Overview

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

TP53 Nonsense is present in 5.67% of AACR GENIE cases, with colorectal adenocarcinoma, non-small cell lung carcinoma, breast carcinoma, ovarian neoplasm, and pancreatic exocrine neoplasm having the greatest prevalence [4].

Top Disease Cases with TP53 Nonsense

Biomarker-Directed Therapies

Significance of TP53 Nonsense in Diseases

Chronic Lymphocytic Leukemia +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Myelodysplastic Syndromes +

Non-Small Cell Lung Carcinoma +

Ovarian Carcinoma +

Multiple Myeloma +

Colorectal Carcinoma +

Malignant Solid Tumor +

Acute Myeloid Leukemia +

Head And Neck Squamous Cell Carcinoma +

Pancreatic Carcinoma +

Breast Carcinoma +

Lymphoma +

Chronic Myelomonocytic Leukemia +

Acute Lymphoblastic Leukemia +

Prolymphocytic Leukemia +

Penile Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Esophageal Squamous Cell Carcinoma +

Head And Neck Carcinoma +

Urothelial Carcinoma +

Bladder Carcinoma +

Melanoma +

Anaplastic Astrocytoma +

Sarcoma +

Prostate Carcinoma +

Glioblastoma +

Cervical Carcinoma +

Soft Tissue Sarcoma +

Anal Carcinoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Chronic Myeloid Leukemia +

Fallopian Tube Carcinoma +

Non-Hodgkin Lymphoma +

Plasma Cell Leukemia +

Primary Peritoneal Carcinoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

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. 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 4. 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.