Associated Genetic Biomarkers
Associated Diseases

Overview

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

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 Amplification (0.05%), PMS1 R630* (0.02%), PMS1 Loss (0.02%), and PMS1 E27Q (0.01%) [3].

PMS1 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of PMS1 in Diseases

Malignant Solid Tumor +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Melanoma +

Head And Neck Squamous Cell Carcinoma +

Urothelial Carcinoma +

Renal Cell Carcinoma +

Breast Carcinoma +

Gastric Carcinoma +

Endometrial Carcinoma +

Cervical Carcinoma +

Small Cell Lung Carcinoma +

Hepatocellular Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Merkel Cell Carcinoma +

Ovarian Carcinoma +

Prostate Carcinoma +

Prostate Adenocarcinoma +

Gastric Adenocarcinoma +

Bladder Carcinoma +

Mesothelioma +

Esophageal Carcinoma +

Skin Squamous Cell Carcinoma +

Pancreatic Carcinoma +

Fallopian Tube Carcinoma +

Head And Neck Carcinoma +

Primary Peritoneal Carcinoma +

Colorectal Adenocarcinoma +

Cholangiocarcinoma +

Anal Carcinoma +

Basal Cell Carcinoma +

Classical Hodgkin Lymphoma +

Rectal Adenocarcinoma +

Cancer +

Esophagogastric Carcinoma +

Biliary Tract Carcinoma +

Pancreatic Adenocarcinoma +

Diffuse Large B-Cell Lymphoma +

Hodgkin Lymphoma +

Nasopharyngeal Carcinoma +

Non-Hodgkin Lymphoma +

Salivary Gland Carcinoma +

Thyroid Gland Carcinoma +

Cutaneous Melanoma +

Endometrial Endometrioid Adenocarcinoma +

Endometrial Adenocarcinoma +

Colon Adenocarcinoma +

Colon Carcinoma +

Bladder Urothelial Carcinoma +

Malignant Uterine Neoplasm +

Squamous Cell Carcinoma +

Neuroendocrine Carcinoma +

Glioma +

Malignant Ovarian Epithelial Tumor +

High Grade Ovarian Serous Adenocarcinoma +

Sarcoma +

Adnexal Carcinoma +

Anal Canal Squamous Cell Carcinoma +

Anal Squamous Cell Carcinoma +

Carcinosarcoma +

Cervical Squamous Cell Carcinoma +

Clear Cell Renal Cell Carcinoma +

Endometrial Clear Cell Adenocarcinoma +

Endometrial Serous Adenocarcinoma +

Endometrial Undifferentiated Carcinoma +

Esophageal Squamous Cell Carcinoma +

Gallbladder Carcinoma +

Laryngeal Squamous Cell Carcinoma +

Lynch Syndrome +

Oral Cavity Squamous Cell Carcinoma +

Ovarian Clear Cell Tumor +

Pancreatic Ductal Adenocarcinoma +

Soft Tissue Sarcoma +

Squamous Cell Carcinoma Of The Penis +

Thymic Carcinoma +

Vulvar Carcinoma +

Skin Carcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Squamous Cell Lung Carcinoma +

Lung Neuroendocrine Neoplasm +

Malignant Intestinal Neoplasm +

Lung Carcinoma +

Adenocarcinoma +

Carcinoma +

Central Nervous System Neoplasm +

Malignant Esophagogastric Neoplasm +

Lymphoma +

Kidney Carcinoma +

Acute Myeloid Leukemia +

Ampulla Of Vater Carcinoma +

Ampulla Of Vater Clear Cell Adenocarcinoma +

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 +

Chondrosarcoma +

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 +

Constitutional Mismatch Repair Deficiency Syndrome +

Desmoid-Type Fibromatosis +

Endometrial Mixed Adenocarcinoma +

Esophageal Adenocarcinoma +

Ewing Sarcoma +

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 +

Leiomyosarcoma +

Liposarcoma +

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 +

Mucosal Melanoma +

Non-Clear Cell Renal Cell Carcinoma +

Non-Squamous Non-Small Cell Lung Carcinoma +

Ocular Melanoma +

Osteosarcoma +

Pecoma +

Pancreatic Neuroendocrine Tumor +

Penile Carcinoma +

Peritoneal Mesothelioma +

Pharyngeal Squamous Cell Carcinoma +

Pleural Mesothelioma +

Primary Cutaneous T Cell Non-Hodgkin Lymphoma +

Primary Mediastinal B-Cell Lymphoma +

Primary Peritoneal Serous Adenocarcinoma +

Prostate Small Cell Carcinoma +

Skin Basosquamous Cell Carcinoma +

Skin Clear Cell Basal Cell Carcinoma +

Small Intestinal Neuroendocrine Tumor +

Thymic Clear Cell Carcinoma +

Thymoma +

Undifferentiated (Embryonal) Sarcoma +

Undifferentiated Pleomorphic Sarcoma +

Ureter Urothelial Carcinoma +

Urethral Clear Cell Adenocarcinoma +

Uterine Corpus Carcinosarcoma +

Uterine Ligament Clear Cell Adenocarcinoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar Clear Cell Hidradenocarcinoma +

Vulvar Squamous Cell Carcinoma +

Xeroderma Pigmentosum +

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.