Associated Genetic Biomarkers
Associated Diseases

Overview

Location [1]
2q32.2
Protein [2]
PMS1 protein homolog 1
Synonyms [1]
MLH2, HNPCC3, 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 1.16% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, cutaneous melanoma, 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 (1.23%), PMS1 Mutation (germline) (1.23%), PMS1 Amplification (0.05%), PMS1 R630* (0.02%), and PMS1 Loss (0.02%) [3].

PMS1 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of PMS1 in Diseases

Malignant Solid Tumor +

Colorectal Carcinoma +

Gastric Carcinoma +

Cervical Carcinoma +

Prostate Carcinoma +

Pancreatic Adenocarcinoma +

Endometrial Adenocarcinoma +

Neuroendocrine Carcinoma +

Malignant Ovarian Neoplasm +

Malignant Esophageal Neoplasm +

Non-Small Cell Lung Carcinoma +

Melanoma +

Head And Neck Squamous Cell Carcinoma +

Urothelial Carcinoma +

Renal Cell Carcinoma +

Breast Carcinoma +

Endometrial Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Hepatocellular Carcinoma +

Small Cell Lung Carcinoma +

Ovarian Carcinoma +

Prostate Adenocarcinoma +

Merkel Cell Carcinoma +

Bladder Carcinoma +

Gastric Adenocarcinoma +

Mesothelioma +

Pancreatic Carcinoma +

Esophageal Carcinoma +

Primary Peritoneal Carcinoma +

Skin Squamous Cell Carcinoma +

Fallopian Tube Carcinoma +

Head And Neck Carcinoma +

Colorectal Adenocarcinoma +

Anal Carcinoma +

Cholangiocarcinoma +

Glioma +

Biliary Tract Carcinoma +

Diffuse Large B-Cell Lymphoma +

Hodgkin Lymphoma +

Non-Hodgkin Lymphoma +

Thyroid Gland Carcinoma +

Colon Adenocarcinoma +

Bladder Urothelial Carcinoma +

Malignant Uterine Neoplasm +

Squamous Cell Carcinoma +

Malignant Ovarian Epithelial Tumor +

Cancer +

High Grade Ovarian Serous Adenocarcinoma +

Esophagogastric Carcinoma +

Sarcoma +

Anal Squamous Cell Carcinoma +

Basal Cell Carcinoma +

Carcinosarcoma +

Cervical Squamous Cell Carcinoma +

Classical Hodgkin Lymphoma +

Clear Cell Renal Cell Carcinoma +

Endometrial Clear Cell Adenocarcinoma +

Endometrial Serous Adenocarcinoma +

Endometrial Undifferentiated Carcinoma +

Esophageal Squamous Cell Carcinoma +

Gallbladder Carcinoma +

Nasopharyngeal Carcinoma +

Ovarian Clear Cell Tumor +

Pancreatic Ductal Adenocarcinoma +

Salivary Gland Carcinoma +

Soft Tissue Sarcoma +

Skin Carcinoma +

Endometrial Endometrioid Adenocarcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Colon Carcinoma +

Lung Neuroendocrine Neoplasm +

Malignant Intestinal Neoplasm +

Lung Carcinoma +

Rectal Adenocarcinoma +

Malignant Esophagogastric Neoplasm +

Kidney Carcinoma +

Adnexal Carcinoma +

Ampulla Of Vater Carcinoma +

Ampulla Of Vater Clear Cell Adenocarcinoma +

Anal Canal Squamous Cell Carcinoma +

Appendix Carcinoma +

Appendix Neuroendocrine Tumor +

B-Cell Non-Hodgkin Lymphoma +

Bile Duct Carcinoma +

Bladder Clear Cell Adenocarcinoma +

Bronchogenic Carcinoma +

Carcinoma Of Unknown Primary Origin +

Cervical Clear Cell Adenocarcinoma +

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 +

Endometrial Mixed Adenocarcinoma +

Esophageal Adenocarcinoma +

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 +

Laryngeal Squamous Cell Carcinoma +

Leiomyosarcoma +

Lynch Syndrome +

Malignant Brain Neoplasm +

Malignant Gastric Neoplasm +

Malignant Ovarian Clear Cell Tumor +

Malignant Pleural Mesothelioma +

Malignant Salivary Gland Neoplasm +

Malignant Small Intestinal Neoplasm +

Mantle Cell Lymphoma +

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

Mediastinal Large B-Cell Lymphoma +

Non-Clear Cell Renal Cell Carcinoma +

Oral Cavity Squamous Cell Carcinoma +

Pancreatic Neuroendocrine Tumor +

Penile Carcinoma +

Peritoneal Mesothelioma +

Pleural Mesothelioma +

Primary Peritoneal Serous Adenocarcinoma +

Prostate Small Cell Carcinoma +

Skin Clear Cell Basal Cell Carcinoma +

Small Intestinal Neuroendocrine Tumor +

Squamous Cell Carcinoma Of The Penis +

Thymic Carcinoma +

Thymic Clear Cell Carcinoma +

Undifferentiated Sarcoma +

Ureter Urothelial Carcinoma +

Urethral Clear Cell Adenocarcinoma +

Uterine Corpus Carcinosarcoma +

Uterine Ligament Clear Cell Adenocarcinoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

Vulvar Clear Cell Hidradenocarcinoma +

Vulvar Squamous Cell 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 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.