Overview

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

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 1.24% of all cancers with non-small cell lung carcinoma, breast carcinoma, colorectal adenocarcinoma, uterine corpus neoplasm, and melanoma having the greatest prevalence of alterations [3].

FH GENIE Cases - Top Diseases

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

FH GENIE Cases - Top Alterations

Clinical Trials

Significance of FH in Diseases

Renal Cell Carcinoma +

Gastrointestinal Stromal Tumor +

Paraganglioma +

Malignant Solid Tumor +

Papillary Renal Cell Carcinoma +

Peritoneal Mesothelioma +

Non-Small Cell Lung Carcinoma +

Breast Carcinoma +

Clear Cell Renal Cell Carcinoma +

Hereditary Leiomyomatosis And Renal Cell Cancer +

Pleural Mesothelioma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.