Associated Genetic Biomarkers
SUZ12 polycomb repressive complex 2 subunit (SUZ12) is a gene that encodes a protein that functions in the methylation of histone H3 and subsequent transcriptional repression of the target gene. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as breast cancer, endometrial cancer, and skin cancer.
SUZ12 is altered in 1.09% of all cancers with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations .
The most common alterations in SUZ12 are SUZ12 Amplification (0.12%), SUZ12 Loss (0.07%), SUZ12 G39S (0.13%), SUZ12 A66T (0.18%), and SUZ12 A33V (0.06%) .
SUZ12 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 SUZ12 status as an inclusion criterion, 1 is phase 2 (1 open).
Trials with SUZ12 status in the inclusion eligibility criteria most commonly target malignant peripheral nerve sheath tumor .
The most frequent alterations to serve as inclusion eligibility criteria are SUZ12 Loss and SUZ12 Mutation .
Decitabine and cedazuridine is the most frequent therapy in trials with SUZ12 as an inclusion criteria .
Significance of SUZ12 in Diseases
Malignant Peripheral Nerve Sheath Tumor +
SUZ12 is altered in 18.6% of malignant peripheral nerve sheath tumor patients .
SUZ12 is an inclusion criterion in 1 clinical trial for malignant peripheral nerve sheath tumor, of which 1 is open and 0 are closed. Of the trial that contains SUZ12 status and malignant peripheral nerve sheath tumor as inclusion criteria, 1 is phase 2 (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.