Associated Genetic Biomarkers

Overview

Gene Location [1]
19q13.41
Pathway
DNA damage/repair
Gene
PPP2R1A

PPP2R1A Mutation is present in 1.28% of AACR GENIE cases, with endometrial serous adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, lung adenocarcinoma, and endometrial carcinoma having the greatest prevalence [4].

Top Disease Cases with PPP2R1A Mutation

Significance of PPP2R1A Mutation in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Ovarian Carcinoma +

Breast Carcinoma +

Primary Peritoneal Carcinoma +

Cervical Carcinoma +

Fallopian Tube Carcinoma +

Non-Hodgkin Lymphoma +

Endometrial Carcinoma +

Colorectal Carcinoma +

Urothelial Carcinoma +

Cholangiocarcinoma +

Non-Small Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Malignant Small Intestinal Neoplasm +

Malignant Ovarian Epithelial Tumor +

Malignant Intestinal Neoplasm +

High Grade Ovarian Serous Adenocarcinoma +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Bladder Urothelial Carcinoma +

Malignant Esophagogastric Neoplasm +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Clear Cell Renal Cell Carcinoma +

Diffuse Large B-Cell Lymphoma +

Esophageal Carcinoma +

Gastrointestinal Stromal Tumor +

Hepatocellular Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Kidney Carcinoma +

Mantle Cell Lymphoma +

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

Mesothelioma +

Penile Carcinoma +

Small Cell Lung Carcinoma +

Soft Tissue Sarcoma +

Uveal Melanoma +

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. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. 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.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.