Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.P72A
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TP53

NM_000546.6:p.P72A

Associated Papers

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

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM6_ESM.xlsx › clinvar_annotation

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

Mutational Disruption of TP53: A Structural Approach to Understanding Chemoresistance.

Alsulami AF

International Journal of Molecular Sciences, 2025

Deep Sequencing Reveals Novel Mutations in Androgen Receptor-Related Genes in Prostate Cancer.

Pedroza-Torres A et al.

International Journal of Molecular Sciences, 2025

41009328 (PubMed )
Supplement: ijms-26-08758-s001.zip › Suppl_Table_1.xlsx › Hoja1

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

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Molecular landscape of non-driver genes in myeloproliferative neoplasms through 333 cancer genes panel: Insights to reveal in Pakistan.

Rashid M et al.

Bmc Medical Genomics, 2025

Genetic Ancestry and Lung Cancer in Latin American Patients: A Crucial Step for Understanding a Diverse Population.

Castañeda-González JP et al.

Clinical Lung Cancer, 2025

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

Variation characteristics and clinical significance of TP53 in patients with myeloid neoplasms.

Ma Q et al.

Hematology (amsterdam, Netherlands), 2024

Papillary Thyroid Carcinoma: Correlation Between Molecular and Clinical Features.

Wang Q et al.

Molecular Diagnosis & Therapy, 2024

38896179 (PubMed )
Supplement: 40291_2024_721_MOESM1_ESM.xlsx › SNV

ALKTERNATE: A Pilot Study Alternating Lorlatinib With Crizotinib in ALK-Positive NSCLC With Prior ALK Inhibitor Resistance.

Itchins M et al.

Jto Clinical and Research Reports, 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

Next-generation sequencing as a valuable tool for mutational spectrum in advanced-stage NSCLC patients.

Iurca I et al.

Medicine and Pharmacy Reports, 2024

Single nucleotide variants in lung cancer.

Tian X et al.

Chinese Medical Journal Pulmonary and Critical Care Medicine, 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

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_15

The frequency of NRAS mutation in stool samples of Iranian colorectal cancers compared to Finnish patients.

Saberi F et al.

Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences, 2024

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable2

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

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.

Munté E et al.

Bioinformatics (oxford, England), 2023

36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST12-TP53

Homologous recombination deficiency in diverse cancer types and its correlation with platinum chemotherapy efficiency in ovarian cancer.

Wen H et al.

Bmc Cancer, 2022

35578198 (PubMed )
Supplement: 12885_2022_9602_MOESM9_ESM.xlsx › Table_S6

Next-Generation Sequencing in Lung Cancer Patients: A Comparative Approach in NSCLC and SCLC Mutational Landscapes.

Pop-Bica C et al.

Journal of Personalized Medicine, 2022

35330454 (PubMed )
Supplement: jpm-12-00453-s001.zip › jpm-1596007-supplementary.xlsx › Tumor_tissue

TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.

Ben-Cohen G et al.

Briefings in Bioinformatics, 2022

Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome.

Gu GL et al.

World Journal of Gastroenterology, 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_3.xlsx › Sheet1

Genomic Classification and Clinical Outcome in Rhabdomyosarcoma: A Report From an International Consortium.

Shern JF et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2021

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

Wagener R et al.

European Journal of Human Genetics : Ejhg, 2021

33840814 (PubMed )
Supplement: 41431_2021_878_MOESM2_ESM.xlsx › Table_S3

Genetic alterations and their therapeutic implications in epithelial ovarian cancer.

Lapke N et al.

Bmc Cancer, 2021

33947352 (PubMed )
Supplement: 12885_2021_8233_MOESM5_ESM.xlsx › Additional_file_5

Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Doffe F et al.

Cell Death and Differentiation, 2021

33257846 (PubMed )
Supplement: 41418_2020_672_MOESM3_ESM.xlsx › Table_S2a

Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Akolkar D et al.

Plos One, 2021

33556149 (PubMed )
Supplement: pone.0246048.s008.xlsx › Sheet1

Targeted next generation sequencing identifies somatic mutations in a cohort of Egyptian breast cancer patients.

Nassar A et al.

Journal of Advanced Research, 2020

Targeted sequencing reveals the mutational landscape responsible for sorafenib therapy in advanced hepatocellular carcinoma.

Tang J et al.

Theranostics, 2020

32373219 (PubMed )
Supplement: thnov10p5384s2.xlsx › S5-All_HCC_Mutations

Genetic heterogeneity of indeterminate thyroid nodules assessed preoperatively with next-generation sequencing reflects the diversity of the final histopathologic diagnosis.

Borowczyk M et al.

Polish Archives of Internal Medicine, 2019

A case of invasive mucinous adenocarcinoma of the lung showing stepwise progression at the primary site.

Kawai H et al.

Lung Cancer (amsterdam, Netherlands), 2019

Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.

Casula M et al.

Bmc Cancer, 2019

Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.

de Andrade KC et al.

Human Mutation, 2019

30352134 (PubMed )
Supplement: supplement_1.xlsx › Supplementary_Table_1

Target sequencing of cancer-related genes in early esophageal squamous neoplasia resected by endoscopic resection in Japanese patients.

Kobayashi S et al.

Oncotarget, 2018

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM5_ESM.xlsx › SD2

Design and MinION testing of a nanopore targeted gene sequencing panel for chronic lymphocytic leukemia.

Orsini P et al.

Scientific Reports, 2018

30087429 (PubMed )
Supplement: 41598_2018_30330_MOESM3_ESM.xlsx › recurrent_mutations

Molecular Screening of Small Biopsy Samples Using Next-Generation Sequencing in Korean Patients with Advanced Non-small Cell Lung Cancer: Korean Lung Cancer Consortium (KLCC-13-01).

Ku BM et al.

Journal of Pathology and Translational Medicine, 2018

Gene mutations in stool from gastric and colorectal neoplasia patients by next-generation sequencing.

Youssef O et al.

World Journal of Gastroenterology, 2017

Sporadic Early-Onset Diffuse Gastric Cancers Have High Frequency of Somatic CDH1 Alterations, but Low Frequency of Somatic RHOA Mutations Compared With Late-Onset Cancers.

Cho SY et al.

Gastroenterology, 2017

28522256 (PubMed )
Supplement: NIHMS1058936-supplement-Table_S3.xlsx › VCF

Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Ashktorab H et al.

Oncotarget, 2017

28002797 (PubMed )
Supplement: oncotarget-08-7852-s002.xlsx › TP53.Ion

Combined Genetic Biomarkers Confer Susceptibility to Risk of Urothelial Bladder Carcinoma in a Saudi Population.

Elhawary NA et al.

Disease Markers, 2017

Circumscribed sebaceous neoplasms: a morphological, immunohistochemical and molecular analysis.

Harvey NT et al.

Pathology, 2016

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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."