Search results for "BREAST"

showing 10 items of 1871 documents

Putative Breast Cancer Driver Mutations in TBX3 Cause Impaired Transcriptional Repression

2015

The closely related T-box transcription factors TBX2 and TBX3 are frequently overexpressed in melanoma and various types of human cancers, in particular, breast cancer. The overexpression of TBX2 and TBX3 can have several cellular effects, among them suppression of senescence, promotion of epithelial–mesenchymal transition, and invasive cell motility. In contrast, loss of function of TBX3 and most other human T-box genes causes developmental haploinsufficiency syndromes. Stephens and colleagues (1), by exome sequencing of breast tumor samples, identified five different mutations in TBX3, all affecting the DNA-binding T-domain. One in-frame deletion of a single amino acid, p.N212delN, was ob…

GeneticsCancer Researchp21frameshift mutationin-frame deletionMelanomadriver mutationTBX3Biologylcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensmedicine.diseaselcsh:RC254-282Frameshift mutationbreast cancerBreast cancerOncologymedicinesomatic mutationsHaploinsufficiencyGeneTranscription factorLoss functionExome sequencingOriginal ResearchFrontiers in Oncology
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Cytokine Gene Polymorphisms and Breast Cancer Susceptibility

2006

Human breast cancer (BC) is characterized by a considerable clinical heterogeneity. Steroid hormone receptor expression and growth factor receptor expression have been considered suitable diagnostic and prognostic markers, whereas mutations of oncosuppressor and gatekeeper genes have been found associated with an increased risk for this malignancy. To evaluate the role that polymorphisms of genes involved in the regulation of inflammatory response might play in BC susceptibility, we investigated associations between cytokine functionally relevant polymorphisms in 84 BC patients compared to 110 age- and sex-matched controls. TNF-alpha (-308G/A), TGF-beta1 (+869C/T), IL-10 (-1117G/A; -854C/T;…

GeneticsGeneral NeuroscienceHaplotypeCancerBreast NeoplasmsSingle-nucleotide polymorphismBiologymedicine.diseasePolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyBreast cancerHistory and Philosophy of ScienceGenotypemedicineCytokinesHumansbreast cancercytokine genepolymorphismsFemaleGenetic Predisposition to DiseaseRestriction fragment length polymorphismbreast cancer; cytokine polymorphisms; susceptibilityGeneAllele frequencyAnnals of the New York Academy of Sciences
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Mutational analysis ofBRCA1andBRCA2in Mediterranean Spanish women with early-onset breast cancer: Identification of three novel pathogenic mutations

2003

In Spain, the contribution of BRCA mutations to the population incidence of early-onset breast cancer was unknown. We carried out a mutational analysis of the BRCA1 and BRCA2 genes in 124 Spanish women diagnosed with breast cancer before the age 41 and who were not selected for a family history of this disease. The genetic study was performed by PCR-SSCP analysis and DNA sequencing. We identified 6 pathogenic BRCA mutations in 7 unrelated probands (5.6%; 95% CI=2.3% to 11.3%): 1 BRCA1 (c.2080delA) and 5 BRCA2 (p.Y3006X, p.Q1994X, c.9204_9217del14, c.9254_9258del5 and c.295+2T>C). Three out of 6 mutations were novel (BRCA2 p.Y3006X, c.9204_9217del14, and c.295+2T>C), and two further mutation…

GeneticsMutationeducation.field_of_studyendocrine system diseasesPopulationCancerBiologymedicine.disease_causemedicine.diseasefemale genital diseases and pregnancy complicationsGermline mutationBreast cancerDNA Mutational AnalysisGeneticsmedicineMissense mutationFamily historyskin and connective tissue diseaseseducationGenetics (clinical)Human Mutation
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Analysis ofBRCA1andBRCA2genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effec…

2003

We screened index cases from 410 Spanish breast/ovarian cancer families and 214 patients (19 of them males) with breast cancer for germ-line mutations in the BRCA1 and BRCA2 genes, using SSCP, PTT, CSGE, DGGE, and direct sequencing. We identified 60 mutations in BRCA1 and 53 in BRCA2. Of the 53 distinct mutations observed, 11 are novel and 12 have been reported only in Spanish families (41.5%). The prevalence of mutations in this set of families was 26.3%, but the percentage was higher in the families with breast and ovarian cancer (52.1%). The lowest proportion of mutations was found in the site-specific female breast cancer families (15.4%). Of the families with male breast cancer cases, …

GeneticsMutationendocrine system diseasesCancerSingle-strand conformation polymorphismBiologymedicine.diseasemedicine.disease_causeGermline mutationBreast cancerMale breast cancerGeneticsmedicineskin and connective tissue diseasesOvarian cancerGenetics (clinical)Founder effectHuman Mutation
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Analysis of interleukin 10 (IL-10) -1082G/A single nucleotide polymorphism (SNP) genotypes in breast cancer (BC) patients (pts) and in >95 years o…

2005

9656 Background:the anti-inflammatory IL-10 -1082 (G/A) SNP might be associated with different risk for breast tumor development. The -1082GG homozygous genotype is associated with an higher IL-10 ...

GeneticsOncologyCancer Researchmedicine.medical_specialtybusiness.industryHomozygous genotypeCancer-FreeSingle-nucleotide polymorphismmedicine.diseaseBreast tumorInterleukin 10Breast cancerOncologyInternal medicineGenotypemedicineSNPbusinessJournal of Clinical Oncology
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Hormonal and lifestyle factors as modifiers of risk of breast cancer (BC) in BRCA1 and BRCA2 carriers (C).

2015

1560 Background: Mutations in the BRCA1/2 genes confer a high lifetime risk of BC. Penetrance varies among populations and individuals suggesting that non-genetic factors may modify the inherited r...

GeneticsOncologyCancer Researchmedicine.medical_specialtybusiness.industrymedicine.diseasePenetranceBreast cancerLifestyle factorsOncologyInternal medicinemedicineLifetime riskbusinessHormoneJournal of Clinical Oncology
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Hypoxia and Human Genome Stability: Downregulation of BRCA2 Expression in Breast Cancer Cell Lines

2013

Previously, it has been reported that hypoxia causes increased mutagenesis and alteration in DNA repair mechanisms. In 2005, an interesting study showed that hypoxia-induced decreases in BRCA1 expression and the consequent suppression of homologous recombination may lead to genetic instability. However, nothing is yet known about the involvement of BRCA2 in hypoxic conditions in breast cancer. Initially, a cell proliferation assay allowed us to hypothesize that hypoxia could negatively regulate the breast cancer cell growth in short term in vitro studies. Subsequently, we analyzed gene expression in breast cancer cell lines exposed to hypoxic condition by microarray analysis. Interestingly,…

Genome instabilityDNA RepairArticle SubjectDNA repairDNA damageSettore MED/06 - Oncologia MedicaDown-Regulationlcsh:MedicineBreast NeoplasmsBiologyGeneral Biochemistry Genetics and Molecular BiologyGenomic InstabilityBreast cancerCell Line TumorBreast CancermedicineHumansEnzyme Inhibitorsskin and connective tissue diseasesHypoxiaBiologyGeneral Immunology and MicrobiologyBRCA1 ProteinGenome Humanlcsh:RGenome StabilityGeneral MedicineDNA repair protein XRCC4medicine.diseaseBRCA2Cell HypoxiaAmino Acids DicarboxylicGene Expression Regulation NeoplasticCancer researchDNA mismatch repairFemaleHuman medicineHypoxia; Genome Stability; BRCA2; Breast CancerHomologous recombinationEngineering sciences. TechnologyNucleotide excision repairResearch ArticleDNA Damage
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Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.

2014

Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regressionmodels adjusting for stud…

Genotyping TechniquesResearch Support U.S. Gov't P.H.S.CASP8 and FADD-Like Apoptosis Regulating ProteinGenome-wide association studyP.H.S.Medical and Health SciencesBreast and Ovarian Cancer Susceptibility (BOCS) StudyMedizinische FakultätGenetics(clinical)Non-U.S. Gov'tGenetics (clinical)GeneticsGenetics & HeredityvariantsCaspase 8Research Support Non-U.S. Gov'tAssociation Studies ArticlesGeneral MedicineBiological Sciencesddc:Chromosomes Human Pair 2kConFab InvestigatorsFemaleGENICA NetworkAustralian Ovarian Cancer Study GroupEuropean Continental Ancestry GroupNon-P.H.S.Single-nucleotide polymorphismBreast Neoplasms-BiologyResearch SupportPolymorphism Single NucleotideWhite PeopleN.I.H.Breast cancerResearch Support N.I.H. ExtramuralSDG 3 - Good Health and Well-beingmedicineGeneticsJournal ArticleHumansGenetic Predisposition to Diseaseddc:610geneGenotyping TechniquesGenotypingMolecular BiologyGenetic associationdiseaseExtramuralProteinsOdds ratiomedicine.diseasesusceptibility lociMinor allele frequencyCase-Control Studiesgenome-wide associationenhancersU.S. Gov'tcasp8Research Support U.S. Gov't Non-P.H.S.Genome-Wide Association Study
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Influence des facteurs socio-économiques et géographiques sur l'incidence, l'accès aux soins et la survie des femmes atteintes d'un cancer du sein

2012

In developed countries, breast cancer is currently the leading cancer in women in terms of incidence and mortality (standardized rate of 101.5 and 17.7 per 100,000 person-years in 2005, respectively). Many risk factors and prognostic factors have been studied and are well known. Research is under way with regard to every step in the development of breast cancer, but the impact of socio-economic and geographic factors, at the individual and environmental level with regard to the disease have never been studied in France.The general aim of this work was to explore the impact of these factors in different ways to build on our knowledge and to develop practical applications in the primary, seco…

Geographic isolationRégression logistiquesSurvivalEpidemiologyLogistic regressionPrognostic factorsSocio-economic levelBreast cancerFacteurs de risque[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologyFacteurs pronostiquesTraitementCancer du seinMultilevel models[SDV.MHEP] Life Sciences [q-bio]/Human health and pathologyIncidenceNiveau socio-économiqueSurvival analysesCoxModèles multiniveauxKaplan MeierAnalyses de survieTreatmentÉpidémiologieRisk factorsSurvieÉloignement géographique[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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Impact of age-related socio-economic and clinical determinants of quality of life among long-term breast cancer survivors.

2015

a b s t r a c t Objectives: The main purpose of this study was to identify age-related socioeconomic and clinical deter- minants of quality of life among breast cancer survivors five years after the diagnosis. The secondary objective was to describe quality of life in the studied population according to age. Study design: A cross-sectional survey in five-year breast cancer survivors was conducted in women diagnosed with breast cancer in 2007 and 2008 in Cote d'Or. Main outcome measures: Quality of life was assessed with the SF-12, the EORTC-QLQ-C30 and the EORTC- QLQ-BR23 questionnaires. Socio-economic deprivation was assessed by the EPICES questionnaire. Social support was assessed by the …

GerontologyAdultCross-sectional studyPopulationBreast NeoplasmsComorbidityGeneral Biochemistry Genetics and Molecular BiologySocial supportBreast cancerQuality of lifeSurveys and QuestionnairesMedicineHumansSurvivorseducationSocioeconomic statusPovertyAgedAged 80 and overeducation.field_of_studybusiness.industryAge FactorsObstetrics and GynecologySocial SupportMiddle Agedmedicine.diseaseComorbidityCross-Sectional StudiesSocioeconomic FactorsQuality of LifeFemaleNeoplasm Recurrence LocalbusinessBody mass indexMaturitas
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