Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
17q12
Pathway
Receptor tyrosine kinase/growth factor signaling
Protein [2]
Receptor tyrosine-protein kinase erbB-2
Synonyms [1]
HER-2, HER2, "MLN 19", CD340, NEU, NGL, TKR1, HER-2/neu

ERBB2 (v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2, also known as HER2 and neu) is a gene that encodes for the receptor tyrosine-protein kinase erbB-2. ERBB2 has been found to be amplified with an increased copy number in several cancers (PMID: 20185938). Amplification of ERBB2 promotes tumorigenesis and pathogenesis of several human cancers (PMID: 17471238). Recently, in breast cancer patients without ERBB2 gene amplification, activating ERBB2 mutations have also been identified (PMID: 23220880).

ERBB2 is altered in 4.98% of all cancers with breast invasive ductal carcinoma, lung adenocarcinoma, colon adenocarcinoma, bladder urothelial carcinoma, and invasive breast carcinoma having the greatest prevalence of alterations [3].

ERBB2 GENIE Cases - Top Diseases

The most common alterations in ERBB2 are ERBB2 Mutation (2.63%), ERBB2 Amplification (3.30%), ERBB2 Exon 20 Mutation (0.55%), ERBB2 Exon 20 Insertion (0.34%), and ERBB2 S310F (0.31%) [3].

ERBB2 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of ERBB2 in Diseases

Breast Carcinoma +

Non-Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Colorectal Carcinoma +

Gastric Carcinoma +

Malignant Salivary Gland Neoplasm +

Malignant Esophageal Neoplasm +

Malignant Solid Tumor +

Ovarian Carcinoma +

Invasive Breast Carcinoma +

Gastric Adenocarcinoma +

Breast Adenocarcinoma +

Head And Neck Squamous Cell Carcinoma +

Melanoma +

Pancreatic Carcinoma +

Urothelial Carcinoma +

Endometrial Carcinoma +

Renal Cell Carcinoma +

Fallopian Tube Carcinoma +

Small Cell Lung Carcinoma +

Prostate Carcinoma +

Primary Peritoneal Carcinoma +

Esophageal Carcinoma +

Bladder Carcinoma +

Hepatocellular Carcinoma +

Cervical Carcinoma +

Esophageal Adenocarcinoma +

Pancreatic Adenocarcinoma +

Head And Neck Carcinoma +

Soft Tissue Sarcoma +

Squamous Cell Lung Carcinoma +

Ductal Carcinoma In Situ +

Lymphoma +

Glioblastoma +

Inflammatory Breast Carcinoma +

Breast Invasive Ductal Carcinoma +

Colorectal Adenocarcinoma +

Pancreatic Ductal Adenocarcinoma +

Mesothelioma +

Cancer +

Cholangiocarcinoma +

Sarcoma +

Prostate Adenocarcinoma +

Nasopharyngeal Carcinoma +

Gallbladder Carcinoma +

Esophageal Squamous Cell Carcinoma +

Non-Hodgkin Lymphoma +

Esophagogastric Carcinoma +

Lung Adenocarcinoma +

Biliary Tract Carcinoma +

Malignant Ovarian Epithelial Tumor +

High Grade Ovarian Serous Adenocarcinoma +

Merkel Cell Carcinoma +

Multiple Myeloma +

Acute Myeloid Leukemia +

Peritoneal Mesothelioma +

Carcinoma +

Non-Squamous Non-Small Cell Lung Carcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Diffuse Large B-Cell Lymphoma +

Clear Cell Renal Cell Carcinoma +

Thymic Carcinoma +

Chronic Lymphocytic Leukemia +

Breast Invasive Lobular Carcinoma +

Skin Squamous Cell Carcinoma +

Malignant Uterine Neoplasm +

Colon Carcinoma +

Cutaneous Melanoma +

Lung Carcinoma +

Laryngeal Squamous Cell Carcinoma +

Bile Duct Carcinoma +

Intrahepatic Cholangiocarcinoma +

B-Cell Non-Hodgkin Lymphoma +

Hematopoietic And Lymphoid Malignancy +

Mantle Cell Lymphoma +

Gastrointestinal Stromal Tumor +

Myelodysplastic Syndromes +

Breast Lobular Carcinoma In Situ +

Classical Hodgkin Lymphoma +

High Grade Fallopian Tube Serous Adenocarcinoma +

Hypopharyngeal Squamous Cell Carcinoma +

Malignant Pleural Mesothelioma +

Pleural Mesothelioma +

Small Intestinal Adenocarcinoma +

Endometrial Serous Adenocarcinoma +

Primary Peritoneal Serous Adenocarcinoma +

Lobular Breast Carcinoma +

Uterine Corpus Carcinosarcoma +

Salivary Gland Carcinoma +

Endometrial Endometrioid Adenocarcinoma +

Mixed Lobular And Ductal Breast Carcinoma +

Extrahepatic Cholangiocarcinoma +

Malignant Ovarian Clear Cell Tumor +

Cervical Squamous Cell Carcinoma +

Neuroendocrine Carcinoma +

Oropharyngeal Carcinoma +

Thymoma +

Oral Cavity Carcinoma +

Oral Cavity Squamous Cell Carcinoma +

Malignant Glioma +

Central Nervous System Neoplasm +

Medulloblastoma +

Kidney Carcinoma +

Liposarcoma +

Adenoid Cystic Carcinoma +

Thyroid Gland Carcinoma +

Leukemia +

Acute Lymphoblastic Leukemia +

Anal Canal Squamous Cell Carcinoma +

Ependymoma +

Fallopian Tube Endometrioid Adenocarcinoma +

Salivary Duct Carcinoma +

Salivary Gland Adenocarcinoma +

Bladder Urothelial Carcinoma +

Transitional Cell Carcinoma +

Salivary Carcinoma, NOS +

Small Intestinal Carcinoma +

Endometrial Mixed Adenocarcinoma +

Renal Pelvis And Ureter Carcinoma +

Uterine Carcinosarcoma +

Adnexal Carcinoma +

Ovarian Endometrioid Adenocarcinoma +

Ampulla Of Vater Carcinoma +

Malignant Mixed Mesodermal (Mullerian) Tumor +

Malignant Endometrial Neoplasm +

Endometrial Adenocarcinoma +

Malignant Urethral Neoplasm +

Primary Mediastinal B-Cell Lymphoma +

Urethral Carcinoma +

Gastric Diffuse Adenocarcinoma +

Malignant Ovarian Endometrioid Tumor +

Ovarian Endometrioid Tumor +

Anal Carcinoma +

Anal Squamous Cell Carcinoma +

Digestive System Carcinoma +

Malignant Colorectal Neoplasm +

Rhabdoid Tumor +

Basal Cell Carcinoma +

Biliary Tract Neoplasm +

Malignant Digestive System Neoplasm +

Laryngeal Carcinoma +

Malignant Laryngeal Neoplasm +

Salivary Gland Acinic Cell Carcinoma +

Malignant Hepatobiliary Neoplasm +

Hepatobiliary Neoplasm +

Epithelioid Sarcoma +

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +

Neuroblastoma +

Primitive Neuroectodermal Tumor +

Leiomyosarcoma +

Pancreatic Neuroendocrine Neoplasm +

Lip And Oral Cavity Carcinoma +

Ovarian Epithelial Tumor +

Malignant Ovarian Neoplasm +

WHO Grade III Glioma +

Myxofibrosarcoma +

Anaplastic Astrocytoma +

Nasal Cavity And Paranasal Sinus Carcinoma +

Glioma +

Pecoma +

Sarcomatoid Carcinoma +

Astrocytoma +

Primary Cutaneous T Cell Non-Hodgkin Lymphoma +

Rhabdomyosarcoma +

B-Cell Neoplasm +

Low Grade Glioma +

Hematologic And Lymphocytic Disorder +

Undifferentiated Pleomorphic Sarcoma +

Synovial Sarcoma +

Malignant Thyroid Gland Neoplasm +

Osteosarcoma +

Papillary Renal Cell Carcinoma +

Hematopoietic And Lymphoid System Neoplasm +

Well-Differentiated Thyroid Gland Carcinoma +

Ewing Sarcoma +

Germ Cell Tumor +

Myeloid Neoplasm +

Malignant Bone Marrow Neoplasm +

T-Cell And NK-Cell Neoplasm +

Aggressive Systemic Mastocytosis +

Benign Breast Neoplasm +

Bilateral Breast Carcinoma +

Bronchogenic Carcinoma +

Cervical Carcinosarcoma +

Chondrosarcoma +

Chordoma +

Desmoid-Type Fibromatosis +

Diffuse Intrinsic Pontine Glioma +

Diffuse Midline Glioma, H3 K27M-Mutant +

Esophageal Adenosquamous Carcinoma +

Fallopian Tube Clear Cell Adenocarcinoma +

Gastric Adenosquamous Carcinoma +

Gastric Squamous Cell Carcinoma +

Gliosarcoma +

Histiocytic And Dendritic Cell Neoplasm +

Hypopharyngeal Carcinoma +

Kaposi Sarcoma +

Mast Cell Leukemia +

Medullary Breast Carcinoma +

Metastatic Malignant Neoplasm In The Brain +

NUT Midline Carcinoma Of The Head And Neck +

Penile Carcinoma +

Primary Peritoneal Carcinosarcoma +

Prostate Undifferentiated Carcinoma +

Salivary Gland Carcinoma Ex Pleomorphic Adenoma +

Salivary Gland Mucoepidermoid Carcinoma +

Salivary Gland Small Cell Carcinoma +

Salivary Gland Squamous Cell Carcinoma +

Squamous Cell Carcinoma Of The Penis +

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

Tenosynovial Giant Cell Tumor +

Tenosynovial Giant Cell Tumor, Diffuse Type +

Thyroid Gland Follicular Carcinoma +

Ureter Carcinoma +

Ureter Urothelial Carcinoma +

Uveal Melanoma +

Vulvar 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. 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.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.