Overview

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

PDGFRA Mutation is present in 2.03% of AACR GENIE cases, with lung adenocarcinoma, colon adenocarcinoma, cutaneous melanoma, gastrointestinal stromal tumor, and conventional glioblastoma multiforme 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 +

Malignant Glioma +

Squamous Cell Lung Carcinoma +

Small Cell Lung Carcinoma +

Urothelial Carcinoma +

Ovarian Carcinoma +

Gastric Adenocarcinoma +

Renal Cell Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Aggressive Systemic Mastocytosis +

Esophageal Carcinoma +

Hepatocellular Carcinoma +

Mast Cell Leukemia +

Multiple Myeloma +

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

Glioblastoma +

Lung Carcinoma +

Endometrial Carcinoma +

Bladder Carcinoma +

Malignant Uterine Neoplasm +

B-Cell Non-Hodgkin Lymphoma +

Lymphoma +

Gastric Carcinoma +

Thyroid Gland Carcinoma +

Hepatobiliary Neoplasm +

Malignant Hepatobiliary Neoplasm +

Myeloid Neoplasm +

Leukemia +

Prostate Carcinoma +

Acute Myeloid Leukemia +

Acute Lymphoblastic Leukemia +

Bile Duct Carcinoma +

Bronchogenic Carcinoma +

Cervical Carcinoma +

Cholangiocarcinoma +

Chondrosarcoma +

Chronic Myeloid Leukemia +

Classical Hodgkin Lymphoma +

Desmoid-Type Fibromatosis +

Diffuse Intrinsic Pontine Glioma +

Esophageal Squamous Cell Carcinoma +

Ewing Sarcoma +

Gallbladder Carcinoma +

Head And Neck Carcinoma +

Hematologic And Lymphocytic Disorder +

Hematopoietic And Lymphoid Malignancy +

Hematopoietic And Lymphoid System Neoplasm +

Histiocytic And Dendritic Cell Neoplasm +

Lip And Oral Cavity Carcinoma +

Liposarcoma +

Malignant Germ Cell Tumor +

Malignant Laryngeal Neoplasm +

Malignant Salivary Gland Neoplasm +

Myelodysplastic Syndromes +

Nasal Cavity And Paranasal Sinus Carcinoma +

Nasopharyngeal Carcinoma +

Oropharyngeal Carcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Osteosarcoma +

Pecoma +

Penile Carcinoma +

Peritoneal Mesothelioma +

Soft Tissue Sarcoma +

Systemic Mastocytosis +

Thymic Carcinoma +

Undifferentiated Pleomorphic Sarcoma +

WHO Grade II Glioma +

WHO Grade III 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 6. 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.