Overview

Location [1]
1q43
Pathway
Metabolic signaling
Protein [2]
Fumarate hydratase, mitochondrial
Synonyms [1]
MCUL1, FMRD, LRCC, MCL, HLRCC

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 1.05% 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].

FH GENIE Cases - Top Diseases

The most common alterations in FH are FH Mutation (0.90%), FH Amplification (0.24%), FH Loss (0.07%), FH H476delinsQN (0.02%), and FH E488K (0.02%) [3].

FH GENIE Cases - Top Alterations

Clinical Trials

Significance of FH in Diseases

Renal Cell Carcinoma +

Gastrointestinal Stromal Tumor +

Non-Small Cell Lung Carcinoma +

Breast Carcinoma +

Clear Cell Renal Cell Carcinoma +

Malignant Solid Tumor +

Hereditary Leiomyomatosis And Renal Cell Cancer +

Papillary Renal Cell Carcinoma +

Paraganglioma +

Peritoneal Mesothelioma +

Pleural Mesothelioma +

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 6. 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.