Associated Genetic Biomarkers
Associated Diseases

Overview

Location [1]
7p22.1
Protein [2]
Mismatch repair endonuclease PMS2
Synonyms [1]
HNPCC4, MLH4, PMSL2, 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 Amplification (0.26%), PMS2 K651R (0.03%), PMS2 Loss (0.03%), and PMS2 F80F (0.02%) [3].

PMS2 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of PMS2 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 +

Prostate Adenocarcinoma +

Bladder Carcinoma +

Gastric Adenocarcinoma +

Mesothelioma +

Esophageal Carcinoma +

Skin Squamous Cell Carcinoma +

Pancreatic Carcinoma +

Fallopian Tube Carcinoma +

Head And Neck Carcinoma +

Primary Peritoneal Carcinoma +

Colorectal Adenocarcinoma +

Cholangiocarcinoma +

Classical Hodgkin Lymphoma +

Anal Carcinoma +

Basal Cell Carcinoma +

Esophagogastric Carcinoma +

Colon Adenocarcinoma +

Cancer +

Rectal Adenocarcinoma +

Non-Hodgkin Lymphoma +

Soft Tissue Sarcoma +

Thyroid Gland Carcinoma +

Pancreatic Adenocarcinoma +

Biliary Tract Carcinoma +

Diffuse Large B-Cell Lymphoma +

Endometrial Clear Cell Adenocarcinoma +

Endometrial Serous Adenocarcinoma +

Hodgkin Lymphoma +

Nasopharyngeal Carcinoma +

Salivary Gland Carcinoma +

Endometrial Endometrioid Adenocarcinoma +

Bladder Urothelial Carcinoma +

Endometrial Adenocarcinoma +

Cutaneous Melanoma +

Clear Cell Renal Cell Carcinoma +

Malignant Uterine Neoplasm +

Squamous Cell Carcinoma +

Oral Cavity Squamous Cell Carcinoma +

Colon Carcinoma +

Glioma +

Neuroendocrine Carcinoma +

Sarcoma +

Malignant Ovarian Epithelial Tumor +

Adnexal Carcinoma +

Anal Canal Squamous Cell Carcinoma +

Anal Squamous Cell Carcinoma +

Carcinosarcoma +

Cervical Squamous Cell Carcinoma +

Endometrial Undifferentiated Carcinoma +

Esophageal Squamous Cell Carcinoma +

Gallbladder Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Laryngeal Squamous Cell Carcinoma +

Lynch Syndrome +

Ovarian Clear Cell Tumor +

Pancreatic Ductal Adenocarcinoma +

Squamous Cell Carcinoma Of The Penis +

Thymic Carcinoma +

Vulvar Carcinoma +

Skin Carcinoma +

Malignant Small Intestinal Neoplasm +

Endometrioid Adenocarcinoma +

Squamous Cell Lung Carcinoma +

Malignant Esophagogastric Neoplasm +

Malignant Intestinal Neoplasm +

Carcinoma +

Adenocarcinoma +

Malignant Gastric Neoplasm +

Kidney Carcinoma +

Lung Carcinoma +

Malignant Glioma +

Esophageal Adenocarcinoma +

Central Nervous System Neoplasm +

Leiomyosarcoma +

Lymphoma +

Acute Myeloid Leukemia +

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 +

Ependymoma +

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 +

Large Cell Lung Carcinoma, Clear Cell Variant +

Liposarcoma +

Lung Neuroendocrine Neoplasm +

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 +

Medulloblastoma +

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 Clear Cell Basal Cell Carcinoma +

Small Intestinal Neuroendocrine Tumor +

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. 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.