Overview

Location [1]
15q14
Protein [2]
Thrombospondin-1
Synonyms [1]
TSP, TSP1, TSP-1, THBS-1, THBS

Thrombospondin 1 (THBS1) is a gene that encodes a protein that mediates cell-to-cell and cell-to-matrix interactions. Missense mutations, silent mutations, nonsense mutations, frameshift insertions, and frameshift deletions are observed in cancers such as skin cancer, stomach cancer, and endometrial cancer.

THBS1 is altered in 2.03% of all cancers with high grade ovarian serous adenocarcinoma, bladder urothelial carcinoma, breast invasive ductal carcinoma, endometrial endometrioid adenocarcinoma, and low grade ovarian serous adenocarcinoma having the greatest prevalence of alterations [3].

THBS1 GENIE Cases - Top Diseases

The most common alterations in THBS1 are THBS1 A488T (0.22%), THBS1 C562Y (0.39%), THBS1 D1049N (0.39%), THBS1 D225G (0.39%), and THBS1 D380N (0.22%) [3].

THBS1 GENIE Cases - Top Alterations

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.