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AUTHOR

Miguel Urioste

showing 2 related works from this author

A common SNP in the UNG gene decreases ovarian cancer risk in BRCA2 mutation carriers

2018

Single nucleotide polymorphisms (SNPs) in DNA glycosylase genes involved in the base excision repair (BER) pathway can modify breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We previously found that SNP rs34259 in the uracil-DNA glycosylase gene (UNG) might decrease ovarian cancer risk in BRCA2 mutation carriers. In the present study, we validated this finding in a larger series of familial breast and ovarian cancer patients to gain insights into how this UNG variant exerts its protective effect. We found that rs34259 is associated with significant UNG downregulation and with lower levels of DNA damage at telomeres. In addition, we found that this SNP is associated with…

0301 basic medicineCancer Researchmedicine.medical_specialtyendocrine system diseasesUracil-DNA glycosylaseEuropean Regional Development Fundlcsh:RC254-282Polymorphism Single Nucleotide03 medical and health sciences0302 clinical medicineBRCA2 MutationRisk FactorsPolitical scienceHealthy volunteersGeneticsmedicineHumansSNPGenetic Predisposition to DiseaseUracil-DNA Glycosidaseskin and connective tissue diseasesResearch ArticlesBRCA2 ProteinOvarian NeoplasmsNetwork onOxidative stress susceptibilityGeneral MedicineMiddle Agedlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensmedicine.diseaseBRCA2female genital diseases and pregnancy complicationsuracil‐DNA glycosylase030104 developmental biologyCancer risk modifierOncology030220 oncology & carcinogenesisFamily medicineMutationMolecular MedicineDNA damageFemaleChristian ministryTelomere damageOvarian cancerHuman cancerResearch Article
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Epigenetic differences arise during the lifetime of monozygotic twins.

2005

Monozygous twins share a common genotype. However, most monozygotic twin pairs are not identical; several types of phenotypic discordance may be observed, such as differences in susceptibilities to disease and a wide range of anthropomorphic features. There are several possible explanations for these observations, but one is the existence of epigenetic differences. To address this issue, we examined the global and locus-specific differences in DNA methylation and histone acetylation of a large cohort of monozygotic twins. We found that, although twins are epigenetically indistinguishable during the early years of life, older monozygous twins exhibited remarkable differences in their overall…

AdultMalemedicine.medical_specialtyADNRestriction MappingTwinsMonozygotic twinX-inactivationEpigenesis GeneticHistonesX Chromosome InactivationSurveys and QuestionnairesGenotypemedicineHumansEpigeneticsOligonucleotide Array Sequence AnalysisGeneticsAnalysis of VarianceMultidisciplinarybiologyReverse Transcriptase Polymerase Chain ReactionElectrophoresis CapillaryGene Expression Regulation DevelopmentalAcetylationNucleic acid amplification techniqueDNASequence Analysis DNATwins MonozygoticDNA MethylationExpressió gènicaFenotipHistonePhenotypeSpainDNA methylationbiology.protein5-MethylcytosineCommentaryMedical geneticsBessonsFemaleGene expressionNucleic Acid Amplification TechniquesProceedings of the National Academy of Sciences of the United States of America
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