Overview

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

KIT Mutation is present in 2.52% of AACR GENIE cases, with connective and soft tissue neoplasm, non-small cell lung carcinoma, melanoma, colorectal adenocarcinoma, and uterine corpus neoplasm having the greatest prevalence [4].

Top Disease Cases with KIT Mutation

Significance of KIT Mutation in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Malignant Solid Tumor +

Gastrointestinal Stromal Tumor +

Melanoma +

Acute Lymphoblastic Leukemia +

Non-Hodgkin Lymphoma +

Chronic Myeloid Leukemia +

Multiple Myeloma +

Non-Small Cell Lung Carcinoma +

Breast Carcinoma +

Chronic Myelomonocytic Leukemia +

Acute Biphenotypic Leukemia +

Hodgkin Lymphoma +

Lymphoma +

Chronic Lymphocytic Leukemia +

Acute Leukemia +

Head And Neck Squamous Cell Carcinoma +

Cancer +

Myelodysplastic/Myeloproliferative Neoplasm +

Pancreatic Carcinoma +

Double-Hit Lymphoma +

Refractory Anemia With Excess Blasts +

Small Lymphocytic Lymphoma +

Endometrial Carcinoma +

Squamous Cell Lung Carcinoma +

Glioblastoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Colorectal Carcinoma +

Myeloproliferative Neoplasm +

B-Cell Non-Hodgkin Lymphoma +

Ovarian Carcinoma +

Mucosal Melanoma +

Anaplastic Large Cell Lymphoma +

Acral Lentiginous Melanoma +

Nasal Cavity And Paranasal Sinus Carcinoma +

Thymic Carcinoma +

Small Cell Lung Carcinoma +

Hepatocellular Carcinoma +

Urothelial Carcinoma +

Diffuse Large B-Cell Lymphoma +

Bladder Carcinoma +

Nasopharyngeal Carcinoma +

Head And Neck Carcinoma +

Gastric Adenocarcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Gastric Carcinoma +

Esophageal Carcinoma +

Thyroid Gland Carcinoma +

Anaplastic Astrocytoma +

Follicular Lymphoma +

Prostate Carcinoma +

Sarcoma +

Cholangiocarcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Myelofibrosis +

Renal Cell Carcinoma +

Acute Promyelocytic Leukemia +

Adult T-Cell Leukemia/Lymphoma +

Burkitt Lymphoma +

Hepatobiliary Neoplasm +

Juvenile Myelomonocytic Leukemia +

Lip And Oral Cavity Carcinoma +

Lymphoplasmacytic Lymphoma +

Malignant Laryngeal Neoplasm +

Malignant Salivary Gland Neoplasm +

Mantle Cell Lymphoma +

Marginal Zone Lymphoma +

Mature B-Cell Lymphoma/Leukemia +

Mature T-Cell And NK-Cell Lymphoma/Leukemia +

Mediastinal Large B-Cell Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myeloid Sarcoma +

Oropharyngeal Carcinoma +

Peritoneal Mesothelioma +

Prolymphocytic Leukemia +

Refractory Anemia +

Refractory Anemia With Excess Blasts-2 +

Small Lymphocytic Leukemia +

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.