Overview

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

PDGFRA Fusion is present in 0.09% of AACR GENIE cases, with glioblastoma, lung adenocarcinoma, breast invasive ductal carcinoma, conventional glioblastoma multiforme, and high grade ovarian serous adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with PDGFRA Fusion

Biomarker-Directed Therapies

Significance of PDGFRA Fusion in Diseases

Myelodysplastic/Myeloproliferative Neoplasm +

Cancer +

Malignant Glioma +

Multiple Myeloma +

WHO Grade III Glioma +

Gastrointestinal Stromal Tumor +

Non-Small Cell Lung Carcinoma +

Pancreatic Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Diffuse Intrinsic Pontine Glioma +

Esophageal Carcinoma +

Gastric Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Hepatobiliary Neoplasm +

Lip And Oral Cavity Carcinoma +

Malignant Hepatobiliary Neoplasm +

Malignant Laryngeal Neoplasm +

Malignant Salivary Gland Neoplasm +

Nasal Cavity And Paranasal Sinus Carcinoma +

Nasopharyngeal Carcinoma +

Oropharyngeal Carcinoma +

Urothelial Carcinoma +

WHO Grade II Glioma +

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.