Associated Genetic Biomarkers
Associated Diseases

Overview

Location [1]
Xp11.23
Synonyms [1]
CT5.4

Synovial sarcoma, X breakpoint 4 (SSX4) is a gene that encodes a protein that functions as a transcriptional repressor. The protein also elicits humoral and cellular immune responses in cancer patients. Fusions mutations are observed in this gene.

SSX4 is altered in 0.11% of all cancers with pancreatic adenocarcinoma, esophagogastric carcinoma, ampulla of vater carcinoma, breast angiosarcoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

SSX4 GENIE Cases - Top Diseases

The most common alterations in SSX4 are SSX4 A163D (0.91%), SSX4 G143E (0.61%), SSX4 G160R (0.61%), SSX4 E118D (0.30%), and SSX4 F25C (0.85%) [3].

SSX4 GENIE Cases - Top Alterations

Significance of SSX4 in Diseases

Synovial Sarcoma +

Malignant Solid Tumor +

Soft Tissue Sarcoma +

Bladder Carcinoma +

Breast Carcinoma +

Endometrial Endometrioid Adenocarcinoma +

Epithelioid Sarcoma +

Malignant Ovarian Clear Cell Tumor +

Malignant Ovarian Endometrioid Tumor +

Rhabdoid Tumor +

Sarcomatoid Carcinoma +

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.