Walsh with 9News

✨Dr. Christine Walsh, a leading Gynecologic Oncologist at the University of Colorado Anschutz, recently appeared on 9News to discuss genetics' role in gyn cancers as well as share insights on ovarian cancer.

👉 Watch the full interviews here: bit.ly/3KNj0lv 

#CancerGenetics #GynOc #CUAnschutz

#lifraumeni #lifraumenisyndrome #livinglfs #iamlivinglfs #lifraumenisyndromeawareness #p53 #tp53 #tp53gene #cancergenetics #geneticcancer #geneticmutation #rarediseases #cancerfighter #genetictesting #LLFS #mentalhealth #breastcancerawareness #breastcancerawarenessmonth

Dr. Yeon Soo Kim receives NIH Pathway to Independence Award She studies how advanced prostate cancer evades treatment by altering the way RNA builds proteins

Congrats to Dr. Yeon Soo Kim for receiving the NIH Pathway to Independence Award. She studies how advanced prostate cancer evades treatment by altering the way RNA builds proteins.

#cancergenetics #cancer #cancertreatment #cancerresearch #fredhutch

Link to the Toronto Protocol: livinglfs.org/screening-th...

#lifraumeni #lifraumenisyndrome #livinglfs #iamlivinglfs #lifraumenisyndromeawareness #p53 #tp53 #tp53gene #cancergenetics #geneticcancer #cancerfighter #breastcancer #breastcancerawarenessmonth #breastcancer #feelitonthefirst

#lifraumeni #lifraumenisyndrome #livinglfs #iamlivinglfs #lifraumenisyndromeawareness #p53 #tp53 #tp53gene #cancergenetics #geneticcancer #geneticmutation #rarediseases #cancerfighter #childhoodcancerawareness #childhoodcancerawarenessmonth #pediatriccancer #childhoodcancer #gogoldinseptember

🎯 #ExomeSequencing #CancerGenetics ➡️ HUGE find: A breast cancer mutation occurring at a *higher* frequency in 🇮🇳 patients compared to Western data. Could be a "founder mutation" – a genetic change common to a specific population.

#lifraumeni #lifraumenisyndrome #livinglfs #iamlivinglfs #tp53 #tp53gene #cancergenetics #geneticcancer #geneticmutation #rarediseases #cancerfighter #childhoodcancerawareness #childhoodcancerawarenessmonth #pediatriccancer #childhoodcancer #gogoldinseptember #BrysonBrave

Our applications for the 2025 Fall Living LFS Spring Hardship Grants are now closed!

If you'd like to contribute to Living LFS Hardship Grants donate here:
livinglfs.org/donate/ .

#lifraumenisyndrome #livinglfs #iamlivinglfs #cancergenetics
#LLFShardshipgrants #hardshipgrants

#lifraumeni #lifraumenisyndrome #livinglfs #iamlivinglfs #lifraumenisyndromeawareness #p53 #tp53 #tp53gene #cancergenetics #geneticmutation #rarediseases #cancerfighter #genetictesting #childhoodcancerawareness #childhoodcancerawarenessmonth #pediatriccancer #childhoodcancer #gogoldinseptember

#lifraumeni #lifraumenisyndrome #livinglfs #iamlivinglfs #p53 #tp53 #tp53gene #cancergenetics #geneticcancer #geneticmutation #rarediseases #cancerfighter #genetictesting #childhoodcancerawareness #childhoodcancerawarenessmonth #pediatriccancer #childhoodcancer #gogoldinseptember

#lifraumeni #lifraumenisyndrome #livinglfs #iamlivinglfs #lifraumenisyndromeawareness #tp53gene #cancergenetics #geneticcancer #geneticmutation #rarediseases #cancerfighter #genetictesting #childhoodcancerawareness #childhoodcancerawarenessmonth #pediatriccancer #childhoodcancer #gogoldinseptember

Synapse: Your Connection to our MSK Authors
Meet: Omar Ibrahim Abdel-Wahab
Research Focus: Molecular Pharmacology Program; Member

Induction of a mismatch repair deficient genotype by tailored chemical mutagenesis in experimental models of cancer

synapse.mskcc.org/synapse/work...
#CancerGenetics

Fighting genetic cancer with genetic precision! 🎯 Scientists identify natural compounds that counteract breast cancer mutations using molecular genetics. Ancient plant medicine validated through cutting-edge analysis.

dl.begellhouse.com/journals/439...

#GeneticMedicine #CancerGenetics

Synapse: Your Connection to our MSK Authors
Meet: Kelli O'Connell
Research Focus: Biostat/Epidemiology; Research Biostatistician II
synapse.mskcc.org/synapse/work...

#GWAS #Genomics #CancerGenetics #EndometrialCancer #GeneticRisk #GeneticEpidemiology #CancerPrevention #PrecisionOncology

Synapse: Your Connection to our MSK Authors
Meet: Jamie Tisnado
Research Focus: Radiology; Assistant Attending

synapse.mskcc.org/synapse/work...

#PituitaryTumors #NeuroendocrineTumors #CancerResearch #Genomics #TumorBiology #OncologyResearch #CancerGenetics #CancerScience #MedicalResearch

#lifraumeni #lifraumenisyndrome #livinglfs #iamlivinglfs #lifraumenisyndromeawareness #p53 #tp53 #tp53gene #cancergenetics #geneticcancer #geneticmutation #rarediseases #cancerfighter #genetictesting #saturdayquote

#lifraumeni #lifraumenisyndrome #livinglfs #iamlivinglfs #lifraumenisyndromeawareness #p53 #tp53 #tp53gene #cancergenetics #geneticcancer #geneticmutation #rarediseases #cancerfighter #genetictesting #saturdayquote

#lifraumeni #lifraumenisyndrome #livinglfs #iamlivinglfs #lifraumenisyndromeawareness #p53 #tp53 #tp53gene #cancergenetics #geneticcancer #geneticmutation #rarediseases #cancerfighter #genetictesting #saturdayquote

An optimised computational approach for the identification of somatic structural variants in cancer. #SomaticStructuralVariants #CancerGenetics #Genomics #Bioinformatics #ToolsBenchmarking @biorxiv-bioinfo.bsky.social 🧬 🖥️
www.biorxiv.org/content/10.1...

#lifraumeni #lifraumenisyndrome #livinglfs #iamlivinglfs #lifraumenisyndromeawareness #p53 #tp53 #tp53gene #cancergenetics #geneticcancer #geneticmutation #rarediseases #cancerfighter #genetictesting #saturdayquote

#lifraumeni #lifraumenisyndrome #livinglfs #iamlivinglfs #p53 #tp53
#tp53gene #cancergenetics #geneticcancer #geneticmutation
#cancerawareness #cancer #rarediseases #survivor #lifraumenisyndromeawareness #sarcomaawarenessmonth #sarcomaawareness #sarcoma #oncology #clinicaltrials