Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.E11Q
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TP53

NM_000546.6:p.E11Q

Associated Papers

Molecular and histopathological insights into renal neuroendocrine tumors (RenNETs): A comprehensive study.

Zhang K et al.

Pathology, Research and Practice, 2026

TP53 mutation heterogeneity reveals distinct prognoses in mantle cell lymphoma.

Liu S et al.

Annals of Hematology, 2026

41559357 (PubMed )
Supplement: 277_2026_6771_MOESM2_ESM.xlsx › TableS3

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

Computational prediction of human genetic variants in the mouse genome.

Dong K et al.

Nature Biotechnology, 2025

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

Impact of TP53, KRAS, and APC Mutations on Neoadjuvant Chemotherapy Outcomes in Locally Advanced Rectal Cancer.

Takeda T et al.

Cancer Science, 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

Discovery of Novel RASGRF2 Fusions as a Therapeutic Target in Lung Adenocarcinoma of Never or Light Smokers.

Terashima Y et al.

Cancer Science, 2025

40734624 (PubMed )
Supplement: CAS-116-2868-s002.xlsx › Table_S5

TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.

Fischer NW et al.

Nature Communications, 2025

41022739 (PubMed )
Supplement: 41467_2025_63528_MOESM7_ESM.xlsx › Sheet1

GnomAD Missense Variants of Uncertain Significance: Implications for p53 Stability and Phosphorylation.

García-Ayala FD et al.

International Journal of Molecular Sciences, 2025

Clinical Implications of Circulating Tumor DNA in Multiple Myeloma and Its Precursor Diseases.

Park SS et al.

Annals of Laboratory Medicine, 2025

40017228 (PubMed )
Supplement: alm-45-3-279-supple2.xlsx › Table_S3

Multi-gene panel sequencing reveals the relationship between driver gene mutation and clinical characteristics in lung adenocarcinoma.

Li J et al.

Discover Oncology, 2025

40053265 (PubMed )
Supplement: 12672_2025_2008_MOESM1_ESM.xlsx › Table_S2

TP53 Mutation Status in Myelodysplastic Neoplasm and Acute Myeloid Leukemia: Impact of Reclassification Based on the 5th WHO and International Consensus Classification Criteria: A Korean Multicenter Study.

Kim HY et al.

Annals of Laboratory Medicine, 2025

39497415 (PubMed )
Supplement: alm-45-2-160-supple.pdf

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

Prevalence of germline variants in Brazilian pancreatic carcinoma patients.

Rodrigues LM et al.

Scientific Reports, 2024

39256447 (PubMed )
Supplement: 41598_2024_71884_MOESM1_ESM.docx

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

Targeting WEE1 enhances the antitumor effect of KRAS-mutated non-small cell lung cancer harboring TP53 mutations.

Fukuda K et al.

Cell Reports. Medicine, 2024

Distinct genomic and immunologic tumor evolution in germline TP53-driven breast cancers.

Boruah N et al.

Biorxiv : the Preprint Server for Biology, 2024

38617260 (PubMed )
Supplement: media-2.xlsx › S3

Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.

Shiota M et al.

Bjc Reports, 2024

39516321 (PubMed )
Supplement: 44276_2024_49_MOESM4_ESM.xlsx › supplementary_table_2

Identification of Potential Genomic Alterations Using Pan-Cancer Cell-Free DNA Next-Generation Sequencing in Patients With Gastric Cancer.

Kim B et al.

Annals of Laboratory Medicine, 2024

37903652 (PubMed )
Supplement: alm-44-2-164-supple1.xlsx › Assay_A

Molecular and clinicopathological features of KIT/PDGFRA wild-type gastrointestinal stromal tumors.

Nishida T et al.

Cancer Science, 2024

The development of a custom RNA-sequencing panel for the identification of predictive and diagnostic biomarkers in glioma.

Shirai Y et al.

Journal of Neuro-oncology, 2024

38363490 (PubMed )
Supplement: 11060_2024_4563_MOESM1_ESM.xlsx › Supplementary_Data_2

Loss-of-Function but Not Gain-of-Function Properties of Mutant TP53 Are Critical for the Proliferation, Survival, and Metastasis of a Broad Range of Cancer Cells.

Wang Z et al.

Cancer Discovery, 2024

37877779 (PubMed )
Supplement: cd-23-0402_supplementary_data_table_s4_suppst4.xls › mutant

Emerging insights into ethnic-specific TP53 germline variants.

Fischer NW et al.

Journal of the National Cancer Institute, 2023

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc1.pdf

Understanding WT1 Alterations and Expression Profiles in Hematological Malignancies.

Niktoreh N et al.

Cancers, 2023

37444601 (PubMed )
Supplement: cancers-15-03491-s001.zip › cancers-2411712-supplementary.pdf

Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Kage H et al.

Cancer Science, 2023

36601953 (PubMed )
Supplement: CAS-114-1710-s001.xlsx › Sup_Table_3

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

Common activities and predictive gene signature identified for genetic hypomorphs of TP53.

Leung JC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Somatic mutations of activating signalling, transcription factor, and tumour suppressor are a precondition for leukaemia transformation in myelodysplastic syndromes.

Xu F et al.

Journal of Cellular and Molecular Medicine, 2022

PIK3CA mutations associated with a poor postoperative prognosis in patients with pulmonary pleomorphic carcinoma: a retrospective cohort study.

Kojima K et al.

Bmc Cancer, 2022

36243681 (PubMed )
Supplement: 12885_2022_10176_MOESM1_ESM.xlsx › Sheet1

Benign SNPs in the Coding Region of TP53: Finding the Needles in a Haystack of Pathogenic Variants.

Soussi T

Cancer Research, 2022

Gene polymorphisms in odontogenic keratocysts and ameloblastomas: A systematic review.

Andric M et al.

Oral Diseases, 2022

Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.

Omura T et al.

Cancers, 2022

35626060 (PubMed )
Supplement: cancers-14-02454-s001.zip › cancers-1674301-SI.xlsx › gene_aberrations

Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Kasugai Y et al.

Cancer Science, 2022

35218119 (PubMed )
Supplement: CAS-113-1451-s002.xlsx › Table_S1

TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.

Ben-Cohen G et al.

Briefings in Bioinformatics, 2022

Association of Epidermal Growth Factor 61A>G, Survivin -31G>C, and EFNA1 -1732G>A Polymorphisms with Susceptibility to Colorectal Cancer.

Asadian F et al.

Journal of Gastrointestinal Cancer, 2022

Mouse model and human patient data reveal critical roles for Pten and p53 in suppressing POLE mutant tumor development.

Park VS et al.

Nar Cancer, 2022

35252866 (PubMed )
Supplement: zcac004_supplemental_file.xlsx › Supp_Table_4

Landscape of TP53 Alterations in Chronic Lymphocytic Leukemia via Data Mining Mutation Databases.

Soussi T et al.

Frontiers in Oncology, 2022

Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Aoyagi Y et al.

Plos One, 2022

35358259 (PubMed )
Supplement: pone.0266112.s001.xlsx › Patients

Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

G V et al.

Frontiers in Genetics, 2022

36561320 (PubMed )
Supplement: Table2.xlsx › TP53

Oral cancer among Khat users: finding evidence from DNA analysis of nine cancer-related gene mutations.

Alshahrani SA et al.

Bmc Oral Health, 2021

Genetic heterogeneity during breast cancer progression in young patients.

Hagio K et al.

Breast (edinburgh, Scotland), 2021

In search of TP53 mutational hot spots for Li-Fraumeni syndrome in Asian populations.

Lo Piccolo L et al.

Tropical Medicine & International Health : Tm & Ih, 2021

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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."