Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.P152L
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TP53

NM_000546.6:p.P152L

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Correlation between P53 immunohistochemical staining and TP53 molecular testing in endometrial carcinomas: a detailed assessment of discrepant cases with implications for patient management.

Machuca-Aguado J et al.

Histopathology, 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

A framework for the molecular identification of CHIP for clinical research.

Harraka P et al.

Hgg Advances, 2026

41566785 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Acquired on-target alterations drive clinical resistance to p53-Y220C reactivators.

Fece de la Cruz F et al.

Cancer Discovery, 2026

Systematic evaluation of neoepitope predictions challenges clinically observed T-cell responses and their impact on immune evasion.

Zaghla BKQ et al.

Journal for Immunotherapy of Cancer, 2026

Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.

Brown JR et al.

Blood, 2026

41055698 (PubMed )
Supplement: BLOOD_BLD-2024-027009-mmc5.xlsx › Sheet_1

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

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

Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.

Yang W et al.

Journal of Translational Medicine, 2025

41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1

Blood-Based Genomic Alteration Signature for Predicting Progression-Free Survival in De Novo Metastatic Hormone-Sensitive Prostate Cancer: A Real-World Study.

Wang R et al.

Cancer Research Communications, 2025

41217768 (PubMed )
Supplement: crc-25-0384_supplementary_table_s2_suppst2.xlsx › Supplementary_Table_2

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

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3A

Phenotypical mapping of TP53 unique missense mutations spectrum in human cancers.

Malhotra L et al.

Journal of Biomolecular Structure & Dynamics, 2025

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

Takeda T et al.

Cancer Science, 2025

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM6_ESM.xlsx › clinvar_annotation

Systematic characterization of full-length RNA isoforms in human colorectal cancer at single-cell resolution.

Lu P et al.

Protein & Cell, 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

TP53 p.R181H is enriched in the Swedish cohort (SWEP53) and associated with a distinct breast and prostate phenotype.

Sun Zhang A et al.

Scientific Reports, 2025

41057495 (PubMed )
Supplement: 41598_2025_22407_MOESM1_ESM.docx

Radiotherapy results in decreased time to second cancer in children with Li Fraumeni syndrome.

Woodward ER et al.

Journal of the National Cancer Institute, 2025

Genomic alterations in pancreatic cystic neoplasms: from molecular characterization to precision clinical management.

Yang S et al.

International Journal of Surgery (london, England), 2025

Comprehensive genetic profiling using tissue and blood in locally advanced tumors.

Fujiyoshi K et al.

Oncology Reports, 2025

Comparative molecular analysis of primary and recurrent pleomorphic xanthoastrocytoma with BRAF mutation treated with combination therapy with dabrafenib and trametinib: a case report and literature review.

Tateoka S et al.

International Cancer Conference Journal, 2025

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_MOESM4_ESM.xlsx › S_Table_1__maxwell_dataset_

Evaluation of whole-body MRI for cancer early detection in Li-Fraumeni syndrome.

Sodde P et al.

Journal of Medical Genetics, 2025

Li Fraumeni syndrome in the UK: clinical characteristics and outcomes of TP53 carriers.

Finn E et al.

Esmo Open, 2025

eIF5A and hypusination-related disorders: literature review and case report of DOHH-related encephalopathy.

Beltrán-Corbellini Á et al.

Journal of Neurodevelopmental Disorders, 2025

MutationAssessor in cBioPortal.

Su Y et al.

Biorxiv : the Preprint Server for Biology, 2025

40832239 (PubMed )
Supplement: media-1.pdf

A long-term glioblastoma survivor with Lynch syndrome: a case report of tumor molecular and microenvironment characterization.

Zhou Y et al.

Discover Oncology, 2025

Towards Personalized Precision Oncology: A Feasibility Study of NGS-Based Variant Analysis of FFPE CRC Samples in a Chilean Public Health System Laboratory.

Durán-Jara E et al.

Current Issues in Molecular Biology, 2025

Clinical Significance of TP53-Mutant Clonal Hematopoiesis Across Diseases.

Usui Y et al.

Blood Cancer Discovery, 2025

40525786 (PubMed )
Supplement: bcd-24-0355_table_s2_suppst2.xlsx › Sheet1

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

Automated and Decentralized Genomic Profiling of Plasma Cell-Free DNA for Identification of Targetable and Resistance Alterations in Advanced Solid Tumors.

Chan HT et al.

Clinical Chemistry, 2025

40320741 (PubMed )
Supplement: hvaf045_supplementary_data.zip › Supplementary_tables_revision4.pdf

Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.

Jha P et al.

The Journal of Liquid Biopsy, 2025

40503459 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2

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_1

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Munch AK et al.

Cancers, 2025

40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf

Performance Comparison of Droplet Digital PCR and Next-Generation Sequencing for Circulating Tumor DNA Detection in Non-Metastatic Rectal Cancer.

Szeto S et al.

Cancer Medicine, 2025

40346007 (PubMed )
Supplement: CAM4-14-e70943-s001.docx

Genomic landscape of pathogenic mutations in Pakistani population with late-stage colorectal cancer.

Ansar Z et al.

Pakistan Journal of Medical Sciences, 2025

Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.

Bates BA et al.

Hgg Advances, 2025

39799398 (PubMed )
Supplement: mmc2.xlsx › variantCounts

The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.

Torrens L et al.

Nature Genetics, 2025

40164736 (PubMed )
Supplement: 41588_2025_2134_MOESM4_ESM.xlsx › Supplementary_Table_15

Amivantamab as a salvage therapy post-EGFR-tyrosine kinase inhibitor failure in patients with mutated EGFR non-small cell lung cancer.

Krayim B et al.

Translational Lung Cancer Research, 2025

Combined BRAF G469A mutation and echinoderm microtubule associated protein like-4-anaplastic lymphoma kinase rearrangement with resistance: A case report and review of literature.

Guo X et al.

World Journal of Clinical Oncology, 2025

MDM2 inhibition is associated with the emergence of TP53-altered clonal hematopoiesis.

Khanna V et al.

Npj Precision Oncology, 2025

39900989 (PubMed )
Supplement: 41698_2025_823_MOESM1_ESM.pdf

In Silico Screening, Molecular Dynamics Simulation and Binding Free Energy Identify Single-Point Mutations That Destabilize p53 and Reduce Binding to DNA.

Islam SM et al.

Proteins, 2025

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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."