Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.R267W
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TP53

NM_000546.6:p.R267W

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

Multigene panel testing reveals the spectrum of non-BRCA germline variants in BRCA1/2-negative breast, ovarian, and prostate cancer patients from a Turkish cohort.

Paksoy B et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2026

Unraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiers.

Zhou Y et al.

Orphanet Journal of Rare Diseases, 2026

Primary and metastatic brain tumours in hereditary cancer syndromes: case reports with and literature review.

Robaczyńska J et al.

Hereditary Cancer in Clinical Practice, 2026

TP53 mutation predict poor prognosis in diffuse large B-cell lymphoma: a single-center study.

Zhang H et al.

Annals of Hematology, 2026

41609884 (PubMed )
Supplement: 277_2026_6821_MOESM2_ESM.xlsx › Sheet1

Correlation analysis of TP53 missense mutations and p53 protein expression patterns in endometrial carcinoma.

Yang Y et al.

Human Pathology, 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

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

Recurrent Glioblastoma with Turcot Syndrome.

Fu Z et al.

Turkish Neurosurgery, 2026

Clonal architecture of FLT3-ITD and acquired 13q uniparental disomy define prognostic heterogeneity and therapeutic vulnerabilities in acute myeloid leukemia.

Lai A et al.

Neoplasia (new York, N.y.), 2025

41411742 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Age-Related Multigene Analysis of Colorectal Cancer Using Next-Generation Sequencing.

Kozlowska-Geller M et al.

Cancers, 2025

41463160 (PubMed )
Supplement: cancers-17-03909-s001.zip › cancers-3953905-supplementary.pdf

Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.

Cheng WY et al.

Blood, 2025

40829168 (PubMed )
Supplement: BLOOD_BLD-2024-027692-mmc5.xlsx › Sheet_1

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

A First-in-Human Study of ATM Inhibitor Lartesertib as Monotherapy in Patients with Advanced Solid Tumors.

Siu LL et al.

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

40875525 (PubMed )
Supplement: ccr-25-1648_supplementary_table_s5_suppts5.xlsx › Sheet1

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

Fortuno C et al.

Hgg Advances, 2025

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

Transfer Learning for Survival-based Clustering of Predictors with an Application to TP53 Mutation Annotation.

Liu X et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories.

Kasper E et al.

International Journal of Cancer, 2025

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

Comparative outcome and prognostic factor analysis among MDS/AML patients with TP53 mutations, snps, and wild type.

Yang X et al.

Human Genomics, 2025

40877983 (PubMed )
Supplement: 40246_2025_792_MOESM2_ESM.xlsx › Table_S8

Variation at the R181 residue of p53 confers loss of p53 DNA binding cooperativity with the retention of mitochondrial-associated apoptosis.

Moses R et al.

Biorxiv : the Preprint Server for Biology, 2025

A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.

Weller C et al.

Science (new York, N.y.), 2025

40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1

A rare tumor with unique features: polymorphous low-grade neuroepithelial tumor of the young with third ventricular location and TP53 mutation. Illustrative case.

Ataoglu C et al.

Journal of Neurosurgery. Case Lessons, 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

Transmission ratio distortion of germline TP53 variants in Li-Fraumeni syndrome families.

Halpern N et al.

Cancer, 2025

Clinicopathological and molecular characterization of KRAS wild-type pancreatic ductal adenocarcinomas reveals precursor lesions with oncogenic mutations and fusions in RAS pathway genes.

Toriyama K et al.

The Journal of Pathology, 2025

40317966 (PubMed )
Supplement: PATH-266-337-s001.docx

Molecular Profiling Reveals Novel Gene Fusions and Genetic Markers for Refined Patient Stratification in Pediatric Acute Lymphoblastic Leukemia.

Péterffy B et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 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_1

UNISOM: Unified Somatic Calling and Machine Learning-based Classification Enhance the Discovery of CHIP.

Tian S et al.

Genomics, Proteomics & Bioinformatics, 2025

40300108 (PubMed )
Supplement: qzaf040_supplementary_data.zip › Table_S6.xlsx › Sheet1

Clinical Implications of Circulating Tumor DNA in Multiple Myeloma and Its Precursor Diseases.

Park SS et al.

Annals of Laboratory Medicine, 2025

40017228 (PubMed )
Supplement: alm-45-3-279-supple2.xlsx › Table_S3

DICER1 in pediatric and adult cancer predisposition populations: Prevalence, phenotypes, and mosaicism.

Salvador L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

TP53 Mutation Status in Myelodysplastic Neoplasm and Acute Myeloid Leukemia: Impact of Reclassification Based on the 5th WHO and International Consensus Classification Criteria: A Korean Multicenter Study.

Kim HY et al.

Annals of Laboratory Medicine, 2025

39497415 (PubMed )
Supplement: alm-45-2-160-supple.pdf

Clinical Impact of a Next-Generation Sequencing Approach for Glioblastoma Patients.

Vivancos Sánchez C et al.

Cancers, 2025

Assessing germline TP53 mutations in cancer patients: insights into Li-Fraumeni syndrome and genetic testing guidelines.

Danishevich A et al.

Hereditary Cancer in Clinical Practice, 2025

Predisposition Footprints in the Somatic Genome of Wilms Tumors.

Treger TD et al.

Cancer Discovery, 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

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

Pathogenic germ line variants in a prospective multicenter cohort of patients with multiple myeloma.

Wiedmeier-Nutor JE et al.

Blood Neoplasia, 2025

40546721 (PubMed )
Supplement: BNEO_NEO-2024-000270-mmc1.pdf

Case review of perivascular epithelioid cell tumor occurring in patients with Li-Fraumeni syndrome.

Abe N et al.

Familial Cancer, 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

Mechanisms of p53 core tetramer stability mediated by multi-interface interactions: A molecular dynamics study.

Zhou H et al.

Archives of Biochemistry and Biophysics, 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."