Associated Diseases


Variant Type

Biomarker-Directed Therapies

Significance of HER2 Overexpression 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 +

Endometrial Carcinoma +

Breast Adenocarcinoma +

Esophageal Adenocarcinoma +

Head And Neck Squamous Cell Carcinoma +

Melanoma +

Esophageal Carcinoma +

Pancreatic Carcinoma +

Invasive Breast Carcinoma +

Ovarian Carcinoma +

Urothelial Carcinoma +

Bladder Carcinoma +

Ductal Carcinoma In Situ +

Hepatocellular Carcinoma +

Bile Duct Carcinoma +

Cancer +

Cervical Carcinoma +

Gallbladder Carcinoma +

Inflammatory Breast Carcinoma +

Non-Hodgkin Lymphoma +

Prostate Carcinoma +

Renal Cell Carcinoma +

Squamous Cell Lung Carcinoma +

Biliary Tract Carcinoma +

Central Nervous System Neoplasm +

Cholangiocarcinoma +

Colorectal Adenocarcinoma +

Esophageal Squamous Cell Carcinoma +

Glioblastoma +

Head And Neck Carcinoma +

Leukemia +

Lung Carcinoma +

Non-Squamous Non-Small Cell Lung Carcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Aggressive Systemic Mastocytosis +

Ampulla Of Vater Carcinoma +

Biliary Tract Neoplasm +

Brain Metastasis +

Breast Invasive Ductal Carcinoma +

Bronchogenic Carcinoma +

Carcinoma +

Chondrosarcoma +

Classical Hodgkin Lymphoma +

Desmoid-Type Fibromatosis +

Digestive System Carcinoma +

Ependymoma +

Ewing Sarcoma +

Germ Cell Tumor +

Glioma +

Gliosarcoma +

Hematologic And Lymphocytic Disorder +

Hematopoietic And Lymphoid Malignancy +

Hematopoietic And Lymphoid System Neoplasm +

Histiocytic And Dendritic Cell Neoplasm +

Hypopharyngeal Squamous Cell Carcinoma +

Laryngeal Squamous Cell Carcinoma +

Liposarcoma +

Low Grade Glioma +

Lung Adenocarcinoma +

Lymphoma +

Malignant Bone Marrow Neoplasm +

Malignant Glioma +

Malignant Ovarian Epithelial Tumor +

Malignant Uterine Neoplasm +

Mast Cell Leukemia +

Medulloblastoma +

Myelodysplastic Syndromes +

Myeloid Neoplasm +

Oral Cavity Squamous Cell Carcinoma +

Osteosarcoma +

Pecoma +

Peritoneal Mesothelioma +

Salivary Carcinoma, NOS +

Salivary Duct Carcinoma +

Salivary Gland Acinic Cell Carcinoma +

Salivary Gland Adenocarcinoma +

Salivary Gland Carcinoma Ex Pleomorphic Adenoma +

Salivary Gland Mucoepidermoid Carcinoma +

Salivary Gland Small Cell Carcinoma +

Salivary Gland Squamous Cell Carcinoma +

Sarcoma +

Small Cell Lung Carcinoma +

Small Intestinal Carcinoma +

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

Thyroid Gland Carcinoma +

Undifferentiated Pleomorphic Sarcoma +

Uterine Carcinosarcoma +

Uterine Corpus Carcinosarcoma +


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 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.