Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.S240G
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TP53

NM_000546.6:p.S240G

Associated Papers

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

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-mmc4.xlsx › Sheet_1

Ovarian Sertoli-Leydig cell tumors with heterologous rhabdomyosarcoma: Clinicopathologic features and molecular analysis highlighting recurrent genetic alterations.

Zou YS et al.

Histopathology, 2025

Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.

Allsopp RC et al.

Bmc Cancer, 2025

41351070 (PubMed )
Supplement: 12885_2025_15187_MOESM1_ESM.zip › Supp_Table_1.xlsx › Sheet1

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

High-throughput evaluation of genetic variants with prime editing sensor libraries.

Gould SI et al.

Nature Biotechnology, 2025

Correlation of TP53 Genetic Alterations with p53 Immunohistochemical Expression and Their Prognostic Significance in DLBCL.

Chen C et al.

Current Oncology (toronto, Ont.), 2025

Functional profiling of serine, threonine and tyrosine sites.

Li Y et al.

Nature Chemical Biology, 2025

Cancer risk in carriers of TP53 germline variants grouped into different functional categories.

Müntnich LJ et al.

Jnci Cancer Spectrum, 2025

39873732 (PubMed )
Supplement: pkaf008_supplementary_data.zip › Supplementary_Table_2_R1.xlsx › Tabelle1

Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.

Funk JS et al.

Nature Genetics, 2025

39774325 (PubMed )
Supplement: 41588_2024_2039_MOESM5_ESM.xlsx › SuppFig6

Detection of clinically relevant variants in the TP53 gene below 10% allelic frequency: A multicenter study by ERIC, the European Research Initiative on CLL.

Pavlova S et al.

Hemasphere, 2025

39840379 (PubMed )
Supplement: HEM3-9-e70065-s008.xlsx › Table_S7

Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumoronly versus paired tumor-normal sequencing.

Newman H et al.

Haematologica, 2024

38385299 (PubMed )
Supplement: 2023_284855_NEWMAN_SUPPL.pdf

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

Wong D et al.

Nature Communications, 2024

Direct measurement of engineered cancer mutations and their transcriptional phenotypes in single cells.

Kim HS et al.

Nature Biotechnology, 2024

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

Mutations in the TP53, VEGFA, and CTH Genes as Key Molecular Markers for the Diagnosis of Glioblastoma.

Khalil SS et al.

Cureus, 2024

Efficacy of immune checkpoint inhibitors in SMARCA4-deficient and TP53 mutant undifferentiated lung cancer.

Chen J et al.

Medicine, 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

Utility of Circulating Tumor DNA Assay in Identifying Mutations and Guiding Matched Targeted Therapy in Lung Cancers.

Li K et al.

Clinical Medicine Insights. Oncology, 2024

39429681 (PubMed )
Supplement: sj-xlsx-9-onc-10.1177_11795549241285238.xlsx › Sheet1

Molecular profiling and feasibility using a comprehensive hybrid capture panel on a consecutive series of non-small-cell lung cancer patients from a single centre.

Mosteiro M et al.

Esmo Open, 2023

38070435 (PubMed )
Supplement: mmc4.xlsx › Small_variants

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Suppl._Table_6

TP53 mutation prevalence in normal airway epithelium as a biomarker for lung cancer risk.

Craig DJ et al.

Bmc Cancer, 2023

37612638 (PubMed )
Supplement: 12885_2023_11266_MOESM1_ESM.xlsx › Sup._Table_5

In-silico analysis of TCGA data showing multiple POLE-like favourable subgroups overlapping with TP53 mutated endometrial cancer: Implications for clinical practice in low and middle-income countries.

Das Ghosh D et al.

Gynecologic Oncology Reports, 2023

37293351 (PubMed )
Supplement: mmc2.xlsx › TP53

Pirtobrutinib targets BTK C481S in ibrutinib-resistant CLL but second-site BTK mutations lead to resistance.

Naeem A et al.

Blood Advances, 2023

Genomic profile of two Brazilian choroid plexus tumors by whole-exome sequencing.

Garcia FAO et al.

Cold Spring Harbor Molecular Case Studies, 2023

Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis.

Light N et al.

Nature Communications, 2023

36604421 (PubMed )
Supplement: 41467_2022_35727_MOESM6_ESM.xlsx › Sheet1

The Broad Spectrum of TP53 Mutations in CLL: Evidence of Multiclonality and Novel Mutation Hotspots.

Lazarian G et al.

Human Mutation, 2023

40225169 (PubMed )
Supplement: 4880113.f1.zip › table_S3.xlsx › table_S3

TP53 mutations in functional corticotroph tumors are linked to invasion and worse clinical outcome.

Perez-Rivas LG et al.

Acta Neuropathologica Communications, 2022

Molecular Divergence upon EGFR-TKI Resistance Could Be Dependent on the Exon Location of the Original EGFR-Sensitizing Mutation.

Serna-Blasco R et al.

Cancers, 2022

36139605 (PubMed )
Supplement: cancers-14-04446-s001.zip › Supplemental_data_S4.xlsx › variants_datasheet

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

Clinical value of next-generation sequencing in guiding decisions regarding endocrine therapy for advanced HR-positive/HER-2-negative breast cancer.

Lyu D et al.

Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu, 2022

Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry.

Penkert J et al.

Journal of Hematology & Oncology, 2022

35974385 (PubMed )
Supplement: 13045_2022_1332_MOESM1_ESM.xlsx › Data

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

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

Ben-Cohen G et al.

Briefings in Bioinformatics, 2022

35043155 (PubMed )
Supplement: supplementary_table_s1_bbab524.xlsx › S1A._Positive_Set

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC et al.

Scientific Reports, 2022

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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."