Locus-specific mutation databases: pitfalls and good practice based on the p53 experience

No abstract is available for this paper.

• Publication year

  2006

• Venue

  Nature Reviews. Cancer

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/nrc1783PMID 16397528
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Meta-analysis of the p53 Mutation Database for Mutant p53 Biological Activity Reveals a Methodologic Bias in Mutation Detection

  2006cited by this paper
• Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutations

  2005cited by this paper
• The p53 tumour suppressor gene and the tobacco industry: research, debate, and conflict of interest.

  2005cited by this paper
• UMD (Universal Mutation Database): 2005 update

  2005cited by this paper
• LOVD: Easy creation of a locus‐specific sequence variation database using an “LSDB‐in‐a‐box” approach

  2005cited by this paper
• Databases in peril

  2005cited by this paper
• Databases in peril

  2005cited by this paper
• Classification of BRCA1 missense variants of unknown clinical significance

  2005cited by this paper
• 'A variant of uncertain significance' and the proliferation of human disease gene databases

  2005cited by this paper
• America at home and abroad.

  2005cited by this paper
• The challenge of documenting mutation across the genome: The human genome variation society approach

  2004cited by this paper
• A census of human cancer genes

  2004cited by this paper
• Significance of TP53 mutations in human cancer: A critical analysis of mutations at CpG dinucleotides

  2003cited by this paper
• Understanding missense mutations in the BRCA1 gene: An evolutionary approach

  2003cited by this paper
• A universal legal framework as a prerequisite for database interoperability

  2003cited by this paper
• Understanding the function–structure and function–mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis

  2003cited by this paper
• Human Gene Mutation Database (HGMD®): 2003 update

  2003cited by this paper
• Mutation detection 2001: Novel technologies, developments and applications for analysis of the human genome

  2002cited by this paper
• Corrigendum: Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

  2002cited by this paper
• Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein

  2002cited by this paper
• Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors

  2002cited by this paper
• Mutation detection 2001: Novel technologies, developments and applications for analysis of the human genome. Proceedings of the 6th International Symposium on Mutations in the Human Genome. Bled, Slovenia, 2001.

  2002cited by this paper
• Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases.

  2002cited by this paper
• Europe's Database Experiment

  2001cited by this paper
• Assessing TP53 status in human tumours to evaluate clinical outcome

  2001cited by this paper
• Intellectual property. Europe's database experiment.

  2001cited by this paper
• VARIATION, DATABASES, and DISEASE: New directions for Human Mutation

  2000cited by this paper
• UMD (Universal Mutation Database): A generic software to build and analyze locus‐specific databases

  2000cited by this paper
• Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

  2000cited by this paper
• MuStaR™ and other software for locus‐specific mutation databases

  2000cited by this paper
• Involvement of 5-methylcytosine in sunlight-induced mutagenesis.

  1999cited by this paper
• Mutations of the VHL gene in sporadic renal cell carcinoma: Definition of a risk factor for VHL patients to develop an RCC

  1999cited by this paper
• The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis

  1999cited by this paper
• Software and database for the analysis of mutations in the VHL gene

  1998cited by this paper
• Software and database for the analysis of mutations in the human WT1 gene

  1998cited by this paper
• p53 mutations, benzo[a]pyrene and lung cancer.

  1998cited by this paper
• CpG transition strand asymmetry and hitch-hiking mutations as measures of tumorigenic selection in shaping the p53 mutation spectrum.

  1998cited by this paper
• Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene

  1997cited by this paper
• p53 and APC gene mutations: software and databases

  1997cited by this paper
• Cytosine methylation determines hot spots of DNA damage in the human P53 gene.

  1997cited by this paper
• Software and database for the analysis of mutations in the human LDL receptor gene

  1997cited by this paper
• Hepatocellular carcinoma: from gene to public health.

  1997cited by this paper
• The p53 tumour suppressor gene: a model for molecular epidemiology of human cancer.

  1996cited by this paper
• Software and database for the analysis of mutations in the human FBN1 gene

  1996cited by this paper
• p53 tumor suppressor gene: at the crossroads of molecular carcinogenesis, molecular epidemiology, and cancer risk assessment.

  1996cited by this paper
• Complete and tissue-independent methylation of CpG sites in the p53 gene: implications for mutations in human cancers.

  1995cited by this paper
• Positional cloning moves from perditional to traditional

  1995cited by this paper
• The origin of the major cystic fibrosis mutation (delta F508) in European populations.

  1994cited by this paper
• A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

  1994cited by this paper
• The origin of the major cystic fibrosis mutation (ΔF508) in European populations

  1994cited by this paper
• Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests.

  1994cited by this paper
• Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

  1994cited by this paper
• Mutations of the RET proto-oncogene in Hirschsprung's disease

  1994cited by this paper
• A Mutation in the RET Protooncogene Associated with Multiple Endocrine Neoplasia Type 2B and Sporadic Medullary Thyroid Carcinoma

  1994cited by this paper
• The EMBL data library

  1993cited by this paper
• Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A

  1993cited by this paper
• Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients.

  1993cited by this paper
• Alleles of the APC gene: an attenuated form of familial polyposis.

  1993cited by this paper
• The SWISS-PROT protein sequence data bank.

  1991cited by this paper
• Human MyoD: cDNA and deduced amino acid sequence.

  1991cited by this paper
• The genome data base (GDB)--a human gene mapping repository.

  1991cited by this paper
• The GenBank genetic sequence databank

  1986cited by this paper
• The EMBL data library

  1986cited by this paper

• Targeting oxidative stress-mediated regulated cell death as a vulnerability in cancer

  2025cites this paper
• Network Pharmacology Based Elucidation of Molecular Mechanisms of Laoke Formula for Treatment of Advanced Non-Small Cell Lung Cancer

  2024cites this paper
• p53 amyloid pathology is correlated with cancer grades irrespective of the mutant or wildtype forms.

  2023cites this paper
• p53 amyloid pathology with cancer grades and p53 mutations

  2023cites this paper
• mRNA-based cancer therapeutics

  2023cites this paper
• MDMX elevation by a novel Mdmx–p53 interaction inhibitor mitigates neuronal damage after ischemic stroke

  2022cites this paper
• Novel chloroquine derivative suppresses melanoma cell growth by DNA damage through increasing ROS levels

  2022cites this paper
• Precise tumor immune rewiring via synthetic CRISPRa circuits gated by concurrent gain/loss of transcription factors

  2022cites this paper
• Epigenetic Approaches to Overcome Fluoropyrimidines Resistance in Solid Tumors

  2022cites this paper
• The Biological Function of TUSC7/miR-1224-3p Axis in Triple-Negative Breast Cancer

  2021cites this paper
• Construction of co‐expression modules related to survival by WGCNA and identification of potential prognostic biomarkers in glioblastoma

  2020cites this paper
• Concordance between TP53 alterations in blood and tissue: impact of time interval, biopsy site, cancer type and circulating tumor DNA burden

  2020cites this paper
• Investigation on the Genomic Characterization of Uterine Sarcoma for rAd-p53 Combined with Chemotherapy Treatment

  2020cites this paper
• Regulation of p53 by the 14-3-3 protein interaction network: new opportunities for drug discovery in cancer

  2020cites this paper
• The atypical cyclin-like protein Spy1 overrides p53-mediated tumour suppression and promotes susceptibility to breast tumourigenesis

  2019cites this paper
• Mechanism of coralyne-mediated DNA photo-nicking process.

  2019cites this paper
• The cancer-associated, gain-of-function TP53 variant P152Lp53 activates multiple signaling pathways implicated in tumorigenesis

  2019influential citation
• Activation of Multiple Signalling Pathways by P152Lp53 Mutant Reveals New Gain-of-function Implicating Tumorigenesis

  2018cites this paper
• Management of Peritoneal Metastases- Cytoreductive Surgery, HIPEC and Beyond

  2018influential citation
• ROS and the DNA damage response in cancer

  2018cites this paper
• In vitro study of FUZ as a novel potential therapeutic target in non‐small‐cell lung cancer

  2018cites this paper
• Cinnamtannin B-1 inhibits cell survival molecules and induces apoptosis in colon cancer

  2018cites this paper
• Cytoreductive Surgery and Intraperitoneal Chemotherapy for Advanced Epithelial Ovarian Cancer

  2018cites this paper
• Rôle des dommages à l’ADN dans la dégénérescence des cellules de la cochlée et criblage des molécules thérapeutiques

  2018cites this paper
• The Tumor Suppressor p53 in Mucosal Melanoma of the Head and Neck

  2017cites this paper
• Genipin suppresses colorectal cancer cells by inhibiting the Sonic Hedgehog pathway

  2017cites this paper
• SZRD1 is a Novel Protein that Functions as a Potential Tumor Suppressor in Cervical Cancer

  2017cites this paper
• Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.

  2017cites this paper
• PRIMA‐1 induces p53‐mediated apoptosis by upregulating Noxa in esophageal squamous cell carcinoma with TP53 missense mutation

  2017cites this paper
• Radiosensitization of Adenoid Cystic Carcinoma with MDM2 Inhibition

  2017cites this paper
• Compromise in competition between free energy and binding effect of intrinsically disordered protein p53 C-terminal domain

  2017cites this paper
• Genomic Databases: Emerging Tools for Molecular Diagnostics

  2017cites this paper
• Long noncoding and circular RNAs in lung cancer: advances and perspectives.

  2016cites this paper
• Actionable Genes, Core Databases, and Locus‐Specific Databases

  2016cites this paper
• Dual-Targeting Nanovesicles for In Situ Intracellular Imaging of and Discrimination between Wild-type and Mutant p53.

  2016cites this paper
• Secondary interaction between MDMX and p53 core domain inhibits p53 DNA binding

  2016cites this paper
• The importance of p53 pathway genetics in inherited and somatic cancer genomes

  2016cites this paper
• Oligooxopiperazines as Topographical Helix Mimetics

  2016cites this paper
• Synthetic and biological investigations into hypoxia-activated anti-tumour codrugs

  2015cites this paper
• Role of novel histone modifications in cancer

  2015cites this paper
• Low expression of long noncoding RNA PANDAR predicts a poor prognosis of non-small cell lung cancer and affects cell apoptosis by regulating Bcl-2

  2015cites this paper
• Cancer Stem Cells and Chemoresistance: Strategies to Overcome Therapeutic Resistance

  2015cites this paper
• Oncogenic properties and targeting of chemokine receptors CXCR4, CXCR7 and US28

  2015influential citation
• Predicting the Functional Effects of Human Short Variations Using Hidden Markov Models

  2015influential citation
• Standardization of TP53 gene mutations analysis on oral squamous cell carcinoma from paraffin-embedded tissues

  2014cites this paper
• P53-regulated long non-coding RNA TUG1 affects cell proliferation in human non-small cell lung cancer, partly through epigenetically regulating HOXB7 expression

  2014cites this paper
• p53 Family and Cellular Stress Responses in Cancer

  2014cites this paper
• Quantitative prediction of the effect of genetic variation using hidden Markov models

  2014influential citation
• Rational Design of Small-Molecule Stabilizers of Spermine Synthase Dimer by Virtual Screening and Free Energy-Based Approach

  2014cites this paper
• p53 Protein Regulates Hsp90 ATPase Activity and Thereby Wnt Signaling by Modulating Aha1 Expression*

  2014cites this paper
• Limiting the power of p 53 through the ubiquitin proteasome pathway

  2014cites this paper
• Locus‐Specific Databases in Cancer: What Future in a Post‐Genomic Era? The TP53 LSDB paradigm

  2014cites this paper
• p53 Modulates Hsp90 ATPase Activity and Regulates Aryl Hydrocarbon Receptor Signaling

  2014cites this paper
• TP53 Mutations in Human Cancer: Database Reassessment and Prospects for the Next Decade

  2014cites this paper
• Limiting the power of p53 through the ubiquitin proteasome pathway

  2014cites this paper
• Standardization of TP 53 gene mutations analysis on oral squamous cell carcinoma from paraffin-embedded tissues

  2014influential citation
• Modulating Aha1 Expression Activity and Thereby Wnt Signaling by p53 Protein Regulates Hsp90 ATPase

  2014cites this paper
• Interpreting Secondary Cardiac Disease Variants in an Exome Cohort

  2013cites this paper
• The role of the fallopian tube in the origin of ovarian cancer.

  2013cites this paper
• Exploring the biology of cancer of unknown primary: breakthroughs and drawbacks

  2013cites this paper
• Association of TP53 Mutational Status and Gender with Survival after Adjuvant Treatment for Stage III Colon Cancer: Results of CALGB 89803

  2013cites this paper
• Expanding the prion concept to cancer biology: dominant-negative effect of aggregates of mutant p53 tumour suppressor

  2013cites this paper
• Characterization and Targeting of the Aldehyde Dehydrogenase Subpopulation in Ovarian Cancer

  2013cites this paper
• Potential conformational heterogeneity of p53 bound to S100B(ββ).

  2013cites this paper
• Up-Regulation of Two Distinct p53-DNA Binding Functions by Covalent Poly(ADP-ribosyl)ation: Transactivating and Single Strand Break Sensing

  2013cites this paper
• Molecular Mechanisms of Medulloblastoma Formation: Tumor Suppressor Functions of Hedgehog Pathway Components

  2013cites this paper
• Polyphenolic Compounds Targeting p53-Family Tumor Suppressors: Current Progress and Challenges

  2013cites this paper
• A chimeric p53 evades mutant p53 transdominant inhibition in cancer cells.

  2013cites this paper
• LncRNA loc285194 is a p53-regulated tumor suppressor

  2013cites this paper
• Significance of MDM2 and P14 ARF polymorphisms in susceptibility to differentiated thyroid carcinoma.

  2013cites this paper
• High throughput RNAi screening identifies ID1 as a synthetic sick/lethal gene interacting with the common TP53 mutation R175H

  2013cites this paper
• 以新视角观察p53家族在肺癌发生及治疗中的独特作用

  2013cites this paper
• The TP 53 website : an integrative resource centre for the TP 53 mutation database and TP 53 mutant analysis

  2012cites this paper
• The human long non-coding RNA-RoR is a p53 repressor in response to DNA damage

  2012cites this paper
• Telomere resolution and genomic instability in mouse embryonic stem cells

  2012cites this paper
• Chromatin organizer SATB1 as a novel molecular target for cancer therapy.

  2012cites this paper
• Data-driven unbiased curation of the TP53 tumor suppressor gene mutation database and validation by ultradeep sequencing of human tumors

  2012cites this paper
• The TP53 website: an integrative resource centre for the TP53 mutation database and TP53 mutant analysis

  2012cites this paper
• Environment, Epigenetics, and Diseases

  2012cites this paper
• Bioinformatic identification of genes suppressing genome instability

  2012cites this paper
• Taxane resistance in breast cancer: mechanisms, predictive biomarkers and circumvention strategies.

  2012cites this paper
• Estudo de alterações genéticas associadas à leucemia/linfoma de células T do adulto no estado da Bahia

  2012cites this paper
• Targeting FOXO3a and sirtuins in breast cancer

  2011cites this paper
• A Novel Assay for the Quantification of Active Transcription Factors

  2011cites this paper
• Epigenetics and chemoresistance in colorectal cancer: an opportunity for treatment tailoring and novel therapeutic strategies.

  2011cites this paper
• Keeping up with genetic discoveries in amyotrophic lateral sclerosis: The ALSoD and ALSGene databases

  2011cites this paper
• Epigenetic epidemiology of age-related diseases

  2011cites this paper
• Analysis of the functional integrity of the p53 tumor-suppressor gene in malignant melanoma

  2011cites this paper
• Special AT-rich Binding Protein-2 (SATB2) Differentially Affects Disease-causing p63 Mutant Proteins*

  2011cites this paper
• Inhibition of p53 DNA Binding Function by the MDM2 Protein Acidic Domain*

  2011cites this paper
• Genetic profile of adenoid cystic carcinomas (ACC) with high-grade transformation versus solid type

  2011cites this paper
• Imaging , Diagnosis , Prognosis Prognostic Significance of Truncating TP 53 Mutations in Head and Neck Squamous Cell Carcinoma

  2011cites this paper
• Identification of potential pharmacogenomic markers of clinical efficacy of 5‐fluorouracil in colorectal cancer

  2011cites this paper
• TP53 mutations in human cancer: database reassessment and prospects for the next decade.

  2011cites this paper
• Phosphorylation of p53 modifies sensitivity to ionizing radiation.

  2011cites this paper
• TP53 Mutations in Nonsmall Cell Lung Cancer

  2011cites this paper
• Head and Neck Squamous Cell Carcinoma Mutations in TP 53 Prognostic Significance of Truncating

  2011cites this paper
• Maximum likelihood analysis of mammalian p53 indicates the presence of positively selected sites and higher tumorigenic mutations in purifying sites.

  2011cites this paper
• p53 activation by blocking Snail: a novel pharmacological strategy for cancer.

  2011cites this paper
• Evaluation of HER 2 and p 53 expression in predicting response to docetaxel-based first-line chemotherapy in advanced breast cancer

  2011cites this paper