0000000000395643

AUTHOR

Susan Peock

showing 4 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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Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

2011

[Background]: Germline mutations in the BRCA1 and BRCA2 genes are associated with increased risks of breast and ovarian cancers. Although several common variants have been associated with breast cancer susceptibility in mutation carriers, none have been associated with ovarian cancer susceptibility. A genome-wide association study recently identified an association between the rare allele of the single-nucleotide polymorphism (SNP) rs3814113 (ie, the C allele) at 9p22.2 and decreased risk of ovarian cancer for women in the general population. We evaluated the association of this SNP with ovarian cancer risk among BRCA1 or BRCA2 mutation carriers by use of data from the Consortium of Investi…

OncologyCancer Researchendocrine system diseasesGenes BRCA2Genes BRCA1Genome-wide association studyFAMILIES0302 clinical medicineRisk FactorsRetrospective StudieGenotypeOdds Ratioskin and connective tissue diseasesPOPULATIONGeneticsOvarian NeoplasmsAged 80 and overAllele0303 health scienceseducation.field_of_studyLikelihood FunctionsArticlesGERMLINE MUTATIONSMiddle AgedLikelihood Functionfemale genital diseases and pregnancy complications3. Good healthOncology030220 oncology & carcinogenesisFemaleChromosomes Human Pair 9HumanAdult[SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT]medicine.medical_specialtyHeterozygoteSUSCEPTIBILITY LOCIGenotypePROTEINSPopulationBiologyPolymorphism Single NucleotideBASONUCLIN-203 medical and health sciencesBreast cancerGermline mutationSDG 3 - Good Health and Well-beingInternal medicinemedicineBREAST-CANCERHumansGENOME-WIDE ASSOCIATIONeducationAllelesGerm-Line Mutation030304 developmental biologyRetrospective StudiesAgedIDENTIFICATIONRisk FactorOvarian NeoplasmEditorialsCancermedicine.diseaseMinor allele frequencyOvarian 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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Reproductive and Hormonal Factors, and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers: Results from the International BRCA1/2 Carrier Coho…

2009

Abstract Background: Several reproductive and hormonal factors are known to be associated with ovarian cancer risk in the general population, including parity and oral contraceptive (OC) use. However, their effect on ovarian cancer risk for BRCA1 and BRCA2 mutation carriers has only been investigated in a small number of studies. Methods: We used data on 2,281 BRCA1 carriers and 1,038 BRCA2 carriers from the International BRCA1/2 Carrier Cohort Study to evaluate the effect of reproductive and hormonal factors on ovarian cancer risk for mutation carriers. Data were analyzed within a weighted Cox proportional hazards framework. Results: There were no significant differences in the risk of ova…

AdultOncologymedicine.medical_specialtyendocrine system diseasesSterilization TubalEpidemiologyPopulationCohort StudiesPregnancyRisk FactorsInternal medicinemedicineHumanseducationProportional Hazards ModelsBRCA2 ProteinOvarian NeoplasmsGynecologyTubal ligationeducation.field_of_studyBRCA1 Proteinbusiness.industryProportional hazards modelHazard ratioCancerMiddle Agedmedicine.diseasefemale genital diseases and pregnancy complicationsParityOncologyMutationFemalebusinessRisk assessmentOvarian cancerContraceptives OralCohort studyCancer Epidemiology, Biomarkers & Prevention
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