Overview

Gene Location [1]
5q32
Pathway
Receptor tyrosine kinase/growth factor signaling
Gene
CSF1R

CSF1R Mutation is present in 1.24% of AACR GENIE cases, with lung adenocarcinoma, colon adenocarcinoma, cutaneous melanoma, endometrial endometrioid adenocarcinoma, and prostate adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with CSF1R Mutation

Significance of CSF1R Mutation in Diseases

Malignant Solid Tumor +

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 +

Soft Tissue Sarcoma +

B-Cell Non-Hodgkin Lymphoma +

Bronchogenic Carcinoma +

Multiple Myeloma +

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. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. 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.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.