Associated Genetic Biomarkers
Associated Diseases

Overview

Gene Location [1]
7p22.1
Variant Type
Loss
Gene
PMS2

PMS2 Loss is present in 0.02% of AACR GENIE cases.

Biomarker-Directed Therapies

Significance of PMS2 Loss in Diseases

Malignant Solid Tumor +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Melanoma +

Head And Neck Squamous Cell Carcinoma +

Urothelial Carcinoma +

Renal Cell Carcinoma +

Breast Carcinoma +

Endometrial Carcinoma +

Gastric Carcinoma +

Cervical Carcinoma +

Hepatocellular Carcinoma +

Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Merkel Cell Carcinoma +

Ovarian Carcinoma +

Prostate Carcinoma +

Gastric Adenocarcinoma +

Prostate Adenocarcinoma +

Bladder Carcinoma +

Mesothelioma +

Esophageal Carcinoma +

Pancreatic Carcinoma +

Skin Squamous Cell Carcinoma +

Fallopian Tube Carcinoma +

Head And Neck Carcinoma +

Primary Peritoneal Carcinoma +

Colorectal Adenocarcinoma +

Cholangiocarcinoma +

Anal Carcinoma +

Basal Cell Carcinoma +

Classical Hodgkin Lymphoma +

Cancer +

Biliary Tract Carcinoma +

Diffuse Large B-Cell Lymphoma +

Endometrial Clear Cell Adenocarcinoma +

Endometrial Serous Adenocarcinoma +

Esophagogastric Carcinoma +

Hodgkin Lymphoma +

Nasopharyngeal Carcinoma +

Non-Hodgkin Lymphoma +

Pancreatic Adenocarcinoma +

Rectal Adenocarcinoma +

Salivary Gland Carcinoma +

Soft Tissue Sarcoma +

Thyroid Gland Carcinoma +

Adnexal Carcinoma +

Anal Canal Squamous Cell Carcinoma +

Anal Squamous Cell Carcinoma +

Bladder Urothelial Carcinoma +

Carcinosarcoma +

Central Nervous System Neoplasm +

Cervical Squamous Cell Carcinoma +

Clear Cell Renal Cell Carcinoma +

Colon Adenocarcinoma +

Colon Carcinoma +

Cutaneous Melanoma +

Endometrial Adenocarcinoma +

Endometrial Endometrioid Adenocarcinoma +

Endometrial Undifferentiated Carcinoma +

Esophageal Squamous Cell Carcinoma +

Gallbladder Carcinoma +

Glioma +

High Grade Ovarian Serous Adenocarcinoma +

Laryngeal Squamous Cell Carcinoma +

Lynch Syndrome +

Malignant Ovarian Epithelial Tumor +

Malignant Uterine Neoplasm +

Neuroendocrine Carcinoma +

Oral Cavity Squamous Cell Carcinoma +

Ovarian Clear Cell Tumor +

Pancreatic Ductal Adenocarcinoma +

Sarcoma +

Squamous Cell Carcinoma +

Squamous Cell Carcinoma Of The Penis +

Thymic Carcinoma +

Vulvar Carcinoma +

Carcinoma +

Acute Myeloid Leukemia +

Adenocarcinoma +

Ampulla Of Vater Carcinoma +

Ampulla Of Vater Clear Cell Adenocarcinoma +

Appendix Carcinoma +

Appendix Neuroendocrine Tumor +

B-Cell Non-Hodgkin Lymphoma +

Bile Duct Carcinoma +

Bladder Clear Cell Adenocarcinoma +

Bone Sarcoma +

Bronchogenic Carcinoma +

Carcinoma Of Unknown Primary Origin +

Cervical Clear Cell Adenocarcinoma +

Chondrosarcoma +

Clear Cell Adenocarcinoma +

Clear Cell Hepatocellular Carcinoma +

Clear Cell Odontogenic Carcinoma +

Clear Cell Sarcoma Of Soft Tissue +

Clear Cell Sarcoma Of The Kidney +

Clear Cell Squamous Cell Skin Carcinoma +

Colorectal Neuroendocrine Tumor +

Constitutional Mismatch Repair Deficiency Syndrome +

Desmoid-Type Fibromatosis +

Endometrial Mixed Adenocarcinoma +

Endometrioid Adenocarcinoma +

Esophageal Adenocarcinoma +

Ewing Sarcoma +

Extrahepatic Bile Duct Clear Cell Adenocarcinoma +

Fallopian Tube Clear Cell Adenocarcinoma +

Gallbladder Adenocarcinoma +

Gastrointestinal Stromal Tumor +

Hereditary Clear Cell Renal Cell Carcinoma +

High Grade Fallopian Tube Serous Adenocarcinoma +

High-Grade Endometrial Stromal Sarcoma +

Histiocytic And Dendritic Cell Neoplasm +

Hypopharyngeal Squamous Cell Carcinoma +

Intrahepatic Cholangiocarcinoma +

Kidney Carcinoma +

Large Cell Lung Carcinoma, Clear Cell Variant +

Leiomyosarcoma +

Liposarcoma +

Lung Carcinoma +

Lung Neuroendocrine Neoplasm +

Lymphoma +

Malignant Esophagogastric Neoplasm +

Malignant Gastric Neoplasm +

Malignant Intestinal Neoplasm +

Malignant Ovarian Clear Cell Tumor +

Malignant Pleural Mesothelioma +

Malignant Salivary Gland Neoplasm +

Malignant Small Intestinal Neoplasm +

Mantle Cell Lymphoma +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Mediastinal Large B-Cell Lymphoma +

Mucosal Melanoma +

Non-Clear Cell Renal Cell Carcinoma +

Non-Squamous Non-Small Cell Lung Carcinoma +

Ocular Melanoma +

Oropharyngeal Squamous Cell Carcinoma +

Osteosarcoma +

Ovarian Endometrioid Adenocarcinofibroma +

Ovarian Endometrioid Adenocarcinoma +

Ovarian Endometrioid Tumor +

Pecoma +

Pancreatic Neuroendocrine Tumor +

Penile Carcinoma +

Peritoneal Mesothelioma +

Pharyngeal Squamous Cell Carcinoma +

Pleural Mesothelioma +

Primary Cutaneous T Cell Non-Hodgkin Lymphoma +

Primary Mediastinal B-Cell Lymphoma +

Primary Peritoneal Serous Adenocarcinoma +

Skin Basosquamous Cell Carcinoma +

Skin Carcinoma +

Skin Clear Cell Basal Cell Carcinoma +

Small Intestinal Neuroendocrine Tumor +

Squamous Cell Lung Carcinoma +

Thymic Clear Cell Carcinoma +

Thymoma +

Undifferentiated (Embryonal) Sarcoma +

Undifferentiated Pleomorphic Sarcoma +

Ureter Urothelial Carcinoma +

Urethral Clear Cell Adenocarcinoma +

Uterine Corpus Carcinosarcoma +

Uterine Ligament Clear Cell Adenocarcinoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar Clear Cell Hidradenocarcinoma +

Vulvar Squamous Cell Carcinoma +

Xeroderma Pigmentosum +

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 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.