Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.P191del1
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TP53

NM_000546.6:p.P191del1

Associated Papers

Evaluation of non-canonical p53 functions in DNA replication and recombination for variant classification.

Jansche R et al.

Cell Death & Disease, 2026

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

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

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

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

Wnt/B-catenin Activation and TP53 Mutations Associate With Distinct Immune Profiles in Advanced Thyroid Cancer.

Moretti S et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Personalized screening strategies for TP53 R337H carriers: a retrospective cohort study of tumor spectrum in Li-Fraumeni syndrome adult carriers.

Galante PAF et al.

Lancet Regional Health. Americas, 2025

39895904 (PubMed )
Supplement: mmc2.xlsx › Table_S1

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

Khalil SS et al.

Cureus, 2024

Outcome heterogeneity of TP53-mutated myeloid neoplasms and the role of allogeneic hematopoietic cell transplantation.

Pasca S et al.

Haematologica, 2024

37731390 (PubMed )
Supplement: 2023_283886_PASCA_SUPPL.pdf

Genomic heterogeneity at baseline is associated with T790M resistance mutations in EGFR-mutated lung cancer treated with the first-/second-generation tyrosine kinase inhibitors.

Menzel M et al.

The Journal of Pathology. Clinical Research, 2024

38284983 (PubMed )
Supplement: CJP2-10-e354-s001.zip › cjp2354-sup-TableS2.xlsx › Table_S2

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

Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.

Yang X et al.

Bmc Medicine, 2024

38281914 (PubMed )
Supplement: 12916_2024_3257_MOESM1_ESM.xlsx › Table_S4

KIT V560D-Mutated Systemic Mastocytosis Associated With High-Risk Myelodysplastic Syndrome: A Unique Case of Systemic Mastocytosis-Associated Hematologic Neoplasm.

Medawar G et al.

Case Reports in Hematology, 2024

Genomic instability analysis in DNA from Papanicolaou test provides proof-of-principle early diagnosis of high-grade serous ovarian cancer.

Paracchini L et al.

Science Translational Medicine, 2023

38055801 (PubMed )
Supplement: scitranslmed.adi2556_tables_s1_to_s13.zip › adi2556_Tables_S1_to_S13.xlsx › Table_S11

The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.

Tsantikidi A et al.

Diagnostics (basel, Switzerland), 2023

37761329 (PubMed )
Supplement: diagnostics-13-02962-s001.zip › supplementary__Table_S2.xlsx › Table_S2_Samples_analyzed

Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.

Haefliger S et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2023

36202073 (PubMed )
Supplement: pat-0090-0166-s01.pdf

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

p53 immunostaining pattern is a useful surrogate marker for TP53 gene mutations.

Sung YN et al.

Diagnostic Pathology, 2022

36471402 (PubMed )
Supplement: 13000_2022_1273_MOESM1_ESM.docx

The spectrum of subclonal TP53 mutations in chronic lymphocytic leukemia: A next generation sequencing retrospective study.

De Luca G et al.

Hematological Oncology, 2022

Comprehensive clinicopathological and genomic profiling of gallbladder cancer reveals actionable targets in half of patients.

de Bitter TJJ et al.

Npj Precision Oncology, 2022

36335173 (PubMed )
Supplement: 41698_2022_327_MOESM2_ESM.xlsx › Supplementary_Data_3

Metabolic regulation by p53 prevents R-loop-associated genomic instability.

Panatta E et al.

Cell Reports, 2022

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

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

Significance of p53 immunostaining in mesothelial proliferations and correlation with TP53 mutation status.

Naso JR et al.

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

What Plasma Can Tell Us When Tissue Cannot: A Case Report of Genomic Testing in mCRPC and Clinical Response to Treatment With the PARP Inhibitor Rucaparib.

Petrylak DP et al.

Frontiers in Oncology, 2022

Protein mimetic amyloid inhibitor potently abrogates cancer-associated mutant p53 aggregation and restores tumor suppressor function.

Palanikumar L et al.

Nature Communications, 2021

34172723 (PubMed )
Supplement: 41467_2021_23985_MOESM2_ESM.pdf

Somatic mutation profiles as molecular classifiers of ulcerative colitis-associated colorectal cancer.

Mäki-Nevala S et al.

International Journal of Cancer, 2021

TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge.

Grill S et al.

Archives of Gynecology and Obstetrics, 2021

Molecular heterogeneity of pancreatic intraductal papillary mucinous neoplasms and implications for novel endoscopic tissue sampling strategies.

Rift CV et al.

Journal of Clinical Pathology, 2021

Molecular subtyping and genomic profiling expand precision medicine in refractory metastatic triple-negative breast cancer: the FUTURE trial.

Jiang YZ et al.

Cell Research, 2021

32719455 (PubMed )
Supplement: 41422_2020_375_MOESM12_ESM.xlsx › Sheet1

Spectrum of histiocytic neoplasms associated with diverse haematological malignancies bearing the same oncogenic mutation.

Kemps PG et al.

The Journal of Pathology. Clinical Research, 2021

32852896 (PubMed )
Supplement: CJP2-7-10-s001.pdf

Case Report: Grade 2 Metastatic Pancreatic Neuroendocrine Tumor With Progression of One Metastasis After Pregnancy to Grade 3 Large-Cell Neuroendocrine Carcinoma: One Case Cured by Resection With Genomic Characterization of the Two Components.

Raoul JL et al.

Frontiers in Oncology, 2021

Somatic Mutation Profiles Revealed by Next Generation Sequencing (NGS) in 39 Chinese Hepatocellular Carcinoma Patients.

Ke L et al.

Frontiers in Molecular Biosciences, 2021

35118119 (PubMed )
Supplement: Table6.xlsx › Sheet1

Time to first treatment and P53 dysfunction in chronic lymphocytic leukaemia: results of the O-CLL1 study in early stage patients.

Monti P et al.

Scientific Reports, 2020

Genomic Database Analysis of Uterine Leiomyosarcoma Mutational Profile.

Astolfi A et al.

Cancers, 2020

32751892 (PubMed )
Supplement: cancers-12-02126-s001.zip › cancers-864725-supple › cancers-864725-supple-proofed.xlsx › Table_S2

Genomic landscape of platinum resistant and sensitive testicular cancers.

Loveday C et al.

Nature Communications, 2020

32366847 (PubMed )
Supplement: 41467_2020_15768_MOESM7_ESM.xlsx › Supplementary_Data_4

Identification of TP53 mutation associated-immunotype and prediction of survival in patients with hepatocellular carcinoma.

Shi M et al.

Annals of Translational Medicine, 2020

Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

Durham BH et al.

Nature Medicine, 2019

31768065 (PubMed )
Supplement: NIHMS1541330-supplement-1.pdf

High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Razavi P et al.

Nature Medicine, 2019

31768066 (PubMed )
Supplement: NIHMS1541314-supplement-1541314_Sup_Tab.xlsx › Supplementary_Table_6

Functional Genomic Complexity Defines Intratumor Heterogeneity and Tumor Aggressiveness in Liver Cancer.

Kwon SM et al.

Scientific Reports, 2019

31729408 (PubMed )
Supplement: 41598_2019_52578_MOESM2_ESM.pdf

From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Quinn EA et al.

Cold Spring Harbor Molecular Case Studies, 2019

30886117 (PubMed )
Supplement: supp_mcs.a003921_Supplemental_Table_1a.xlsx › S_Table1a._TP53_in_ClinVar

Molecular Scoring of Hepatocellular Carcinoma for Predicting Metastatic Recurrence and Requirements of Systemic Chemotherapy.

Nishida N et al.

Cancers, 2018

30274313 (PubMed )
Supplement: cancers-10-00367-s001.zip › Supplementary_Table_S5.xlsx › Supplementary_Table_7.xls

Copy number signatures and mutational processes in ovarian carcinoma.

Macintyre G et al.

Nature Genetics, 2018

30104763 (PubMed )
Supplement: NIHMS78219-supplement-3.xlsx › mutated_cases
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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."