Associated Genetic Biomarkers
Structural maintenance of chromosomes 1A (SMC1A) is a gene that encodes a protein that functions as an integral component of functional kinetochores. The protein is also suspected to play a role in DNA repair. Missense mutations, nonsense mutations, silent mutations, frameshift deletions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.
SMC1A is altered in 1.34% of all cancers with lung adenocarcinoma, endometrial endometrioid adenocarcinoma, colon adenocarcinoma, conventional glioblastoma multiforme, and bladder urothelial carcinoma having the greatest prevalence of alterations .
The most common alterations in SMC1A are SMC1A Mutation (1.25%), SMC1A Amplification (0.10%), SMC1A R711Q (0.05%), SMC1A R711W (0.05%), and SMC1A R96H (0.11%) .
SMC1A 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 SMC1A status as an inclusion criterion, 1 is phase 1 (1 open).
Trials with SMC1A status in the inclusion eligibility criteria most commonly target acute myeloid leukemia and myelodysplastic syndromes .
The most frequent alterations to serve as inclusion eligibility criteria are SMC1A Loss and SMC1A Mutation .
Talazoparib is the most frequent therapy in trials with SMC1A as an inclusion criteria .
Significance of SMC1A in Diseases
Acute Myeloid Leukemia +
Myelodysplastic Syndromes +
SMC1A is altered in 0.35% of myelodysplastic syndromes patients .
SMC1A 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 SMC1A 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.