Overview

Location [1]
Xp11.22
Synonyms [1]
HD21, SSX, CT5.2, CT5.2A, HOM-MEL-40

Synovial sarcoma, X breakpoint 2 (SSX2) 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, missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as hematopoietic and lymphoid cancers.

SSX2 is altered in 0.07% of all cancers with synovial sarcoma, pancreatic adenocarcinoma, breast invasive ductal carcinoma, cholangiocarcinoma, and duodenal adenocarcinoma having the greatest prevalence of alterations [3].

SSX2 GENIE Cases - Top Diseases

The most common alterations in SSX2 are SSX2-SS18 Fusion (0.03%), SSX2 K20N (0.61%), SSX2 L84F (0.61%), SSX2 A15T (0.30%), and SSX2 A6T (0.30%) [3].

SSX2 GENIE Cases - Top Alterations

Significance of SSX2 in Diseases

Malignant Solid Tumor +

Synovial Sarcoma +

Breast Carcinoma +

Bladder Carcinoma +

Endometrial Endometrioid Adenocarcinoma +

Epithelioid Sarcoma +

Malignant Ovarian Clear Cell Tumor +

Malignant Ovarian Endometrioid Tumor +

Rhabdoid Tumor +

Sarcomatoid Carcinoma +

Soft Tissue Sarcoma +

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.