Associated Genetic Biomarkers
Structural maintenance of chromosomes 3 (SMC3) is a gene that encodes a protein that has the ability to function as an intracellular, nuclear, or secreted protein. In its nuclear form, the protein functions in the adhesion of sister chromatids during mitosis. Missense mutations, nonsense mutations, silent mutations, frameshift deletions, and in-frame deletions are observed in cancers such as intestinal cancer, parathyroid cancer, and stomach cancer.
SMC3 is altered in 1.33% of all cancers with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, bladder urothelial carcinoma, and melanoma having the greatest prevalence of alterations .
The most common alterations in SMC3 are SMC3 Mutation (1.11%), SMC3 Loss (0.06%), SMC3 Fusion (0.05%), SMC3 N833S (0.04%), and SMC3 R805C (0.03%) .
SMC3 status serves as an inclusion eligibility criteria in 1 clinical trial, of which 1 is open and 0 are closed. Of the trial that contains SMC3 status as an inclusion criterion, 1 is phase 1 (1 open).
Trials with SMC3 status in the inclusion eligibility criteria most commonly target acute myeloid leukemia and myelodysplastic syndromes .
The most frequent alteration to serve as an inclusion eligibility criterion is SMC3 Mutation .
Talazoparib is the most frequent therapy in trials with SMC3 as an inclusion criteria .
Significance of SMC3 in Diseases
Acute Myeloid Leukemia +
Myelodysplastic Syndromes +
SMC3 is altered in 0.56% of myelodysplastic syndromes patients .
SMC3 is an inclusion criterion in 1 clinical trial for myelodysplastic syndromes, of which 1 is open and 0 are closed. Of the trial that contains SMC3 status and myelodysplastic syndromes as inclusion criteria, 1 is phase 1 (1 open) .
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.