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2023 1
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Targeted protein relocalization via protein transport coupling.
Ng CSC, Liu A, Cui B, Banik SM. Ng CSC, et al. Nature. 2024 Sep;633(8031):941-951. doi: 10.1038/s41586-024-07950-8. Epub 2024 Sep 18. Nature. 2024. PMID: 39294374 Free PMC article.
We analyse the TRAM-induced relocalization of different proteins and then use nuclear hormone receptors as shuttles to redistribute disease-driving mutant proteins such as SMARCB1(Q318X), TDP43(deltaNLS) and FUS(R495X). TRAM-mediated relocalization of FUS(R495X) to the nuc …
We analyse the TRAM-induced relocalization of different proteins and then use nuclear hormone receptors as shuttles to redistribute disease- …
SWI/SNF Complex-Deficient Undifferentiated Carcinoma of the Pancreas: Clinicopathologic and Genomic Analysis.
Yavas A, Ozcan K, Adsay NV, Balci S, Tarcan ZC, Hechtman JF, Luchini C, Scarpa A, Lawlor RT, Mafficini A, Reid MD, Xue Y, Yang Z, Haye K, Bellizzi AM, Vanoli A, Benhamida J, Balachandran V, Jarnagin W, Park W, O'Reilly EM, Klimstra DS, Basturk O. Yavas A, et al. Mod Pathol. 2024 Nov;37(11):100585. doi: 10.1016/j.modpat.2024.100585. Epub 2024 Jul 31. Mod Pathol. 2024. PMID: 39094734 Free PMC article. Clinical Trial.

Twenty-seven of 30 (90%) SWI-/SNF-deficient undifferentiated carcinomas had rhabdoid morphology (vs 9/29 [31%] SWI-/SNF-retained undifferentiated carcinomas; P < .001) and all expressed cytokeratin, at least focally. Immunohistochemically, SMARCB1 protein expression was

…
Twenty-seven of 30 (90%) SWI-/SNF-deficient undifferentiated carcinomas had rhabdoid morphology (vs 9/29 [31%] SWI-/SNF-retained undifferent …
Epidemiology of Renal Cancer: Incidence, Mortality, Survival, Genetic Predisposition, and Risk Factors.
Larcher A, Campi R, Bex A, Bray F, Bukavina L, Jonasch E, Jemal A, Marston Linehan W, Marandino L, Mir MC, Mollica V, Shuch B, Stewart GD, Sung H, Tran M, Kutikov A. Larcher A, et al. Eur Urol. 2025 Oct;88(4):341-358. doi: 10.1016/j.eururo.2025.06.005. Epub 2025 Jul 31. Eur Urol. 2025. PMID: 40750496 Review.
Pathogenic variants in the alleles, VHL, ELOC, TSC1/2, MET, FLCN, PRDM10, SDHA/B/C/D, MiTF, CDC73, FH, PTEN, BAP1, SMARCB1, CHEK2, MUTYH, BRCA2, ATM, and APC, predispose to RC. Nonmodifiable risk factors include sex, geography, ethnicity/ancestry, and family history. ...
Pathogenic variants in the alleles, VHL, ELOC, TSC1/2, MET, FLCN, PRDM10, SDHA/B/C/D, MiTF, CDC73, FH, PTEN, BAP1, SMARCB1, CHEK2, MU …
High-throughput screening of human genetic variants by pooled prime editing.
Herger M, Kajba CM, Buckley M, Cunha A, Strom M, Findlay GM. Herger M, et al. Cell Genom. 2025 Apr 9;5(4):100814. doi: 10.1016/j.xgen.2025.100814. Epub 2025 Mar 21. Cell Genom. 2025. PMID: 40120586 Free PMC article.
We next demonstrate negative selection screening by testing over 7,500 pegRNAs targeting SMARCB1 and observing depletion of efficiently installed loss-of-function (LoF) variants. ...
We next demonstrate negative selection screening by testing over 7,500 pegRNAs targeting SMARCB1 and observing depletion of efficient …
Update on Cancer and Central Nervous System Tumor Surveillance in Pediatric NF2-, SMARCB1-, and LZTR1-Related Schwannomatosis.
Perrino MR, Jongmans MCJ, Tomlinson GE, Greer MC, Scollon SR, Mitchell SG, Hansford JR, Schultz KAP, Kohlmann WK, Kalish JM, MacFarland SP, Das A, Maxwell KN, Pfister SM, Weksberg R, Michaeli O, Tabori U, Ney GM, Lupo PJ, Brzezinski JJ, Stewart DR, Woodward ER, Kratz CP. Perrino MR, et al. Clin Cancer Res. 2025 Apr 14;31(8):1400-1406. doi: 10.1158/1078-0432.CCR-24-3278. Clin Cancer Res. 2025. PMID: 39937237 Free PMC article.
Schwannomatosis (SWN) is a distinct cancer predisposition syndrome caused by germline pathogenic variants in the genes NF2, SMARCB1, or LZTR1. There is a significant clinical overlap between these syndromes with the hallmark of increased risk for cranial, spinal, and perip …
Schwannomatosis (SWN) is a distinct cancer predisposition syndrome caused by germline pathogenic variants in the genes NF2, SMARCB1, …
PHF6 cooperates with SWI/SNF complexes to facilitate transcriptional progression.
Mittal P, Myers JA, Carter RD, Radko-Juettner S, Malone HA, Rosikiewicz W, Robertson AN, Zhu Z, Narayanan IV, Hansen BS, Parrish M, Bhanu NV, Mobley RJ, Rehg JE, Xu B, Drosos Y, Pruett-Miller SM, Ljungman M, Garcia BA, Wu G, Partridge JF, Roberts CWM. Mittal P, et al. Nat Commun. 2024 Aug 24;15(1):7303. doi: 10.1038/s41467-024-51566-5. Nat Commun. 2024. PMID: 39181868 Free PMC article.
To gain insight into the mechanisms by which SWI/SNF mutations drive cancer, we contributed ten rhabdoid tumor (RT) cell lines mutant for SWI/SNF subunit SMARCB1 to a genome-scale CRISPR-Cas9 depletion screen performed across 896 cell lines. ...Our work establishes a mecha …
To gain insight into the mechanisms by which SWI/SNF mutations drive cancer, we contributed ten rhabdoid tumor (RT) cell lines mutant for SW …
Sickle cell disease induces chromatin introversion and ferroptosis in CD8+ T cells to suppress anti-tumor immunity.
Zhao Z, Hu B, Deng Y, Soeung M, Yao J, Bei L, Zhang Y, Gong P, Huang LA, Jiang Z, Gao J, Peng S, Nguyen TK, Karki M, Lim B, Yee C, Burks JK, Zhang Q, Ma L, Gao J, Tannir NM, Han L, Yu D, Wang L, Curran MA, Gubbiotti MA, Genovese G, Gan B, Li W, Msaouel P, Yang L, Lin C. Zhao Z, et al. Immunity. 2025 Jun 10;58(6):1484-1501.e11. doi: 10.1016/j.immuni.2025.04.020. Epub 2025 May 12. Immunity. 2025. PMID: 40359940 Free PMC article.
Lack of SMARCB1 expression characterizes a subset of human and murine peripheral T-cell lymphomas.
Fischer A, Albert TK, Moreno N, Interlandi M, Mormann J, Glaser S, Patil P, de Faria FW, Richter M, Verma A, Balbach ST, Wagener R, Bens S, Dahlum S, Göbel C, Münter D, Inserte C, Graf M, Kremer E, Melcher V, Di Stefano G, Santi R, Chan A, Dogan A, Bush J, Hasselblatt M, Cheng S, Spetalen S, Fosså A, Hartmann W, Herbrüggen H, Robert S, Oyen F, Dugas M, Walter C, Sandmann S, Varghese J, Rossig C, Schüller U, Tzankov A, Pedersen MB, d'Amore FA, Mellgren K, Kontny U, Kancherla V, Veloza L, Missiaglia E, Fataccioli V, Gaulard P, Burkhardt B, Soehnlein O, Klapper W, de Leval L, Siebert R, Kerl K. Fischer A, et al. Nat Commun. 2024 Oct 3;15(1):8571. doi: 10.1038/s41467-024-52826-0. Nat Commun. 2024. PMID: 39362842 Free PMC article.
Here, we identify a subgroup, PTCL-NOS(SMARCB1-), which is characterized by the lack of the SMARCB1 protein and occurs more frequently in young patients. ...These results provide a rationale for further exploration of HDACi combination therapies targeting PTCL-NOS( …
Here, we identify a subgroup, PTCL-NOS(SMARCB1-), which is characterized by the lack of the SMARCB1 protein and occurs more fr …
SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.
Kehrer-Sawatzki H, Cooper DN. Kehrer-Sawatzki H, et al. Fam Cancer. 2025 Aug 12;24(3):64. doi: 10.1007/s10689-025-00486-4. Fam Cancer. 2025. PMID: 40794298 Free PMC article. Review.
SMARCB1 is also an important tumour suppressor gene and somatic SMARCB1 pathogenic variants (PVs) have been detected in ~ 5% of all human cancers. ...Thus, the tumour phenotype associated with germline SMARCB1 PVs is determined by the nature and location of t …
SMARCB1 is also an important tumour suppressor gene and somatic SMARCB1 pathogenic variants (PVs) have been detected in ~ 5% o …
Epigenetic targeting of PGBD5-dependent DNA damage in SMARCB1-deficient sarcomas.
Kazansky Y, Mueller HS, Cameron D, Demarest P, Zaffaroni N, Arrighetti N, Zuco V, Mundi PS, Kuwahara Y, Somwar R, Qu R, Califano A, de Stanchina E, Dela Cruz FS, Kung AL, Gounder MM, Kentsis A. Kazansky Y, et al. J Clin Invest. 2025 Aug 12;135(20):e179282. doi: 10.1172/JCI179282. eCollection 2025 Oct 15. J Clin Invest. 2025. PMID: 40794452 Free PMC article.
The polycomb repressive complex EZH2 inhibitor tazemetostat was recently approved for the treatment of SMARCB1-deficient epithelioid sarcomas, based on the functional antagonism between PRC2 and SMARCB1. ...Here, using transcriptomic inference from SMARCB1-de …
The polycomb repressive complex EZH2 inhibitor tazemetostat was recently approved for the treatment of SMARCB1-deficient epithelioid …
100 results