Associated Genetic Biomarkers
Associated Diseases

Overview

Location [1]
7p22.1
Protein [2]
Mismatch repair endonuclease PMS2
Synonyms [1]
HNPCC4, PMSL2, MLH4, 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 1.38% of all cancers with lung adenocarcinoma, colon adenocarcinoma, bladder urothelial carcinoma, breast invasive ductal carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

PMS2 GENIE Cases - Top Diseases

The most common alterations in PMS2 are PMS2 Mutation (1.29%), PMS2 Mutation (germline) (1.29%), PMS2 Amplification (0.26%), PMS2 K651R (0.03%), and PMS2 Loss (0.03%) [3].

PMS2 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of PMS2 in Diseases

Malignant Solid Tumor +

Colorectal Carcinoma +

Gastric Carcinoma +

Cervical Carcinoma +

Prostate Carcinoma +

Pancreatic Adenocarcinoma +

Endometrial Adenocarcinoma +

Neuroendocrine Carcinoma +

Malignant Esophageal Neoplasm +

Malignant Ovarian Neoplasm +

Non-Small Cell Lung Carcinoma +

Melanoma +

Urothelial Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Renal Cell Carcinoma +

Breast Carcinoma +

Endometrial Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Hepatocellular Carcinoma +

Small Cell Lung Carcinoma +

Ovarian Carcinoma +

Bladder Carcinoma +

Prostate Adenocarcinoma +

Merkel Cell Carcinoma +

Gastric Adenocarcinoma +

Mesothelioma +

Pancreatic Carcinoma +

Esophageal Carcinoma +

Primary Peritoneal Carcinoma +

Skin Squamous Cell Carcinoma +

Fallopian Tube Carcinoma +

Head And Neck Carcinoma +

Colorectal Adenocarcinoma +

Anal Carcinoma +

Cholangiocarcinoma +

Colon Adenocarcinoma +

Glioma +

Non-Hodgkin Lymphoma +

Soft Tissue Sarcoma +

Thyroid Gland Carcinoma +

Biliary Tract Carcinoma +

Classical Hodgkin Lymphoma +

Diffuse Large B-Cell Lymphoma +

Endometrial Clear Cell Adenocarcinoma +

Endometrial Serous Adenocarcinoma +

Hodgkin Lymphoma +

Bladder Urothelial Carcinoma +

Clear Cell Renal Cell Carcinoma +

Malignant Uterine Neoplasm +

Squamous Cell Carcinoma +

Esophagogastric Carcinoma +

Cancer +

Sarcoma +

Malignant Ovarian Epithelial Tumor +

Anal Squamous Cell Carcinoma +

Basal Cell Carcinoma +

Carcinosarcoma +

Cervical Squamous Cell Carcinoma +

Endometrial Undifferentiated Carcinoma +

Esophageal Squamous Cell Carcinoma +

Gallbladder Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Nasopharyngeal Carcinoma +

Ovarian Clear Cell Tumor +

Pancreatic Ductal Adenocarcinoma +

Salivary Gland Carcinoma +

Skin Carcinoma +

Malignant Small Intestinal Neoplasm +

Endometrial Endometrioid Adenocarcinoma +

Endometrioid Adenocarcinoma +

Oral Cavity Squamous Cell Carcinoma +

Malignant Esophagogastric Neoplasm +

Colon Carcinoma +

Malignant Intestinal Neoplasm +

Malignant Gastric Neoplasm +

Kidney Carcinoma +

Lung Carcinoma +

Esophageal Adenocarcinoma +

Leiomyosarcoma +

Rectal Adenocarcinoma +

Adnexal Carcinoma +

Ampulla Of Vater Carcinoma +

Ampulla Of Vater Clear Cell Adenocarcinoma +

Anal Canal Squamous Cell Carcinoma +

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 +

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 +

Endometrial Mixed Adenocarcinoma +

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 +

Large Cell Lung Carcinoma, Clear Cell Variant +

Laryngeal Squamous Cell Carcinoma +

Lung Neuroendocrine Neoplasm +

Lynch Syndrome +

Malignant Brain Neoplasm +

Malignant Ovarian Clear Cell Tumor +

Malignant Pleural Mesothelioma +

Malignant Salivary Gland Neoplasm +

Mantle Cell Lymphoma +

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

Mediastinal Large B-Cell Lymphoma +

Non-Clear Cell Renal Cell Carcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Ovarian Endometrioid Adenocarcinofibroma +

Ovarian Endometrioid Adenocarcinoma +

Ovarian Endometrioid Tumor +

Pancreatic Neuroendocrine Tumor +

Penile Carcinoma +

Peritoneal Mesothelioma +

Pleural Mesothelioma +

Primary Peritoneal Serous Adenocarcinoma +

Skin Clear Cell Basal Cell Carcinoma +

Small Intestinal Neuroendocrine Tumor +

Squamous Cell Carcinoma Of The Penis +

Thymic Carcinoma +

Thymic Clear Cell Carcinoma +

Undifferentiated Sarcoma +

Ureter Urothelial Carcinoma +

Urethral Clear Cell Adenocarcinoma +

Uterine Corpus Carcinosarcoma +

Uterine Ligament Clear Cell Adenocarcinoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

Vulvar Clear Cell Hidradenocarcinoma +

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 6. 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.