Associated Genetic Biomarkers

Overview

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

KIT Mutation is present in 2.24% of AACR GENIE cases, with gastrointestinal stromal tumor, lung adenocarcinoma, colon adenocarcinoma, melanoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with KIT Mutation

Significance of KIT Mutation in Diseases

Acute Myeloid Leukemia +

Malignant Solid Tumor +

Myelodysplastic Syndromes +

Gastrointestinal Stromal Tumor +

Acute Lymphoblastic Leukemia +

Melanoma +

Chronic Myeloid Leukemia +

Non-Small Cell Lung Carcinoma +

Non-Hodgkin Lymphoma +

Multiple Myeloma +

Breast Carcinoma +

Chronic Myelomonocytic Leukemia +

Hodgkin Lymphoma +

Colorectal Carcinoma +

Acute Biphenotypic Leukemia +

Chronic Lymphocytic Leukemia +

Lymphoma +

Pancreatic Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Acute Leukemia +

Cancer +

Ovarian Carcinoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Double-Hit Lymphoma +

Myeloproliferative Neoplasm +

Refractory Anemia With Excess Blasts +

Small Lymphocytic Lymphoma +

Squamous Cell Lung Carcinoma +

Small Cell Lung Carcinoma +

Hepatocellular Carcinoma +

Glioblastoma +

Urothelial Carcinoma +

Bladder Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Gastric Adenocarcinoma +

Prostate Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Aggressive Systemic Mastocytosis +

Head And Neck Carcinoma +

Mast Cell Leukemia +

Renal Cell Carcinoma +

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

Mucosal Melanoma +

Malignant Germ Cell Tumor +

Acral Lentiginous Melanoma +

Endometrial Carcinoma +

Malignant Uterine Neoplasm +

Undifferentiated Pleomorphic Sarcoma +

Myeloid Neoplasm +

Malignant Glioma +

Lung Carcinoma +

Leukemia +

Soft Tissue Sarcoma +

Gastric Carcinoma +

Esophageal Carcinoma +

Hepatobiliary Neoplasm +

Malignant Hepatobiliary Neoplasm +

Sarcoma +

Thyroid Gland Carcinoma +

Acute Promyelocytic Leukemia +

Adult T-Cell Leukemia/Lymphoma +

Anaplastic Astrocytoma +

Anaplastic Large Cell Lymphoma +

Aplastic Anemia +

Bile Duct Carcinoma +

Bronchogenic Carcinoma +

Burkitt Lymphoma +

Cervical Carcinoma +

Cholangiocarcinoma +

Chondrosarcoma +

Classical Hodgkin Lymphoma +

Desmoid-Type Fibromatosis +

Diffuse Large B-Cell Lymphoma +

Esophageal Squamous Cell Carcinoma +

Ewing Sarcoma +

Fallopian Tube Carcinoma +

Follicular Lymphoma +

Gallbladder Carcinoma +

Hematologic And Lymphocytic Disorder +

Hematopoietic And Lymphoid Malignancy +

Hematopoietic And Lymphoid System Neoplasm +

Histiocytic And Dendritic Cell Neoplasm +

Juvenile Myelomonocytic Leukemia +

Lip And Oral Cavity Carcinoma +

Liposarcoma +

Lymphoblastic Lymphoma +

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 +

Myelofibrosis +

Nasal Cavity And Paranasal Sinus Carcinoma +

Nasopharyngeal Carcinoma +

Oropharyngeal Carcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Osteosarcoma +

Pecoma +

Penile Carcinoma +

Peritoneal Mesothelioma +

Primary Peritoneal Carcinoma +

Prolymphocytic Leukemia +

Refractory Anemia +

Refractory Anemia With Excess Blasts-2 +

Secondary Acute Myeloid Leukemia +

Small Lymphocytic Leukemia +

Systemic Mastocytosis +

Therapy-Related Chronic Myelomonocytic Leukemia +

Therapy-Related Myelodysplastic Syndrome +

Thymic Carcinoma +

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.