SMC3 (Structural Maintenance Of Chromosomes 3)

P1, N=13, Active, not recruiting, Dana-Farber Cancer Institute | Recruiting --> Active, not recruiting | Trial completion date: Dec 2025 --> Jan 2027 | Trial primary completion date: Dec 2025 --> Apr 2025

Furthermore, we observed differential effects of Rad21 and Smc3 deletion on leukemia development and secondary engraftment despite only minor differences in gene expression. These results demonstrate that cohesin mutations are not only tolerated in Cbfb::MYH11-expressing cells, they likely do not confer a strong selective advantage and are therefore not preferentially selected for during clonal evolution of this leukemia.

The current study provides insight into the prognostic impact of cohesin mutations and co-occurring mutations in patients with myeloid malignancies.

P1, N=12, Recruiting, Dana-Farber Cancer Institute | Trial completion date: Jun 2025 --> Dec 2025 | Trial primary completion date: Dec 2024 --> Dec 2025

Consequently, ZNF521 plays a critical role in acute myeloid leukemogenesis by reducing the expression and acetylation of SMC3. Overall, this study sheds light on the potential for targeted treatment in highly ZNF521 expressed acute myeloid leukemia, providing a valuable clue for precise and effective therapeutic approaches.

The NFAT5, ACVR1C and SMC3 gene expression signature is associated with colorectal BM. Future studies should further investigate the importance of this biomarker signature.

Analyses of tumor and model system transcriptomic data and epigenetic data in a subset of cases suggest that SMC3 pLoF variants reduce SMC3 expression but do not strongly support clustering with functional genomic signatures of typical CdLS. Our finding of substantial population-scale LoF intolerance in concert with variable growth and developmental features in subjects with SMC3 pLoF variants expands the scope of cohesinopathies, informs on their allelic architecture, and suggests the existence of additional clearly LoF-constrained genes whose disease links will be confirmed only by multi-layered genomic data paired with careful phenotyping.

Our findings underscore the crucial role of RIT1 in regulating mitosis in HCC and further demonstrate its potential as a promising therapeutic target for HCC treatment.

Overall, we dissected a mechanism that regulates Rab27a expression during PDAC progression and impacts disease prognosis.

P1, N=12, Recruiting, Dana-Farber Cancer Institute | Trial completion date: Jun 2024 --> Jun 2025 | Trial primary completion date: Jun 2023 --> Dec 2024

P1, N=12, Recruiting, Dana-Farber Cancer Institute | Trial completion date: Jun 2023 --> Jun 2024