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Mònica Sánchez-Guixé

@guixe-m.bsky.social
518 followers 739 following 30 posts

Principal Investigator of the Pediatric Cancer Genomics Laboratory at the Institut de Recerca Sant Joan de Déu (IRSJD) in Barcelona 🧬👩‍💻

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Mònica Sánchez-Guixé @guixe-m.bsky.social · 06/07/2026
Lastly, to say that I am extremely proud of this story, which is my first co-corresponding work: bsky.app/profile/guix...
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 06/07/2026
17/17 Last and most important, a huge thanks to the affected children and their families for their kind support of research at such a difficult time. Thanks to their generosity, we can build stories like this, bringing us closer to decipher why children develop cancer.
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 06/07/2026
16/17 Special thanks to @nlbigas.bsky.social and the rest of the @bbglab.bsky.social, for their input and advice along the course of this project.
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 06/07/2026
15/17 Also, to our collaborator Alexandra Avgustinova, for her valuable feedback and who kindly gave us access to all the material and clinical information of the SJD cohort.
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 06/07/2026
14/17 I would like to thank all the team involved in this story, especially @abeldavidgp.bsky.social, with whom I have worked side by side to build up the story.
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 06/07/2026
13/17 These results indicate that, besides the genetic driver event, another (non-genetic) event or process during the life of the child is likely required for the emergence of a rhabdoid tumor.
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 06/07/2026
12/17 In conclusion, the bi-allelic loss of SMARCB1 across all rhabdoid tumors is a very early event that likely occurs during prenatal development, while the clonal expansion of the cell harboring the driver event happens at different ages
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 06/07/2026
11/17 Interpolating the number of mutations accumulated in each tumor before the CN-LOH (orange) into the yearly rate of acquisition of clock-like mutations, revealed that in all cases the founder genetic event likely occurred during prenatal time.
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 06/07/2026
10/17 We then estimated the chronological time of occurrence of the driver event (CN-LOH) by using a mutation rate calculated with the clonal mutations of the untreated samples.
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 06/07/2026
9/17 Interestingly, the number of mutations accumulated before the CNLOH does not correlate with age, unlike those accumulated after the event. This indicates that the age of occurrence of the most recent clonal expansion is not influenced by the age of occurrence of the driver event.
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 06/07/2026
8/17 The analysis of the 34 tumors with CN-LOH revealed that this event always occurred very early (zygote-to-event time, orange bar), in comparison with the most recent clonal expansion (event-to-expansion, blue bar)
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 06/07/2026
7/17 This indicates that, in this case, the time elapsed between the first division of the zygote and the occurrence of the bi-allelic loss of SMARCB1 is much less than the time following it and preceding to the most recent tumoral expansion
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 06/07/2026
6/17 For instance, in the PT44 case, there is one mutation in 2 copies (homozygous, yellow area) of the CNLOH region (grey area), and 8 mutations in each copy (heterozygous, blue area) of the CNLOH area.
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 06/07/2026
5/17 Exploiting these CN-LOH events, we have estimated the age of occurrence of the SMARCB1 bi-allelic loss: mutations in two copies (homozygous), occurred before the CN-LOH, while mutations in only one copy, have occurred after CN-LOH
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 06/07/2026
4/17 We have discovered that, in 42% of the cases, the bi-allelic inactivation of the driver gene occurred via a Copy Number Neutral-Loss of Heterozygosity (CN-LOH). This event consists of the duplication of a mutant chromosome (or a big part of it) and the deletion of the wildtype copy.
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 06/07/2026
3/17 SMARCB1 (or SMARCA4) bi-alleic loss is suspected to occur prenatally, but little is known about the genomic evolution of these tumors. Here, we have assembled the largest (88) WGS rhabdoid tumors cohort collected to date, to study the sequence of genomic events leading to their emergence.
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 06/07/2026
2/17 Rhabdoid tumors are very aggressive deadly soft-tissue tumors affecting very young children, although some cases may appear in adolescence. They are mainly characterised by a single genetic driver event: the bi-allelic loss of SMARCB1 (or less frequently SMARCA4).
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 06/07/2026
1/17 We are very happy to announce our latest work about the genetic origin and evolution of one of the most aggressive pediatric tumors: “Variable latency between the founder genetic event and rhabdoid tumor expansion” www.biorxiv.org/content/10.6.... Follow the thread to know more 👇
biorxiv.org
Variable latency between the founder genetic event and rhabdoid tumor expansion
Rhabdoid tumors are very aggressive rare pediatric cancers with poor survival affecting very young children. They are characterized by the bi-allelic loss of SMARCB1 or SMARCA4, which is suspected to ...
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bioRxiv Genomics @biorxiv-genomic.bsky.social · 04/07/2026
Variable latency between the founder genetic event and rhabdoid tumor expansion www.biorxiv.org/content/10.64898/20…
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 06/07/2026
Special thanks to the rest of the @bbglab.bsky.social members, you are such a great family!
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 06/07/2026
All these successes are also a merit of the people that supported me during all these years, most importantly @nlbigas.bsky.social, my postdoc supervisor; and Jaume Mora, my longstanding collaborator and my current mentor.
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 06/07/2026
Also, I am also very happy to have been recently awarded with a Ramon y Cajal grant from the @ageinves.bsky.social.
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 06/07/2026
I would like to thank CRIS Contra el Cáncer who funded me this year with an Emerging Leader grant, allowing me to take this important big step in my career, and be able to continue the study on the origins of pediatric cancer.
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 06/07/2026
I would like to announce that I have recently started my own research group, the Pediatric Cancer Genomics Laboratory, at Institut de Recerca Sant Joan de Déu (IRSJD) - Fundació de Recerca Sant Joan de Déu.
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Barcelona Biomedical Genomics Lab @bbglab.bsky.social · 11/11/2025
Today, Nuria López-Bigas @nlbigas.bsky.social and Mònica Sánchez-Guixé @guixe-m.bsky.social are at the #BarcelonaBiomed Conference, organised by #IRBBarcelona. A great occasion to share our projects related to childhood cancers.
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The Batlle Lab @batllelab.bsky.social · 27/10/2025
Our recent Cancer Discovery study (Centonze et al.) shows that within hours, metastatic CRC cells switch from an EMP1⁺ invasive state to an LGR5⁺ stem-like program, highlighting that Plasticity is a dynamic, regulated cell-state decision #Bluetorial below👇🏼 #KRAS #Plasticity #ColorectalCancer
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The Batlle Lab @batllelab.bsky.social · 23/10/2025
🧵1/17 📣Thrilled to share our latest study just out in Cancer Discovery! ➡️ aacrjournals.org/cancerdiscov...
aacrjournals.org
A plastic EMP1⁺ to LGR5⁺ cell state conversion as a bypass to KRAS-G12D pharmacological inhibition in metastatic colorectal cancer
Abstract. Inhibitors of the oncogene KRAS hold promise for treating metastatic CRC (mCRC). Here we show that a selective, covalent small molecule inhibitor of the active (ON) conformation of RAS-G12D,...
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Joram Mooiweer @jorammooiweer.bsky.social · 20/10/2025
As a researcher at the start of its career, I find this very frightening… www.nature.com/articles/d41...
nature.com
Is academic research becoming too competitive? Nature examines the data
Applications for European research grants increased in 2025. Scientists say they’re feeling the competition.
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 15/10/2025
Congratulations Bet!! 🎉
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Bet Figuerola @efigbo.bsky.social · 14/10/2025
📢 Thrilled to share our latest paper, KDM6 Demethylases Contribute to EWSR1::FLI1-Driven Oncogenic Reprogramming in Ewing Sarcoma, from my PhD, is now published in Cancer Research! Explore our findings🔬🧬: aacrjournals.org/cancerres/ar... #Epigenetics #Cancer #EwingSarcoma Huge thanks to the team!
aacrjournals.org
KDM6 Demethylases Contribute to EWSR1::FLI1-Driven Oncogenic Reprogramming in Ewing Sarcoma
Abstract. Ewing Sarcoma (EwS) is a highly aggressive tumor arising in bones and soft tissues driven by the fusion oncoprotein EWSR1::FLI1. This aberrant transcription factor binds to GGAA microsatelli...
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Nuria Lopez-Bigas @nlbigas.bsky.social · 08/10/2025
🚨 New paper alert! Sex and smoking bias in the selection of somatic mutations in human bladder www.nature.com/articles/s41... by @raquelbmi.bsky.social, @ferriol.bsky.social et al (in collaboration with Rosana Risques lab in @uwmedicine.bsky.social)
nature.com
Sex and smoking bias in the selection of somatic mutations in human bladder - Nature
Sex bias and association with smoking history identified in the landscape of driver mutations and clonal expansions in normal human bladder tissue may explain the higher bladder cancer risk in men and smokers.
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IRB Barcelona @irbbarcelona.org · 08/10/2025
🧪 Out in @nature.com: Smoking and biological sex shape healthy bladder tissue evolution, offering clues to #cancer risk. ✍️ #IRBBarcelona & University of Washington ➡️ bit.ly/42wcIN5 📌 DOI: 10.1038/s41586-025-09521-x #IRBScience #CancerResearch #BladderCancer @bbglab.bsky.social 🧵👇
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Marion @marionlegrand.bsky.social · 02/06/2025
📣 Youth4Kids 2025 🎗️ Let's start with @guixe-m.bsky.social from @irbbarcelona.org. Her work focuses on the origin of second malignancies in children or the factors underlying the response to immunotherapies. Looking forward to listening to her talk! @r4knetwork.bsky.social
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 21/03/2025
Last day in the Clinical Cancer Genomics here in Amsterdam! Very nice talks and insightful views of the overall uses of genomic data in Europe. And very useful feedback in my poster on the origins of pediatric rhabodid tumors @bbglab.bsky.social #CCG2025 #CCG25
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Barcelona Biomedical Genomics Lab @bbglab.bsky.social · 19/02/2025
Today Mònica Sánchez-Guixé presented her talk entitled "Timing the origins of pediatric rhabdoid tumors" at the Node Seminar Series of @irbbarcelona.org Interesting talk and interesting discussion after. It's always a pleasure to share our work. Well done @guixe-m.bsky.social 👏👏
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CGI-Clinics @cgiclinics.bsky.social · 23/01/2025
We’re enjoying a fantastic first day of our second Annual Meeting for the CGI-Clinics project, thanks to the organisation of @irbbarcelona.org 👏 so far we’ve heard updates on communication, tumour boards, patient empowerment and data harnessing here in beautiful Barcelona ☀️
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Barcelona Biomedical Genomics Lab @bbglab.bsky.social · 21/01/2025
As we are quite new in that network, we take the chance to share our research achievements of the last year. Here you can follow a short 🧵of our latest publications: 1️⃣ www.nature.com/articles/s41...
nature.com
Five latent factors underlie response to immunotherapy - Nature Genetics
Analysis of human tumor datasets shows that all features that appear significantly associated with immunotherapy response and survival may be collapsed into five latent factors: tumor mutation burden, T cell effective infiltration, TGF-β activity in the microenvironment, prior treatment and tumor proliferative potential.
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Edwin Cuppen @ecuppen.bsky.social · 10/01/2025
Less than a week for registration. Check out the program: www.ccg2025.eu. With keynotes by @nlbigas.bsky.social and @charlesswanton.bsky.social and exciting sessions on clinical implementation and impact, research insights and future developments around cancer whole genome sequencing #ccg2025
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IRB Barcelona @irbbarcelona.org · 23/12/2024
📢 We're hiring! 🟠Postdoc Fellows Stefanie Wculek, Patrick Aloy, @batllelab.bsky.social 🟠Research Assistant/Bioinformatician @bbglab.bsky.social  🟠Public Procurement Officer 🟠Academic Officer 🟠Program Secretary ➡️ bit.ly/3MR4wO8 🧪
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 12/12/2024
Congratulations David!! 🤗🤗
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David Martínez Millán @dmartmillan.bsky.social · 12/12/2024
🎉 I'm thrilled to announce that OpenVariant is finally published! A comprehensive toolkit to facilitate reading, parsing and refinement of diverse input file formats in a customizable structure, all within a single process. @bbglab.bsky.social at @irbbarcelona.bsky.social doi.org/10.1093/bioi...
academic.oup.com
OpenVariant: a toolkit to parse and operate multiple input file formats
AbstractSummary. Advances in high-throughput DNA sequencing technologies and decreasing costs have fueled the identification of small genetic variants (suc
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 25/11/2024
🧪🧬Interested in pediatric cancer genomics? Check out my last work on the origins of second malignancies in children 👇
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Johanna Joyce @johannajoyce.bsky.social · 25/11/2024
Women are under-represented at senior levels in #academia globally, & across all #science 🧪 disciplines, as shown by these "scissor-shaped curves" ✂️ So how can we ever achieve #gender #equality? We discuss various strategies in this #Cell Commentary #WomeninSTEM www.cell.com/cell/fulltex... 🧵 1/
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Nuria Lopez-Bigas @nlbigas.bsky.social · 19/11/2024
CGI-Clinics project just joined Bluesky. Follow it to stay tuned on exciting updates coming soon about the project 👉 @cgiclinics.bsky.social cgiclinics.eu
Improving cancer genome interpretation for precision medicine in oncology - CGI-Clinics
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Nuria Lopez-Bigas @nlbigas.bsky.social · 25/11/2024
We recently announced a dual new release of intOGen and boostDM Computational analysis of 33,218 tumor genomes to identify cancer genes and driver mutations ➡️ Compendium of Cancer Driver Genes - www.intogen.org ➡️ In Silico Saturation Mutagenesis of Cancer Genes - www.intogen.org/boostdm
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Nuria Lopez-Bigas @nlbigas.bsky.social · 25/11/2024
Children who develop two independent tumors during childhood are extremely rare We wanted to see if our genomic technologies could shed light into those exceptional cases. Read about it in this recent paper: tinyurl.com/yt9m584d
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Trevor Graham @trevorgraham.bsky.social · 12/11/2024
I've started a list of people working on #cancer #evolution. Many more to be added, so do let me know if that is you. Also if you would like to be removed. go.bsky.app/QuAF4Mo
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 20/11/2024
Hi everyone! Glad to see that science bluesky is growing so rapidly :) My research focuses on pediatric cancer, genomics, and tumor evolution. Follow me if interested! 🧪🧬
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Mònica Sánchez-Guixé @guixe-m.bsky.social · 20/11/2024
Hi Trevor! Could you add me as well? Thanks a lot!
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Anna Obenauf @obenaufa.bsky.social · 20/11/2024
Pls share 🌟Join the IMP as a Group Leader We are 👀 for a colleague, ready to lead a groundbreaking research program. Enjoy generous funding, outstanding facilities & a vibrant scientific community in one of the world's most livable cities @impvienna.bsky.social 👉https://tinyurl.com/impgl2025
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