Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.Y126*
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TP53

NM_000546.6:p.Y126*

Associated Papers

Identification of actionable targets using DEPArray-based sorting of pure carcinoma and stromal populations from formalin-fixed paraffin-embedded tissues followed by shallow whole-genome sequencing.

Nteliopoulos G et al.

The Journal of Pathology, 2026

41144934 (PubMed )
Supplement: PATH-268-13-s002.xlsx › Table_S4

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

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM6_ESM.xlsx › sitednds_oral

Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.

Zwimpfer TA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41040691 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_S12

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

Hematologic Malignancy Frequency, Phenotypes, and Outcomes in Li-Fraumeni Syndrome.

Vagher J et al.

Jco Precision Oncology, 2025

40540701 (PubMed )
Supplement: DS2_PO-24-00860.xlsx › Supp_Table_2

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

Comprehensive transcriptome, miRNA and kinome profiling identifies new treatment options for personalized lung cancer therapy.

Zhong S et al.

Clinical and Translational Medicine, 2025

39995112 (PubMed )
Supplement: CTM2-15-e70177-s010.xlsx › Sheet1

RSK1 is an exploitable dependency in myeloproliferative neoplasms and secondary acute myeloid leukemia.

Kong T et al.

Nature Communications, 2025

39820365 (PubMed )
Supplement: 41467_2024_55643_MOESM3_ESM.xlsx › WashU_Cohort_RNAseq

DNA replication stress underpins the vulnerability to oxidative phosphorylation inhibition in colorectal cancer.

Zhao XH et al.

Cell Death & Disease, 2025

39809754 (PubMed )
Supplement: 41419_2025_7334_MOESM1_ESM.pdf

Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.

Funk JS et al.

Nature Genetics, 2025

39774325 (PubMed )
Supplement: 41588_2024_2039_MOESM12_ESM.xlsx › Fig7b_d

Genomic Profiling in Glioma Patients to Explore Clinically Relevant Markers.

Varachev V et al.

International Journal of Molecular Sciences, 2024

39684714 (PubMed )
Supplement: ijms-25-13004-s001.zip › Table_S1._Examples_of_somatic_genetic_alterations_in_glioma_samples.xlsx › ____1

Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.

Liu XD et al.

Heliyon, 2024

38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Identification of potentially actionable genetic variants in epithelial ovarian cancer: a retrospective cohort study.

Fieuws C et al.

Npj Precision Oncology, 2024

38519644 (PubMed )
Supplement: 41698_2024_565_MOESM1_ESM.pdf

"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.

Hadad S et al.

Acta Neuropathologica, 2023

38079020 (PubMed )
Supplement: 401_2023_2654_MOESM2_ESM.xlsx › Table_S3

All-CLL: A Capture-based Next-generation Sequencing Panel for the Molecular Characterization of Chronic Lymphocytic Leukemia.

López-Oreja I et al.

Hemasphere, 2023

37746159 (PubMed )
Supplement: hs9-7-e962-s002.xlsx › Table_S7

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_2.xlsx › PVs

Landscape of BCL2 Resistance Mutations in a Real-World Cohort of Patients with Relapsed/Refractory Chronic Lymphocytic Leukemia Treated with Venetoclax.

Kotmayer L et al.

International Journal of Molecular Sciences, 2023

36982875 (PubMed )
Supplement: ijms-24-05802-s001.zip › Kotmayer_et_al_Table_S2_2023.xlsx › Table_SII

Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.

Bhai P et al.

Frontiers in Oncology, 2023

37483495 (PubMed )
Supplement: Table_2.xlsx › all_patients_lung

Pathway-level mutation analysis in primary high-grade serous ovarian cancer and matched brain metastases.

Duchnowska R et al.

Scientific Reports, 2022

Comprehensive clinicopathological and genomic profiling of gallbladder cancer reveals actionable targets in half of patients.

de Bitter TJJ et al.

Npj Precision Oncology, 2022

36335173 (PubMed )
Supplement: 41698_2022_327_MOESM2_ESM.xlsx › Supplementary_Data_3

Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Usui Y et al.

Cancer Science, 2022

36065483 (PubMed )
Supplement: CAS-113-3972-s007.pdf

Impact of TP53 mutations in Triple Negative Breast Cancer.

Mitri ZI et al.

Npj Precision Oncology, 2022

36085319 (PubMed )
Supplement: 41698_2022_303_MOESM3_ESM.pdf

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TP53

Landscape of somatic alterations in large-scale solid tumors from an Asian population.

Wu L et al.

Nature Communications, 2022

35871175 (PubMed )
Supplement: 41467_2022_31780_MOESM6_ESM.xlsx › Supplementary_Data_4

Homologous recombination deficiency in diverse cancer types and its correlation with platinum chemotherapy efficiency in ovarian cancer.

Wen H et al.

Bmc Cancer, 2022

35578198 (PubMed )
Supplement: 12885_2022_9602_MOESM9_ESM.xlsx › Table_S6

Mapping molecular subtype specific alterations in breast cancer brain metastases identifies clinically relevant vulnerabilities.

Cosgrove N et al.

Nature Communications, 2022

35082299 (PubMed )
Supplement: 41467_2022_27987_MOESM22_ESM.xlsx › Sheet1

TP53 Mutations Identified Using NGS Comprise the Overwhelming Majority of TP53 Disruptions in CLL: Results From a Multicentre Study.

Catherwood MA et al.

Frontiers in Oncology, 2022

35837095 (PubMed )
Supplement: Table_1.xlsx › Table_1

p53 mitigates the effects of oncogenic HRAS in urothelial cells via the repression of MCOLN1.

Jung J et al.

Iscience, 2021

34222845 (PubMed )
Supplement: mmc6.xlsx › Supplementary_Table_5

The transcriptional landscape of Shh medulloblastoma.

Skowron P et al.

Nature Communications, 2021

33741928 (PubMed )
Supplement: 41467_2021_21883_MOESM5_ESM.xlsx › _B__Functional_Mutations

Downregulation of Cell Cycle and Checkpoint Genes by Class I HDAC Inhibitors Limits Synergism with G2/M Checkpoint Inhibitor MK-1775 in Bladder Cancer Cells.

Hoffmann MJ et al.

Genes, 2021

33670166 (PubMed )
Supplement: genes-12-00260-s001.zip › Supplementary › supp_Tables › Table_S2_Mutations_in_UCC.xlsx › TP53

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_12.XLSX › Sheet1

Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Lang GT et al.

Nature Communications, 2020

33173047 (PubMed )
Supplement: 41467_2020_19342_MOESM7_ESM.xlsx › PGI_fudan_NC_clnical.oc

Oncogenic driver mutations predict outcome in a cohort of head and neck squamous cell carcinoma (HNSCC) patients within a clinical trial.

Fernández-Mateos J et al.

Scientific Reports, 2020

33024167 (PubMed )
Supplement: 41598_2020_72927_MOESM2_ESM.xlsx › Sheet1

Fractionated small cell-free DNA increases possibility to detect cancer-related gene mutations in advanced colorectal cancer.

Ishida Y et al.

Jgh Open : an Open Access Journal of Gastroenterology and Hepatology, 2020

Identification of TP53 mutation associated-immunotype and prediction of survival in patients with hepatocellular carcinoma.

Shi M et al.

Annals of Translational Medicine, 2020

Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population.

Saadeh FS et al.

Plos One, 2020

33237934 (PubMed )
Supplement: pone.0242793.s003.xlsx › Sheet1

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

Ultra-Mutation in IDH Wild-Type Glioblastomas of Patients Younger than 55 Years is Associated with Defective Mismatch Repair, Microsatellite Instability, and Giant Cell Enrichment.

Barresi V et al.

Cancers, 2019

31480372 (PubMed )
Supplement: cancers-11-01279-s001.xlsx › S2_mutations

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

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

TP53 inactivation and expression of methylation-associated proteins in gastric adenocarcinoma with enteroblastic differentiation.

Yatagai N et al.

Virchows Archiv : an International Journal of Pathology, 2019

Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma.

Wong K et al.

Nature Communications, 2019

30664638 (PubMed )
Supplement: 41467_2018_8081_MOESM5_ESM.xlsx › Canine

Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.

Dehghani M et al.

Frontiers in Molecular Biosciences, 2019

31681791 (PubMed )
Supplement: Data_Sheet_14.XLSX › _FFPE_samples

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM5_ESM.xlsx › SD2
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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."