Biomarkers /
HNF1A
Overview
HNF1 homeobox A (HNF1A) is a gene that encodes a transcription factor protein that functions in the expression of liver-specific genes. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions and insertions are observed in cancers such as intestinal cancer, liver cancer, and skin cancer.
HNF1A is altered in 1.25% of all cancers with colon adenocarcinoma, lung adenocarcinoma, endometrial endometrioid adenocarcinoma, cutaneous melanoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].
The most common alterations in HNF1A are HNF1A Mutation (1.00%), HNF1A Amplification (0.06%), HNF1A Loss (0.05%), HNF1A R321C (0.02%), and HNF1A Fusion (0.05%) [3].
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.