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 1.61% of all cancers with non-small cell lung carcinoma, colorectal adenocarcinoma, melanoma, breast carcinoma, and uterine corpus neoplasm 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

Colorectal Carcinoma +

Malignant Solid Tumor +

Gastric Carcinoma +

Cervical Carcinoma +

Prostate Carcinoma +

Endometrial Adenocarcinoma +

Pancreatic Adenocarcinoma +

Neuroendocrine Carcinoma +

Malignant Esophageal Neoplasm +

Malignant Ovarian Neoplasm +

Non-Small Cell Lung Carcinoma +

Melanoma +

Endometrial Carcinoma +

Renal Cell Carcinoma +

Urothelial Carcinoma +

Breast Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Bladder Carcinoma +

Hepatocellular Carcinoma +

Ovarian Carcinoma +

Merkel Cell Carcinoma +

Skin Squamous Cell Carcinoma +

Esophageal Carcinoma +

Head And Neck Carcinoma +

Gastric Adenocarcinoma +

Mesothelioma +

Soft Tissue Sarcoma +

Colorectal Adenocarcinoma +

Glioma +

Fallopian Tube Carcinoma +

Basal Cell Carcinoma +

Endometrial Clear Cell Adenocarcinoma +

Colon Adenocarcinoma +

Endometrial Serous Adenocarcinoma +

Anal Carcinoma +

Non-Hodgkin Lymphoma +

Prostate Adenocarcinoma +

Diffuse Large B-Cell Lymphoma +

Pancreatic Carcinoma +

Hodgkin Lymphoma +

Pancreatic Ductal Adenocarcinoma +

Peritoneal Carcinoma +

Uterine Corpus Carcinosarcoma +

Vulvar Carcinoma +

Endometrial Undifferentiated Carcinoma +

Skin Carcinoma +

Endometrioid Adenocarcinoma +

Esophagogastric Carcinoma +

Bladder Urothelial Carcinoma +

Ovarian Endometrioid Adenocarcinoma +

Ovarian Endometrioid Tumor +

Squamous Cell Lung Carcinoma +

Clear Cell Renal Cell Carcinoma +

Lung Adenocarcinoma +

Esophageal Adenocarcinoma +

B-Cell Non-Hodgkin Lymphoma +

Non-Clear Cell Renal Cell Carcinoma +

Malignant Ovarian Epithelial Tumor +

Malignant Ovarian Clear Cell Tumor +

Ovarian Clear Cell Tumor +

Sarcoma +

Gallbladder Carcinoma +

Cholangiocarcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Salivary Gland Carcinoma +

Adnexal Carcinoma +

Ampulla Of Vater Clear Cell Adenocarcinoma +

Anal Canal Squamous Cell Carcinoma +

Bladder Clear Cell Adenocarcinoma +

Bone Sarcoma +

Cancer +

Carcinoma Of Unknown Primary Origin +

Carcinosarcoma +

Cervical Clear Cell Adenocarcinoma +

Cervical Squamous Cell Carcinoma +

Classical Hodgkin Lymphoma +

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 +

Extrahepatic Bile Duct Clear Cell Adenocarcinoma +

Fallopian Tube Clear Cell Adenocarcinoma +

Hereditary Clear Cell Renal Cell Carcinoma +

Large Cell Lung Carcinoma, Clear Cell Variant +

Lynch Syndrome +

Malignant Brain Neoplasm +

Malignant Salivary Gland Neoplasm +

Ovarian Endometrioid Adenocarcinofibroma +

Penile Carcinoma +

Peritoneal Mesothelioma +

Pleural Mesothelioma +

Primary Peritoneal Carcinoma +

Skin Clear Cell Basal Cell Carcinoma +

Squamous Cell Carcinoma Of The Penis +

Thymic Clear Cell Carcinoma +

Thyroid Gland Carcinoma +

Ureter Urothelial Carcinoma +

Urethral Clear Cell Adenocarcinoma +

Uterine Ligament Clear Cell Adenocarcinoma +

Vaginal Carcinoma +

Vulvar Clear Cell Hidradenocarcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.