Overview

Location [1]
5q32
Pathway
Receptor tyrosine kinase/growth factor signaling
Protein [2]
Macrophage colony-stimulating factor 1 receptor
Synonyms [1]
CD115, C-FMS, FMS, M-CSF-R, FIM2, HDLS, CSFR, CSF-1R

Colony stimulating factor 1 receptor (CSF1R) is a gene that encodes the receptor for colony stimulating factor 1. Missense mutations, nonsense mutations, silent mutations, and frameshift insertions and deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

CSF1R is altered in 1.18% of all cancers with lung adenocarcinoma, colon adenocarcinoma, cutaneous melanoma, endometrial endometrioid adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

CSF1R GENIE Cases - Top Diseases

The most common alterations in CSF1R are CSF1R Mutation (1.31%), CSF1R Amplification (0.08%), CSF1R Loss (0.04%), CSF1R A299T (0.01%), and CSF1R A629S (0.01%) [3].

CSF1R GENIE Cases - Top Alterations

Significance of CSF1R in Diseases

Acute Lymphoblastic Leukemia +

B-Cell Acute Lymphoblastic Leukemia +

Malignant Solid Tumor +

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Melanoma +

Malignant Uterine Neoplasm +

Non-Small Cell Lung Carcinoma +

Bladder Carcinoma +

Lung Carcinoma +

Colorectal Carcinoma +

Esophageal Carcinoma +

Gastric Adenocarcinoma +

Ovarian Carcinoma +

Pancreatic Carcinoma +

Breast Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

B-Cell Lymphoblastic Leukemia/Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Bile Duct Carcinoma +

Bronchogenic Carcinoma +

Cervical Carcinoma +

Chronic Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Esophageal Squamous Cell Carcinoma +

Gallbladder Carcinoma +

Head And Neck Carcinoma +

Mixed Phenotype Acute Leukemia +

Multiple Myeloma +

Secondary Acute Myeloid Leukemia +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Therapy-Related Acute Myeloid Leukemia +

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 6. 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.