Overview

Location [1]
4q21.3-q22.1
Protein [2]
AF4/FMR2 family member 1
Synonyms [1]
MLLT2, PBM1, AF4

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 1.09% of all cancers with non-small cell lung carcinoma, uterine corpus neoplasm, and central nervous system yolk sac tumor having the greatest prevalence of alterations [3].

AFF1 GENIE Cases - Top Diseases

The most common alterations in AFF1 are AFF1 A1164T (0.00%), AFF1 A136T (0.00%), AFF1 E1008K (0.00%), AFF1 K384R (0.00%), and AFF1 K607N (0.00%) [3].

AFF1 GENIE Cases - Top Alterations

Significance of AFF1 in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Chronic Myeloid Leukemia +

Hodgkin Lymphoma +

Non-Hodgkin Lymphoma +

Multiple Myeloma +

Burkitt Lymphoma +

Acute Biphenotypic Leukemia +

Acute Leukemia +

Chronic Lymphocytic Leukemia +

Chronic Myelomonocytic Leukemia +

Follicular Lymphoma +

Mantle Cell Lymphoma +

Marginal Zone Lymphoma +

Myelofibrosis +

Myeloproliferative Neoplasm +

Anaplastic Large Cell Lymphoma +

Lymphoma +

Prolymphocytic Leukemia +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Juvenile Myelomonocytic Leukemia +

Lymphoplasmacytic Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Small Lymphocytic Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Diffuse Large B-Cell Lymphoma +

Lymphoblastic Lymphoma +

Plasma Cell Leukemia +

Double-Hit Lymphoma +

Malignant Solid Tumor +

Primary Myelofibrosis +

Refractory Anemia With Excess Blasts +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Acute Leukemia Of Ambiguous Lineage +

Acute Undifferentiated Leukemia +

Adult T-Cell Leukemia/Lymphoma +

B-Cell Acute Lymphoblastic Leukemia +

Burkitt Leukemia +

Hematopoietic And Lymphoid Malignancy +

Mature T-Cell And NK-Cell Lymphoma/Leukemia +

Mature T-Cell And NK-Cell Neoplasm +

Mediastinal Large B-Cell Lymphoma +

Mixed Phenotype Acute Leukemia +

Myeloid Sarcoma +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

T-Cell Non-Hodgkin Lymphoma +

Acute Erythroid Leukemia +

Acute Megakaryoblastic Leukemia +

Acute Promyelocytic Leukemia +

Adult Acute Lymphoblastic Leukemia +

Aggressive Non-Hodgkin Lymphoma +

B-Cell Lymphoma, Unclassifiable, With Features Intermediate Between Diffuse Large B-Cell Lymphoma And Classical Hodgkin Lymphoma +

B-Cell Prolymphocytic Leukemia +

Blastic Plasmacytoid Dendritic Cell Neoplasm +

Desmoplastic Small Round Cell Tumor +

Diffuse Large B-Cell Lymphoma, Not Otherwise Specified +

Ewing Sarcoma +

Germinal Center B-Cell-Like Diffuse Large B-Cell Lymphoma +

Hepatocellular Carcinoma +

Lymphomatoid Granulomatosis +

Mature B-Cell Lymphoma/Leukemia +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Myeloma +

Neuroblastoma +

Peripheral T-Cell Lymphoma +

Plasma Cell Neoplasm +

Polycythemia Vera +

Primary Central Nervous System Lymphoma +

Primary Effusion Lymphoma +

Refractory Anemia +

Refractory Anemia With Excess Blasts-2 +

Rhabdomyosarcoma +

Secondary Acute Myeloid Leukemia +

Secondary Myelodysplastic Syndrome +

Secondary Myelofibrosis +

Small Lymphocytic Leukemia +

T-Cell Acute Lymphoblastic Leukemia +

T-Cell Prolymphocytic Leukemia +

T-Cell And NK-Cell Neoplasm +

T-Cell/Histiocyte-Rich Large B-Cell Lymphoma +

Therapy-Related Acute Myeloid Leukemia +

Therapy-Related Myeloid Neoplasm +

Waldenstrom Macroglobulinemia +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.