Overview

Gene Location [1]
17q12
Pathway
Receptor tyrosine kinase/growth factor signaling
Variant Type
Loss
Gene
ERBB2

ERBB2 Loss is present in 0.02% of AACR GENIE cases, with ovarian neoplasm, breast carcinoma, sarcoma, head and neck cancer, and large cell neuroendocrine carcinoma having the greatest prevalence [4].

Top Disease Cases with ERBB2 Loss

Biomarker-Directed Therapies

Significance of ERBB2 Loss in Diseases

Breast Carcinoma +

Malignant Solid Tumor +

Non-Small Cell Lung Carcinoma +

Ovarian Carcinoma +

Colorectal Carcinoma +

Gastric Carcinoma +

Melanoma +

Head And Neck Squamous Cell Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Pancreatic Carcinoma +

Renal Cell Carcinoma +

Fallopian Tube Carcinoma +

Urothelial Carcinoma +

Small Cell Lung Carcinoma +

Gastric Adenocarcinoma +

Primary Peritoneal Carcinoma +

Prostate Carcinoma +

Esophageal Carcinoma +

Bladder Carcinoma +

Breast Adenocarcinoma +

Endometrial Carcinoma +

Hepatocellular Carcinoma +

Cervical Carcinoma +

Head And Neck Carcinoma +

Lymphoma +

Pancreatic Adenocarcinoma +

Soft Tissue Sarcoma +

Glioblastoma +

Pancreatic Ductal Adenocarcinoma +

Sarcoma +

Breast Invasive Ductal Carcinoma +

Peritoneal Mesothelioma +

Squamous Cell Lung Carcinoma +

Cancer +

Colorectal Adenocarcinoma +

Ductal Carcinoma In Situ +

Mesothelioma +

Nasopharyngeal Carcinoma +

Peritoneal Carcinoma +

Acute Myeloid Leukemia +

Cholangiocarcinoma +

Diffuse Large B-Cell Lymphoma +

Esophagogastric Carcinoma +

Malignant Ovarian Epithelial Tumor +

Merkel Cell Carcinoma +

Non-Hodgkin Lymphoma +

Pleural Mesothelioma +

Chronic Lymphocytic Leukemia +

Colon Carcinoma +

Endometrial Adenocarcinoma +

Esophageal Squamous Cell Carcinoma +

Gastrointestinal Stromal Tumor +

Inflammatory Breast Carcinoma +

Lobular Breast Carcinoma +

Multiple Myeloma +

Myelodysplastic Syndromes +

Prostate Adenocarcinoma +

Ureter Urothelial Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Neuroendocrine Carcinoma +

Acute Lymphoblastic Leukemia +

Adenoid Cystic Carcinoma +

Anaplastic Astrocytoma +

B-Cell Neoplasm +

Bladder Urothelial Carcinoma +

Breast Lobular Carcinoma In Situ +

Cervical Squamous Cell Carcinoma +

Classical Hodgkin Lymphoma +

Clear Cell Renal Cell Carcinoma +

Diffuse Gastric Adenocarcinoma +

Esophageal Adenocarcinoma +

Ewing Sarcoma +

Extrahepatic Cholangiocarcinoma +

Fallopian Tube Clear Cell Adenocarcinoma +

Fallopian Tube Endometrioid Adenocarcinoma +

Gallbladder Carcinoma +

Germ Cell Tumor +

Hematopoietic And Lymphoid Malignancy +

High Grade Fallopian Tube Serous Adenocarcinoma +

Infiltrating Renal Pelvis And Ureter Urothelial Carcinoma +

Intrahepatic Cholangiocarcinoma +

Leiomyosarcoma +

Lung Adenocarcinoma +

Lung Carcinoma +

Malignant Ovarian Clear Cell Tumor +

Malignant Pleural Mesothelioma +

Malignant Thyroid Gland Neoplasm +

Mantle Cell Lymphoma +

NUT Midline Carcinoma Of The Head And Neck +

Ovarian Endometrioid Tumor +

Ovarian Epithelial Tumor +

Pancreatic Neuroendocrine Neoplasm +

Papillary Renal Cell Carcinoma +

Primary Peritoneal Serous Adenocarcinoma +

Renal Carcinoma +

Renal Pelvis Urothelial Carcinoma +

Renal Pelvis And Ureter Carcinoma +

Rhabdomyosarcoma +

Small Intestinal Adenocarcinoma +

T-Cell And NK-Cell Neoplasm +

Thymic Carcinoma +

Thymoma +

Thyroid Gland Carcinoma +

Thyroid Gland Follicular Carcinoma +

Urethral Carcinoma +

Uterine Corpus Carcinosarcoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.