Associated Genetic Biomarkers

Overview

Gene Location [1]
20q11.23
Pathways
Cellular architecture and microenvironment, MAP kinase signaling
Gene
SRC

SRC Mutation is present in 0.52% of AACR GENIE cases, with colon adenocarcinoma, lung adenocarcinoma, breast invasive ductal carcinoma, cutaneous melanoma, and bladder urothelial carcinoma having the greatest prevalence [4].

Top Disease Cases with SRC Mutation

Significance of SRC Mutation in Diseases

Malignant Solid Tumor +

Non-Small Cell Lung Carcinoma +

Melanoma +

Non-Hodgkin Lymphoma +

Glioma +

Histiocytic And Dendritic Cell Neoplasm +

Multiple Myeloma +

Neuroblastoma +

Ovarian Carcinoma +

Endometrial Carcinoma +

Cutaneous Melanoma +

Colorectal Carcinoma +

Squamous Cell Lung Carcinoma +

Pancreatic Carcinoma +

Breast Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Embryonal Rhabdomyosarcoma +

Hepatocellular Carcinoma +

Low Grade Glioma +

Malignant Peripheral Nerve Sheath Tumor +

Neurofibromatosis Type 1 +

Poorly Differentiated Thyroid Gland Carcinoma +

Renal Cell Carcinoma +

Rhabdoid Tumor +

Schwannoma +

Soft Tissue Sarcoma +

Thyroid Gland Carcinoma +

Thyroid Gland Undifferentiated (Anaplastic) 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.