Location [1]
Receptor tyrosine kinase/growth factor signaling
Protein [2]
Macrophage colony-stimulating factor 1 receptor
Synonyms [1]

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 1.40% of all cancers with lung adenocarcinoma, colon adenocarcinoma, cutaneous melanoma, endometrial endometrioid adenocarcinoma, and prostate adenocarcinoma having the greatest prevalence of alterations [3].

CSF1R GENIE Cases - Top Diseases

The most common alterations in CSF1R are CSF1R Mutation (1.24%), CSF1R Amplification (0.11%), CSF1R Loss (0.10%), CSF1R Fusion (0.03%), and CSF1R R106Q (0.03%) [3].

CSF1R GENIE Cases - Top Alterations

Significance of CSF1R in Diseases

Malignant Solid Tumor +

Acute Lymphoblastic Leukemia +

Melanoma +

Malignant Uterine Neoplasm +

Esophageal Squamous Cell Carcinoma +

Non-Small Cell Lung Carcinoma +

Bladder Carcinoma +

Lung Carcinoma +

Colorectal Carcinoma +

Gastric Adenocarcinoma +

Head And Neck Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Ovarian Carcinoma +

Pancreatic Carcinoma +

Bile Duct Carcinoma +

Gallbladder Carcinoma +

Breast Carcinoma +

Cervical Carcinoma +

Multiple Myeloma +

Soft Tissue Sarcoma +

B-Cell Non-Hodgkin Lymphoma +

Bronchogenic Carcinoma +

Mixed Phenotype Acute Leukemia +


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.