Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.V122delFs
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TP53

NM_000546.6:p.V122delFs

Associated Papers

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

TP53 p.R181H is enriched in the Swedish cohort (SWEP53) and associated with a distinct breast and prostate phenotype.

Sun Zhang A et al.

Scientific Reports, 2025

41057495 (PubMed )
Supplement: 41598_2025_22407_MOESM1_ESM.docx

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

Transmission ratio distortion of germline TP53 variants in Li-Fraumeni syndrome families.

Halpern N et al.

Cancer, 2025

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

Evaluation of whole genome sequencing utility in identifying driver alterations in cancer genome.

Nagashima T et al.

Scientific Reports, 2024

39396060 (PubMed )
Supplement: 41598_2024_74272_MOESM1_ESM.xlsx › somatic_snv_indel

Real-world routine diagnostic molecular analysis for TP53 mutational status is recommended over p53 immunohistochemistry in B-cell lymphomas.

de Haan LM et al.

Virchows Archiv : an International Journal of Pathology, 2024

37851120 (PubMed )
Supplement: 428_2023_3676_MOESM3_ESM.xlsx › Sheet1__2_

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

Khalil SS et al.

Cureus, 2024

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

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 2015-10225A1.xls › SNVIndel

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › TP53

TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.

Zhou Y et al.

Journal of Translational Medicine, 2023

38037073 (PubMed )
Supplement: 12967_2023_4742_MOESM1_ESM.xlsx › Sheet1

Molecular profiling and feasibility using a comprehensive hybrid capture panel on a consecutive series of non-small-cell lung cancer patients from a single centre.

Mosteiro M et al.

Esmo Open, 2023

38070435 (PubMed )
Supplement: mmc4.xlsx › Small_variants

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

The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.

Tsantikidi A et al.

Diagnostics (basel, Switzerland), 2023

37761329 (PubMed )
Supplement: diagnostics-13-02962-s001.zip › supplementary__Table_S2.xlsx › Table_S2_Samples_analyzed

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

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable9

Homologous recombination deficiency derived from whole-genome sequencing predicts platinum response in triple-negative breast cancers.

Ter Brugge P et al.

Nature Communications, 2023

37029129 (PubMed )
Supplement: 41467_2023_37537_MOESM4_ESM.xlsx › Feuil1

Coincidence of primary adrenocortical carcinoma and melanoma: three CASE reports.

Ko YL et al.

Bmc Endocrine Disorders, 2023

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

Comprehensive Approach to Genomic and Immune Profiling: Insights of a Real-World Experience in Gynecological Tumors.

Prieto-Potin I et al.

Diagnostics (basel, Switzerland), 2022

36010253 (PubMed )
Supplement: diagnostics-12-01903-s001.zip › Table_S3._OCA_v3_RAW_DATA.xlsx › GENERAL

Upfront Next Generation Sequencing in Non-Small Cell Lung Cancer.

Kuang S et al.

Current Oncology (toronto, Ont.), 2022

35877212 (PubMed )
Supplement: curroncol-29-00352-s001.zip › LUNGS1_16_june_2022_supplemental_2_variants_no_code.pdf

Investigating the genomic alteration improved the clinical outcome of aged patients with lung carcinoma.

Chen S et al.

Bmc Genomics, 2022

35031014 (PubMed )
Supplement: 12864_2021_8289_MOESM1_ESM.xlsx › Table_S1

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

Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Ma X et al.

Frontiers in Endocrinology, 2022

Low-burden TP53 mutations in CLL: clinical impact and clonal evolution within the context of different treatment options.

Malcikova J et al.

Blood, 2021

33945616 (PubMed )
Supplement: 10.1182-2020009530_bloodbld2020009530-suppl1.xlsx › Table_S6

Preexisting TP53-Variant Clonal Hematopoiesis and Risk of Secondary Myeloid Neoplasms in Patients With High-grade Ovarian Cancer Treated With Rucaparib.

Kwan TT et al.

Jama Oncology, 2021

Clinical, Molecular and Genetic Characteristics of Early Onset Gastric Cancer: Analysis of a Large Multicenter Study.

Pocurull A et al.

Cancers, 2021

Multi-omics profiling of primary small cell carcinoma of the esophagus reveals RB1 disruption and additional molecular subtypes.

Li R et al.

Nature Communications, 2021

34145257 (PubMed )
Supplement: 41467_2021_24043_MOESM5_ESM.xlsx › Sheet1

A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Xiao J et al.

Bmc Cancer, 2021

33726687 (PubMed )
Supplement: 12885_2021_7942_MOESM3_ESM.xlsx › Table_S2

A higher ctDNA fraction decreases survival in regorafenib-treated metastatic colorectal cancer patients. Results from the regorafenib's liquid biopsy translational biomarker phase II pilot study.

Unseld M et al.

International Journal of Cancer, 2021

32949150 (PubMed )
Supplement: IJC-148-1452-s003.xlsx › Table_S3

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

Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.

Zhang S et al.

Frontiers in Oncology, 2021

34221970 (PubMed )
Supplement: Table_5.xlsx › Supplementary_Table_S5

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

Genetic Counseling for Hereditary Gastric and Pancreatic Cancer in High-Risk Gastrointestinal Cancer Clinics: An Effective Strategy.

Llach J et al.

Cancers, 2020

Monosomal karyotype and chromosome 17p loss or TP53 mutations in decitabine-treated patients with acute myeloid leukemia.

Becker H et al.

Annals of Hematology, 2020

32504186 (PubMed )
Supplement: 277_2020_4082_MOESM1_ESM.pdf

Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.

Van Marcke C et al.

Breast Cancer Research : Bcr, 2020

Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.

Mittempergher L et al.

Plos One, 2020

32639993 (PubMed )
Supplement: pone.0235766.s008.xlsx › Table_S2B__all_genes_

Spectrum of TP53 Mutations in BRCA1/2 Associated High-Grade Serous Ovarian Cancer.

Boyarskikh UA et al.

Frontiers in Oncology, 2020

32766142 (PubMed )
Supplement: Table_2.XLSX › list_of_TP53_mutations

Somatic mutation profiling and HER2 status in KRAS-positive Chinese colorectal cancer patients.

Dong Z et al.

Scientific Reports, 2019

31729406 (PubMed )
Supplement: 41598_2019_53039_MOESM1_ESM.pdf

Functional characterization of novel germline TP53 variants in Swedish families.

Kharaziha P et al.

Clinical Genetics, 2019

CCNE1 amplification is associated with poor prognosis in patients with triple negative breast cancer.

Zhao ZM et al.

Bmc Cancer, 2019

30665374 (PubMed )
Supplement: 12885_2019_5290_MOESM1_ESM.xlsx › CCNE1ms_forSupplData_FMOne_Pilo

Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Wang Y et al.

Frontiers in Oncology, 2019

30886832 (PubMed )
Supplement: Table_2.xls › Table_2

Contribution of allelic imbalance to colorectal cancer.

Palin K et al.

Nature Communications, 2018

30202008 (PubMed )
Supplement: 41467_2018_6132_MOESM11_ESM.xlsx › Somatic_mutations_in_234_MSS_CR

Copy number signatures and mutational processes in ovarian carcinoma.

Macintyre G et al.

Nature Genetics, 2018

30104763 (PubMed )
Supplement: NIHMS78219-supplement-3.xlsx › mutated_cases
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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."