Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.D49V
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TP53

NM_000546.6:p.D49V

Associated Papers

Genomic Profile of Non-Small Cell Lung Cancer in a Spanish Cohort: A 2-Year Descriptive Study Using Next-Generation Sequencing.

Carnero-Gregorio M et al.

Genes, 2026

41751593 (PubMed )
Supplement: genes-17-00209-s001.zip › genes-4059941-SI.pdf

Next-Generation Sequencing-Based Detection of KRAS G12D Variants in Colorectal Cancer: A Retrospective Cohort Study.

Hekimoglu G et al.

Genes, 2026

Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome.

Montellier E et al.

Ebiomedicine, 2026

41370968 (PubMed )
Supplement: mmc2.xlsx › Table_S1

The molecular cartography of malignant and benign sebaceous tumours.

Ferreira I et al.

Nature Communications, 2025

A prospective, multicenter, comprehensive genomic profile signature study in patients with EGFR-mutant advanced non-small cell lung cancer at the first-line treatment failure of osimertinib.

Shi Y et al.

Signal Transduction and Targeted Therapy, 2025

41326340 (PubMed )
Supplement: 41392_2025_2481_MOESM1_ESM.docx

Tumor mutational burden modulates the prognostic effect of RAS mutations in metastatic colon cancer: mechanistic insights and genotype-phenotype correlations.

Ianniello M et al.

Journal of Translational Medicine, 2025

A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.

Fortuno C et al.

Genome Medicine, 2025

41126324 (PubMed )
Supplement: 13073_2025_1536_MOESM2_ESM.xlsx › Table_S2

TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.

Fischer NW et al.

Nature Communications, 2025

41022739 (PubMed )
Supplement: 41467_2025_63528_MOESM7_ESM.xlsx › Sheet1

Fragmentomic-based algorithm to computationally predict tumor-somatic, germline, and clonal hematopoiesis variant origin in liquid biopsy.

Brown DW et al.

The Journal of Liquid Biopsy, 2025

40704056 (PubMed )
Supplement: mmc2.xlsx › Supp_Table_3

Associations of KRAS Point Mutations with Survival of Patients Who Underwent Curative-Intent Resection of Colorectal Liver Metastases.

Maki H et al.

Annals of Surgical Oncology, 2025

DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.

Tan S et al.

Cancer, 2025

39876053 (PubMed )
Supplement: supplement_1.pdf

Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.

Montellier E et al.

Iscience, 2024

39634561 (PubMed )
Supplement: mmc2.xlsx › TableS1

Molecular characterization of Chinese patients with small bowel adenocarcinoma.

Jin B et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2024

KRAS Mutation Subtypes and Their Association with Other Driver Mutations in Oncogenic Pathways.

Mondal K et al.

Cells, 2024

Prognostic Impact of TP53 Mutations in Metastatic Nonsquamous Non-small-cell Lung Cancer.

Mathiot L et al.

Clinical Lung Cancer, 2024

Epigenetic MLH1 silencing concurs with mismatch repair deficiency in sporadic, naturally occurring colorectal cancer in rhesus macaques.

Deycmar S et al.

Journal of Translational Medicine, 2024

Completion of Genetic Testing and Incidence of Pathogenic Germline Mutation among Patients with Early-Onset Colorectal Cancer: A Single Institution Analysis.

Storandt MH et al.

Cancers, 2023

37509234 (PubMed )
Supplement: cancers-15-03570-s001.zip › cancers-2473295-supplementary.pdf

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_S1

KRAS, NRAS, BRAF, and PIK3CA mutation rates, clinicopathological association, and their prognostic value in Iranian colorectal cancer patients.

Mirzapoor Abbasabadi Z et al.

Journal of Clinical Laboratory Analysis, 2023

Multigene panel next generation sequencing in metastatic colorectal cancer in an Australian population.

Nindra U et al.

Plos One, 2023

37796807 (PubMed )
Supplement: pone.0292087.s001.xlsx › Sheet1

Comprehensive pan-cancer genomic landscape of KRAS altered cancers and real-world outcomes in solid tumors.

Lee JK et al.

Npj Precision Oncology, 2022

36494601 (PubMed )
Supplement: 41698_2022_334_MOESM1_ESM.pdf

Differences in actionable genomic alterations between brain metastases and non‑brain metastases in patients with non‑small cell lung cancer.

Nian R et al.

International Journal of Oncology, 2022

Somatic targeted mutation profiling of colorectal cancer precursor lesions.

Dos Santos W et al.

Bmc Medical Genomics, 2022

35761395 (PubMed )
Supplement: 12920_2022_1294_MOESM5_ESM.xlsx › Table_S2

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 › S1B._Negative_Set

Association between TP53 mutation and high 21-gene recurrence score in estrogen receptor-positive/HER2-negative breast cancer.

Ji JH et al.

Npj Breast Cancer, 2022

35173185 (PubMed )
Supplement: 41523_2022_384_MOESM1_ESM.pdf

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

Marbun VMG et al.

Plos One, 2022

Rationale for a Combination Therapy with the STAT5 Inhibitor AC-4-130 and the MCL1 Inhibitor S63845 in the Treatment of FLT3-Mutated or TET2-Mutated Acute Myeloid Leukemia.

Seipel K et al.

International Journal of Molecular Sciences, 2021

Clinical utility of circulating tumor DNA sequencing in advanced gastrointestinal cancer: SCRUM-Japan GI-SCREEN and GOZILA studies.

Nakamura Y et al.

Nature Medicine, 2020

Highly multiplexed quantifications of 299 somatic mutations in colorectal cancer patients by automated MALDI-TOF mass spectrometry.

Xu C et al.

Bmc Medical Genomics, 2020

33008377 (PubMed )
Supplement: 12920_2020_804_MOESM1_ESM.xls › SuppTable1

KRAS G12C mutations in Asia: a landscape analysis of 11,951 Chinese tumor samples.

Loong HH et al.

Translational Lung Cancer Research, 2020

Tissue gene mutation profiles in patients with colorectal cancer and their clinical implications.

Ye J et al.

Biomedical Reports, 2020

Molecular Diagnostic of Solid Tumor Using a Next Generation Sequencing Custom-Designed Multi-Gene Panel.

de Biase D et al.

Diagnostics (basel, Switzerland), 2020

32340363 (PubMed )
Supplement: diagnostics-10-00250-s001.pdf

Validating a targeted next-generation sequencing assay and profiling somatic variants in Chinese non-small cell lung cancer patients.

Jiang R et al.

Scientific Reports, 2020

Molecular Classification of Gastric Cancer among Alaska Native People.

Martinson HA et al.

Cancers, 2020

Clinical Multigene Panel Sequencing Identifies Distinct Mutational Association Patterns in Metastatic Colorectal Cancer.

Belardinilli F et al.

Frontiers in Oncology, 2020

32457828 (PubMed )
Supplement: Table_1.xlsx › Table_S1

Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.

Prieto-Potin I et al.

Peerj, 2020

33083132 (PubMed )
Supplement: peerj-08-10069-s007.xlsx › Table_S2

[Morphomolecular characterization of colorectal neoplasms].

Jesinghaus M

Der Pathologe, 2019

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

Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets.

Newell F et al.

Nature Communications, 2019

Primary malignant melanoma of esophagus: clinicopathologic characterization of 20 cases including molecular genetic profiling of 15 tumors.

Lasota J et al.

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

Molecular characterization of colorectal cancer using whole-exome sequencing in a Taiwanese population.

Chang YS et al.

Cancer Medicine, 2019

Genotyping of Circulating Tumor DNA Reveals the Clinically Actionable Mutation Landscape of Advanced Colorectal Cancer.

Cao W et al.

Molecular Cancer Therapeutics, 2019

Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Tessoulin B et al.

Journal of Hematology & Oncology, 2018

30545397 (PubMed )
Supplement: 13045_2018_679_MOESM3_ESM.pdf

Mutational processes shape the landscape of TP53 mutations in human cancer.

Giacomelli AO et al.

Nature Genetics, 2018

30224644 (PubMed )
Supplement: NIHMS1501645-supplement-4.xlsx › Giacomelli_et_al_New_Supplement

Somatic inactivating PTPRJ mutations and dysregulated pathways identified in canine malignant melanoma by integrated comparative genomic analysis.

Hendricks WPD et al.

Plos Genetics, 2018

30188888 (PubMed )
Supplement: pgen.1007589.s022.xls › TableS12.tsv

Comprehensive Characterization of Cancer Driver Genes and Mutations.

Bailey MH et al.

Cell, 2018

KRAS and PIK3CA mutations in colorectal adenocarcinomas correlate with aggressive histological features and behavior.

Jang S et al.

Human Pathology, 2017

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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."