Associated Papers
Deep Sequencing Reveals Novel Mutations in Androgen Receptor-Related Genes in Prostate Cancer.
Pedroza-Torres A et al.
International Journal of Molecular Sciences, 2025
Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.
Abujamous L et al.
The Oncologist, 2025
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.
Dawood M et al.
Genome Medicine, 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
Two-Time Multiplexed Targeted Next-Generation Sequencing Might Help the Implementation of Germline Screening Tools for Myelodysplastic Syndromes/Hematologic Neoplasms.
Calvete O et al.
Biomedicines, 2023
TP53 germline pathogenic variants in modern humans were likely originated during recent human history.
Kou SH et al.
Nar Cancer, 2023
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
Genetic mutations in HER2-positive breast cancer: possible association with response to trastuzumab therapy.
Zakaria NH et al.
Human Genomics, 2023
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
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Upfront Next Generation Sequencing in Non-Small Cell Lung Cancer.
Kuang S et al.
Current Oncology (toronto, Ont.), 2022
SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.
Medeiros JJF et al.
Bioinformatics (oxford, England), 2022
TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.
Ben-Cohen G et al.
Briefings in Bioinformatics, 2022
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
G V et al.
Frontiers in Genetics, 2022
Innate immune response orchestrates phosphoribosyl pyrophosphate synthetases to support DNA repair.
Liu R et al.
Cell Metabolism, 2021
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes.
Terradas M et al.
Gut, 2021
The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.
Ayala R et al.
Cancers, 2021
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
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Fortuno C et al.
Human Mutation, 2021
A step towards personalizing next line therapy for resected pancreatic and related cancer patients: A single institution's experience.
Lowder CY et al.
Surgical Oncology, 2020
Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.
Bishop MR et al.
Plos One, 2020
Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.
Prieto-Potin I et al.
Peerj, 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
Concern regarding classification of germline TP53 variants as likely pathogenic.
Evans DG et al.
Human Mutation, 2019
Finding driver mutations in cancer: Elucidating the role of background mutational processes.
Brown AL et al.
Plos Computational Biology, 2019
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.
de Andrade KC et al.
Human Mutation, 2019
A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk.
Bishop MR et al.
Plos One, 2019
ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-update on methodological approaches and results interpretation.
Malcikova J et al.
Leukemia, 2018
Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.
Maxwell KN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
TP53 mutations in human cancer: database reassessment and prospects for the next decade.
Leroy B et al.
Human Mutation, 2014
Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era.
Soussi T et al.
Human Mutation, 2014
Mapping the p53 transcriptome universe using p53 natural polymorphs.
Wang B et al.
Cell Death and Differentiation, 2014
Computational screening and molecular dynamic simulation of breast cancer associated deleterious non-synonymous single nucleotide polymorphisms in TP53 gene.
Chitrala KN et al.
Plos One, 2014
Identification of new p53 target microRNAs by bioinformatics and functional analysis.
Bisio A et al.
Bmc Cancer, 2013
Mechanistic differences in the transcriptional activation of p53 by 14-3-3 isoforms.
Rajagopalan S et al.
Nucleic Acids Research, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009