Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.R196Q
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TP53

NM_000546.6:p.R196Q

Associated Papers

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

Jansche R et al.

Cell Death & Disease, 2026

Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.

Can ND et al.

Human Genomics, 2026

41656315 (PubMed )
Supplement: 40246_2026_915_MOESM2_ESM.xlsx › VUS

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

Assessing endocrine resistance: monitoring circulating ESR1 mutations in Irosustat-treated ER positive breast cancer.

Page K et al.

Breast Cancer Research and Treatment, 2025

41364261 (PubMed )
Supplement: 10549_2025_7857_MOESM7_ESM.xlsx › Supp_Table_4

Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53.

Fortuno C et al.

Hgg Advances, 2025

40696762 (PubMed )
Supplement: mmc2.xlsx › Supplemental_Table_3

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

Next-generation sequencing in the molecular classification of endometrial carcinomas: Experience with 270 cases suggesting a potentially more aggressive clinical behavior of multiple classifier endometrial carcinomas.

Michalova K et al.

Virchows Archiv : an International Journal of Pathology, 2025

High-Frequency Mutations in TP53, AXIN1, CTNNB1, and KRAS, and Polymorphisms in JAK1 Genes Among Mongolian HCC Patients.

Bold N et al.

Cancer Reports (hoboken, N.j.), 2025

40344393 (PubMed )
Supplement: CNR2-8-e70227-s001.xlsx › Sample_Information

Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.

Riviere-Cazaux C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

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

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_35d_TISF

Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.

Rocca V et al.

Current Issues in Molecular Biology, 2024

39590369 (PubMed )
Supplement: cimb-46-00775-s001.zip › cimb-3298387-supplementary.pdf

Dermatomyositis-like skin eruptions under hydroxyurea therapy conceal TP53-mutated atypical keratinocytes: A histopathologic and molecular pathologic case series.

Pruessmann W et al.

Journal of Cutaneous Pathology, 2024

Mutation patterns in colorectal cancer and their relationship with prognosis.

Su Z et al.

Heliyon, 2024

39263143 (PubMed )
Supplement: mmc1.xlsx › Tabelle1

Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.

Pinheiro M et al.

Nature Communications, 2024

39266536 (PubMed )
Supplement: 41467_2024_51713_MOESM5_ESM.xlsx › Data_2

Repeat Next-Generation Sequencing (15-Gene Panel) in Unifocal, Synchronous, and Metachronous Non-Small-Cell Lung Cancer-A Single-Center Experience.

Kuang S et al.

Current Oncology (toronto, Ont.), 2024

39195317 (PubMed )
Supplement: curroncol-31-00334-s001.zip › curroncol-3067967-supplementary.pdf

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

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 › AML

Circulating tumour mutation detection in triple-negative breast cancer as an adjunct to tissue response assessment.

Zaikova E et al.

Npj Breast Cancer, 2024

38182588 (PubMed )
Supplement: 41523_2023_607_MOESM1_ESM.pdf

Baseline Mutations and ctDNA Dynamics as Prognostic and Predictive Factors in ER-Positive/HER2-Negative Metastatic Breast Cancer Patients.

Pascual J et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

37490393 (PubMed )
Supplement: ccr-23-0956_supplementary_table_s2_suppts2.xlsx › PEARL_baseline_mutations

Germline mutations and developmental mosaicism underlying EGFR-mutant lung cancer.

Burr R et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808694 (PubMed )
Supplement: media-2.xlsx › Patient_6

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2a.Studied_gene

p53/TP53 Status Assessment in Gastroesophageal Adenocarcinoma.

Boldrin E et al.

Cancers, 2023

P16 immunohistochemistry is a sensitive and specific surrogate marker for CDKN2A homozygous deletion in gliomas.

Vij M et al.

Acta Neuropathologica Communications, 2023

37138345 (PubMed )
Supplement: 40478_2023_1573_MOESM1_ESM.xlsx › Data1

Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.

Manotas MC et al.

Molecular Genetics & Genomic Medicine, 2023

36905130 (PubMed )
Supplement: MGG3-11-e2141-s004.xlsx › CI_Variants-Manual_Curation_

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

Recurrent missense variants in clonal hematopoiesis-related genes present in the general population.

Ariste O et al.

Clinical Genetics, 2023

36353970 (PubMed )
Supplement: CGE-103-247-s001.xlsx › Variants_in_CHIP_Genes

Identification of TP53 mutations in circulating tumour DNA in high grade serous ovarian carcinoma using next generation sequencing technologies.

Calapre L et al.

Scientific Reports, 2023

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

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Shah JB et al.

Nature Communications, 2022

36344544 (PubMed )
Supplement: 41467_2022_34523_MOESM5_ESM.xlsx › TP53_Mutations_Comparison

Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Ghezelayagh TS et al.

Cancer Research Communications, 2022

36311816 (PubMed )
Supplement: crc-22-0314-s02.xlsx › Table_S6_List_of_mutations

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

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

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

Klonowska K et al.

The Journal of Clinical Investigation, 2022

35358092 (PubMed )
Supplement: jci-132-155858-s188.xlsx › Supplemental_Table_5.1.

Genomic landscape of pathogenic mutation of APC, KRAS, TP53, PIK3CA, and MLH1 in Indonesian colorectal cancer.

Marbun VMG et al.

Plos One, 2022

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

Comprehensive Identification of Deleterious TP53 Missense VUS Variants Based on Their Impact on TP53 Structural Stability.

Tam B et al.

International Journal of Molecular Sciences, 2021

34768775 (PubMed )
Supplement: ijms-22-11345-s001.zip › Supplementary_table › Supplementary_table_1.xlsx › Sheet1

Clinicopathologic and Genomic Landscape of Breast Carcinoma Brain Metastases.

Huang RSP et al.

The Oncologist, 2021

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_15.xlsx › Sheet1
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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."