Chromothripsis and ecDNA initiated by N4BP2 nuclease fragmentation of cytoplasm-exposed chromosomes Genome instability, including chromothripsis, is a hallmark of cancer. Cancer cells frequently contain micronuclei—small, nucleus-like structures formed by chromosome missegregation—that are susceptib...

🧬🔬@science.org #Chromothripsis and ecDNA initiated by N4BP2 nuclease fragmentation of cytoplasm-exposed chromosomes | Science www.science.org/doi/10.1126/...

Researchers at @ludwigcancer.bsky.social and @imm.ox.ac.uk have found a possible new drug target for a treatment-resistant type of #leukaemia. By investigating #chromothripsis, they identified a gene which could unlock new treatment in the future 🔬

Find out more 👉 www.ndm.ox.ac.uk/news/researc...

In practice, this means that we can now study, reliably, complex genomic rearrangements (e.g. #chromothripsis) and clinically relevant events causing tumour suppressor gene loss using long reads (left) with comparable accuracy to Illumina (right):

Congrats to BCM medical students Melina Corriveau & Joshua Korb for leading a great team of collaborators in identifying MEF2C-AS1 and #chromothripsis in 5q14.3 microdeletion syndrome. Providing key answers for #rarediseases #epilepsy 👏👏@bcmgenetics.bsky.social @bcmhouston.bsky.social

Rare chromosome reshuffling leads to severe complex form of epilepsy Although it's more commonly found in cancer, chromosome reshuffling is increasingly identified in neurodevelopmental disorders.

Rare #chromosome reshuffling leads to severe complex form of #epilepsy. Dr. HT Chao @htchaolab.bsky.social explains the findings. @bcmhouston.bsky.social @bcmgenetics.bsky.social #chromothripsis blogs.bcm.edu/2025/02/18/f...

Chromothripsis in cancer - Nature Reviews Cancer

# REVIEW 🚨
Simovic-Lorenz & Ernst from @dkfz.bsky.social discuss mechanisms of #chromothripsis, its impact on cancer and vulnerabilities of chromothriptic tumours.
📖 ⬇️

Child with rare epileptic disorder receives long-awaited diagnosis Researchers at Baylor College of Medicine, the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital, Baylor Genetics...

Child with rare #epilepticDisorder receives long-awaited #diagnosis. Dr. HT Chao explains. #TCHResearchNews @baylorgenetics #AJMGEditors @bcmneurology @bcmneurosci @texaschildrens #chromothripsis. tinyurl.com/564byw2z

Loss–Translocation–Amplification Chromothripsis Drives Osteosarcoma Evolution Main Finding: High-grade osteosarcomas frequently exhibit a loss–translocation–amplification (LTA) pattern of chromothripsis that inactivates TP53 and amplifies oncogenes.Concept: Ongoing chromothrips...

🧬 #ResearchWatch: Loss–Translocation–Amplification #Chromothripsis Drives #Osteosarcoma Evolution, a summary of the study by @jevalleinclan.bsky.social, Solange De Noon, Adrienne Flanagan, Isidro Cortes-Ciriano, and colleagues @ucl.ac.uk @ebi.embl.org @uclnews.bsky.social

doi.org/10.1158/2159...

#Chromothripsis leads to the acquisition of multiple genomic aberrations.

Now out in Nat Rev Cancer:

1) A #Review from Simovic-Lorenz & Aurelie Ernst, @dkfz.bsky.social, covering mechanistic models of chromothripsis & its role in cancer and progression.

👉 bit.ly/4fy8pFo

Chromothripsis in cancer - Nature Reviews Cancer Chromothripsis is an extreme form of chromosome instability that causes the acquisition of multiple genomic aberrations. Simovic-Lorenz and Ernst discuss mechanistic models of chromothripsis and outli...

Chromothripsis in cancer. #Chromothripsis #Cancer #GenomicRearrangements #ChromosomalShattering #Genomics #NatureReviewsCancer #BioSky #SciSky 🧪
www.nature.com/articles/s41...

Short intro to #chromothripsis
@CurrentBiology
http://goo.gl/wjAkvc http://t.co/H2bh3XtGkN