0000000000981856

AUTHOR

A. De Pauw

showing 2 related works from this author

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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Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

2010

Abstract The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carrie…

OncologyCancer Researchendocrine system diseasesVesicular Transport ProteinsGene mutation0302 clinical medicineRisk FactorsGenotypeskin and connective tissue diseasesAged 80 and over0303 health sciencesBRCA1 ProteinHigh Mobility Group ProteinsMiddle Aged3. Good healthOncology030220 oncology & carcinogenesisFemaleBreast diseaseReceptors ProgesteroneAdultHeterozygotemedicine.medical_specialtyGenotypeBreast NeoplasmsSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideRisk AssessmentArticle03 medical and health sciencesBreast cancerSDG 3 - Good Health and Well-beingInternal medicinemedicineHumansGenetic Predisposition to DiseaseAllelesAged030304 developmental biologyBRCA2 ProteinHereditary cancer and cancer-related syndromes [ONCOL 1]Sodium-Bicarbonate SymportersHaplotypeCancergenome-wide association estrogen-receptor loci variantsmedicine.diseaseSurvival AnalysisTOX3MutationTrans-ActivatorsCancer researchApoptosis Regulatory Proteins
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