Overview

Location [1]
1p12
Pathway
Immune checkpoints
Synonyms [1]
-

Family with sequence similarity 46, member C (FAM46C) is a gene that encodes a protein that responds to type I interferon to augment the replication of viruses. Missense, nonsense, and silent mutations are observed in cancers such as cancers of the central nervous system, intestinal cancer, and skin cancer.

FAM46C is altered in 0.77% of all cancers with lung adenocarcinoma, cutaneous melanoma, colon adenocarcinoma, breast invasive ductal carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

FAM46C GENIE Cases - Top Diseases

The most common alterations in FAM46C are FAM46C Amplification (0.14%), FAM46C Loss (0.08%), FAM46C R58Q (0.01%), FAM46C R174W (0.01%), and FAM46C R38* (0.02%) [3].

FAM46C GENIE Cases - Top Alterations

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.