Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.V157A
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TP53

NM_000546.6:p.V157A

Associated Papers

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

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

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

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

Clonal hematopoiesis of indeterminate potential is rare in pediatric patients undergoing autologous stem cell transplantation.

Kartal-Kaess M et al.

Pediatric Hematology and Oncology, 2024

Immunohistochemical findings and clinicopathological features of breast cancers with pathogenic germline mutations in Non-BRCA genes.

Singh K et al.

Human Pathology, 2024

The spectrum of TP53 mutations in Rwandan patients with gastric cancer.

Nzitakera A et al.

Genes and Environment : the Official Journal of the Japanese Environmental Mutagen Society, 2024

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_6

TP53 germline pathogenic variants in modern humans were likely originated during recent human history.

Kou SH et al.

Nar Cancer, 2023

37304756 (PubMed )
Supplement: zcad025_supplemental_files.zip › Supplementary_Table_2.xlsx › PVs

Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.

Cătană A et al.

Biomedicines, 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_S1

Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis.

Anaclerio F et al.

Frontiers in Genetics, 2023

Evolution of germline TP53 variant classification in children with cancer.

Tallis E et al.

Cancer Genetics, 2022

CHEK2 mutations and papillary thyroid cancer: correlation or coincidence?

Koen K et al.

Hereditary Cancer in Clinical Practice, 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

Long term follow-up of a phase II study of cladribine with concurrent rituximab with hairy cell leukemia variant.

Chihara D et al.

Blood Advances, 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

Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers.

Toss A et al.

Genes, 2021

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

Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Miller EM et al.

Bmc Medical Genomics, 2020

33256706 (PubMed )
Supplement: 12920_2020_824_MOESM5_ESM.xlsx › Sheet1

Pathogenic Variants in CHEK2 Are Associated With an Adverse Prognosis in Symptomatic Early-Onset Breast Cancer.

Greville-Heygate SL et al.

Jco Precision Oncology, 2020

From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Quinn EA et al.

Cold Spring Harbor Molecular Case Studies, 2019

30886117 (PubMed )
Supplement: supp_mcs.a003921_Supplemental_Table_1a.xlsx › S_Table1a._TP53_in_ClinVar

Time series analysis of TP53 gene mutations in recurrent HPV-negative vulvar squamous cell carcinoma.

Regauer S et al.

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

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cheng H et al.

Cell Reports, 2018

30380422 (PubMed )
Supplement: NIHMS1511993-supplement-7.xlsx › Table_S6A

Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria.

Hoyer J et al.

Bmc Cancer, 2018

Complex analysis of the TP53 tumor suppressor in mantle cell and diffuse large B-cell lymphomas.

Zlamalikova L et al.

Oncology Reports, 2017

Analytic, Preanalytic, and Clinical Validation of p53 IHC for Detection of TP53 Missense Mutation in Prostate Cancer.

Guedes LB et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

RET Aberrations in Diverse Cancers: Next-Generation Sequencing of 4,871 Patients.

Kato S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

27683183 (PubMed )
Supplement: 10780432ccr161679-sup-168576_1_supp_3636667_wcc1ns.docx

Germline mutations predisposing to diffuse large B-cell lymphoma.

Leeksma OC et al.

Blood Cancer Journal, 2017

Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Bennett TM et al.

Plos One, 2017

29267365 (PubMed )
Supplement: pone.0189881.s007.xlsx › S7a._Clear__1__all

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

Parsons DW et al.

Jama Oncology, 2016

CpG methylation of ubiquitin carboxyl-terminal hydrolase 1 (UCHL1) and P53 mutation pattern in sporadic colorectal cancer.

Abdelmaksoud-Dammak R et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2016

Mutational landscapes of tongue carcinoma reveal recurrent mutations in genes of therapeutic and prognostic relevance.

Vettore AL et al.

Genome Medicine, 2015

26395002 (PubMed )
Supplement: 13073_2015_219_MOESM4_ESM.xls › Plan1

Clinical validation of a next-generation sequencing screen for mutational hotspots in 46 cancer-related genes.

Singh RR et al.

The Journal of Molecular Diagnostics : Jmd, 2013

Transactivation and reactivation capabilities of temperature-dependent p53 mutants in yeast and human cells.

Jagosova J et al.

International Journal of Oncology, 2012

CHEK2 gene alterations in the forkhead-associated domain, 1100delC and del5395 do not modify the risk of sporadic pancreatic cancer.

Mohelnikova-Duchonova B et al.

Cancer Epidemiology, 2010

The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population.

Kleibl Z et al.

European Journal of Cancer (oxford, England : 1990), 2009

Analysis of CHEK2 FHA domain in Czech patients with sporadic breast cancer revealed distinct rare genetic alterations.

Kleibl Z et al.

Breast Cancer Research and Treatment, 2008

CHEK2 variants associate with hereditary prostate cancer.

Seppälä EH et al.

British Journal of Cancer, 2003

Mutations in CHEK2 associated with prostate cancer risk.

Dong X et al.

American Journal of Human Genetics, 2003

The Clinical and Genetic Landscape of Hereditary Cancer: Experience from a Single Clinical Diagnostic Laboratory.

Tsoulos N et al.

Cancer Genomics & Proteomics, 0

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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."