Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.P27delFs
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TP53

NM_000546.6:p.P27delFs

Associated Papers

Clinical classification and molecular interpretation of germline pathogenic TP53 variations detected by multigene panel testing in patients with possible cancer predisposition.

Onder G et al.

Molecular Genetics and Genomics : Mgg, 2025

Deciphering lung adenocarcinoma evolution and the role of LINE-1 retrotransposition.

Zhang T et al.

Biorxiv : the Preprint Server for Biology, 2025

40161734 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_4

DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.

Tan S et al.

Cancer, 2025

39876053 (PubMed )
Supplement: supplement_1.pdf

Utilizing TP53 hotspot mutations as effective predictors of gemcitabine treatment outcome in non-small-cell lung cancer.

Tseng YH et al.

Cell Death Discovery, 2025

39870629 (PubMed )
Supplement: 41420_2025_2300_MOESM2_ESM.xlsx › Supplement_table_2

Interpretation of ambiguous TP53 test results: Mosaicism, clonal hematopoiesis, and variants of uncertain significance.

Berry DK et al.

Journal of Genetic Counseling, 2024

Bioinformatic Identification of TP53 Gene Mutation Hotspots in Colorectal Cancer.

Kovács Z et al.

International Journal of Molecular Sciences, 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

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

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

Clinical utility of liquid biopsy and integrative genomic profiling in early-stage and oligometastatic cancer patients treated with radiotherapy.

Cifuentes GA et al.

British Journal of Cancer, 2023

36550207 (PubMed )
Supplement: 41416_2022_2102_MOESM5_ESM.xlsx › Supplementary_table_2

The microtubule inhibitor eribulin demonstrates efficacy in platinum-resistant and refractory high-grade serous ovarian cancer patient-derived xenograft models.

Ho GY et al.

Therapeutic Advances in Medical Oncology, 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

Advantages and Limitations of Monitoring Circulating Tumor DNA Levels to Predict the Prognosis of Patients Diagnosed With Gastric Cancer.

He W et al.

Biomarker Insights, 2022

36533271 (PubMed )
Supplement: sj-xlsx-2-bmi-10.1177_11772719221141525.xlsx › mutation_list_of_the_former_22_

Genomic profile of advanced breast cancer in circulating tumour DNA.

Kingston B et al.

Nature Communications, 2021

33893289 (PubMed )
Supplement: 41467_2021_22605_MOESM4_ESM.xlsx › SNVs_Indels

Plasma Circulating Tumor DNA Sequencing Predicts Minimal Residual Disease in Resectable Esophageal Squamous Cell Carcinoma.

Liu T et al.

Frontiers in Oncology, 2021

34094900 (PubMed )
Supplement: DataSheet_1.xlsx › Table_S3

Molecular profiling identifies synchronous endometrial and ovarian cancers as metastatic endometrial cancer with favorable clinical outcome.

Reijnen C et al.

International Journal of Cancer, 2020

32022266 (PubMed )
Supplement: IJC-147-478-s001.pdf

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

McCabe MJ et al.

Scientific Reports, 2019

31745186 (PubMed )
Supplement: 41598_2019_52000_MOESM2_ESM.xlsx › Sheet1

Genomic Profiling of KRAS/NRAS/BRAF/PIK3CA Wild-Type Metastatic Colorectal Cancer Patients Reveals Novel Mutations in Genes Potentially Associated with Resistance to Anti-EGFR Agents.

Rachiglio AM et al.

Cancers, 2019

31226844 (PubMed )
Supplement: cancers-11-00859-s001.pdf

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

Design and MinION testing of a nanopore targeted gene sequencing panel for chronic lymphocytic leukemia.

Orsini P et al.

Scientific Reports, 2018

30087429 (PubMed )
Supplement: 41598_2018_30330_MOESM3_ESM.xlsx › recurrent_mutations

Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark.

Stoltze U et al.

Plos One, 2018

Favorable impact of allogeneic stem cell transplantation in patients with therapy-related myelodysplasia regardless of TP53 mutational status.

Aldoss I et al.

Haematologica, 2017

28971906 (PubMed )
Supplement: 2017.172544.ALDOSS_SUPPL.pdf

TP53 mutations in de novo acute myeloid leukemia patients: longitudinal follow-ups show the mutation is stable during disease evolution.

Hou HA et al.

Blood Cancer Journal, 2015

Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.

Yu J et al.

Gut, 2015

24951259 (PubMed )
Supplement: gutjnl-2013-306620-s14.pdf

Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.

Chou JY et al.

Human Mutation, 2008

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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."