Overview

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

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 1.37% of all cancers with non-small cell lung carcinoma, colorectal adenocarcinoma, breast carcinoma, melanoma, and malignant glioma having the greatest prevalence of alterations [3].

PMS1 GENIE Cases - Top Diseases

The most common alterations in PMS1 are PMS1 Mutation (1.23%), PMS1 Mutation (germline) (1.23%), PMS1 Amplification (0.05%), PMS1 R630* (0.02%), and PMS1 Loss (0.02%) [3].

PMS1 GENIE Cases - Top Alterations

Significance of PMS1 in Diseases

Malignant Solid Tumor +

Colorectal Carcinoma +

Gastric Carcinoma +

Endometrial Carcinoma +

Small Cell Lung Carcinoma +

Melanoma +

Non-Small Cell Lung Carcinoma +

Breast Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Head And Neck Squamous Cell Carcinoma +

Renal Cell Carcinoma +

Ovarian Carcinoma +

Bladder Carcinoma +

Urothelial Carcinoma +

Glioma +

Hepatocellular Carcinoma +

Fallopian Tube Carcinoma +

Endometrial Undifferentiated Carcinoma +

Skin Carcinoma +

Cervical Carcinoma +

Endometrial Adenocarcinoma +

Squamous Cell Lung Carcinoma +

Lung Adenocarcinoma +

Esophageal Carcinoma +

Gastric Adenocarcinoma +

Prostate Carcinoma +

Pancreatic Adenocarcinoma +

Endometrial Serous Adenocarcinoma +

Cancer +

Malignant Brain Neoplasm +

Non-Hodgkin Lymphoma +

Pancreatic Ductal Adenocarcinoma +

Peritoneal Carcinoma +

Primary Peritoneal Carcinoma +

Ureter Urothelial Carcinoma +

Uterine Corpus Carcinosarcoma +

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.