Biomarkers /
FH
Overview
Fumarate hydratase (FH) is a gene that encodes a protein that functions as an enzyme in the TCA cycle. The protein catalyzes the synthesis of L-malate from fumarate. Missense mutations, nonsense mutations, and silent mutations are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.
FH is altered in 1.25% of all cancers with lung adenocarcinoma, breast invasive ductal carcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].
The most common alterations in FH are FH Mutation (0.91%), FH Amplification (0.32%), FH Loss (0.07%), FH Frameshift (0.05%), and FH Nonsense (0.05%) [3].
Clinical Trials
Significance of FH in Diseases
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.