Overview

Location [1]
2q32.2
Protein [2]
PMS1 protein homolog 1
Synonyms [1]
HNPCC3, MLH2, hPMS1, PMSL1

PMS1 postmeiotic segregation increased 1 (PMS1) is a gene that encodes a protein that functions in DNA mismatch repair. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

PMS1 is altered in 1.34% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, endometrial endometrioid adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

PMS1 GENIE Cases - Top Diseases

The most common alterations in PMS1 are PMS1 Mutation (1.14%), PMS1 Amplification (0.06%), PMS1 Loss (0.03%), PMS1 R630* (0.03%), and PMS1 R277* (0.02%) [3].

PMS1 GENIE Cases - Top Alterations

Significance of PMS1 in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Ovarian Carcinoma +

Breast Carcinoma +

Cervical Carcinoma +

Colorectal Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Non-Small Cell Lung Carcinoma +

Primary Peritoneal Carcinoma +

Endometrial Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Non-Hodgkin Lymphoma +

Soft Tissue Sarcoma +

Pancreatic Carcinoma +

Fallopian Tube Carcinoma +

Penile Carcinoma +

Prostate Small Cell Carcinoma +

Mantle Cell Lymphoma +

Small Cell Lung Carcinoma +

Melanoma +

Bladder Carcinoma +

Bladder Urothelial Carcinoma +

Malignant Uterine Neoplasm +

Anal Carcinoma +

Urothelial Carcinoma +

Esophageal Squamous Cell Carcinoma +

Lung Carcinoma +

Esophageal Carcinoma +

Malignant Esophagogastric Neoplasm +

Gallbladder Carcinoma +

Malignant Intestinal Neoplasm +

Head And Neck Carcinoma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

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

Malignant Small Intestinal Neoplasm +

Malignant Ovarian Epithelial Tumor +

Diffuse Large B-Cell Lymphoma +

High Grade Ovarian Serous Adenocarcinoma +

Bile Duct Carcinoma +

Cholangiocarcinoma +

Gastrointestinal Stromal Tumor +

Pancreatic Adenocarcinoma +

Ampulla Of Vater Carcinoma +

Bronchogenic Carcinoma +

Vaginal Carcinoma +

Vulvar 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.