Overview

Variant Type
Deficient Expression

Biomarker-Directed Therapies

Significance of HER2 Deficient Expression in Diseases

Breast Carcinoma +

Breast Invasive Lobular Carcinoma +

Malignant Solid Tumor +

Non-Small Cell Lung Carcinoma +

Ovarian Carcinoma +

Invasive Breast Carcinoma +

Colorectal Carcinoma +

Gastric Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Breast Adenocarcinoma +

Melanoma +

Gastric Adenocarcinoma +

Fallopian Tube Carcinoma +

Urothelial Carcinoma +

Renal Cell Carcinoma +

Primary Peritoneal Carcinoma +

Small Cell Lung Carcinoma +

Endometrial Carcinoma +

Pancreatic Carcinoma +

Prostate Carcinoma +

Esophageal Carcinoma +

Cervical Carcinoma +

Hepatocellular Carcinoma +

Bladder Carcinoma +

Pancreatic Adenocarcinoma +

Lymphoma +

Soft Tissue Sarcoma +

Esophageal Adenocarcinoma +

Head And Neck Carcinoma +

Squamous Cell Lung Carcinoma +

Pancreatic Ductal Adenocarcinoma +

Breast Invasive Ductal Carcinoma +

Glioblastoma +

Mesothelioma +

Prostate Adenocarcinoma +

Colorectal Adenocarcinoma +

Ductal Carcinoma In Situ +

High Grade Ovarian Serous Adenocarcinoma +

Merkel Cell Carcinoma +

Inflammatory Breast Carcinoma +

Sarcoma +

Cholangiocarcinoma +

Clear Cell Renal Cell Carcinoma +

Esophageal Squamous Cell Carcinoma +

Esophagogastric Carcinoma +

Nasopharyngeal Carcinoma +

Non-Hodgkin Lymphoma +

Skin Squamous Cell Carcinoma +

Acute Myeloid Leukemia +

Cancer +

Malignant Ovarian Epithelial Tumor +

Peritoneal Mesothelioma +

Biliary Tract Carcinoma +

Chronic Lymphocytic Leukemia +

Cutaneous Melanoma +

Diffuse Large B-Cell Lymphoma +

Lung Adenocarcinoma +

Multiple Myeloma +

Non-Squamous Non-Small Cell Lung Carcinoma +

Adenoid Cystic Carcinoma +

Bilateral Breast Carcinoma +

Breast Lobular Carcinoma In Situ +

Carcinoma +

Colon Carcinoma +

Gallbladder Carcinoma +

High Grade Fallopian Tube Serous Adenocarcinoma +

Intrahepatic Cholangiocarcinoma +

Malignant Pleural Mesothelioma +

Malignant Uterine Neoplasm +

Mantle Cell Lymphoma +

Oropharyngeal Squamous Cell Carcinoma +

Pleural Mesothelioma +

Thymic Carcinoma +

Acute Lymphoblastic Leukemia +

Anal Canal Squamous Cell Carcinoma +

Anal Carcinoma +

Anaplastic Astrocytoma +

B-Cell Non-Hodgkin Lymphoma +

Cervical Squamous Cell Carcinoma +

Classical Hodgkin Lymphoma +

Endometrial Endometrioid Adenocarcinoma +

Extrahepatic Cholangiocarcinoma +

Fallopian Tube Endometrioid Adenocarcinoma +

Gastrointestinal Stromal Tumor +

Hematopoietic And Lymphoid Malignancy +

Hypopharyngeal Squamous Cell Carcinoma +

Laryngeal Squamous Cell Carcinoma +

Lobular Breast Carcinoma +

Malignant Ovarian Clear Cell Tumor +

Medullary Breast Carcinoma +

Mixed Lobular And Ductal Breast Carcinoma +

Myelodysplastic Syndromes +

Neuroendocrine Carcinoma +

Ovarian Endometrioid Adenocarcinoma +

Primary Peritoneal Serous Adenocarcinoma +

Small Intestinal Adenocarcinoma +

Thymoma +

Thyroid Gland Carcinoma +

Vulvar Carcinoma +

Adnexal Carcinoma +

Anal Squamous Cell Carcinoma +

Appendix Adenocarcinoma +

B-Cell Lymphoma, Unclassifiable, With Features Intermediate Between Diffuse Large B-Cell Lymphoma And Classical Hodgkin Lymphoma +

B-Cell Neoplasm +

Basal Cell Carcinoma +

Benign Breast Neoplasm +

Bladder Urothelial Carcinoma +

Central Nervous System Neoplasm +

Cervical Carcinosarcoma +

Chordoma +

Double-Hit Lymphoma +

Endometrial Adenocarcinoma +

Endometrial Mixed Adenocarcinoma +

Endometrial Serous Adenocarcinoma +

Epithelioid Sarcoma +

Fallopian Tube Clear Cell Adenocarcinoma +

Follicular Lymphoma +

Gastric Diffuse Adenocarcinoma +

Germ Cell Tumor +

Hypopharyngeal Carcinoma +

Invasive Papillary Breast Carcinoma +

Kaposi Sarcoma +

Kidney Carcinoma +

Laryngeal Carcinoma +

Leiomyosarcoma +

Leukemia +

Liposarcoma +

Malignant Colorectal Neoplasm +

Malignant Digestive System Neoplasm +

Malignant Endometrial Neoplasm +

Malignant Exocrine Pancreatic Neoplasm +

Malignant Mixed Mesodermal (Mullerian) Tumor +

Malignant Ovarian Endometrioid Tumor +

Malignant Ovarian Neoplasm +

Malignant Thyroid Gland Neoplasm +

Malignant Urethral Neoplasm +

Malignant Uterine Corpus Neoplasm +

Mucinous Breast Carcinoma +

Myxofibrosarcoma +

NUT Midline Carcinoma Of The Head And Neck +

Non-Clear Cell Renal Cell Carcinoma +

Oral Cavity Carcinoma +

Oral Cavity Squamous Cell Carcinoma +

Oropharyngeal Carcinoma +

Osteosarcoma +

Ovarian Carcinosarcoma +

Ovarian Endometrioid Tumor +

Ovarian Epithelial Tumor +

Pancreatic Neuroendocrine Neoplasm +

Papillary Renal Cell Carcinoma +

Penile Carcinoma +

Peripheral T-Cell Lymphoma, Not Otherwise Specified +

Peritoneal Malignant Mesothelioma +

Pleural Biphasic Mesothelioma +

Pleural Epithelioid Mesothelioma +

Pleural Mesothelioma, Sarcomatoid Type +

Primary Peritoneal Carcinosarcoma +

Prostate Undifferentiated Carcinoma +

Pseudomyxoma Peritonei +

Renal Pelvis And Ureter Carcinoma +

Rhabdoid Tumor +

Salivary Gland Carcinoma +

Sarcomatoid Carcinoma +

Squamous Cell Carcinoma +

Squamous Cell Carcinoma Of The Penis +

Synovial Sarcoma +

T-Cell And NK-Cell Neoplasm +

Tenosynovial Giant Cell Tumor +

Tenosynovial Giant Cell Tumor, Diffuse Type +

Thyroid Gland Follicular Carcinoma +

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +

Transformed Non-Hodgkin Lymphoma +

Transitional Cell Carcinoma +

Tubular Breast Carcinoma +

Ureter Urothelial Carcinoma +

Urethral Carcinoma +

Uterine Corpus Carcinosarcoma +

Uveal Melanoma +

Vaginal Carcinoma +

Well-Differentiated Thyroid Gland 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 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.