Biomarkers /
FANCI
Overview
Fanconi anemia complementation group I (FANCI) is a gene that encodes a protein that functions in DNA repair. Missense mutations, synonymous mutations, nonsense mutations, frameshift insertions, and frameshift deletions are observed in cancers such as parathyroid cancer, colon cancer, and skin cancer.
FANCI is altered in 2.71% of all cancers with lung adenocarcinoma, colon adenocarcinoma, melanoma, breast invasive ductal carcinoma, and glioblastoma having the greatest prevalence of alterations [3].
The most common alterations in FANCI are FANCI Mutation (2.51%), FANCI Fusion (0.11%), FANCI G422R (0.08%), FANCI V467I (0.08%), and FANCI N836S (0.08%) [3].
Clinical Trials
Significance of FANCI 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.