Associated Genetic Biomarkers
Associated Diseases
Associated Pathways


Gene Location [1]
Receptor tyrosine kinase/growth factor signaling
Variant Type

ERBB2 Amplification is present in 3.30% of AACR GENIE cases, with breast invasive ductal carcinoma, invasive breast carcinoma, esophageal adenocarcinoma, lung adenocarcinoma, and colon adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with ERBB2 Amplification

Biomarker-Directed Therapies

Significance of ERBB2 Amplification in Diseases

Breast Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Gastric Carcinoma +

Colorectal Carcinoma +

Malignant Salivary Gland Neoplasm +

Malignant Esophageal Neoplasm +

Malignant Solid Tumor +

Gastric Adenocarcinoma +

Non-Small Cell Lung Carcinoma +

Esophageal Adenocarcinoma +

Endometrial Carcinoma +

Invasive Breast Carcinoma +

Breast Adenocarcinoma +

Head And Neck Squamous Cell Carcinoma +

Pancreatic Carcinoma +

Melanoma +

Esophageal Carcinoma +

Urothelial Carcinoma +

Inflammatory Breast Carcinoma +

Ductal Carcinoma In Situ +

Ovarian Carcinoma +

Gallbladder Carcinoma +

Bladder Carcinoma +

Prostate Carcinoma +

Hepatocellular Carcinoma +

Esophageal Squamous Cell Carcinoma +

Biliary Tract Carcinoma +

Cancer +

Cervical Carcinoma +

Bile Duct Carcinoma +

Colorectal Adenocarcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Squamous Cell Lung Carcinoma +

Non-Hodgkin Lymphoma +

Renal Cell Carcinoma +

Laryngeal Squamous Cell Carcinoma +

Head And Neck Carcinoma +

Cholangiocarcinoma +

Lung Adenocarcinoma +

Non-Squamous Non-Small Cell Lung Carcinoma +

Lung Carcinoma +

Oral Cavity Squamous Cell Carcinoma +

Small Cell Lung Carcinoma +

Central Nervous System Neoplasm +

Glioblastoma +

Hypopharyngeal Squamous Cell Carcinoma +

Leukemia +

Liposarcoma +

Salivary Duct Carcinoma +

Salivary Gland Adenocarcinoma +

Breast Invasive Ductal Carcinoma +

Salivary Carcinoma, NOS +

Endometrial Serous Adenocarcinoma +

Uterine Carcinosarcoma +

Uterine Corpus Carcinosarcoma +

Salivary Gland Carcinoma +

Extrahepatic Cholangiocarcinoma +

Digestive System Carcinoma +

Carcinoma +

Malignant Digestive System Neoplasm +

Biliary Tract Neoplasm +

Malignant Endometrial Neoplasm +

Malignant Uterine Neoplasm +

Ampulla Of Vater Carcinoma +

Malignant Urethral Neoplasm +

Malignant Laryngeal Neoplasm +

Malignant Hepatobiliary Neoplasm +

Hepatobiliary Neoplasm +

Malignant Ovarian Epithelial Tumor +

Malignant Ovarian Neoplasm +

Malignant Colorectal Neoplasm +

Small Intestinal Carcinoma +

Intrahepatic Cholangiocarcinoma +

Oropharyngeal Carcinoma +

Lip And Oral Cavity Carcinoma +

Oral Cavity Carcinoma +

Pancreatic Adenocarcinoma +

B-Cell Non-Hodgkin Lymphoma +

Germ Cell Tumor +

Lymphoma +

Hematologic And Lymphocytic Disorder +

Hematopoietic And Lymphoid Malignancy +

Hematopoietic And Lymphoid System Neoplasm +

Glioma +

Sarcoma +

Aggressive Systemic Mastocytosis +

Bronchogenic Carcinoma +

Chondrosarcoma +

Classical Hodgkin Lymphoma +

Desmoid-Type Fibromatosis +

Ependymoma +

Esophageal Adenosquamous Carcinoma +

Ewing Sarcoma +

Gastric Adenosquamous Carcinoma +

Gastric Squamous Cell Carcinoma +

Gastrointestinal Stromal Tumor +

Gliosarcoma +

Histiocytic And Dendritic Cell Neoplasm +

Low Grade Glioma +

Malignant Bone Marrow Neoplasm +

Malignant Glioma +

Mast Cell Leukemia +

Medulloblastoma +

Metastatic Malignant Neoplasm In The Brain +

Multiple Myeloma +

Myelodysplastic Syndromes +

Myeloid Neoplasm +

Nasal Cavity And Paranasal Sinus Carcinoma +

Nasopharyngeal Carcinoma +

Osteosarcoma +

Pecoma +

Peritoneal Mesothelioma +

Salivary Gland Acinic Cell Carcinoma +

Salivary Gland Carcinoma Ex Pleomorphic Adenoma +

Salivary Gland Mucoepidermoid Carcinoma +

Salivary Gland Small Cell Carcinoma +

Salivary Gland Squamous Cell Carcinoma +

Soft Tissue Sarcoma +

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

Thymic Carcinoma +

Thyroid Gland Carcinoma +

Undifferentiated Pleomorphic Sarcoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015.

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 8. 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.