Associated Genetic Biomarkers
Nuclear mitotic apparatus protein 1 (NUMA1) is a gene that encodes a protein that functions as a structural component of the nuclear matrix. The protein also interacts with microtubules and helps form and organize the mitotic spindle during cell division. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.
NUMA1 is altered in 1.90% of all cancers with non-small cell lung carcinoma, bladder carcinoma, breast carcinoma, esophageal cancer, and malignant glioma having the greatest prevalence of alterations .
The most common alterations in NUMA1 are NUMA1 A1075S (0.00%), NUMA1 A1194T (0.00%), NUMA1 A2097T (0.00%), NUMA1 E2002K (0.00%), and NUMA1 E719* (0.00%) .
NUMA1 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 NUMA1 status as an inclusion criterion, 1 is phase 3 (1 open).
Trials with NUMA1 status in the inclusion eligibility criteria most commonly target acute myeloid leukemia .
The most frequent alteration to serve as an inclusion eligibility criterion is NUMA1-RARA Fusion .
Beta all trans retinoic acid and idarubicin are the most frequent therapies in trials with NUMA1 as an inclusion criteria .
Significance of NUMA1 in Diseases
Acute Myeloid Leukemia +
NUMA1 is an inclusion criterion in 1 clinical trial for acute myeloid leukemia, of which 1 is open and 0 are closed. Of the trial that contains NUMA1 status and acute myeloid leukemia as inclusion criteria, 1 is phase 3 (1 open) .
Beta all trans retinoic acid and idarubicin are the most frequent therapies in acute myeloid leukemia trials with NUMA1 alterations as inclusion criteria .
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 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.