Overview

Gene Location [1]
4q12
Pathway
Receptor tyrosine kinase/growth factor signaling
Variant Type
Amplification
Gene
PDGFRA

PDGFRA Amplification is present in 0.52% of AACR GENIE cases, with malignant glioma, sarcoma, melanoma, breast carcinoma, and non-small cell lung carcinoma having the greatest prevalence [4].

Top Disease Cases with PDGFRA Amplification

Significance of PDGFRA Amplification in Diseases

Malignant Solid Tumor +

Non-Small Cell Lung Carcinoma +

Breast Carcinoma +

Cancer +

Non-Hodgkin Lymphoma +

Glioblastoma +

Small Cell Lung Carcinoma +

Glioma +

Squamous Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Endometrial Carcinoma +

Pancreatic Carcinoma +

Nasopharyngeal Carcinoma +

Gastrointestinal Stromal Tumor +

Thyroid Gland Carcinoma +

Melanoma +

Renal Cell Carcinoma +

Prostate Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Cholangiocarcinoma +

Colorectal Carcinoma +

Diffuse Intrinsic Pontine Glioma +

Esophageal Carcinoma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Hepatobiliary Neoplasm +

Hepatocellular Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Lip And Oral Cavity Carcinoma +

Malignant Laryngeal Neoplasm +

Malignant Salivary Gland Neoplasm +

Multiple Myeloma +

Nasal Cavity And Paranasal Sinus Carcinoma +

Oropharyngeal Carcinoma +

Ovarian Carcinoma +

Peritoneal Mesothelioma +

Thymic Carcinoma +

Urothelial Carcinoma +

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. 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 4. 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.