Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.Y220H
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TP53

NM_000546.6:p.Y220H

Associated Papers

Detecting TP53 mutations in paired liquid and tissue biopsies from patients with high-grade serous ovarian carcinoma.

Widjaja AO et al.

International Journal of Cancer, 2026

41363274 (PubMed )
Supplement: IJC-158-2043-s001.zip › Supporting_Information.pdf

Targeting the p53 cancer mutants Y220C, Y220N, and Y220S with the small-molecule stabilizer rezatapopt.

Mavridi D et al.

Cell Death & Disease, 2026

TP53 mutation predict poor prognosis in diffuse large B-cell lymphoma: a single-center study.

Zhang H et al.

Annals of Hematology, 2026

41609884 (PubMed )
Supplement: 277_2026_6821_MOESM2_ESM.xlsx › Sheet1

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 › TableS2

Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.

Brand F et al.

Acta Neuropathologica, 2026

41546701 (PubMed )
Supplement: 401_2025_2972_MOESM1_ESM.pdf

Mechanistic Insights into the Allosteric Regulation of P53 Y220C by Small-Molecule Stabilizers.

Wen Y et al.

Journal of Chemical Information and Modeling, 2025

Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.

Allsopp RC et al.

Bmc Cancer, 2025

41351070 (PubMed )
Supplement: 12885_2025_15187_MOESM1_ESM.zip › Supp_Table_1.xlsx › Sheet1

Identification of high-risk signatures and therapeutic targets through molecular characterization and immune profiling of TP53-mutant breast cancer.

Paulino PJIV et al.

Journal, Genetic Engineering & Biotechnology, 2025

41386839 (PubMed )
Supplement: mmc5.xlsx › Table_S2

Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.

Ahmad RM et al.

Briefings in Bioinformatics, 2025

41263939 (PubMed )
Supplement: supplementary_materials_bbaf611_1_.zip › Supplementary_materials_bbaf611 › Supplementary_Table_S8.xlsx › Sheet1

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

Comparative outcome and prognostic factor analysis among MDS/AML patients with TP53 mutations, snps, and wild type.

Yang X et al.

Human Genomics, 2025

Clinical Significance of TP53-Mutant Clonal Hematopoiesis Across Diseases.

Usui Y et al.

Blood Cancer Discovery, 2025

40525786 (PubMed )
Supplement: bcd-24-0355_table_s2_suppst2.xlsx › Sheet1

Primary pulmonary malignant melanoma with H3K27Me3 loss: A case report.

Li H et al.

Oncology Letters, 2025

High-Frequency Mutations in TP53, AXIN1, CTNNB1, and KRAS, and Polymorphisms in JAK1 Genes Among Mongolian HCC Patients.

Bold N et al.

Cancer Reports (hoboken, N.j.), 2025

40344393 (PubMed )
Supplement: CNR2-8-e70227-s001.xlsx › Sample_Information

TP53 Mutation Status in Myelodysplastic Neoplasm and Acute Myeloid Leukemia: Impact of Reclassification Based on the 5th WHO and International Consensus Classification Criteria: A Korean Multicenter Study.

Kim HY et al.

Annals of Laboratory Medicine, 2025

39497415 (PubMed )
Supplement: alm-45-2-160-supple.pdf

Clinicogenomic landscape of pancreatic adenocarcinoma identifies KRAS mutant dosage as prognostic of overall survival.

Varghese AM et al.

Nature Medicine, 2025

39753968 (PubMed )
Supplement: 41591_2024_3362_MOESM2_ESM.xlsx › SupplementaryTable2_IMPACT_Alts

Selective utilization of circulating tumor DNA testing enables disease monitoring in endometrial and ovarian carcinomas.

Jamieson A et al.

Journal of Gynecologic Oncology, 2025

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

An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.

Szafron LA et al.

International Journal of Molecular Sciences, 2024

39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › 44.genes.SNP_all_variants

Bioinformatic Characterization of the Functional and Structural Effect of Single Nucleotide Mutations in Patients with High-Grade Glioma.

Vélez Gómez S et al.

Biomedicines, 2024

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › TP53

TP53 mutation screening for patients at risk of myeloid malignancy.

Mukherjee D et al.

Leukemia, 2024

Genomic alteration discordance in the paired primary-recurrent ovarian cancers: based on the comprehensive genomic profiling (CGP) analysis.

Dong J et al.

Journal of Ovarian Research, 2024

38937827 (PubMed )
Supplement: 13048_2024_1455_MOESM7_ESM.xlsx › Table_S2

Genetic Testing of Breast Cancer Patients with Very Early-Onset Breast Cancer (≤30 Years) Yields a High Rate of Germline Pathogenic Variants, Mainly in the BRCA1, TP53, and BRCA2 Genes.

Apostolou P et al.

Cancers, 2024

39001430 (PubMed )
Supplement: cancers-16-02368-s001.zip › cancers-3067616-supplementary.pdf

Influence of TP53 mutation on efficacy and survival in advanced EGFR-mutant non-small cell lung cancer patients treated with third-generation EGFR tyrosine kinase inhibitors.

Zhang Z et al.

Medcomm, 2024

38832214 (PubMed )
Supplement: MCO2-5-e586-s001.docx

Mutations in the TP53, VEGFA, and CTH Genes as Key Molecular Markers for the Diagnosis of Glioblastoma.

Khalil SS et al.

Cureus, 2024

The TP53-activated E3 ligase RNF144B is a tumour suppressor that prevents genomic instability.

Abad E et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2024

38685100 (PubMed )
Supplement: 13046_2024_3045_MOESM2_ESM.xlsx › Patient_p53_mutated_samples

Molecular Characterization of Advanced-Stage Melanomas in Clinical Practice Using a Laboratory-Developed Next-Generation Sequencing Panel.

Maloberti T et al.

Diagnostics (basel, Switzerland), 2024

38667446 (PubMed )
Supplement: diagnostics-14-00800-s001.zip › Supplementary_Table_S1.xlsx › Foglio1

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

TP53 mutation screening for patients at risk of myeloid malignancy.

Mukherjee D et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38410480 (PubMed )
Supplement: media-4.xlsx › variants

AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology.

Klever MK et al.

Blood Advances, 2023

37582288 (PubMed )
Supplement: BLOODA_ADV-2023-010887-mmc1.xlsx › Supplemental_Table_1

Baseline Mutations and ctDNA Dynamics as Prognostic and Predictive Factors in ER-Positive/HER2-Negative Metastatic Breast Cancer Patients.

Pascual J et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

37490393 (PubMed )
Supplement: ccr-23-0956_supplementary_table_s2_suppts2.xlsx › PEARL_baseline_mutations

Prospective clinical sequencing of 1016 Chinese prostate cancer patients: uncovering genomic characterization and race disparity.

Wei Y et al.

Molecular Oncology, 2023

37584393 (PubMed )
Supplement: MOL2-17-2183-s002.xlsx › Table_S6

p53 amyloid pathology is correlated with higher cancer grade irrespective of the mutant or wild-type form.

Sengupta S et al.

Journal of Cell Science, 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

TP53 germline pathogenic variants in modern humans were likely originated during recent human history.

Kou SH et al.

Nar Cancer, 2023

37304756 (PubMed )
Supplement: zcad025_supplemental_files.zip › Supplementary_Table_1.xlsx › Table_S1

Monitoring the Outcomes of Systemic Chemotherapy Including Immune Checkpoint Inhibitor for HER2-Positive Metastatic Gastric Cancer by Liquid Biopsy.

Jung SH et al.

Yonsei Medical Journal, 2023

37634629 (PubMed )
Supplement: ymj-64-531-s003.pdf

Single-cell multi-omics identifies chronic inflammation as a driver of TP53-mutant leukemic evolution.

Rodriguez-Meira A et al.

Nature Genetics, 2023

Challenging interpretation of germline TP53 variants based on the experience of a national comprehensive cancer centre.

Butz H et al.

Scientific Reports, 2023

37653074 (PubMed )
Supplement: 41598_2023_41481_MOESM3_ESM.xlsx › gnomAD_v2.1.1__non-cancer_
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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."