Biomarkers /
AFF1
Overview
AF4/FMR2 family, member 1 (AFF1) is a gene that encodes a protein that functions in sequences-specific DNA binding transcription factor activity. Fusions, missense mutations and silent mutations are observed in cancers such as breast cancer and intestinal cancer.
AFF1 is altered in 0.26% of all cancers with high grade ovarian serous adenocarcinoma, colon adenocarcinoma, B-cell lymphoblastic leukemia/lymphoma, bladder urothelial carcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].
The most common alterations in AFF1 are AFF1-KMT2A Fusion (0.03%), AFF1 F959S (0.77%), AFF1 K670M (0.35%), AFF1 K961R (0.77%), and AFF1 A1040_Q1043del (0.22%) [3].
Clinical Trials
Significance of AFF1 in Diseases
B-Cell Lymphoma, Unclassifiable, With Features Intermediate Between Diffuse Large B-Cell Lymphoma And Classical Hodgkin Lymphoma +
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.