2013
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer
Purrington K, Slager S, Eccles D, Yannoukakos D, Fasching P, Miron P, Carpenter J, Chang-Claude J, Martin N, Montgomery G, Kristensen V, Anton-Culver H, Goodfellow P, Tapper W, Rafiq S, Gerty S, Durcan L, Konstantopoulou I, Fostira F, Vratimos A, Apostolou P, Konstanta I, Kotoula V, Lakis S, Dimopoulos M, Skarlos D, Pectasides D, Fountzilas G, Beckmann M, Hein A, Ruebner M, Ekici A, Hartmann A, Schulz-Wendtland R, Renner S, Janni W, Rack B, Scholz C, Neugebauer J, Andergassen U, Lux M, Haeberle L, Clarke C, Pathmanathan N, Rudolph A, Flesch-Janys D, Nickels S, Olson J, Ingle J, Olswold C, Slettedahl S, Eckel-Passow J, Anderson S, Visscher D, Cafourek V, Sicotte H, Prodduturi N, Weiderpass E, Bernstein L, Ziogas A, Ivanovich J, Giles G, Baglietto L, Southey M, Kosma V, Fischer H, Network T, Reed M, Cross S, Deming-Halverson S, Shrubsole M, Cai Q, Shu X, Daly M, Weaver J, Ross E, Klemp J, Sharma P, Torres D, Rüdiger T, Wölfing H, Ulmer H, Försti A, Khoury T, Kumar S, Pilarski R, Shapiro C, Greco D, Heikkilä P, Aittomäki K, Blomqvist C, Irwanto A, Liu J, Pankratz V, Wang X, Severi G, Mannermaa A, Easton D, Hall P, Brauch H, Cox A, Zheng W, Godwin A, Hamann U, Ambrosone C, Toland A, Nevanlinna H, Vachon C, Couch F. Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer. Carcinogenesis 2013, 35: 1012-1019. PMID: 24325915, PMCID: PMC4004200, DOI: 10.1093/carcin/bgt404.Peer-Reviewed Original ResearchConceptsTN breast cancerTriple-negative breast cancerBreast cancerBreast cancer susceptibility lociRisk factorsPolygenic risk scoresSingle nucleotide polymorphismsGenome-wide association studiesBreast cancer riskCancer susceptibility lociBreast cancer risk predictionGenetic risk factorsCancer risk predictionAbsolute riskAggressive subtypeAssociation studiesTwo-stage genome-wide association studyCancer riskRisk scoreSusceptibility lociGenome-wide significant associationSignificant associationCancerBreast cancer risk variantsPTHLH locus
2009
Modification of Ovarian Cancer Risk by BRCA1/2-Interacting Genes in a Multicenter Cohort of BRCA1/2 Mutation Carriers
Rebbeck T, Mitra N, Domchek S, Wan F, Chuai S, Friebel T, Panossian S, Spurdle A, Chenevix-Trench G, Singer C, Pfeiler G, Neuhausen S, Lynch H, Garber J, Weitzel J, Isaacs C, Couch F, Narod S, Rubinstein W, Tomlinson G, Ganz P, Olopade O, Tung N, Blum J, Greenberg R, Nathanson K, Daly M. Modification of Ovarian Cancer Risk by BRCA1/2-Interacting Genes in a Multicenter Cohort of BRCA1/2 Mutation Carriers. Cancer Research 2009, 69: 5801-5810. PMID: 19584272, PMCID: PMC2751603, DOI: 10.1158/0008-5472.can-09-0625.Peer-Reviewed Original ResearchMeSH KeywordsAcid Anhydride HydrolasesAdultAgedAged, 80 and overAtaxia Telangiectasia Mutated ProteinsBRCA1 ProteinBRCA2 ProteinCarrier ProteinsCell Cycle ProteinsDNA Repair EnzymesDNA-Binding ProteinsEndodeoxyribonucleasesFanconi Anemia Complementation Group ProteinsFemaleGene FrequencyGenotypeHaplotypesHeterozygoteHumansMiddle AgedMRE11 Homologue ProteinMutationNuclear ProteinsOvarian NeoplasmsPolymorphism, Single NucleotideProtein Serine-Threonine KinasesRad51 RecombinaseRisk FactorsRNA HelicasesTumor Suppressor ProteinsUbiquitin-Protein LigasesConceptsAssociated with ovarian cancer riskOvarian cancer riskBRCA1/2 mutation carriersCancer riskMutation carriersElevated ovarian cancer riskOvarian cancer risk assessmentBRCA1/2 mutationsInherited BRCA1/2 mutationsBRCA2 mutation carriersCancer risk assessmentStatistically significant associationBRCA2 carriersBRCA1 carriersEvaluated haplotypesKnowledge of factorsHaplotype associationSignificant associationOvarian cancerRare haplotypesMulticenter cohortBRCA2BRIP1BRCA1/2Haplotypes