Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.P27L
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TP53

NM_000546.6:p.P27L

Associated Papers

Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome.

Montellier E et al.

Ebiomedicine, 2026

41370968 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Genomic alterations linked to recurrence risk in high-grade serous ovarian cancer revealed by deep targeted sequencing.

Park YH et al.

Scientific Reports, 2025

41413429 (PubMed )
Supplement: 41598_2025_26481_MOESM2_ESM.xlsx › Supplementary_Table_S2

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_S3

Genetic evolution of keratinocytes to cutaneous squamous cell carcinoma.

Tandukar B et al.

Nature Communications, 2025

41309580 (PubMed )
Supplement: 41467_2025_65687_MOESM9_ESM.xlsx › TableS5

Phenotypical mapping of TP53 unique missense mutations spectrum in human cancers.

Malhotra L et al.

Journal of Biomolecular Structure & Dynamics, 2025

A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.

Fortuno C et al.

Genome Medicine, 2025

41126324 (PubMed )
Supplement: 13073_2025_1536_MOESM2_ESM.xlsx › Table_S2

Comprehensive Genomic Profiles of Melanoma in Veterans Compared to Reference Databases.

Mettman D et al.

Federal Practitioner : for the Health Care Professionals of the Va, Dod, and Phs, 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 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact.

Canson DM et al.

Npj Genomic Medicine, 2025

40341019 (PubMed )
Supplement: 41525_2025_498_MOESM2_ESM.xlsx › Data_S2

Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.

Montellier E et al.

Iscience, 2024

39634561 (PubMed )
Supplement: mmc2.xlsx › TableS1

The theory of massively repeated evolution and full identifications of cancer-driving nucleotides (CDNs).

Zhang L et al.

Elife, 2024

39688960 (PubMed )
Supplement: elife-99340-supp1.xlsx › CDN.Missense.gnomad

Genetic evolution of keratinocytes to cutaneous squamous cell carcinoma.

Tandukar B et al.

Biorxiv : the Preprint Server for Biology, 2024

39091884 (PubMed )
Supplement: media-5.xlsx › TableS5

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

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

Khalil SS et al.

Cureus, 2024

Low-burden TP53 mutations represent frequent genetic events in CLL with an increased risk for treatment initiation.

László T et al.

The Journal of Pathology. Clinical Research, 2024

37987115 (PubMed )
Supplement: CJP2-10-e351-s001.xlsx › Table_S2

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_S1

The role of next-generation sequencing in the examination of signaling genes in Brca1/2-negative breast cancer cases.

Cine N et al.

Annals of Human Genetics, 2023

Risk of ipsilateral breast tumor recurrence and contralateral breast cancer in patients with and without TP53 variant in a large series of breast cancer patients.

Guo Y et al.

Breast (edinburgh, Scotland), 2022

Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells.

Rouhani FJ et al.

Nature Genetics, 2022

35953586 (PubMed )
Supplement: 41588_2022_1147_MOESM4_ESM.xlsx › Table_S5_hipsci_cancermut_SNV

Mutational landscape of high-grade B-cell lymphoma with MYC-, BCL2 and/or BCL6 rearrangements characterized by whole-exome sequencing.

Künstner A et al.

Haematologica, 2022

34788985 (PubMed )
Supplement: 2021_279631_KUNSTNER_TABS6_SUPPL.xlsx › Variants_Panel

Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.

Metzenmacher M et al.

Translational Oncology, 2022

34800919 (PubMed )
Supplement: mmc3.xlsx › Tabelle1

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

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_3.xlsx › Sheet1

Clinicopathological and Genomic Profiles of Atypical Fibroxanthoma and Pleomorphic Dermal Sarcoma Identify Overlapping Signatures with a High Mutational Burden.

Ak M et al.

Genes, 2021

34202213 (PubMed )
Supplement: genes-12-00974-s001.zip › Supplemental_Table_S2_F1CDx_gene_alteration.xlsx › Tabelle1

Targeted Next-Generation Sequencing of Plasma Cell-Free DNA in Korean Patients with Hepatocellular Carcinoma.

Chae H et al.

Annals of Laboratory Medicine, 2021

Thrombotic Risk Detection in Patients with Polycythemia Vera: The Predictive Role of DNMT3A/TET2/ASXL1 Mutations.

Segura-Díaz A et al.

Cancers, 2020

32290079 (PubMed )
Supplement: cancers-12-00934-s001.pdf

Prevalence and clinical impact of TP53 germline mutations in Chinese women with breast cancer.

Sheng S et al.

International Journal of Cancer, 2020

Co-occurring Alterations in the RAS-MAPK Pathway Limit Response to MET Inhibitor Treatment in MET Exon 14 Skipping Mutation-Positive Lung Cancer.

Rotow JK et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020

ctDNA detected by ddPCR reveals changes in tumour load in metastatic malignant melanoma treated with bevacizumab.

Forthun RB et al.

Scientific Reports, 2019

31767937 (PubMed )
Supplement: 41598_2019_53917_MOESM2_ESM.xlsx › Supplementary_Table_1

Mutational processes shape the landscape of TP53 mutations in human cancer.

Giacomelli AO et al.

Nature Genetics, 2018

30224644 (PubMed )
Supplement: NIHMS1501645-supplement-3.xlsx › Sheet1

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

Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

Clark TA et al.

The Journal of Molecular Diagnostics : Jmd, 2018

29936259 (PubMed )
Supplement: mmc12.xlsx › Table_S12

Development of a highly sensitive liquid biopsy platform to detect clinically-relevant cancer mutations at low allele fractions in cell-free DNA.

Gale D et al.

Plos One, 2018

Expression signature based on TP53 target genes doesn't predict response to TP53-MDM2 inhibitor in wild type TP53 tumors.

Sonkin D

Elife, 2015

Prognostic signature and clonality pattern of recurrently mutated genes in inactive chronic lymphocytic leukemia.

Hurtado AM et al.

Blood Cancer Journal, 2015

26314984 (PubMed )
Supplement: bcj201565x1.xls › Hoja1

Clinical multiplexed exome sequencing distinguishes adult oligodendroglial neoplasms from astrocytic and mixed lineage gliomas.

Cryan JB et al.

Oncotarget, 2014

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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."