2015
Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation
Gronwald J, Glass K, Rosen B, Karlan B, Tung N, Neuhausen S, Moller P, Ainsworth P, Sun P, Narod S, Lubinski J, Kotsopoulos J, Group B, Lynch H, Cybulski C, Kim-Sing C, Friedman S, Senter L, Weitzel J, Singer C, Eng C, Mitchell G, Huzarski T, McCuaig J, Eisen A, Gilchrist D, Blum J, Zakalik D, Pal T, Daly M, Weber B, Snyder C, Fallen T, Chudley A, Lunn J, Donenberg T, Kurz R, Saal H, Garber J, Rennert G, Sweet K, Rappaport C, Lemire E, Stoppa-Lyonnet D, Olopade O, Merajver S, Bordeleau L, Cullinane C, Friedman E, McKinnon W, Wood M, Rayson D, Meschino W, Costalas J, Reilly R, Vadaparampil S, Offit K, Kauff N, Euhus D, Kwong A, Isaacs C, Couch F, Manoukian S, Byrski T, Elser C, Panchal S, Armel S, Demsky R, Nanda S, Metcalfe K, Poll A, Foulkes W, Robidoux A, Warner E, Maehle L, Evans G, Pasini B, Ginsburg O, Cohen S, Jakubowska A, Little J. Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation. Fertility And Sterility 2015, 105: 781-785. PMID: 26698676, DOI: 10.1016/j.fertnstert.2015.11.034.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedBRCA1 ProteinBRCA2 ProteinCase-Control StudiesChi-Square DistributionDNA Mutational AnalysisFemaleFertilityFertility Agents, FemaleFertilization in VitroGenetic Predisposition to DiseaseHumansInfertilityInsemination, ArtificialLogistic ModelsMiddle AgedMultivariate AnalysisMutationOdds RatioOvarian NeoplasmsPregnancyReproductive Techniques, AssistedRisk AssessmentRisk FactorsSurveys and QuestionnairesTreatment OutcomeYoung AdultConceptsRisk of ovarian cancerOvarian cancerTreatment of infertilityBRCA2 mutationsEstimate odds ratiosBRCA2 mutation carriersConditional logistic regressionFertility medicationsDiagnosis of ovarian cancerCase-control studyOdds ratioBRCA mutationsMutation carriersLogistic regressionAdministered questionnairesIVF treatmentBRCA2BRCA1CancerInfertilityInfertility treatmentWomenRiskMedicationTreatmentBRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers
Meeks HD, Song H, Michailidou K, Bolla MK, Dennis J, Wang Q, Barrowdale D, Frost D, EMBRACE, McGuffog L, Ellis S, Feng B, Buys S, Hopper J, Southey M, Tesoriero A, Investigators K, James P, Bruinsma F, Campbell I, Group A, Broeks A, Schmidt M, Hogervorst F, HEBON, Beckman M, Fasching P, Fletcher O, Johnson N, Sawyer E, Riboli E, Banerjee S, Menon U, Tomlinson I, Burwinkel B, Hamann U, Marme F, Rudolph A, Janavicius R, Tihomirova L, Tung N, Garber J, Cramer D, Terry K, Poole E, Tworoger S, Dorfling C, van Rensburg E, Godwin A, Guénel P, Truong T, Collaborators G, Stoppa-Lyonnet D, Damiola F, Mazoyer S, Sinilnikova O, Isaacs C, Maugard C, Bojesen S, Flyger H, Gerdes A, Hansen T, Jensen A, Kjaer S, Hogdall C, Hogdall E, Pedersen I, Thomassen M, Benitez J, González-Neira A, Osorio A, de la Hoya M, Segura P, Diez O, Lazaro C, Brunet J, Anton-Culver H, Eunjung L, John E, Neuhausen S, Ding Y, Castillo D, Weitzel J, Ganz P, Nussbaum R, Chan S, Karlan B, Lester J, Wu A, Gayther S, Ramus S, Sieh W, Whittermore A, Monteiro A, Phelan C, Terry M, Piedmonte M, Offit K, Robson M, Levine D, Moysich K, Cannioto R, Olson S, Daly M, Nathanson K, Domchek S, Lu K, Liang D, Hildebrant M, Ness R, Modugno F, Pearce L, Goodman M, Thompson P, Brenner H, Butterbach K, Meindl A, Hahnen E, Wappenschmidt B, Brauch H, Brüning T, Blomqvist C, Khan S, Nevanlinna H, Pelttari L, Aittomäki K, Butzow R, Bogdanova N, Dörk T, Lindblom A, Margolin S, Rantala J, Kosma V, Mannermaa A, Lambrechts D, Neven P, Claes K, Van Maerken T, Chang-Claude J, Flesch-Janys D, Heitz F, Varon-Mateeva R, Peterlongo P, Radice P, Viel A, Barile M, Peissel B, Manoukian S, Montagna M, Oliani C, Peixoto A, Teixeira M, Collavoli A, Hallberg E, Olson J, Goode E, Hart S, Shimelis H, Cunningham J, Giles G, Milne R, Healey S, Tucker K, Haiman C, Henderson B, Goldberg M, Tischkowitz M, Simard J, Soucy P, Eccles D, Le N, Borresen-Dale A, Kristensen V, Salvesen H, Bjorge L, Bandera E, Risch H, Zheng W, Beeghly-Fadiel A, Cai H, Pylkäs K, Tollenaar R, van der Ouweland A, Andrulis I, Knight J, OCGN, Narod S, Devilee P, Winqvist R, Figueroa J, Greene M, L. P, Loud J, García-Closas M, Schoemaker M, Czene K, Darabi H, McNeish I, Siddiquil N, Glasspool R, Kwong A, Park S, Teo S, Yoon S, Matsuo K, Hosono S, Woo Y, Gao Y, Foretova L, Singer C, Rappaport-Feurhauser C, Friedman E, Laitman Y, Rennert G, Imyanitov E, Hulick P, Olopade O, Senter L, Olah E, Doherty J, Schildkraut J, Koppert L, Kiemeney L, Massuger L, Cook L, Pejovic T, Li J, Borg A, Öfverholm A, Rossing M, Wentzensen N, Henriksson K, Cox A, Cross S, Pasini B, Shah M, Kabisch M, Torres D, Jakubowska A, Lubinski J, Gronwald J, Agnarsson B, Kupryjanczyk J, Moes-Sosnowska J, Fostira F, Konstantopoulou I, Slager S, Jones M, in the genome P, Antoniou A, Berchuck A, Swerdlow A, Chenevix-Trench G, Dunning A, Pharoah P, Hall P, Easton D, Couch F, Spurdle A, Goldgar D. BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. Journal Of The National Cancer Institute 2015, 108: djv315. PMID: 26586665, PMCID: PMC4907358, DOI: 10.1093/jnci/djv315.Peer-Reviewed Original ResearchConceptsOvarian cancerBreast cancerVariant carriersCancer riskEstrogen receptor-negative breast cancerReceptor-negative breast cancerCancer case patientsInvasive ovarian cancerHormone-related cancersProstate cancer riskConfidence intervalsOvarian cancer riskSignificant inverse associationCox proportional hazardsSerous ovarian cancerRisk of breastBRCA1 mutation carriersPathogenic BRCA2 variantsControl patientsCase patientsInverse associationOdds ratioProstate cancerMutation carriersProportional hazards
2011
Rare variants in the ATMgene and risk of breast cancer
Goldgar D, Healey S, Dowty J, Da Silva L, Chen X, Spurdle A, Terry M, Daly M, Buys S, Southey M, Andrulis I, John E, BCFR, kConFab, Khanna K, Hopper J, Oefner P, Lakhani S, Chenevix-Trench G. Rare variants in the ATMgene and risk of breast cancer. Breast Cancer Research 2011, 13: r73. PMID: 21787400, PMCID: PMC3236337, DOI: 10.1186/bcr2919.Peer-Reviewed Original ResearchMeSH KeywordsAtaxia Telangiectasia Mutated ProteinsBreast NeoplasmsCase-Control StudiesCell Cycle ProteinsDNA-Binding ProteinsFemaleGenetic Predisposition to DiseaseGenetic VariationHumansLogistic ModelsLoss of HeterozygosityMiddle AgedMutation, MissenseProtein Serine-Threonine KinasesTumor Suppressor ProteinsWhite PeopleConceptsRisk of breast cancerRare sequence variantsLoss of heterozygositySequence variantsIncreased risk of breast cancerBreast cancerAssociated with increased breast cancerATM variantsCase-control family studyHazard ratioModified segregation analysisCases of breast cancerRisk of BCRare ATM variantsIncreased riskConditional logistic regressionATM geneAnalysis of loss of heterozygosityCellular response to DNA double-strand breaksResponse to DNA double-strand breaksFamily-based analysisCase-control analysisDNA damage-response pathwayATM c.Magnitude of risk
2006
BRCA1 and BRCA2 Mutation Carriers, Oral Contraceptive Use, and Breast Cancer Before Age 50
Haile R, Thomas D, McGuire V, Felberg A, John E, Milne R, Hopper J, Jenkins M, Levine A, Daly M, Buys S, Senie R, Andrulis I, Knight J, Godwin A, Southey M, McCredie M, Giles G, Andrews L, Tucker K, Miron A, Apicella C, Tesoriero A, Bane A, Pike M, Whittemore A, Investigators K. BRCA1 and BRCA2 Mutation Carriers, Oral Contraceptive Use, and Breast Cancer Before Age 50. Cancer Epidemiology Biomarkers & Prevention 2006, 15: 1863-1870. PMID: 17021353, DOI: 10.1158/1055-9965.epi-06-0258.Peer-Reviewed Original ResearchMeSH KeywordsAdultAustraliaBreast NeoplasmsCanadaCarcinoma in SituCarcinoma, Ductal, BreastCase-Control StudiesContraceptives, OralFemaleGenes, BRCA1Genes, BRCA2Genetic Predisposition to DiseaseHeterozygoteHumansLogistic ModelsMiddle AgedMutationReceptors, EstrogenReceptors, ProgesteroneRisk FactorsSurveys and QuestionnairesTime FactorsUnited StatesConceptsRisk of breast cancerBRCA2 mutation carriersOral contraceptive useMutation carriersAssociated with breast cancer riskIncreased risk of breast cancerBreast cancerOral contraceptivesContraceptive useBreast cancer riskUnconditional logistic regressionDuration of oral contraceptive useBRCA1 mutation carriersDuration of useCase-control analysisEffects of oral contraceptivesCancer riskFamily historyModify practicesElevated riskLogistic regressionIncreased riskBRCA2Family relationshipsBRCA1