Associated Diseases


Variant Type

Biomarker-Directed Therapies

Significance of ER Expression in Diseases

Breast Carcinoma +

Invasive Breast Carcinoma +

Breast Adenocarcinoma +

Malignant Solid Tumor +

Ovarian Carcinoma +

Non-Small Cell Lung Carcinoma +

Endometrial Carcinoma +

Ductal Carcinoma In Situ +

Fallopian Tube Carcinoma +

Primary Peritoneal Carcinoma +

Colorectal Carcinoma +

Prostate Carcinoma +

Breast Invasive Ductal Carcinoma +

Small Cell Lung Carcinoma +

Urothelial Carcinoma +

Breast Invasive Lobular Carcinoma +

Cervical Carcinoma +

Melanoma +

Non-Hodgkin Lymphoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Endometrial Endometrioid Adenocarcinoma +

Endometrial Mixed Adenocarcinoma +

Prostate Adenocarcinoma +

Bilateral Breast Carcinoma +

Biliary Tract Carcinoma +

Cancer +

Endometrial Clear Cell Adenocarcinoma +

Endometrial Serous Adenocarcinoma +

Endometrial Undifferentiated Carcinoma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Glioblastoma +

Head And Neck Squamous Cell Carcinoma +

Hepatocellular Carcinoma +

Lung Adenocarcinoma +

Malignant Ovarian Serous Tumor +

Medullary Breast Carcinoma +

Mixed Lobular And Ductal Breast Carcinoma +

Pancreatic Adenocarcinoma +

Adenoid Cystic Carcinoma +

Anaplastic Astrocytoma +

Bladder Carcinoma +

Breast Lobular Carcinoma In Situ +

Carcinoma +

Clear Cell Renal Cell Carcinoma +

Colon Carcinoma +

Desmoid-Type Fibromatosis +

Endometrial Adenocarcinoma +

Endometrial Dedifferentiated Carcinoma +

Endometrial Mucinous Adenocarcinoma +

Endometrial Squamous Cell Carcinoma +

Endometrial Transitional Cell Carcinoma +

Endometrioid Adenocarcinoma +

Esophageal Adenocarcinoma +

Esophageal Carcinoma +

Esophageal Squamous Cell Carcinoma +

Fallopian Tube Endometrioid Adenocarcinoma +

Fallopian Tube Serous Adenocarcinoma +

Gastric Diffuse Adenocarcinoma +

Gastrointestinal Neuroendocrine Tumors +

Hypopharyngeal Carcinoma +

Inflammatory Breast Carcinoma +

Invasive Papillary Breast Carcinoma +

Laryngeal Carcinoma +

Liposarcoma +

Lobular Breast Carcinoma +

Lung Carcinoma +

Lung Neuroendocrine Neoplasm +

Lymphoma +

Malignant Uterine Neoplasm +

Mucinous Breast Carcinoma +

Neuroendocrine Tumor +

Non-Clear Cell Renal Cell Carcinoma +

Non-Squamous Non-Small Cell Lung Carcinoma +

Oral Cavity Carcinoma +

Oropharyngeal Carcinoma +

Ovarian Endometrioid Adenocarcinoma +

Ovarian Endometrioid Tumor +

Ovarian Epithelial Tumor +

Pancreatic Carcinoma +

Pancreatic Neuroendocrine Carcinoma +

Pancreatic Neuroendocrine Neoplasm +

Pancreatic Neuroendocrine Tumor +

Peritoneal Mesothelioma +

Primary Peritoneal Endometrioid Adenocarcinoma +

Primary Peritoneal Serous Adenocarcinoma +

Prostate Undifferentiated Carcinoma +

Renal Cell Carcinoma +

Sarcoma +

Squamous Cell Lung Carcinoma +

Transitional Cell Carcinoma +

Tubular Breast Carcinoma +

Ureter Carcinoma +

Uterine Sarcoma +

Vaginal Carcinoma +

Vulvar Carcinoma +


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.