Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.E62*
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TP53

NM_000546.6:p.E62*

Associated Papers

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

Establishment and molecular profiling of a PDX model of a metachronous brain tumor in a patient with constitutional mismatch repair deficiency with biallelic MSH6 variant.

Moreno DA et al.

Animal Models and Experimental Medicine, 2025

Hematologic Malignancy Frequency, Phenotypes, and Outcomes in Li-Fraumeni Syndrome.

Vagher J et al.

Jco Precision Oncology, 2025

40540701 (PubMed )
Supplement: DS2_PO-24-00860.xlsx › Supp_Table_2

The spectrum of hematologic neoplasms in patients with Li-Fraumeni syndrome.

Dimopoulos YP et al.

American Journal of Hematology, 2024

Exploring Genomic Biomarkers for Pembrolizumab Response: A Real-World Approach and Patient Similarity Network Analysis Reveal DNA Response and Repair Gene Mutations as a Signature.

Filetti M et al.

Cancers, 2024

39682144 (PubMed )
Supplement: cancers-16-03955-s001.zip › Table_S4.xlsx › Table_S4

Multidrug-Resistant Profiles in Non-Small Cell Lung Carcinoma Patient-Derived Cells: Implications for Personalized Approaches with Tyrosine Kinase Inhibitors.

Dinić J et al.

Cancers, 2024

38893104 (PubMed )
Supplement: cancers-16-01984-s001.zip › cancers-3008579-supplementary.pdf

The TP53-activated E3 ligase RNF144B is a tumour suppressor that prevents genomic instability.

Abad E et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2024

38685100 (PubMed )
Supplement: 13046_2024_3045_MOESM2_ESM.xlsx › Patient_p53_mutated_samples

Comparison of TP53 mutations in myelodysplasia and acute leukemia suggests divergent roles in initiation and progression.

Jambhekar A et al.

Blood Neoplasia, 2024

40453522 (PubMed )
Supplement: BNEO_NEO-2023-000115-mmc1.xlsx › MDS

Prospective clinical sequencing of 1016 Chinese prostate cancer patients: uncovering genomic characterization and race disparity.

Wei Y et al.

Molecular Oncology, 2023

37584393 (PubMed )
Supplement: MOL2-17-2183-s002.xlsx › Table_S6

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

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_S4

Development and validation of blood tumor mutational burden reference standards.

Raiber-Moreau EA et al.

Genes, Chromosomes & Cancer, 2023

Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Vormittag-Nocito E et al.

Cancer Medicine, 2023

36125633 (PubMed )
Supplement: CAM4-12-4042-s001.xlsx › Sheet1

p53 null phenotype is a "positive result" in urothelial carcinoma in situ.

Sangoi AR et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST3_Known_Somatic_Variants

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

Targeting de novo lipogenesis and the Lands cycle induces ferroptosis in KRAS-mutant lung cancer.

Bartolacci C et al.

Nature Communications, 2022

35882862 (PubMed )
Supplement: 41467_2022_31963_MOESM13_ESM.xlsx › Sheet1

Landscape of somatic alterations in large-scale solid tumors from an Asian population.

Wu L et al.

Nature Communications, 2022

35871175 (PubMed )
Supplement: 41467_2022_31780_MOESM6_ESM.xlsx › Supplementary_Data_4

Ovarian germ cell tumor/mastocytosis with KIT mutation: A unique clinicopathological entity.

Xiao P et al.

Genes, Chromosomes & Cancer, 2022

Clinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws.

Shi R et al.

Molecular Genetics & Genomic Medicine, 2022

Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.

Lee Y et al.

Cancer Research and Treatment, 2021

32810930 (PubMed )
Supplement: crt-2020-559-suppl3.pdf

Mutational Profile and Clonal Evolution of Relapsed/Refractory Diffuse Large B-Cell Lymphoma.

Lee B et al.

Frontiers in Oncology, 2021

33777778 (PubMed )
Supplement: DataSheet_1.xlsx › Supplementary_Data_Set_1

An aggressive systemic mastocytosis preceded by ovarian dysgerminoma.

Tsutsumi M et al.

Bmc Cancer, 2020

Functionally impactful TP53 mutations are associated with increased risk of extranodal extension in clinically advanced oral squamous cell carcinoma.

Gleber-Netto FO et al.

Cancer, 2020

A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome.

Gao F et al.

Genome Research, 2020

32817165 (PubMed )
Supplement: supp_gr.249599.119_Supplementary_Table_S10.xlsx › FMs_in_discovery_set

SMARCA4 deficiency-associated heterochromatin induces intrinsic DNA replication stress and susceptibility to ATR inhibition in lung adenocarcinoma.

Kurashima K et al.

Nar Cancer, 2020

34316685 (PubMed )
Supplement: narcancer_2_2_zcaa005_s8.pdf

Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania 'Luigi Vanvitelli'.

De Falco V et al.

Esmo Open, 2020

32234730 (PubMed )
Supplement: esmoopen-2020-000675supp003.pdf

A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

Nassar AH et al.

British Journal of Cancer, 2020

31857723 (PubMed )
Supplement: 41416_2019_686_MOESM1_ESM.xlsx › S2.2_Overall_SNV_small_indels

Hematologic malignancies and Li-Fraumeni syndrome.

Swaminathan M et al.

Cold Spring Harbor Molecular Case Studies, 2019

Prevalence and timing of TP53 mutations in del(17p) myeloma and effect on survival.

Chin M et al.

Blood Cancer Journal, 2017

Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.

Pentsova EI et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2016

27161972 (PubMed )
Supplement: supp_JCO.2016.66.6487_DS_2016.666487.xlsx › SNV__Indels

Clinical evaluation of panel testing by next-generation sequencing (NGS) for gene mutations in myeloid neoplasms.

Au CH et al.

Diagnostic Pathology, 2016

CD47 agonist peptides induce programmed cell death in refractory chronic lymphocytic leukemia B cells via PLCγ1 activation: evidence from mice and humans.

Martinez-Torres AC et al.

Plos Medicine, 2015

Early onset HER2-positive breast cancer is associated with germline TP53 mutations.

Melhem-Bertrandt A et al.

Cancer, 2012

Monoallelic TP53 inactivation is associated with poor prognosis in chronic lymphocytic leukemia: results from a detailed genetic characterization with long-term follow-up.

Zenz T et al.

Blood, 2008

Epidermal growth factor receptor mutation in lung cancer are linked to bronchioloalveolar differentiation.

Blons H et al.

The American Journal of Surgical Pathology, 2006

Mutational analysis of TP53 and p21 in familial and sporadic ovarian cancer in Japan.

Amikura T et al.

Gynecologic Oncology, 2006

Mutational analysis of BRCA1 and BRCA2 and clinicopathologic analysis of ovarian cancer in 82 ovarian cancer families: two common founder mutations of BRCA1 in Japanese population.

Sekine M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2001

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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."