Associated Genetic Biomarkers
Associated Diseases

Overview

Location [1]
7p22.1
Protein [2]
Mismatch repair endonuclease PMS2
Synonyms [1]
MLH4, MMRCS4, PMSL2, HNPCC4, PMS2CL

PMS2 postmeiotic segregation increased 2 (PMS2) is a gene that encodes a protein that functions in DNA mismatch repair. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

PMS2 is altered in 1.56% of all cancers with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and cutaneous melanoma having the greatest prevalence of alterations [3].

PMS2 GENIE Cases - Top Diseases

The most common alterations in PMS2 are PMS2 Mutation (1.12%), PMS2 Amplification (0.28%), PMS2 Loss (0.03%), PMS2 S46I (0.07%), and PMS2 K651R (0.10%) [3].

PMS2 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of PMS2 in Diseases

Malignant Solid Tumor +

Colorectal Carcinoma +

Endometrial Carcinoma +

Endometrial Adenocarcinoma +

Non-Small Cell Lung Carcinoma +

Melanoma +

Head And Neck Squamous Cell Carcinoma +

Urothelial Carcinoma +

Breast Carcinoma +

Renal Cell Carcinoma +

Gastric Carcinoma +

Cervical Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Hepatocellular Carcinoma +

Small Cell Lung Carcinoma +

Ovarian Carcinoma +

Merkel Cell Carcinoma +

Prostate Adenocarcinoma +

Gastric Adenocarcinoma +

Bladder Carcinoma +

Prostate Carcinoma +

Esophageal Carcinoma +

Mesothelioma +

Skin Squamous Cell Carcinoma +

Pancreatic Carcinoma +

Colorectal Adenocarcinoma +

Head And Neck Carcinoma +

Fallopian Tube Carcinoma +

Primary Peritoneal Carcinoma +

Esophageal Squamous Cell Carcinoma +

Anal Carcinoma +

Cholangiocarcinoma +

Classical Hodgkin Lymphoma +

Basal Cell Carcinoma +

Soft Tissue Sarcoma +

Pancreatic Ductal Adenocarcinoma +

Cutaneous Melanoma +

Squamous Cell Carcinoma +

Malignant Uterine Neoplasm +

Esophagogastric Carcinoma +

Colon Adenocarcinoma +

Colon Carcinoma +

Rectal Adenocarcinoma +

Endometrial Serous Adenocarcinoma +

Diffuse Large B-Cell Lymphoma +

Thyroid Gland Carcinoma +

Pancreatic Adenocarcinoma +

Biliary Tract Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Salivary Gland Carcinoma +

Hodgkin Lymphoma +

Nasopharyngeal Carcinoma +

Vulvar Carcinoma +

Endometrial Undifferentiated Carcinoma +

Endometrial Endometrioid Adenocarcinoma +

Bladder Urothelial Carcinoma +

Ovarian Endometrioid Adenocarcinoma +

Adnexal Carcinoma +

Thymic Carcinoma +

Glioma +

Anal Squamous Cell Carcinoma +

Lung Adenocarcinoma +

Central Nervous System Neoplasm +

Endometrial Clear Cell Adenocarcinoma +

Neuroendocrine Carcinoma +

Cancer +

Gallbladder Carcinoma +

Sarcoma +

Malignant Ovarian Epithelial Tumor +

Non-Hodgkin Lymphoma +

Non-Clear Cell Renal Cell Carcinoma +

Lymphoma +

Intrahepatic Cholangiocarcinoma +

Anal Canal Squamous Cell Carcinoma +

Cervical Squamous Cell Carcinoma +

High Grade Fallopian Tube Serous Adenocarcinoma +

Squamous Cell Carcinoma Of The Penis +

Vaginal Carcinoma +

Skin Carcinoma +

Endometrial Mixed Adenocarcinoma +

Endometrioid Adenocarcinoma +

Mucosal Melanoma +

Acral Lentiginous Melanoma +

Desmoid-Type Fibromatosis +

Ocular Melanoma +

Malignant Uterine Corpus Neoplasm +

Malignant Small Intestinal Neoplasm +

Medulloblastoma +

Oropharyngeal Squamous Cell Carcinoma +

Squamous Cell Lung Carcinoma +

Undifferentiated Pleomorphic Sarcoma +

Malignant Gastric Neoplasm +

Ovarian Clear Cell Tumor +

Osteosarcoma +

Malignant Esophagogastric Neoplasm +

Malignant Brain Neoplasm +

Gallbladder Adenocarcinoma +

Malignant Glioma +

Glioblastoma +

Laryngeal Squamous Cell Carcinoma +

Oral Cavity Squamous Cell Carcinoma +

Carcinoma Of Unknown Primary +

Malignant Intestinal Neoplasm +

Lung Carcinoma +

Clear Cell Renal Cell Carcinoma +

Ovarian Endometrioid Tumor +

Non-Squamous Non-Small Cell Lung Carcinoma +

Bone Sarcoma +

Carcinoma +

Small Intestinal Adenocarcinoma +

Adenocarcinoma +

Liposarcoma +

Appendix Carcinoma +

Leiomyosarcoma +

Extrahepatic Cholangiocarcinoma +

Lung Neuroendocrine Neoplasm +

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

Gastrointestinal Stromal Tumor +

Mantle Cell Lymphoma +

Malignant Pleural Mesothelioma +

Multiple Myeloma +

Bile Duct Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Pleural Mesothelioma +

Malignant Salivary Gland Neoplasm +

Carcinosarcoma +

Acute Myeloid Leukemia +

Ampulla Of Vater Carcinoma +

Appendix Neuroendocrine Tumor +

Bronchogenic Carcinoma +

Chondrosarcoma +

Colon Neuroendocrine Neoplasm +

Ependymoma +

Ewing Sarcoma +

Fallopian Tube Clear Cell Adenocarcinoma +

Fallopian Tube Endometrioid Adenocarcinoma +

High-Grade Endometrial Stromal Sarcoma +

Hypopharyngeal Squamous Cell Carcinoma +

Lynch Syndrome +

Mediastinal Large B-Cell Lymphoma +

Ovarian Clear Cell Adenocarcinoma +

Ovarian Endometrioid Adenocarcinofibroma +

Pecoma +

Pancreatic Neuroendocrine Tumor +

Penile Carcinoma +

Peritoneal Mesothelioma +

Primary Mediastinal B-Cell Lymphoma +

Primary Peritoneal Clear Cell Carcinoma +

Primary Peritoneal Endometrioid Adenocarcinoma +

Primary Peritoneal High Grade Serous Adenocarcinoma +

Primary Peritoneal Serous Adenocarcinoma +

Rectal Neuroendocrine Tumor +

Small Intestinal Neuroendocrine Tumor +

Thymoma +

Undifferentiated (Embryonal) Sarcoma +

Ureter Urothelial Carcinoma +

Uterine Corpus Carcinosarcoma +

Vulvar Squamous Cell 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.