2024
Ovarian Cancer Risk-Reduction and Screening in BRCA1/2 Mutation Carriers
DiSilvestro J, Haddad J, Robison K, Beffa L, Laprise J, Scalia-Wilbur J, Raker C, Clark M, Lokich E, Hofstatter E, Dalela D, Brown A, Bradford L, Toland M, Stuckey A. Ovarian Cancer Risk-Reduction and Screening in BRCA1/2 Mutation Carriers. Journal Of Women's Health 2024, 33: 624-628. PMID: 38488054, DOI: 10.1089/jwh.2023.0621.Peer-Reviewed Original ResearchRisk-reducing surgeryRisk-reducing strategiesMutation carriersGenetic testingIncreased screeningOvarian cancer risk reductionRisk of ovarian cancerRisk-reducing medicationsCancer risk reductionBRCA1/2 mutation carriersCross-sectional surveyOvarian cancerHigh-risk populationScreening utilizationEarly detection of ovarian cancerCombination of transvaginal ultrasoundCombined oral contraceptive pillDetection of ovarian cancerYears of ageSerum CA125 measurementOral contraceptive pillsFisher's exact testScreening protocolFemale participantsRisk reduction
2023
Prostate cancer risk, screening and management in patients with germline BRCA1/2 mutations
Rajwa P, Quhal F, Pradere B, Gandaglia G, Ploussard G, Leapman M, Gore J, Paradysz A, Tilki D, Merseburger A, Morgan T, Briganti A, Palapattu G, Shariat S. Prostate cancer risk, screening and management in patients with germline BRCA1/2 mutations. Nature Reviews Urology 2023, 20: 205-216. PMID: 36600087, DOI: 10.1038/s41585-022-00680-4.Peer-Reviewed Original ResearchConceptsProstate cancer riskBRCA1/2 mutation carriersMagnetic resonance imagingProstate cancerMutation carriersCancer riskProspective studyBRCA2 mutationsProstate cancer-specific mortalityProstate specific antigen measurementsCancer-specific mortalityProstate cancer incidenceAggressive clinical behaviorProstate cancer screeningRisk stratification strategiesLong-term resultsSignificant prostate cancerOptimal screening strategyGermline BRCA1/2 mutationsOptimal screening protocolProstate magnetic resonance imagingQuality of lifeBRCA2 tumor suppressor genesOverall survivalDisease characteristics
2022
Ovarian cancer risk-reduction and screening in BRCA 1/2 mutation carriers (383)
DiSilvestro J, Dexter J, Haddad J, Beffa L, Raker C, Laprise J, Wilbur J, Clark M, Bradford L, Brown A, Hofstatter E, Dalela D, Toland M, Robison K, Stuckey A. Ovarian cancer risk-reduction and screening in BRCA 1/2 mutation carriers (383). Gynecologic Oncology 2022, 166: s195-s196. DOI: 10.1016/s0090-8258(22)01605-5.Peer-Reviewed Original ResearchFemale BRCA mutation carriersOral contraceptive pillsOvarian cancer screeningBRCA mutation carriersOvarian cancerMutation carriersGenetic testingGynecologic oncologistsContraceptive pillsCancer screeningExact testBRCA 1/2 mutation carriersCombined oral contraceptive pillBRCA mutation typeRisk-reducing surgeryPrimary care providersHigh-risk populationHalf of womenBRCA1/2 mutation carriersPossible early detectionFisher's exact testCross-sectional surveyGenetic counselorsCA 125Surgical options
2020
Barriers to hormone replacement therapy following prophylactic bilateral salpingo-oophorectomy in BRCA1/2 mutation carriers
DiSilvestro J, Haddad J, Robison K, Beffa L, Laprise J, Wilbur J, Raker C, Hofstatter E, Dalela D, Brown A, Bradford L, Toland M, Stuckey A. Barriers to hormone replacement therapy following prophylactic bilateral salpingo-oophorectomy in BRCA1/2 mutation carriers. Gynecologic Oncology 2020, 159: 260. DOI: 10.1016/j.ygyno.2020.05.448.Peer-Reviewed Original ResearchTBCRC 048: A phase II study of olaparib monotherapy in metastatic breast cancer patients with germline or somatic mutations in DNA damage response (DDR) pathway genes (Olaparib Expanded).
Tung N, Robson M, Ventz S, Santa-Maria C, Marcom P, Nanda R, Shah P, Ballinger T, Yang E, Melisko M, Brufsky A, Vinayak S, Demeo M, Jenkins C, Domchek S, Wulf G, Krop I, Wolff A, Winer E, Garber J. TBCRC 048: A phase II study of olaparib monotherapy in metastatic breast cancer patients with germline or somatic mutations in DNA damage response (DDR) pathway genes (Olaparib Expanded). Journal Of Clinical Oncology 2020, 38: 1002-1002. DOI: 10.1200/jco.2020.38.15_suppl.1002.Peer-Reviewed Original Research
2019
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers
Qian F, Rookus MA, Leslie G, Risch HA, Greene MH, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arnold N, Arun BK, Ausems MGEM, Azzollini J, Barrowdale D, Barwell J, Benitez J, Białkowska K, Bonadona V, Borde J, Borg A, Bradbury AR, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Carter J, Chiquette J, Chung WK, Claes KBM, Collée JM, Collonge-Rame MA, Couch FJ, Daly MB, Delnatte C, Diez O, Domchek SM, Dorfling CM, Eason J, Easton DF, Eeles R, Engel C, Evans DG, Faivre L, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Garcia-Barberan V, Gehrig A, Glendon G, Godwin AK, Gómez Garcia EB, Hamann U, Hauke J, Hopper JL, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jakubowska A, Janavicius R, John EM, Karlan BY, Kets CM, Laitman Y, Lázaro C, Leroux D, Lester J, Lesueur F, Loud JT, Lubiński J, Łukomska A, McGuffog L, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Miller A, Montagna M, Mooij TM, Mouret-Fourme E, Nathanson KL, Nehoray B, Neuhausen SL, Nevanlinna H, Nielsen FC, Offit K, Olah E, Ong KR, Oosterwijk JC, Ottini L, Parsons MT, Peterlongo P, Pfeiler G, Pradhan N, Radice P, Ramus SJ, Rantala J, Rennert G, Robson M, Rodriguez GC, Salani R, Scheuner MT, Schmutzler RK, Shah PD, Side LE, Simard J, Singer CF, Steinemann D, Stoppa-Lyonnet D, Tan YY, Teixeira MR, Terry MB, Thomassen M, Tischkowitz M, Tognazzo S, Toland AE, Tung N, van Asperen CJ, van Engelen K, van Rensburg EJ, Venat-Bouvet L, Vierstraete J, Wagner G, Walker L, Weitzel JN, Yannoukakos D, Antoniou A, Goldgar D, Olopade O, Chenevix-Trench G, Rebbeck T, Huo D. Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers. British Journal Of Cancer 2019, 121: 180-192. PMID: 31213659, PMCID: PMC6738050, DOI: 10.1038/s41416-019-0492-8.Peer-Reviewed Original ResearchConceptsBody mass indexOvarian cancer riskBRCA1/2 mutation carriersBRCA2 mutation carriersCancer riskMutation carriersMass indexGeneral populationHigher ovarian cancer riskHigher Body Mass IndexGenetic scoreOvarian cancer casesMendelian randomisation studyMendelian randomisation approachConsortium of InvestigatorsPostmenopausal womenPremenopausal womenMenopausal statusCancer casesCox modelConclusionOur observationsRandomisation approachM2 increaseRiskPositive association
2018
Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study
Schrijver L, Olsson H, Phillips K, Terry M, Goldgar D, Kast K, Engel C, Mooij T, Adlard J, Barrowdale D, Davidson R, Eeles R, Ellis S, Evans D, Frost D, Izatt L, Porteous M, Side L, Walker L, Berthet P, Bonadona V, Leroux D, Mouret-Fourme E, Venat-Bouvet L, Buys S, Southey M, John E, Chung W, Daly M, Bane A, van Asperen C, Garcia E, Mourits M, van Os T, Roos-Blom M, Friedlander M, McLachlan S, Singer C, Tan Y, Foretova L, Navratilova M, Gerdes A, Caldes T, Simard J, Olah E, Jakubowska A, Arver B, Osorio A, Noguès C, Andrieu N, Easton D, van Leeuwen F, Hopper J, Milne R, Antoniou A, Rookus M. Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study. JNCI Cancer Spectrum 2018, 2: pky023. PMID: 31360853, PMCID: PMC6649757, DOI: 10.1093/jncics/pky023.Peer-Reviewed Original ResearchBRCA2 mutation carriersAssociated with BC riskOral contraceptive preparationsBC riskBRCA1 mutation carriersMutation carriersYoung middle-aged womenProspective analysisEvidence of increased riskIncreased BC riskBRCA1/2 mutation carriersBreast cancerRetrospective analysisMiddle-aged womenNonhormonal contraceptive methodsBirth cohortRisk associationCohort studyProspective cohortSurvival biasContraceptive preparationsOCP useBRCA2Cox regressionContraceptive methodsOncologic Safety of Prophylactic Nipple-Sparing Mastectomy in a Population With BRCA Mutations: A Multi-institutional Study
Jakub J, Peled A, Gray R, Greenup R, Kiluk J, Sacchini V, McLaughlin S, Tchou J, Vierkant R, Degnim A, Willey S. Oncologic Safety of Prophylactic Nipple-Sparing Mastectomy in a Population With BRCA Mutations: A Multi-institutional Study. JAMA Surgery 2018, 153: 123-129. PMID: 28903167, PMCID: PMC5838709, DOI: 10.1001/jamasurg.2017.3422.Peer-Reviewed Original ResearchConceptsProphylactic nipple-sparing mastectomyNipple-sparing mastectomyRisk-reducing mastectomyPrimary breast cancerBRCA mutationsBreast cancerOncologic safetyContralateral risk-reducing mastectomyNew primary breast cancerOccult primary breast cancerCancer risk-reducing strategiesIpsilateral breast cancerNew breast cancersBreast cancer eventsCohort of patientsNipple-sparing mastectomiesPrimary outcome measureBRCA1/2 mutation carriersFree nipple graftSuperior cosmetic outcomesEvidence-based dataHealth care professionalsMulti-institutional studyNipple-areolar complexProphylactic side
2017
Cost Effectiveness of Risk-Reducing Mastectomy versus Surveillance in BRCA Mutation Carriers with a History of Ovarian Cancer
Gamble C, Havrilesky L, Myers E, Chino J, Hollenbeck S, Plichta J, Kelly Marcom P, Shelley Hwang E, Kauff N, Greenup R. Cost Effectiveness of Risk-Reducing Mastectomy versus Surveillance in BRCA Mutation Carriers with a History of Ovarian Cancer. Annals Of Surgical Oncology 2017, 24: 3116-3123. PMID: 28699130, PMCID: PMC5990891, DOI: 10.1245/s10434-017-5995-z.Peer-Reviewed Original ResearchConceptsRisk-reducing mastectomyOvarian cancer diagnosisIncremental cost-effectiveness ratioBRCA mutation carriersMonths of lifeMutation carriersMagnetic resonance imagingCancer diagnosisSurvival benefitOvarian cancerMutation statusMost BRCA1/2 mutation carriersThird-party payer perspectiveGreater survival benefitBreast cancer riskBRCA mutation statusBRCA1/2 mutation carriersBRCA2 mutation carriersBRCA2 mutation statusBRCA1 mutation carriersBreast cancer screeningMonte Carlo probabilistic sensitivity analysisCost-effectiveness ratioYears of lifeProbabilistic sensitivity analyses
2015
TBCRC009: A Multicenter Phase II Clinical Trial of Platinum Monotherapy With Biomarker Assessment in Metastatic Triple-Negative Breast Cancer
Isakoff SJ, Mayer EL, He L, Traina TA, Carey LA, Krag KJ, Rugo HS, Liu MC, Stearns V, Come SE, Timms KM, Hartman AR, Borger DR, Finkelstein DM, Garber JE, Ryan PD, Winer EP, Goss PE, Ellisen LW. TBCRC009: A Multicenter Phase II Clinical Trial of Platinum Monotherapy With Biomarker Assessment in Metastatic Triple-Negative Breast Cancer. Journal Of Clinical Oncology 2015, 33: 1902-1909. PMID: 25847936, PMCID: PMC4451173, DOI: 10.1200/jco.2014.57.6660.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAntineoplastic AgentsBiomarkers, TumorBRCA1 ProteinBRCA2 ProteinCarboplatinCisplatinClass I Phosphatidylinositol 3-KinasesDrug Administration ScheduleFemaleGene Expression ProfilingGene Expression Regulation, NeoplasticGenomic InstabilityHeterozygoteHumansLoss of HeterozygosityMiddle AgedMutationNeoplasm StagingPhosphatidylinositol 3-KinasesTreatment OutcomeTriple Negative Breast NeoplasmsConceptsMetastatic triple-negative breast cancerGermline BRCA1/2 mutationsPhase II clinical trialTriple-negative breast cancerBRCA1/2 mutationsResponse rateClinical trialsBreast cancerMulticenter phase II clinical trialEnd pointSingle-arm phase II clinical trialCoprimary end pointsExploratory end pointsObjective response ratePIK3CA mutation statusSingle-agent platinumLong-term respondersPlatinum-based chemotherapyIdentification of patientsBRCA1/2 mutation carriersGenomic instability signatureGene expression subtypesP73 gene expressionPlatinum monotherapyMutation carriers
2013
Oral Contraceptives and Risk of Ovarian Cancer and Breast Cancer Among High-Risk Women: A Systematic Review and Meta-Analysis
Moorman PG, Havrilesky LJ, Gierisch JM, Coeytaux RR, Lowery WJ, Urrutia R, Dinan M, McBroom AJ, Hasselblad V, Sanders GD, Myers ER. Oral Contraceptives and Risk of Ovarian Cancer and Breast Cancer Among High-Risk Women: A Systematic Review and Meta-Analysis. Journal Of Clinical Oncology 2013, 31: 4188-4198. PMID: 24145348, DOI: 10.1200/jco.2013.48.9021.Peer-Reviewed Original ResearchConceptsBRCA1/2 mutation carriersBRCA2 mutation carriersOvarian cancerBreast cancerMutation carriersFamily historyOC useCancer riskSystematic reviewOral contraceptive useHigh-risk womenUse of OCsBreast cancer riskOvarian cancer riskStrong family historyTiming of useOral contraceptivesCochrane DatabaseInverse associationBRCA1/2 mutationsContraceptive useElevated riskGeneral populationUnique citationsMeta-analysis
2012
Breast and Ovarian Cancer Risk and Risk Reduction in Jewish BRCA1/2 Mutation Carriers
Finkelman B, Rubinstein W, Friedman S, Friebel T, Dubitsky S, Schonberger N, Shoretz R, Singer C, Blum J, Tung N, Olopade O, Weitzel J, Lynch H, Snyder C, Garber J, Schildkraut J, Daly M, Isaacs C, Pichert G, Neuhausen S, Couch F, Veer L, Eeles R, Bancroft E, Evans D, Ganz P, Tomlinson G, Narod S, Matloff E, Domchek S, Rebbeck T. Breast and Ovarian Cancer Risk and Risk Reduction in Jewish BRCA1/2 Mutation Carriers. Journal Of Clinical Oncology 2012, 30: 1321-1328. PMID: 22430266, PMCID: PMC3341145, DOI: 10.1200/jco.2011.37.8133.Peer-Reviewed Original ResearchMeSH KeywordsAdultAge DistributionAgedBreast NeoplasmsCohort StudiesConfidence IntervalsFemaleGenes, BRCA1Genes, BRCA2Genetic Predisposition to DiseaseGenetic TestingGerm-Line MutationHeterozygoteHumansIncidenceJewsMiddle AgedOdds RatioOvarian NeoplasmsPrevalencePrognosisProportional Hazards ModelsRisk AssessmentRisk Reduction BehaviorConceptsRisk-Reducing Salpingo-OophorectomyRisk of breast cancerOvarian cancer riskCancer riskRelative risk of breast cancerRisk reductionPopulation-based cohort studyBRCA1/2-positive womenMutation carriersCancer risk reductionBRCA1/2 mutation carriersRisk of cancerBreast cancerJewish womenCox proportional hazards modelsOvarian cancerNon-Jewish womenEstimate breastBRCA1/2 carriersProportional hazards modelBRCA2 carriersClinical careRelative riskBRCA1/2 mutationsCohort study
2011
Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers
Spurdle A, Marquart L, McGuffog L, Healey S, Sinilnikova O, Wan F, Chen X, Beesley J, Singer C, Dressler A, Gschwantler-Kaulich D, Blum J, Tung N, Weitzel J, Lynch H, Garber J, Easton D, Peock S, Cook M, Oliver C, Frost D, Conroy D, Evans D, Lalloo F, Eeles R, Izatt L, Davidson R, Chu C, Eccles D, Selkirk C, Daly M, Isaacs C, Stoppa-Lyonnet D, Sinilnikova O, Buecher B, Belotti M, Mazoyer S, Barjhoux L, Verny-Pierre C, Lasset C, Dreyfus H, Pujol P, Collonge-Rame M, Rookus M, Verhoef S, Kriege M, Hoogerbrugge N, Ausems M, van Os T, Wijnen J, Devilee P, Meijers-Heijboer H, Blok M, Heikkinen T, Nevanlinna H, Jakubowska A, Lubiński J, Huzarski T, Byrski T, Durocher F, Couch F, Lindor N, Wang X, Thomassen M, Domchek S, Nathanson K, Caligo M, Jernström H, Liljegren A, Ehrencrona H, Karlsson P, Ganz P, Olopade O, Tomlinson G, Neuhausen S, Antoniou A, Chenevix-Trench G, Rebbeck T. Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers. Cancer Epidemiology Biomarkers & Prevention 2011, 20: 1032-1038. PMID: 21393566, PMCID: PMC3089675, DOI: 10.1158/1055-9965.epi-10-0909.Peer-Reviewed Original ResearchConceptsBreast cancer riskAssociated with breast cancer riskBRCA2 mutation carriersBRCA1/2 mutation carriersCancer riskMutation carriersAssociated with risk of breast cancerElevated breast cancer riskBreast cancer risk assessmentRisk of breast cancerBARD1 Cys557Ser variantCancer prevention strategiesPooled effect estimatesCancer risk assessmentAssociated with riskModifiers of riskBRCA2 carriersBRCA1 carriersInherited BRCA1Risk modificationAnalysis of haplotypesPrevention strategiesEffect estimatesKnowledge of factorsBRCA1/2
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
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