Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.T253P
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TP53

NM_000546.6:p.T253P

Associated Papers

TP53 mutation heterogeneity reveals distinct prognoses in mantle cell lymphoma.

Liu S et al.

Annals of Hematology, 2026

41559357 (PubMed )
Supplement: 277_2026_6771_MOESM2_ESM.xlsx › TableS3

Phylogenetic analysis of paired breast carcinomas identifies genetic events associated with clonal recurrence and invasive progression.

Kader T et al.

The Journal of Pathology, 2026

41165701 (PubMed )
Supplement: PATH-268-1-s001.zip › path6461-sup-0001-SuppMatMethFiguresS1-S18TablesS1-S9 › path6461-sup-0003-TableS4.xlsx › Variants_recurrence_cases

Exon-level TP53 alterations and PD-L1 expression identified by pretreatment NGS stratify survival in EGFR-mutant non-small cell lung cancer treated with first-line osimertinib.

Kim SE et al.

Translational Lung Cancer Research, 2025

41510380 (PubMed )
Supplement: tlcr-14-12-5283-supplementary.pdf

Genetic Alterations, Therapy Response, and Survival Among Patients With Triple-Negative Breast Cancer: A Secondary Analysis of a Randomized Clinical Trial.

Richters L et al.

Jama Network Open, 2025

40009381 (PubMed )
Supplement: jamanetwopen-e2461639-s002.pdf

Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.

Funk JS et al.

Nature Genetics, 2025

39774325 (PubMed )
Supplement: 41588_2024_2039_MOESM5_ESM.xlsx › SuppFig6

Comprehensive classification of TP53 somatic missense variants based on their impact on p53 structural stability.

Tam B et al.

Briefings in Bioinformatics, 2024

39140857 (PubMed )
Supplement: table_s1_bbae400.xlsx › Sheet1

Comparison of TP53 mutations in myelodysplasia and acute leukemia suggests divergent roles in initiation and progression.

Jambhekar A et al.

Blood Neoplasia, 2024

40453522 (PubMed )
Supplement: BNEO_NEO-2023-000115-mmc1.xlsx › AML

Genomic instability analysis in DNA from Papanicolaou test provides proof-of-principle early diagnosis of high-grade serous ovarian cancer.

Paracchini L et al.

Science Translational Medicine, 2023

38055801 (PubMed )
Supplement: scitranslmed.adi2556_tables_s1_to_s13.zip › adi2556_Tables_S1_to_S13.xlsx › Table_S11

Real-World Use of Highly Sensitive Liquid Biopsy Monitoring in Metastatic Breast Cancer Patients Treated with Endocrine Agents after Exposure to Aromatase Inhibitors.

Fuentes-Antrás J et al.

International Journal of Molecular Sciences, 2023

37511178 (PubMed )
Supplement: ijms-24-11419-s001.zip › Supplementary_Table_S3.pdf

Identification of TP53 mutations in circulating tumour DNA in high grade serous ovarian carcinoma using next generation sequencing technologies.

Calapre L et al.

Scientific Reports, 2023

The Broad Spectrum of TP53 Mutations in CLL: Evidence of Multiclonality and Novel Mutation Hotspots.

Lazarian G et al.

Human Mutation, 2023

40225169 (PubMed )
Supplement: 4880113.f1.zip › table_S3.xlsx › table_S3

Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Adema V et al.

Ebiomedicine, 2022

35617825 (PubMed )
Supplement: mmc3.xlsx › Suppl_Table_3

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

Klonowska K et al.

The Journal of Clinical Investigation, 2022

35358092 (PubMed )
Supplement: jci-132-155858-s188.xlsx › Supplemental_Table_5.1.

Mutual exclusivity of ESR1 and TP53 mutations in endocrine resistant metastatic breast cancer.

Li Z et al.

Npj Breast Cancer, 2022

35538119 (PubMed )
Supplement: 41523_2022_426_MOESM1_ESM.pdf

Aberrant somatic hypermutation of CCND1 generates non-coding drivers of mantle cell lymphomagenesis.

Müller H et al.

Cancer Gene Therapy, 2022

35145272 (PubMed )
Supplement: 41417_2022_428_MOESM1_ESM.xlsx › 5k_data_set

Novel Anaplastic Thyroid Cancer PDXs and Cell Lines: Expanding Preclinical Models of Genetic Diversity.

Maniakas A et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

A DNA Damage Response Gene Panel for Different Histologic Types of Epithelial Ovarian Carcinomas and Their Outcomes.

Chiang YC et al.

Biomedicines, 2021

34680501 (PubMed )
Supplement: biomedicines-09-01384-s001.zip › OV_NGS_Table_S1.pdf

Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA.

Finkle JD et al.

Npj Precision Oncology, 2021

34215841 (PubMed )
Supplement: 41698_2021_202_MOESM1_ESM.pdf

Interrogating Mutant Allele Expression via Customized Reference Genomes to Define Influential Cancer Mutations.

Grant AD et al.

Scientific Reports, 2019

31484939 (PubMed )
Supplement: 41598_2019_48967_MOESM2_ESM.xls › Supplementary_Variant_File

New Challenges in Tumor Mutation Heterogeneity in Advanced Ovarian Cancer by a Targeted Next-Generation Sequencing (NGS) Approach.

Garziera M et al.

Cells, 2019

31197119 (PubMed )
Supplement: cells-08-00584-s001.zip › Table_S1-1.xlsx › Foglio1

Heterogeneous pathway activation and drug response modelled in colorectal-tumor-derived 3D cultures.

Schumacher D et al.

Plos Genetics, 2019

30925167 (PubMed )
Supplement: pgen.1008076.s007.xlsx › S2_Table

Hyperhaploid plasma cell myeloma characterized by poor outcome and monosomy 17 with frequently co-occurring TP53 mutations.

Peterson JF et al.

Blood Cancer Journal, 2019

appreci8: a pipeline for precise variant calling integrating 8 tools.

Sandmann S et al.

Bioinformatics (oxford, England), 2018

29945233 (PubMed )
Supplement: bty518_supplementary_data_s4.xlsx › TN_Mutations_Filter_2

Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

Clark TA et al.

The Journal of Molecular Diagnostics : Jmd, 2018

29936259 (PubMed )
Supplement: mmc12.xlsx › Table_S12

Dynamics of multiple resistance mechanisms in plasma DNA during EGFR-targeted therapies in non-small cell lung cancer.

Tsui DWY et al.

Embo Molecular Medicine, 2018

29848757 (PubMed )
Supplement: EMMM-10-e7945-s001.pdf

Optimized p53 immunohistochemistry is an accurate predictor of TP53 mutation in ovarian carcinoma.

Köbel M et al.

The Journal of Pathology. Clinical Research, 2016

27840695 (PubMed )
Supplement: CJP2-2-247-s010.xlsx › Koebel_TP53_data.txt

Detection of TP53 dysfunction in chronic lymphocytic leukemia by an in vitro functional assay based on TP53 activation by the non-genotoxic drug Nutlin-3: a proposal for clinical application.

Pozzo F et al.

Journal of Hematology & Oncology, 2013

24283248 (PubMed )
Supplement: 1756-8722-6-83-S1.pdf

TP53 mutations in endometrial cancers: relation to PTEN gene defects.

Janiec-Jankowska A et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2010

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