Associated Genetic Biomarkers

Overview

Gene Location [1]
8p11.23
Pathways
Receptor tyrosine kinase/growth factor signaling, Kinase fusions
Gene
FGFR1

FGFR1 Mutation is present in 1.12% of AACR GENIE cases, with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, endometrial endometrioid adenocarcinoma, and conventional glioblastoma multiforme having the greatest prevalence [4].

Top Disease Cases with FGFR1 Mutation

Significance of FGFR1 Mutation in Diseases

Malignant Solid Tumor +

Urothelial Carcinoma +

Non-Small Cell Lung Carcinoma +

Cholangiocarcinoma +

Cancer +

Breast Carcinoma +

Multiple Myeloma +

Endometrial Carcinoma +

Gastric Carcinoma +

Squamous Cell Lung Carcinoma +

Bladder Carcinoma +

Colorectal Carcinoma +

Esophageal Carcinoma +

Non-Hodgkin Lymphoma +

Pancreatic Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Head And Neck Squamous Cell Carcinoma +

Anaplastic Oligodendroglioma +

Small Cell Lung Carcinoma +

Glioma +

Glioblastoma +

Cervical Carcinoma +

Melanoma +

Malignant Uterine Neoplasm +

Lung Carcinoma +

Ovarian Carcinoma +

Gastric Adenocarcinoma +

Sarcoma +

Gastrointestinal Stromal Tumor +

Hepatobiliary Neoplasm +

Malignant Hepatobiliary Neoplasm +

Pancreatic Adenocarcinoma +

Anaplastic Astrocytoma +

B-Cell Non-Hodgkin Lymphoma +

Bile Duct Carcinoma +

Bladder Papillary Urothelial Carcinoma +

Bronchogenic Carcinoma +

Esophageal Squamous Cell Carcinoma +

Extrahepatic Cholangiocarcinoma +

Gallbladder Carcinoma +

Head And Neck Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Intrahepatic Cholangiocarcinoma +

Lip And Oral Cavity Carcinoma +

Malignant Laryngeal Neoplasm +

Malignant Salivary Gland Neoplasm +

Myeloproliferative Neoplasm +

Nasal Cavity And Paranasal Sinus Carcinoma +

Nasopharyngeal Carcinoma +

Oropharyngeal Carcinoma +

Stage 0is Bladder Urothelial 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.