Biomarkers /
TGFBR2
Overview
Transforming growth factor, beta receptor II (TGFBR2) is a gene that encodes a protein that functions as serine/threonine kinase and TGF-beta receptor. The protein receptor binds TGF-beta to ultimately regulate transcription and cell proliferation. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.
TGFBR2 is altered in 1.78% of all cancers with colon adenocarcinoma, pancreatic adenocarcinoma, lung adenocarcinoma, breast invasive ductal carcinoma, and cutaneous melanoma having the greatest prevalence of alterations [3].
The most common alterations in TGFBR2 are TGFBR2 Mutation (1.27%), TGFBR2 Loss (0.40%), TGFBR2 R528H (0.07%), TGFBR2 Amplification (0.05%), and TGFBR2 R528C (0.05%) [3].
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.