0000000000562704

AUTHOR

Diana Eccles

showing 7 related works from this author

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers

2012

Introduction: Cis-acting regulatory single nucleotide polymorphisms (SNPs) at specific loci may modulate penetrance of germline mutations at the same loci by introducing different levels of expression of the wild-type allele. We have previously reported that BRCA2 shows differential allelic expression and we hypothesize that the known variable penetrance of BRCA2 mutations might be associated with this mechanism. Methods: We combined haplotype analysis and differential allelic expression of BRCA2 in breast tissue to identify expression haplotypes and candidate cis-regulatory variants. These candidate variants underwent selection based on in silico predictions for regulatory potential and di…

HeterozygoteColorectal-cancerPredisposition[SDV.CAN]Life Sciences [q-bio]/CancerSingle-nucleotide polymorphismRegulatory Sequences Nucleic AcidBiologyPolymorphism Single NucleotideAssociation03 medical and health sciences0302 clinical medicineBreast cancerGermline mutation[SDV.CAN] Life Sciences [q-bio]/CancerReference ValuesmedicineHumansGenetic Predisposition to DiseaseAllelic imbalanceGene-expressionAllelePromoter Regions Geneticskin and connective tissue diseases030304 developmental biologyMedicine(all)BRCA2 ProteinGenetics0303 health sciencesHuman genomeCarcinomaHaplotypemedicine.diseasePenetranceCommon3. Good healthGene Expression Regulation NeoplasticMinor allele frequencyGene Expression RegulationHaplotypesRegulatory sequence030220 oncology & carcinogenesisBeadarrayCancer researchFemaleCell-lineTranscription FactorsResearch ArticleBreast Cancer Research
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Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

2012

Germline mutations in BRCA1 and BRCA2 are associated with increased risks of breast and ovarian cancer. A genome-wide association study (GWAS) identified six alleles associated with risk of ovarian cancer for women in the general population. We evaluated four of these loci as potential modifiers of ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Four single-nucleotide polymorphisms (SNPs), rs10088218 (at 8q24), rs2665390 (at 3q25), rs717852 (at 2q31), and rs9303542 (at 17q21), were genotyped in 12,599 BRCA1 and 7,132 BRCA2 carriers, including 2,678 ovarian cancer cases. Associations were evaluated within a retrospective cohort approach. All four loci were associated with ovarian …

Oncologyendocrine system diseases[SDV]Life Sciences [q-bio]Càncer d'ovariDCN PAC - Perception action and controlCohort StudiesBreast cancer0302 clinical medicinebrca1brca2Odds RatioGenetics (clinical)ComputingMilieux_MISCELLANEOUSOvarian NeoplasmsGenetics0303 health scienceseducation.field_of_studyBRCA1 ProteinHazard ratioMiddle Aged3. Good healthovarian cancer030220 oncology & carcinogenesisFemaleAdultHeterozygotemedicine.medical_specialtyHereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1]PopulationSingle-nucleotide polymorphismBiologyOvarian Neoplasms - geneticsPolymorphism Single NucleotideArticleCàncer de mama03 medical and health sciencesBreast cancerGermline mutationSDG 3 - Good Health and Well-beingTranslational research [ONCOL 3]Ovarian cancerInternal medicineGeneticsmedicineHumansGenetic Predisposition to Diseaseddc:610Genetics and epigenetic pathways of disease Translational research [NCMLS 6]educationRetrospective Studies030304 developmental biologyBRCA2 ProteinHereditary cancer and cancer-related syndromes [ONCOL 1]associationRetrospective cohort studysnpOdds ratioBRCA1 Protein - geneticsmedicine.diseaseBRCA2 Protein - geneticsMutationOvarian cancerbrca2; snp; brca1; association; ovarian cancer
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Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

2013

Journal article TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ~480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10!-7), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10!-8) and BRCA1 mutation carrier (P = 1.1 × 10!-5) breast cancers and altered promot…

TelomeraseMessengerCàncer d'ovariEstrogen receptorAetiology screening and detection [ONCOL 5]0302 clinical medicineBreast cancerRisk FactorsAlternative Splicing; Biomarkers Tumor; Breast Neoplasms; Case-Control Studies; Chromatin; DNA Methylation; Female; Gene Expression Profiling; Genetic Loci; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Luciferases; Oligonucleotide Array Sequence Analysis; Ovarian Neoplasms; Polymorphism Single Nucleotide; RNA Messenger; Real-Time Polymerase Chain Reaction; Reverse Transcriptase Polymerase Chain Reaction; Risk Factors; Telomerase; Telomere; GeneticsGenotypeBUCCAL CELLSLuciferasesTelomeraseOligonucleotide Array Sequence AnalysisOvarian Neoplasms0303 health sciencesTumorTelòmerReverse Transcriptase Polymerase Chain ReactionGENETIC-VARIATIONCOMMON VARIANTSSingle Nucleotidetert-clptm1l locus; genome-wide association; genetic-variation; susceptibility loci; buccal cells; fibroblasts; common variants; carcinoma; reverse-transcriptase htert; metaanalysisTelomereAetiology screening and detection Immune Regulation [ONCOL 5]Chromatin3. Good healthTumor Markers Biological030220 oncology & carcinogenesisFemaleFIBROBLASTSGenotypeSUSCEPTIBILITY LOCICARCINOMASingle-nucleotide polymorphismBreast NeoplasmsBiologyReal-Time Polymerase Chain ReactionPolymorphism Single NucleotideArticleCàncer de mama03 medical and health sciencesBreast cancerSDG 3 - Good Health and Well-beingTranslational research [ONCOL 3]Ovarian cancermedicineGeneticsBiomarkers TumorHumansGenetic Predisposition to DiseaseRNA MessengerPolymorphismAlleleGENOME-WIDE ASSOCIATIONMETAANALYSIS030304 developmental biologyMolecular epidemiology Aetiology screening and detection [NCEBP 1]Breast cancer susceptibilityHereditary cancer and cancer-related syndromes [ONCOL 1]Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3]Gene Expression ProfilingDNA Methylationmedicine.diseaseMolecular biologyTERT-CLPTM1L LOCUSTelomereMinor allele frequencyAlternative SplicingGenetic LociCase-Control StudiesRNABiomarkersREVERSE-TRANSCRIPTASE HTERTGenome-Wide Association StudyNature genetics
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Genome-wide association studies identify four ER negative-specific breast cancer risk loci

2013

Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a metaanalysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environm…

Oncologygenetic associationbody-mass indexEstrogen receptorGenome-wide association studycancer riskBioinformaticssusceptibilitychromosome 1q0302 clinical medicineRisk Factorssingle nucleotide polymorphismGenotypeestrogenCooperative Behaviorcomparative studyOligonucleotide Array Sequence Analysis0303 health scienceschromosome 16q3. Good healthReceptors Estrogenpriority journal030220 oncology & carcinogenesisFemalecancer invasionsignal transductionbreast cancer; cancer invasion; cancer risk; chromosome 1; chromosome 16q; chromosome 1q; chromosome 2p; comparative study; follow up; gene locus; genetic association; genetic susceptibility; human; nucleotide sequence; priority journal; signal transduction; single nucleotide polymorphismmedicine.medical_specialtyGenotypegene locusBreast NeoplasmsSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideArticle03 medical and health sciencesBreast cancerbreast cancerMeta-Analysis as TopicSDG 3 - Good Health and Well-beingInternal medicineexpressionGeneticsmedicineGenetic predispositionHumansfollow upGenetic Predisposition to Diseasehumanchromosome 1gene030304 developmental biologyCase-control studyCancernucleotide sequencemedicine.diseasechromosome 2pGenetic LociCase-Control Studiescommon variantGenome-Wide Association Studygenetic susceptibilityNature Genetics
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Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study…

2020

BACKGROUND: Lynch syndrome is associated with an increased risk of colorectal cancer and with a broader spectrum of cancers, especially endometrial cancer. In 2011, our group reported long-term cancer outcomes (mean follow-up 55·7 months [SD 31·4]) for participants with Lynch syndrome enrolled into a randomised trial of daily aspirin versus placebo. This report completes the planned 10-year follow-up to allow a longer-term assessment of the effect of taking regular aspirin in this high-risk population.METHODS: In the double-blind, randomised CAPP2 trial, 861 patients from 43 international centres worldwide (707 [82%] from Europe, 112 [13%] from Australasia, 38 [4%] from Africa, and four [&l…

RESISTANT STARCHPlacebo-controlled study030204 cardiovascular system & hematology0302 clinical medicineLife Tables030212 general & internal medicine11 Medical and Health Sciencesmedia_commonRISKAspirineducation.field_of_studyAnti-Inflammatory Agents Non-SteroidalLOW-DOSE ASPIRINGeneral MedicineLynch syndrome3. Good healthIntention to Treat AnalysisAnti-Inflammatory Agents Non-Steroidal/adverse effectsmedicine.drugCHEMOPREVENTIONmedicine.medical_specialtyHeterozygote3122 CancersPopulationNEOPLASIAAspirin/adverse effectsPlaceboCAPP2 InvestigatorsMedication Adherence03 medical and health sciencesDouble-Blind MethodInternal medicineGeneral & Internal MedicineColorectal Neoplasms Hereditary Nonpolyposis/geneticsBENEFITSmedicinemedia_common.cataloged_instanceHumansEuropean unioneducationProportional Hazards ModelsIntention-to-treat analysisCancer preventionAspirinbusiness.industryMORTALITY3126 Surgery anesthesiology intensive care radiologymedicine.diseaseColorectal Neoplasms Hereditary NonpolyposisbusinessFollow-Up Studies
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Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

2014

Introduction More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are differences in the association patterns between BRCA1 and BRCA2 mutation carriers and the general population for several loci, no study has comprehensively evaluated the associations of all known BC susceptibility alleles with risk of BC subtypes in BRCA1 and BRCA2 carriers. Methods We used data from 15,252 BRCA1 and 8,211 BRCA2 carriers to analyze the associations between approximately 200,000 genetic variants on the iCOGS array and risk of BC subtypes defined by estrogen re…

Cancer ResearchReceptor ErbB-2Genes BRCA2BRCALOCIGenes BRCA1MODIFIERSVARIANTSErbB-2610 Medical sciences MedicineDuctalReceptorsMedicine and Health SciencesINVESTIGATORSBreastskin and connective tissue diseasesProgesteroneMedicine(all)Carcinoma Ductal BreastMiddle AgedAdult; Aged; Alleles; Breast Neoplasms; Carcinoma; Carcinoma Ductal Breast; Carcinoma Lobular; Female; Genetic Predisposition to Disease; Heterozygote; Humans; Middle Aged; Neoplasm Grading; Neoplasm Staging; Receptor ErbB-2; Receptors Estrogen; Receptors Progesterone; Genes BRCA1; Genes BRCA2; Cancer Research; OncologyOncologyReceptors EstrogenTUMOR SUBTYPESFemaleReceptors ProgesteroneReceptorResearch ArticleAdultHeterozygote610Breast NeoplasmsMEDULLARY CARCINOMAOVARIAN-CANCERLobularHumansGenetic Predisposition to DiseaseGENOME-WIDE ASSOCIATIONAllelesAgedNeoplasm StagingAdult; Aged; Alleles; Breast Neoplasms; Carcinoma; Carcinoma Ductal Breast; Carcinoma Lobular; Female; Genetic Predisposition to Disease; Heterozygote; Humans; Middle Aged; Neoplasm Grading; Neoplasm Staging; Receptor ErbB-2; Receptors Estrogen; Receptors Progesterone; Genes BRCA1; Genes BRCA2CONSORTIUMCarcinomaBRCA1EstrogenBRCA2Carcinoma LobularESTROGEN-RECEPTORGenesNeoplasm GradingBreast Cancer Research
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Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial : Planned 10-Year Follow-up

2022

Abstract The CAPP2 trial investigated the long-term effects of aspirin and resistant starch on cancer incidence in patients with Lynch syndrome (LS). Participants with LS were randomized double-blind to 30 g resistant starch (RS) daily or placebo for up to 4 years. We present long-term cancer outcomes based on the planned 10-year follow-up from recruitment, supplemented by National Cancer Registry data to 20 years in England, Wales, and Finland. Overall, 463 participants received RS and 455 participants received placebo. After up to 20 years follow-up, there was no difference in colorectal cancer incidence (n = 52 diagnosed with colorectal cancer among those randomized to RS against n = 53…

Cancer ResearchLIVER3122 CancerstärkkelysCOLORECTAL-CANCERBUTYRATESDG 3 - Good Health and Well-beingasetyylisalisyylihappoHumansLynchin oireyhtymäpaksusuolisyöpäRISKIncidenceCOLON-CANCERResistant StarchColorectal Neoplasms/drug therapyCONSUMPTIONColorectal Neoplasms Hereditary NonpolyposisASPIRINMICROBIOMEOncologyAspirin/therapeutic useCELLSDIETARY FIBER INTAKE/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingsyöpätauditennaltaehkäisyseurantatutkimusColorectal Neoplasms Hereditary Nonpolyposis/complicationsColorectal NeoplasmsilmaantuvuusFollow-Up Studies
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