Overview

Location [1]
2q32.2
Synonyms [1]
HNPCC3, hPMS1, PMSL1, MLH2

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.

Significance of PMS1 in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Cervical Carcinoma +

Colorectal Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Non-Small Cell Lung Carcinoma +

Pancreatic Carcinoma +

Primary Peritoneal Carcinoma +

Endometrial Carcinoma +

Fallopian Tube Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Non-Hodgkin Lymphoma +

Soft Tissue Sarcoma +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Bile Duct Carcinoma +

Bladder Carcinoma +

Bladder Urothelial Carcinoma +

Bronchogenic Carcinoma +

Cholangiocarcinoma +

Diffuse Large B-Cell Lymphoma +

Esophageal Carcinoma +

Esophageal Squamous Cell Carcinoma +

Gallbladder Carcinoma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Gastrointestinal Stromal Tumor +

Head And Neck Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Lung Carcinoma +

Malignant Esophagogastric Neoplasm +

Malignant Gastric Neoplasm +

Malignant Intestinal Neoplasm +

Malignant Ovarian Epithelial Tumor +

Malignant Small Intestinal Neoplasm +

Malignant Uterine Neoplasm +

Mantle Cell Lymphoma +

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

Melanoma +

Pancreatic Adenocarcinoma +

Penile Carcinoma +

Prostate Small Cell Carcinoma +

Small Cell Lung Carcinoma +

Urothelial 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.