Overview

Gene Location [1]
2p23.2-p23.1
Pathways
Kinase fusions, Receptor tyrosine kinase/growth factor signaling
Gene
ALK

ALK Mutation is present in 2.84% of AACR GENIE cases, with non-small cell lung carcinoma, colorectal adenocarcinoma, melanoma, breast carcinoma, and uterine corpus neoplasm having the greatest prevalence [4].

Top Disease Cases with ALK Mutation

Significance of ALK Mutation in Diseases

Non-Small Cell Lung Carcinoma +

Malignant Solid Tumor +

Cancer +

Neuroblastoma +

Lymphoma +

Non-Hodgkin Lymphoma +

Anaplastic Large Cell Lymphoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Diffuse Large B-Cell Lymphoma +

Gastric Carcinoma +

Colorectal Carcinoma +

Melanoma +

Malignant Neoplasm +

Small Intestinal Carcinoma +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Lung Carcinoma +

Esophageal Carcinoma +

Mature B-Cell Non-Hodgkin Lymphoma +

Glioblastoma +

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +

Hepatocellular Carcinoma +

Follicular Lymphoma +

Breast Carcinoma +

Pancreatic Adenocarcinoma +

Cholangiocarcinoma +

Pancreatic Carcinoma +

Burkitt Lymphoma +

Central Nervous System Neoplasm +

Diffuse Large B-Cell Lymphoma, Not Otherwise Specified +

Double-Hit Lymphoma +

Germinal Center B-Cell-Like Diffuse Large B-Cell Lymphoma +

Hodgkin Lymphoma +

Lymphoblastic Lymphoma +

Mantle Cell Lymphoma +

Multiple Myeloma +

Mycosis Fungoides +

Sezary Syndrome +

T-Cell/Histiocyte-Rich Large B-Cell Lymphoma +

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.