Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.Q331R
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TP53

NM_000546.6:p.Q331R

Associated Papers

SATB2 Induces Malignant Transformation and Cancer Stem Cell Characteristics, and Inhibition of Its Expression Reverses Drug Resistance in Mesothelioma.

Brown C et al.

Cells, 2026

Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.

Fortuno C et al.

Human Genomics, 2025

Genomic Characterization of Preclinical Prostate Cancer Cell Line Models.

Beatson EL et al.

International Journal of Molecular Sciences, 2024

Epigenetic regulation of TP53 is involved in prostate cancer radioresistance and DNA damage response signaling.

Macedo-Silva C et al.

Signal Transduction and Targeted Therapy, 2023

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2a.Studied_gene

Co-evolution of AR gene copy number and structural complexity in endocrine therapy resistant prostate cancer.

Zivanovic A et al.

Nar Cancer, 2023

37636316 (PubMed )
Supplement: zcad045_supplemental_files.zip › SupplementaryDataS12.xlsx › Sheet_1

Gain-of-function mutant p53 together with ERG proto-oncogene drive prostate cancer by beta-catenin activation and pyrimidine synthesis.

Ding D et al.

Nature Communications, 2023

Dual guide RNA-mediated concurrent C&G-to-T&A and A&T-to-G&C conversions using CRISPR base editors.

Zhao Y et al.

Computational and Structural Biotechnology Journal, 2023

Fanconi anemia pathway regulation by FANCI in prostate cancer.

Kaljunen H et al.

Frontiers in Oncology, 2023

Genomic landscape of lung cancer in the young.

Ruiz R et al.

Frontiers in Oncology, 2022

36263208 (PubMed )
Supplement: DataSheet_2.pdf

Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

G V et al.

Frontiers in Genetics, 2022

36561320 (PubMed )
Supplement: Table2.xlsx › TP53

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_3.xlsx › Sheet1

Analysis and Interpretation of the Impact of Missense Variants in Cancer.

Petrosino M et al.

International Journal of Molecular Sciences, 2021

34063805 (PubMed )
Supplement: ijms-22-05416-s001.zip › new_supplementary_file1.xlsx › new_supplementary_file1

Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.

Zhang H et al.

Oncology Letters, 2021

33692861 (PubMed )
Supplement: Supplementary_Data.pdf

Survival Implications of the Relationship between Tissue versus Circulating Tumor DNA TP53 Mutations-A Perspective from a Real-World Precision Medicine Cohort.

Rosenberg S et al.

Molecular Cancer Therapeutics, 2020

Therapeutic potential of ReACp53 targeting mutant p53 protein in CRPC.

Zhang Y et al.

Prostate Cancer and Prostatic Diseases, 2020

Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.

Woodhouse R et al.

Plos One, 2020

32976510 (PubMed )
Supplement: pone.0237802.s009.zip › Table_9_Accuracy_Short_Variant_Line_Data.xlsx › sheet_1

The Δ133p53β isoform promotes an immunosuppressive environment leading to aggressive prostate cancer.

Kazantseva M et al.

Cell Death & Disease, 2019

From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Quinn EA et al.

Cold Spring Harbor Molecular Case Studies, 2019

30886117 (PubMed )
Supplement: supp_mcs.a003921_Supplemental_Table_1a.xlsx › S_Table1a._TP53_in_ClinVar

EZH2 cooperates with gain-of-function p53 mutants to promote cancer growth and metastasis.

Zhao Y et al.

The Embo Journal, 2019

Mutational processes shape the landscape of TP53 mutations in human cancer.

Giacomelli AO et al.

Nature Genetics, 2018

30224644 (PubMed )
Supplement: NIHMS1501645-supplement-3.xlsx › Sheet1

Activation of p53 and destabilization of androgen receptor by combinatorial inhibition of MDM2 and MDMX in prostate cancer cells.

Chopra H et al.

Oncotarget, 2018

Suppression of CHK1 by ETS Family Members Promotes DNA Damage Response Bypass and Tumorigenesis.

Lunardi A et al.

Cancer Discovery, 2015

Identifying the determinants of response to MDM2 inhibition.

Saiki AY et al.

Oncotarget, 2015

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

TP53 mutations in human cancer: database reassessment and prospects for the next decade.

Leroy B et al.

Human Mutation, 2014

24665023 (PubMed )
Supplement: supplement_1.pdf

p53 expression controls prostate cancer sensitivity to chemotherapy and the MDM2 inhibitor Nutlin-3.

Chappell WH et al.

Cell Cycle (georgetown, Tex.), 2012

Cancer-associated p53 tetramerization domain mutants: quantitative analysis reveals a low threshold for tumor suppressor inactivation.

Kamada R et al.

The Journal of Biological Chemistry, 2011

Evaluation of transcriptional activity of p53 in individual living mammalian cells.

Imagawa T et al.

Analytical Biochemistry, 2009

Modulation of beta-catenin-mediated TCF-signalling in prostate cancer cell lines by wild-type and mutant p53.

Prowald A et al.

The Prostate, 2007

A dominant role for p53-dependent cellular senescence in radiosensitization of human prostate cancer cells.

Lehmann BD et al.

Cell Cycle (georgetown, Tex.), 2007

Parallel analysis of tetramerization domain mutants of the human p53 protein using PCR colonies.

Merritt J et al.

Genomic Medicine, 2007

Unique substitution of CHEK2 and TP53 mutations implicated in primary prostate tumors and cancer cell lines.

Zheng L et al.

Human Mutation, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."