0000000000940680

AUTHOR

Georgia Chenevix-trench

showing 15 related works from this author

Additional file 5: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of invasive BRCA1 female and male breast tumours and ORs in predicting male BRCA1 mutation carrier status. (DOCX 19 kb)

endocrine system diseasesskin and connective tissue diseases3. Good health
researchProduct

Additional file 1: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Male BRCA1 and BRCA2 mutation carriers by study group/country. (DOCX 21 kb)

endocrine system diseasesskin and connective tissue diseasesneoplasmsfemale genital diseases and pregnancy complications3. Good health
researchProduct

Additional file 4: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of BRCA1 and BRCA2 MBCs and ORs in predicting BRCA2 mutation carrier status. (DOCX 20 kb)

endocrine system diseasespolycyclic compoundsskin and connective tissue diseasesneoplasmsfemale genital diseases and pregnancy complications3. Good health
researchProduct

Additional file 3: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Methods and thresholds used to define the final marker variables for study groups providing MBC cases. (DOCX 20 kb)

3. Good health
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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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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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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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Additional file 2: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

List of local ethics committees that granted approval for the access and use of the data in present study. (DOCX 23 kb)

3. Good health
researchProduct

Additional file 6: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of invasive MBCs in the general population from SEER and BRCA1 MBCs and ORs in predicting male BRCA1 mutation carrier status. (DOCX 19 kb)

polycyclic compoundsbacteriabiochemical phenomena metabolism and nutritionbacterial infections and mycosesskin and connective tissue diseases3. Good health
researchProduct

Additional file 3: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Methods and thresholds used to define the final marker variables for study groups providing MBC cases. (DOCX 20 kb)

3. Good health
researchProduct

Additional file 2: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

List of local ethics committees that granted approval for the access and use of the data in present study. (DOCX 23 kb)

3. Good health
researchProduct

Additional file 1: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Male BRCA1 and BRCA2 mutation carriers by study group/country. (DOCX 21 kb)

endocrine system diseasesskin and connective tissue diseasesneoplasmsfemale genital diseases and pregnancy complications3. Good health
researchProduct

Additional file 4: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of BRCA1 and BRCA2 MBCs and ORs in predicting BRCA2 mutation carrier status. (DOCX 20 kb)

endocrine system diseasespolycyclic compoundsskin and connective tissue diseasesneoplasmsfemale genital diseases and pregnancy complications3. Good health
researchProduct

Additional file 5: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of invasive BRCA1 female and male breast tumours and ORs in predicting male BRCA1 mutation carrier status. (DOCX 19 kb)

endocrine system diseasesskin and connective tissue diseases3. Good health
researchProduct

Additional file 6: of Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BR…

2016

Pathology of invasive MBCs in the general population from SEER and BRCA1 MBCs and ORs in predicting male BRCA1 mutation carrier status. (DOCX 19 kb)

polycyclic compoundsbacteriabiochemical phenomena metabolism and nutritionbacterial infections and mycosesskin and connective tissue diseases3. Good health
researchProduct