Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.C135*
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TP53

NM_000546.6:p.C135*

Associated Papers

Molecular findings in endometrial mucinous carcinoma of the gastric [Gastrointestinal] type: A report of 5 additional cases and a systematic review of the literature.

Fadare O et al.

Pathology, Research and Practice, 2025

Clinicopathologic Features of Breast Tumors in Germline TP53 Variant-Associated Li-Fraumeni Syndrome.

Narasimhamurthy M et al.

The American Journal of Surgical Pathology, 2025

Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.

Funk JS et al.

Nature Genetics, 2025

39774325 (PubMed )
Supplement: 41588_2024_2039_MOESM12_ESM.xlsx › Fig7b_d

Exploring p53 protein expression and its link to TP53 mutation in myelodysplasia-related malignancies-Interpretive challenges and potential field of applications.

Bedekovics J et al.

Histopathology, 2024

The TP53-activated E3 ligase RNF144B is a tumour suppressor that prevents genomic instability.

Abad E et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2024

38685100 (PubMed )
Supplement: 13046_2024_3045_MOESM2_ESM.xlsx › Patient_p53_mutated_samples

Molecular Characterization of Advanced-Stage Melanomas in Clinical Practice Using a Laboratory-Developed Next-Generation Sequencing Panel.

Maloberti T et al.

Diagnostics (basel, Switzerland), 2024

38667446 (PubMed )
Supplement: diagnostics-14-00800-s001.zip › Supplementary_Table_S1.xlsx › Foglio1

Distinct genomic and immunologic tumor evolution in germline TP53-driven breast cancers.

Boruah N et al.

Biorxiv : the Preprint Server for Biology, 2024

38617260 (PubMed )
Supplement: media-2.xlsx › S1

TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.

Zhou Y et al.

Journal of Translational Medicine, 2023

38037073 (PubMed )
Supplement: 12967_2023_4742_MOESM3_ESM.xlsx › Sheet1

Pure and mixed clear cell carcinoma of the endometrium: A molecular and immunohistochemical analysis study.

Reijnen C et al.

Cancer Medicine, 2023

37081760 (PubMed )
Supplement: CAM4-12-12365-s001.pdf

Blood tumor mutational burden and dynamic changes in circulating tumor DNA predict response to pembrolizumab treatment in advanced non-small cell lung cancer.

Stensgaard S et al.

Translational Lung Cancer Research, 2023

Automated Dashboards for the Identification of Pathogenic Circulating Tumor DNA Mutations in Longitudinal Blood Draws of Cancer Patients.

Udalov A et al.

Methods and Protocols, 2023

Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types.

Sasaki K et al.

Scientific Reports, 2023

36964217 (PubMed )
Supplement: 41598_2023_32092_MOESM1_ESM.xlsx › Suppl._Table_S4

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc3.xlsx › VAF_TP53_KRAS

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

Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.

Wu H et al.

Cancer Communications (london, England), 2022

36264285 (PubMed )
Supplement: CAC2-42-1367-s002.xlsx › Supplementary_Table_S3

Somatic mutations of activating signalling, transcription factor, and tumour suppressor are a precondition for leukaemia transformation in myelodysplastic syndromes.

Xu F et al.

Journal of Cellular and Molecular Medicine, 2022

Deep Molecular and In Silico Protein Analysis of p53 Alteration in Myelodysplastic Neoplasia and Acute Myeloid Leukemia.

Madarász K et al.

Cells, 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

Mutation profiles in circulating cell-free DNA predict acquired resistance to olaparib in high-grade serous ovarian carcinoma.

Hu D et al.

Cancer Science, 2022

35661486 (PubMed )
Supplement: CAS-113-2849-s010.xlsx › Sheet1

Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age.

Burkhardt B et al.

Nature Communications, 2022

The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification.

Yang Y et al.

Bmc Cancer, 2022

35180847 (PubMed )
Supplement: 12885_2022_9279_MOESM3_ESM.xlsx › sheet1

Clinical Impact of Prospective Whole Genome Sequencing in Sarcoma Patients.

Schipper LJ et al.

Cancers, 2022

35053600 (PubMed )
Supplement: cancers-14-00436-s001.zip › Supplementary_data_-_Detailed_genomic_information_per_sample.xlsx › SNVs__MNVs__indels

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

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc4.xlsx › A__TCGA_hotspots

ABEMUS: platform-specific and data-informed detection of somatic SNVs in cfDNA.

Casiraghi N et al.

Bioinformatics (oxford, England), 2020

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

Shi M et al.

Annals of Translational Medicine, 2020

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

Incidence and distribution of UroSEEK gene panel in a multi-institutional cohort of bladder urothelial carcinoma.

Eich ML et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

31028363 (PubMed )
Supplement: NIHMS1525315-supplement-2.xlsx › Sheet1

Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene.

Niyomnaitham S et al.

Peerj, 2019

30828495 (PubMed )
Supplement: peerj-07-6501-s001.xlsx › TP53

TP53 exon-6 truncating mutations produce separation of function isoforms with pro-tumorigenic functions.

Shirole NH et al.

Elife, 2016

27759562 (PubMed )
Supplement: elife-17929-supp2.xlsx › Sheet3

Genome-wide mutation profiles of colorectal tumors and associated liver metastases at the exome and transcriptome levels.

Lim B et al.

Oncotarget, 2015

26109429 (PubMed )
Supplement: oncotarget-06-22179-s002.xls › Table_S4.

Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Witkiewicz AK et al.

Nature Communications, 2015

25855536 (PubMed )
Supplement: ncomms7744-s2.xlsx › MUTATIONS_ALL_CASES

A systematic study of gene mutations in urothelial carcinoma; inactivating mutations in TSC2 and PIK3R1.

Sjödahl G et al.

Plos One, 2011

21533174 (PubMed )
Supplement: pone.0018583.s004.xls › Sheet1

Mutations to nonsense codons in human genetic disease: implications for gene therapy by nonsense suppressor tRNAs.

Atkinson J et al.

Nucleic Acids Research, 1994

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