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

RET Mutation is present in 1.90% of AACR GENIE cases, with lung adenocarcinoma, colon adenocarcinoma, thyroid gland medullary carcinoma, cutaneous melanoma, and melanoma having the greatest prevalence [4].

Top Disease Cases with RET Mutation

Biomarker-Directed Therapies

Significance of RET Mutation in Diseases

Thyroid Gland Medullary Carcinoma +

Malignant Solid Tumor +

Non-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Pancreatic Carcinoma +

Thyroid Gland Carcinoma +

Melanoma +

Esophageal Carcinoma +

Ovarian Carcinoma +

Renal Cell Carcinoma +

Breast Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Squamous Cell Lung Carcinoma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Endometrial Carcinoma +

Oropharyngeal Carcinoma +

Urothelial Carcinoma +

Lung Carcinoma +

Bladder Carcinoma +

Cancer +

Malignant Uterine Neoplasm +

Non-Hodgkin Lymphoma +

Bile Duct Carcinoma +

Malignant Central Nervous System Neoplasm +

Hepatobiliary Neoplasm +

Malignant Hepatobiliary Neoplasm +

Malignant Salivary Gland Neoplasm +

Soft Tissue Sarcoma +

Adrenal Cortex Carcinoma +

Adrenal Gland Pheochromocytoma +

Alveolar Soft Part Sarcoma +

Bronchogenic Carcinoma +

Cervical Carcinoma +

Clear Cell Sarcoma Of Soft Tissue +

Esophageal Squamous Cell Carcinoma +

Ewing Sarcoma +

Gallbladder Carcinoma +

Gastrointestinal Stromal Tumor +

Head And Neck Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Hepatoblastoma +

Hepatocellular Carcinoma +

Lip And Oral Cavity Carcinoma +

Malignant Laryngeal Neoplasm +

Multiple Myeloma +

Nasal Cavity And Paranasal Sinus Carcinoma +

Nasopharyngeal Carcinoma +

Osteosarcoma +

Poorly Differentiated Thyroid Gland Carcinoma +

Rhabdomyosarcoma +

Wilms Tumor +


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.