2021
Phase II trial of veliparib and temozolomide in metastatic breast cancer patients with and without BRCA1/2 mutations
Xu J, Keenan TE, Overmoyer B, Tung NM, Gelman RS, Habin K, Garber JE, Ellisen LW, Winer EP, Goss PE, Yeap BY, Chabner BA, Isakoff SJ. Phase II trial of veliparib and temozolomide in metastatic breast cancer patients with and without BRCA1/2 mutations. Breast Cancer Research And Treatment 2021, 189: 641-651. PMID: 34417675, DOI: 10.1007/s10549-021-06292-7.Peer-Reviewed Original ResearchConceptsObjective response rateClinical benefit rateProgression-free survivalMedian progression-free survivalMetastatic breast cancer patientsPhase II trialMetastatic breast cancerBreast cancer patientsBRCA1/2 carriersBreast cancerExpansion cohortII trialPrimary endpointPrimary cohortCancer patientsBenefit rateBRCA1/2 mutationsDay 1Longer median progression-free survivalSingle-arm phase II trialCommon grade 3Doses of veliparibPlatinum-naïve patientsPrior platinum therapyBRCA mutation carriers
2020
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
Barnes DR, Rookus MA, McGuffog L, Leslie G, Mooij TM, Dennis J, Mavaddat N, Adlard J, Ahmed M, Aittomäki K, Andrieu N, Andrulis IL, Arnold N, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Benitez J, Berthet P, Białkowska K, Blanco AM, Blok MJ, Bonanni B, Boonen SE, Borg Å, Bozsik A, Bradbury AR, Brennan P, Brewer C, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Christensen LL, Chung WK, Claes KBM, Colas C, Berthet P, Colas C, Collonge-Rame M, Delnatte C, Faivre L, Giraud S, Lasset C, Mari V, Mebirouk N, Mouret-Fourme E, Schuster H, Stoppa-Lyonnet D, Adlard J, Ahmed M, Antoniou A, Barrowdale D, Brennan P, Brewer C, Cook J, Davidson R, Easton D, Eeles R, Evans D, Frost D, Hanson H, Izatt L, Ong K, Side L, O’Shaughnessy-Kirwan A, Tischkowitz M, Walker L, Collonge-Rame M, Cook J, Daly M, Davidson R, de la Hoya M, de Putter R, Delnatte C, Devilee P, Diez O, Ding Y, Domchek S, Dorfling C, Dumont M, Eeles R, Ejlertsen B, Engel C, Evans D, Faivre L, Foretova L, Fostira F, Friedlander M, Friedman E, Frost D, Ganz P, Garber J, Gehrig A, Gerdes A, Gesta P, Giraud S, Glendon G, Godwin A, Goldgar D, González-Neira A, Greene M, Gschwantler-Kaulich D, Hahnen E, Hamann U, Hanson H, Hentschel J, Hogervorst F, Hooning M, Horvath J, Hu C, Hulick P, Imyanitov E, Chenevix-Trench G, Phillips K, Spurdle A, Blok M, Devilee P, Hogervorst F, Hooning M, Koudijs M, Mensenkamp A, Meijers-Heijboer H, Rookus M, van Engelen K, Andrieu N, Noguès C, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, John E, Joseph V, Karlan B, Kast K, Koudijs M, Kruse T, Kwong A, Laitman Y, Lasset C, Lazaro C, Lester J, Lesueur F, Liljegren A, Loud J, Lubiński J, L. P, Manoukian S, Mari V, Mebirouk N, Meijers-Heijboer H, Meindl A, Mensenkamp A, Miller A, Montagna M, Mouret-Fourme E, Mukherjee S, Mulligan A, Nathanson K, Neuhausen S, Nevanlinna H, Niederacher D, Nielsen F, Nikitina-Zake L, Noguès C, Olah E, Olopade O, Ong K, O’Shaughnessy-Kirwan A, Osorio A, Ott C, Papi L, Park S, Parsons M, Pedersen I, Peissel B, Peixoto A, Peterlongo P, Pfeiler G, Phillips K, Prajzendanc K, Pujana M, Radice P, Ramser J, Ramus S, Rantala J, Rennert G, Risch H, Robson M, Rønlund K, Salani R, Schuster H, Senter L, Shah P, Sharma P, Side L, Singer C, Slavin T, Soucy P, Southey M, Spurdle A, Steinemann D, Steinsnyder Z, Stoppa-Lyonnet D, Sutter C, Tan Y, Teixeira M, Teo S, Thull D, Tischkowitz M, Tognazzo S, Toland A, Trainer A, Tung N, van Engelen K, van Rensburg E, Vega A, Vierstraete J, Wagner G, Walker L, Wang-Gohrke S, Wappenschmidt B, Weitzel J, Yadav S, Yang X, Yannoukakos D, Zimbalatti D, Offit K, Thomassen M, Couch F, Schmutzler R, Simard J, Easton D, Chenevix-Trench G, Antoniou A. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. Genetics In Medicine 2020, 22: 1653-1666. PMID: 32665703, PMCID: PMC7521995, DOI: 10.1038/s41436-020-0862-x.Peer-Reviewed Original ResearchConceptsEpithelial ovarian cancerPathogenic variant carriersProspective cohortPolygenic risk scoresVariant carriersCancer riskRisk scoreStrong associationEOC riskHigh-grade serous epithelial ovarian cancerSerous epithelial ovarian cancerER-positive BCBRCA2 pathogenic variantsCarriers of BRCA1Absolute risk differenceEpithelial ovarian cancer riskGeneral population estimatesOvarian cancer riskHR estimatesBRCA2 pathogenic variant carriersBRCA1 carriersBRCA1/2 carriersOvarian cancerBC riskEstrogen receptor
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
2010
7N Local therapy options in BRCA1/2 carriers with operable breast cancer: the importance of adjuvant chemotherapy
Pierce L, Phillips K, Griffith K, Buys S, Gaffney D, Moran M, Haffty B, Ben-David M, Garber J, Merajver S, Balmaña J, Meirovitz A, Domchek S. 7N Local therapy options in BRCA1/2 carriers with operable breast cancer: the importance of adjuvant chemotherapy. European Journal Of Cancer Supplements 2010, 8: 55. DOI: 10.1016/s1359-6349(10)70034-3.Peer-Reviewed Original Research
2009
Local Therapy in BRCA1/2 Carriers with Operable Breast Cancer: Comparison of Breast Conservation and Mastectomy.
Pierce L, Phillips K, Griffith K, Buys S, Gaffney D, Moran M, Haffty B, Ben-David M, Garber J, Merajver S, Balmanya J, Meirovitz A, Domchek S. Local Therapy in BRCA1/2 Carriers with Operable Breast Cancer: Comparison of Breast Conservation and Mastectomy. Cancer Research 2009, 69: 959-959. DOI: 10.1158/0008-5472.sabcs-09-959.Peer-Reviewed Original ResearchContralateral breast cancerOperable breast cancerBreast conservationBreast cancerLocal therapyBRCA1/2 mutationsDistant failureClinical characteristicsBRCA1/2 carriersLocal failureBC-specific survivalDeleterious BRCA1/2 mutationsLocal treatment optionsInvasive lobular cancerGermline BRCA1/2 mutationsSignificant predictorsSignificant differencesOnly significant predictorAdjuvant chemotherapyBCT patientsOverall survivalContralateral breastLobular cancerLocal recurrenceRandomized trials
2003
Reproductive factors and ovarian cancer risk in Jewish BRCA1 and BRCA2 mutation carriers (United States)
Modugno F, Moslehi R, Ness RB, Nelson DB, Belle S, Kant JA, Wheeler JE, Wonderlick A, Fishman D, Karlan B, Risch H, Cramer DW, Dube MP, Narod SA. Reproductive factors and ovarian cancer risk in Jewish BRCA1 and BRCA2 mutation carriers (United States). Cancer Causes & Control 2003, 14: 439-446. PMID: 12946038, DOI: 10.1023/a:1024932427503.Peer-Reviewed Original ResearchConceptsBRCA1 carriersOC useTubal ligationOvarian cancerReproductive factorsInvasive epithelial ovarian cancerFounder mutationOral contraceptive useHistory of breastfeedingEpithelial ovarian cancerOvarian cancer casesOvarian cancer riskBRCA1 founder mutationsBRCA2 mutation carriersAshkenazi founder mutationsCase-only studyNulliparous womenGynecologic surgeryBRCA1/2 carriersRisk factorsBRCA2 mutationsCancer casesLive birthsBRCA1/2 mutationsContraceptive use
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