Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.Y205*
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TP53

NM_000546.6:p.Y205*

Associated Papers

Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.

Brown JR et al.

Blood, 2026

41055698 (PubMed )
Supplement: BLOOD_BLD-2024-027009-mmc5.xlsx › Sheet_1

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

A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.

Galbo PM et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40158885 (PubMed )
Supplement: mmc8.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

Homologous recombination repair status in metastatic prostate cancer by next-generation sequencing and functional immunofluorescence.

Arce-Gallego S et al.

Cell Reports. Medicine, 2025

39914385 (PubMed )
Supplement: mmc1.pdf

The impact of mutations on TP53 protein and MicroRNA expression in HNSCC: Novel insights for diagnostic and therapeutic strategies.

Mahmoud AA et al.

Plos One, 2025

40333905 (PubMed )
Supplement: pone.0307859.s001.xlsx › Sheet10

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 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

p53 Dysregulation in Breast Cancer: Insights on Mutations in the TP53 Network and p53 Isoform Expression.

Steffens Reinhardt L et al.

International Journal of Molecular Sciences, 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

Actionable Molecular Alterations Are Revealed in Majority of Advanced Non-Small Cell Lung Cancer Patients by Genomic Tumor Profiling at Progression after First Line Treatment.

Frank MS et al.

Cancers, 2021

35008297 (PubMed )
Supplement: cancers-14-00132-s001.zip › Supplementary_Table_S1.xlsx › Overview_ver2

Somatic mutation profiles as molecular classifiers of ulcerative colitis-associated colorectal cancer.

Mäki-Nevala S et al.

International Journal of Cancer, 2021

TP53 Targeted Deep Sequencing of Cell-Free DNA in Esophageal Squamous Cell Carcinoma Using Low-Quality Serum: Concordance with Tumor Mutation.

Nasrollahzadeh D et al.

International Journal of Molecular Sciences, 2021

Genomic Database Analysis of Uterine Leiomyosarcoma Mutational Profile.

Astolfi A et al.

Cancers, 2020

32751892 (PubMed )
Supplement: cancers-12-02126-s001.zip › cancers-864725-supple › cancers-864725-supple-proofed.xlsx › Table_S2

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

Shi M et al.

Annals of Translational Medicine, 2020

Next-Generation Sequencing Improves Diagnosis, Prognosis and Clinical Management of Myeloid Neoplasms.

Carbonell D et al.

Cancers, 2019

31540291 (PubMed )
Supplement: cancers-11-01364-s001.zip › cancers-588721-SI.pdf

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

Comprehensive assay for the molecular profiling of cancer by target enrichment from formalin-fixed paraffin-embedded specimens.

Kohsaka S et al.

Cancer Science, 2019

30737998 (PubMed )
Supplement: CAS-110-1464-s005.xlsx › Table_S4

Regulation of the interferon-gamma (IFN-γ) pathway by p63 and Δ133p53 isoform in different breast cancer subtypes.

Mehta SY et al.

Oncotarget, 2018

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Rectum

Analytic validation and real-time clinical application of an amplicon-based targeted gene panel for advanced cancer.

Wing MR et al.

Oncotarget, 2017

29100271 (PubMed )
Supplement: oncotarget-08-75822-s008.xlsx › S7._167_patients

Identification of Circulating Tumor DNA for the Early Detection of Small-cell Lung Cancer.

Fernandez-Cuesta L et al.

Ebiomedicine, 2016

27377626 (PubMed )
Supplement: mmc1.pdf

Targeted deep sequencing of mucinous ovarian tumors reveals multiple overlapping RAS-pathway activating mutations in borderline and cancerous neoplasms.

Mackenzie R et al.

Bmc Cancer, 2015

25986173 (PubMed )
Supplement: 12885_2015_1421_MOESM1_ESM.xls › Sheet1

Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.

Siroy AE et al.

The Journal of Investigative Dermatology, 2015

25148578 (PubMed )
Supplement: NIHMS622327-supplement-supplement_1.pdf

DNA sequence profiles of the colorectal cancer critical gene set KRAS-BRAF-PIK3CA-PTEN-TP53 related to age at disease onset.

Berg M et al.

Plos One, 2010

21103049 (PubMed )
Supplement: pone.0013978.s002.xls › Table_S2

Molecular characterization of commonly used cell lines for bone tumor research: a trans-European EuroBoNet effort.

Ottaviano L et al.

Genes, Chromosomes & Cancer, 2010

Mutations to nonsense codons in human genetic disease: implications for gene therapy by nonsense suppressor tRNAs.

Atkinson J et al.

Nucleic Acids Research, 1994

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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."