Gene Location [1]
Receptor tyrosine kinase/growth factor signaling

PDGFRA Mutation is present in 2.26% of AACR GENIE cases, with lung adenocarcinoma, colon adenocarcinoma, cutaneous melanoma, conventional glioblastoma multiforme, and gastrointestinal stromal tumor having the greatest prevalence [4].

Top Disease Cases with PDGFRA Mutation

Biomarker-Directed Therapies

Significance of PDGFRA Mutation in Diseases

Gastrointestinal Stromal Tumor +

Malignant Solid Tumor +

Non-Small Cell Lung Carcinoma +

Breast Carcinoma +

Melanoma +

Colorectal Carcinoma +

Cancer +

Head And Neck Squamous Cell Carcinoma +

Non-Hodgkin Lymphoma +

Pancreatic Carcinoma +

Multiple Myeloma +

Malignant Glioma +

Squamous Cell Lung Carcinoma +

Soft Tissue Sarcoma +

Small Cell Lung Carcinoma +

Urothelial Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Ovarian Carcinoma +

Gastric Adenocarcinoma +

Lymphoma +

Renal Cell Carcinoma +

Hepatocellular Carcinoma +

Aggressive Systemic Mastocytosis +

Mast Cell Leukemia +

Systemic Mastocytosis With An Associated Hematological Neoplasm (SM-AHN) +

Diffuse Intrinsic Pontine Glioma +

Penile Carcinoma +

WHO Grade III Glioma +

Endometrial Carcinoma +

Malignant Uterine Neoplasm +

Lung Carcinoma +

WHO Grade II Glioma +

Nasal Cavity And Paranasal Sinus Carcinoma +

Esophageal Squamous Cell Carcinoma +

Bladder Carcinoma +

Liposarcoma +

Cervical Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Oropharyngeal Carcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Head And Neck Carcinoma +

Esophageal Carcinoma +

Undifferentiated Pleomorphic Sarcoma +

Lip And Oral Cavity Carcinoma +

Gastric Carcinoma +

Malignant Laryngeal Neoplasm +

Gallbladder Carcinoma +

Prostate Carcinoma +

Hematologic And Lymphocytic Disorder +

Hepatobiliary Neoplasm +

Malignant Hepatobiliary Neoplasm +

Chondrosarcoma +

Bile Duct Carcinoma +

Cholangiocarcinoma +

Hematopoietic And Lymphoid Malignancy +

Hematopoietic And Lymphoid System Neoplasm +

Myelodysplastic Syndromes +

Thyroid Gland Carcinoma +

Malignant Salivary Gland Neoplasm +

Malignant Germ Cell Tumor +

Myeloid Neoplasm +

Leukemia +

Histiocytic And Dendritic Cell Neoplasm +

Osteosarcoma +

Acute Myeloid Leukemia +

Acute Lymphoblastic Leukemia +

Bronchogenic Carcinoma +

Chronic Myeloid Leukemia +

Classical Hodgkin Lymphoma +

Desmoid-Type Fibromatosis +

Ewing Sarcoma +

Nasopharyngeal Carcinoma +

Pecoma +

Peritoneal Mesothelioma +

Systemic Mastocytosis +

Thymic Carcinoma +


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.