Associated Genetic Biomarkers


Gene Location [1]
Cell cycle control

TP53 Mutation is present in 32.78% of AACR GENIE cases, with lung adenocarcinoma, breast invasive ductal carcinoma, colon adenocarcinoma, pancreatic adenocarcinoma, and colorectal adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with TP53 Mutation

Significance of TP53 Mutation in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Chronic Myeloid Leukemia +

Hodgkin Lymphoma +

Non-Hodgkin Lymphoma +

Chronic Myelomonocytic Leukemia +

Chronic Lymphocytic Leukemia +

Multiple Myeloma +

Acute Biphenotypic Leukemia +

Malignant Solid Tumor +

Mantle Cell Lymphoma +

Non-Small Cell Lung Carcinoma +

Lymphoma +

Burkitt Lymphoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Myeloproliferative Neoplasm +

Anaplastic Large Cell Lymphoma +

Juvenile Myelomonocytic Leukemia +

Ovarian Carcinoma +

Acute Leukemia +

Follicular Lymphoma +

Myelofibrosis +

Marginal Zone Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Secondary Acute Myeloid Leukemia +

Small Lymphocytic Lymphoma +

Breast Carcinoma +

Diffuse Large B-Cell Lymphoma +

Prolymphocytic Leukemia +

Refractory Anemia With Excess Blasts +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Double-Hit Lymphoma +

Endometrial Serous Adenocarcinoma +

Bladder Carcinoma +

Glioblastoma +

Prostate Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Fallopian Tube Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Lymphoblastic Lymphoma +

Lymphoplasmacytic Lymphoma +

Mixed Phenotype Acute Leukemia +

Myelodysplastic Syndrome With Excess Blasts-2 +

Plasma Cell Leukemia +

Primary Peritoneal Carcinoma +

T-Cell Acute Lymphoblastic Leukemia +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Therapy-Related Acute Myeloid Leukemia +

Therapy-Related Myelodysplastic Syndrome +

High Grade Ovarian Serous Adenocarcinoma +

Small Cell Lung Carcinoma +

Colorectal Adenocarcinoma +

Anaplastic Astrocytoma +

Urothelial Carcinoma +

Melanoma +

Leukemia +

Peripheral T-Cell Lymphoma +

B-Cell Acute Lymphoblastic Leukemia +

Acute Undifferentiated Leukemia +

Burkitt Leukemia +

High Grade Fallopian Tube Serous Adenocarcinoma +

Mature T-Cell And NK-Cell Lymphoma/Leukemia +

Mature T-Cell And NK-Cell Neoplasm +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Primary Peritoneal Serous Adenocarcinoma +

Refractory Anemia +

Esophageal Squamous Cell Carcinoma +

Anaplastic Oligoastrocytoma +

Esophageal Carcinoma +

Squamous Cell Lung Carcinoma +

Uterine Carcinosarcoma +

Ovarian Serous Tumor +

Colorectal Carcinoma +

Malignant Intestinal Neoplasm +

Malignant Esophagogastric Neoplasm +

Pancreatic Carcinoma +

Pancreatic Adenocarcinoma +

Gliosarcoma +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Gastric Adenocarcinoma +

Malignant Small Intestinal Neoplasm +

Transitional Cell Carcinoma +

Cancer +

Endometrial Carcinoma +

Cholangiocarcinoma +

Prostate Adenocarcinoma +

Sarcoma +

Ovarian Endometrioid Adenocarcinoma +

Myeloid Neoplasm +

Rhabdomyosarcoma +

Ewing Sarcoma +

Malignant Testicular Neoplasm +

Kidney Carcinoma +

T-Cell Non-Hodgkin Lymphoma +

Clear Cell Renal Cell Carcinoma +

Adenoid Cystic Carcinoma +

Gastrointestinal Stromal Tumor +

Acute Bilineal Leukemia +

Acute Erythroid Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Megakaryoblastic Leukemia +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Acute Promyelocytic Leukemia +

Adult Acute Lymphoblastic Leukemia +

Adult T-Cell Leukemia/Lymphoma +

Ampulla Of Vater Carcinoma +

Aplastic Anemia +

B-Cell Prolymphocytic Leukemia +

Breast Lobular Carcinoma In Situ +

Desmoplastic Small Round Cell Tumor +

Fallopian Tube Endometrioid Adenocarcinoma +

Head And Neck Carcinoma +

Hereditary Breast And Ovarian Cancer Syndrome +

Histiocytic And Dendritic Cell Neoplasm +

Indolent Non-Hodgkin Lymphoma +

Mature B-Cell Lymphoma/Leukemia +

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

Mediastinal Large B-Cell Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myeloid Sarcoma +

Neuroblastoma +

Plasma Cell Neoplasm +

Polycythemia Vera +

Primary Myelofibrosis +

Primary Peritoneal Endometrioid Adenocarcinoma +

Secondary Myelodysplastic Syndrome +

Small Lymphocytic Leukemia +

T-Cell Prolymphocytic Leukemia +

Therapy-Related Chronic Myelomonocytic Leukemia +

WHO Grade III Glioma +

Waldenstrom Macroglobulinemia +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015.

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.