Biomarkers /
FANCF
Overview
Fanconi anemia, complementation group F (FANCF) is a gene that encodes a protein that is a member of the Fanconi anemia complementation group. The protein complex functions in the heterogeneous recessive disorder Fanconi anemia that causes cytogenetic instability, hypersensitivity to DNA crosslinking agents, increases chromosomal breakage, and defective DNA repair. Missense, nonsense, and silent mutations are observed in cancers such as intestinal cancer, lung cancer, and skin cancer.
FANCF is altered in 1.01% of all cancers with colon adenocarcinoma, lung adenocarcinoma, breast invasive ductal carcinoma, endometrial endometrioid adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].
The most common alterations in FANCF are FANCF Mutation (0.97%), FANCF Nonsense (0.08%), FANCF Frameshift (0.06%), FANCF R216P (0.08%), and FANCF L162fs (0.04%) [3].
Clinical Trials
Significance of FANCF 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.