Overview

Location [1]
17q11.2
Protein [2]
Polycomb protein SUZ12
Synonyms [1]
JJAZ1, CHET9, IMMAS

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 [3].

SUZ12 GENIE Cases - Top Diseases

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%) [3].

SUZ12 GENIE Cases - Top Alterations

Significance of SUZ12 in Diseases

Malignant Peripheral Nerve Sheath Tumor +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

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.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.