Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.C275*
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TP53

NM_000546.6:p.C275*

Associated Papers

PRIME: an interpretable artificial intelligence model based on liquid biopsy improves prediction of progression risk in non-small cell lung cancer.

Wang Y et al.

Military Medical Research, 2026

41491583 (PubMed )
Supplement: 40779_2025_679_MOESM1_ESM.xlsx › Table_S8

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1

Personalized screening strategies for TP53 R337H carriers: a retrospective cohort study of tumor spectrum in Li-Fraumeni syndrome adult carriers.

Galante PAF et al.

Lancet Regional Health. Americas, 2025

39895904 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Skin Cancer Risk Is Increased by Somatic Mutations Detected Noninvasively in Healthy-Appearing Sun-Exposed Skin.

Kaur K et al.

The Journal of Investigative Dermatology, 2024

Cell-free DNA from germline TP53 mutation carriers reflect cancer-like fragmentation patterns.

Wong D et al.

Nature Communications, 2024

Genetic Testing of Breast Cancer Patients with Very Early-Onset Breast Cancer (≤30 Years) Yields a High Rate of Germline Pathogenic Variants, Mainly in the BRCA1, TP53, and BRCA2 Genes.

Apostolou P et al.

Cancers, 2024

39001430 (PubMed )
Supplement: cancers-16-02368-s001.zip › cancers-3067616-supplementary.pdf

Current prospects of hereditary adrenal tumors: towards better clinical management.

Ohmoto A et al.

Hereditary Cancer in Clinical Practice, 2024

Early Cancer Detection in Li-Fraumeni Syndrome with Cell-Free DNA.

Wong D et al.

Cancer Discovery, 2024

37874259 (PubMed )
Supplement: cd-23-0456_table_s2_suppst2.xlsx › Sheet1

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

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

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

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

Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set: An International Agency for Research on Cancer TP53 Database Analysis.

Kratz CP et al.

Jama Oncology, 2021

Identification of Novel Alectinib-Resistant ALK Mutation G1202K with Sensitization to Lorlatinib: A Case Report and in silico Structural Modelling.

Yang P et al.

Oncotargets and Therapy, 2021

A common polymorphism in the retinoic acid pathway modifies adrenocortical carcinoma age-dependent incidence.

Surakhy M et al.

British Journal of Cancer, 2020

32147670 (PubMed )
Supplement: 41416_2020_764_MOESM1_ESM.docx

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

Shi M et al.

Annals of Translational Medicine, 2020

Identification of Altered Genes in Gallbladder Cancer as Potential Driver Mutations for Diagnostic and Prognostic Purposes: A Computational Approach.

D'Afonseca V et al.

Cancer Informatics, 2020

Genetic evaluation based on family history and Her2 status correctly identifies TP53 mutations in very early onset breast cancer cases.

Fostira F et al.

Clinical Genetics, 2015

Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Dulak AM et al.

Nature Genetics, 2013

23525077 (PubMed )
Supplement: NIHMS474888-supplement-1.pdf

High frequency of de novo mutations in Li-Fraumeni syndrome.

Gonzalez KD et al.

Journal of Medical Genetics, 2009

Low rates of somatic p53 mutations in keratoacanthomas.

Suk JD et al.

Journal of Dermatological Science, 2009

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