Overview

Location [1]
19q13.2
Pathway
TGF-Beta signaling
Protein [2]
Latency-associated peptide
Synonyms [1]
TGF-beta1, DPD1, IBDIMDE, TGFbeta, TGFB, CED, LAP

Transforming growth factor, beta 1 (TGFB1) is a gene that encodes a protein that is a member fo the transforming growth factor beta family of cytokines. The protein functions in the regulation of cell proliferation, differentiation, adhesion, and migration. Missense mutations, nonsense mutations, silent mutations, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

TGFB1 is altered in 1.26% of all cancers with colon adenocarcinoma, high grade ovarian serous adenocarcinoma, bladder adenocarcinoma, oropharyngeal squamous cell carcinoma, and ovarian endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

TGFB1 GENIE Cases - Top Diseases

The most common alterations in TGFB1 are TGFB1 A262D (0.39%), TGFB1 G29A (0.85%), TGFB1 M133V (0.85%), TGFB1 R152W (0.39%), and TGFB1 R210H (2.94%) [3].

TGFB1 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.