Overview

Gene Location [1]
17p13.1
Pathway
Cell cycle control
Variant Type
Deletion - Frameshift
Gene
TP53

TP53 Frameshift is present in 4.06% of AACR GENIE cases, with breast invasive ductal carcinoma, lung adenocarcinoma, colon adenocarcinoma, pancreatic adenocarcinoma, and high grade ovarian serous adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with TP53 Frameshift

Biomarker-Directed Therapies

Significance of TP53 Frameshift in Diseases

Chronic Lymphocytic Leukemia +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Multiple Myeloma +

Myelodysplastic Syndromes +

High Grade Ovarian Serous Adenocarcinoma +

Colorectal Carcinoma +

Malignant Solid Tumor +

Acute Myeloid Leukemia +

Acute Lymphoblastic Leukemia +

Head And Neck Squamous Cell Carcinoma +

Prolymphocytic Leukemia +

Esophageal Squamous Cell Carcinoma +

Ovarian Carcinoma +

Squamous Cell Lung Carcinoma +

Pancreatic Carcinoma +

Breast Carcinoma +

Non-Small Cell Lung Carcinoma +

Prostate Carcinoma +

Urothelial Carcinoma +

Soft Tissue Sarcoma +

Non-Hodgkin Lymphoma +

Lymphoma +

Anal Carcinoma +

Cervical Carcinoma +

Chronic Myeloid Leukemia +

Follicular Lymphoma +

Hodgkin Lymphoma +

Mantle Cell Lymphoma +

Penile Carcinoma +

Plasma Cell Leukemia +

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.