Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.C124*
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TP53

NM_000546.6:p.C124*

Associated Papers

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

Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.

Cheng WY et al.

Blood, 2025

40829168 (PubMed )
Supplement: BLOOD_BLD-2024-027692-mmc5.xlsx › Sheet_1

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

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

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

Efficacy of ATR Kinase Inhibitor Elimusertib Monotherapy or Combination in Tumors with DNA Damage Response Pathway and Other Genomic Alterations.

Varadarajan K et al.

Molecular Cancer Therapeutics, 2025

40300249 (PubMed )
Supplement: mct-24-0884_supplementary_table_2_suppst2.pdf

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

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Molecular Landscape, Genomic Shift, and Prediction in the Neoadjuvant Setting of Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer.

Pons L et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Correlation of TP53 Genetic Alterations with p53 Immunohistochemical Expression and Their Prognostic Significance in DLBCL.

Chen C et al.

Current Oncology (toronto, Ont.), 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

TP53 mutations and survival in ovarian carcinoma patients receiving first-line chemotherapy plus bevacizumab: Results of the MITO16A/MaNGO OV-2 study.

Bignotti E et al.

International Journal of Cancer, 2025

39415516 (PubMed )
Supplement: IJC-156-1085-s004.xlsx › Mutations_detail

Detection of clinically relevant variants in the TP53 gene below 10% allelic frequency: A multicenter study by ERIC, the European Research Initiative on CLL.

Pavlova S et al.

Hemasphere, 2025

39840379 (PubMed )
Supplement: HEM3-9-e70065-s008.xlsx › Table_S7

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

Mutation patterns in colorectal cancer and their relationship with prognosis.

Su Z et al.

Heliyon, 2024

39263143 (PubMed )
Supplement: mmc1.xlsx › Tabelle1

Disruption of common ocular developmental pathways in patient-derived optic vesicle models of microphthalmia.

Eintracht J et al.

Stem Cell Reports, 2024

38821055 (PubMed )
Supplement: mmc6.pdf

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

The CHK1 inhibitor prexasertib in BRCA wild-type platinum-resistant recurrent high-grade serous ovarian carcinoma: a phase 2 trial.

Giudice E et al.

Nature Communications, 2024

38555285 (PubMed )
Supplement: 41467_2024_47215_MOESM7_ESM.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 › MDS

BRCA1, BRCA2, and TP53 germline and somatic variants and clinicopathological characteristics of Brazilian patients with epithelial ovarian cancer.

Richau CS et al.

Cancer Medicine, 2024

38308422 (PubMed )
Supplement: CAM4-13-e6729-s006.xlsx › Somatic_DC_VAF_TR

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table6.XLSX › Sheet1

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

Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types.

Sasaki K et al.

Scientific Reports, 2023

36964217 (PubMed )
Supplement: 41598_2023_32092_MOESM1_ESM.xlsx › Suppl._Table_S4

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.

Munté E et al.

Bioinformatics (oxford, England), 2023

36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST12-TP53

Cooperativity between H3.3K27M and PDGFRA poses multiple therapeutic vulnerabilities in human iPSC-derived diffuse midline glioma avatars.

Skinner KR et al.

Biorxiv : the Preprint Server for Biology, 2023

36865329 (PubMed )
Supplement: media-2.xlsx › pHGG_panel_metadata

Uterine Cavity Lavage Mutation Analysis in Lithuanian Ovarian Cancer Patients.

Žilovič D et al.

Cancers, 2023

36765826 (PubMed )
Supplement: cancers-15-00868-s001.zip › cancers-2125909-supplementary.pdf

Comprehensive genomic profiling of a metastatic small cell lung carcinoma with a complete and long-term response to atezolizumab: A case report.

Tomic K et al.

Respiratory Medicine Case Reports, 2023

Assessment of aggressive bladder cancer mutations in plasma cell-free DNA.

Carrasco R et al.

Frontiers in Oncology, 2023

38098507 (PubMed )
Supplement: DataSheet_3.xlsx › Pt_1

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

NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma.

Ramakrishnan G et al.

Cell Reports, 2022

36351408 (PubMed )
Supplement: NIHMS1848910-supplement-2.xlsx › NF1-TP53-pi16INK4A-Smad4

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

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Kar SP et al.

Nature Genetics, 2022

35835912 (PubMed )
Supplement: 41588_2022_1121_MOESM3_ESM.xlsx › ST4

The longitudinal dynamics and natural history of clonal haematopoiesis.

Fabre MA et al.

Nature, 2022

35650444 (PubMed )
Supplement: 41586_2022_4785_MOESM9_ESM.xlsx › ParametersAgeAtOnset

Differences in the Molecular Profile between Primary Breast Carcinomas and Their Cutaneous Metastases.

González-Martínez S et al.

Cancers, 2022

35267459 (PubMed )
Supplement: cancers-14-01151-s001.zip › cancers-1605205-supplementary.xlsx › Table_S1

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.

Fortuno C et al.

Human Mutation, 2021

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

Genomic Signature of Mismatch Repair Deficiency in Areca Nut-Related Oral Cancer.

Yang WF et al.

Journal of Dental Research, 2020

Rhabdomyosarcoma associated with germline TP53 alteration in children and adolescents: The French experience.

Pondrom M et al.

Pediatric Blood & Cancer, 2020

Identification of relevant genetic alterations in cancer using topological data analysis.

Rabadán R et al.

Nature Communications, 2020

32732999 (PubMed )
Supplement: 41467_2020_17659_MOESM3_ESM.xls › TableS1

A step towards personalizing next line therapy for resected pancreatic and related cancer patients: A single institution's experience.

Lowder CY et al.

Surgical Oncology, 2020

Longitudinal analysis of a secondary BRCA2 mutation using digital droplet PCR.

Khalique S et al.

The Journal of Pathology. Clinical Research, 2020

Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Peng M et al.

Journal of Medical Genetics, 2019

30981987 (PubMed )
Supplement: jmedgenet-2018-105825supp001.xlsx › Table_S3
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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."