Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.S227_D228insFs
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TP53

NM_000546.6:p.S227_D228insFs

Associated Papers

Tumor-informed circulating tumor DNA detection for personalized monitoring of treatment response in epithelial ovarian cancer.

Kang SW et al.

Practical Laboratory Medicine, 2025

Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.

Scollon S et al.

Jco Precision Oncology, 2025

41166674 (PubMed )
Supplement: po-9-e2500742-s001.pdf

An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.

Szafron LA et al.

International Journal of Molecular Sciences, 2024

39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › 44.genes.NON-SNP_all_variants

Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.

Mitchell OD et al.

Jama Network Open, 2023

37556141 (PubMed )
Supplement: jamanetwopen-e2327351-s001.pdf

Combined Tumor-Based BRCA1/2 and TP53 Mutation Testing in Ovarian Cancer.

Borcoman E et al.

International Journal of Molecular Sciences, 2023

37511329 (PubMed )
Supplement: ijms-24-11570-s001.zip › ijms-2309018-supplementary.pdf

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

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

Application of mTORC1 Inhibitors for Tissue-Agnostic Management of Standard-Therapy-Refractory Solid Tumors.

Taghizadeh H et al.

Cancers, 2022

Clinical Impact of Prospective Whole Genome Sequencing in Sarcoma Patients.

Schipper LJ et al.

Cancers, 2022

35053600 (PubMed )
Supplement: cancers-14-00436-s001.zip › Supplementary_data_-_Detailed_genomic_information_per_sample.xlsx › SNVs__MNVs__indels

Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Akolkar D et al.

Plos One, 2021

33556149 (PubMed )
Supplement: pone.0246048.s008.xlsx › Sheet1

Targeted Next-Generation Sequencing Combined With Circulating-Free DNA Deciphers Spatial Heterogeneity of Resected Multifocal Hepatocellular Carcinoma.

Lin J et al.

Frontiers in Immunology, 2021

34211467 (PubMed )
Supplement: Table_1.xlsx › TableS2

The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.

Andrikopoulou A et al.

Frontiers in Oncology, 2021

p53 is associated with high-risk and pinpoints TP53 missense mutations in mantle cell lymphoma.

Rodrigues JM et al.

British Journal of Haematology, 2020

32748433 (PubMed )
Supplement: BJH-191-796-s003.pdf

Malignant tumours of the uterus and ovaries with Mullerian and germ cell or trophoblastic components have a somatic origin and are characterised by genomic instability.

Acosta AM et al.

Histopathology, 2020

Heterogeneous mutation pattern in tumor tissue and circulating tumor DNA warrants parallel NGS panel testing.

Guo Q et al.

Molecular Cancer, 2018

30153823 (PubMed )
Supplement: 12943_2018_875_MOESM3_ESM.xlsx › Table_S2_ctDNA_Alterations

Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.

Renaux-Petel M et al.

Journal of Medical Genetics, 2018

Complex analysis of the TP53 tumor suppressor in mantle cell and diffuse large B-cell lymphomas.

Zlamalikova L et al.

Oncology Reports, 2017

Assessing mutant p53 in primary high-grade serous ovarian cancer using immunohistochemistry and massively parallel sequencing.

Cole AJ et al.

Scientific Reports, 2016

27189670 (PubMed )
Supplement: srep26191-s1.pdf

Preexisting TP53 mutation in therapy-related acute myeloid leukemia.

Schulz E et al.

Annals of Hematology, 2015

25135451 (PubMed )
Supplement: 277_2014_2191_MOESM1_ESM.pdf

Heterogeneity in the clinical phenotype of TP53 mutations in breast cancer patients.

Alsner J et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2000

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