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, 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, 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, Mai 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
Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer
Bolton K, Trench G, Goh C, Sadetzki S, Ramus S, Karlan B, Lambrechts D, Despierre E, Barrowdale D, McGuffog L, Healey S, Easton D, Sinilnikova O, Benítez J, García M, Neuhausen S, Gail M, Hartge P, Peock S, Frost D, Evans D, Eeles R, Godwin A, Daly M, Kwong A, K. E, Lázaro C, Blanco I, Montagna M, D'Andrea E, Nicoletto M, Johnatty S, Kjær S, Jensen A, Høgdall E, Goode E, Fridley B, Loud J, Greene M, L. P, Chetrit A, Lubin F, Hirsh-Yechezkel G, Glendon G, Andrulis I, Toland A, Senter L, Gore M, Gourley C, Michie C, Song H, Tyrer J, Whittemore A, McGuire V, Sieh W, Kristoffersson U, Olsson H, Borg Å, Levine D, Steele L, Beattie M, Chan S, Nussbaum R, Moysich K, Gross J, Cass I, Walsh C, Li A, Leuchter R, Gordon O, Garcia-Closas M, Gayther S, Chanock S, Antoniou A, Pharoah P, Investigators A. Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer. JAMA 2012, 307: 382-389. PMID: 22274685, PMCID: PMC3727895, DOI: 10.1001/jama.2012.20.Peer-Reviewed Original ResearchConceptsEpithelial ovarian cancerInvasive epithelial ovarian cancerBRCA2 carriersOvarian cancerGermline mutationsOverall survivalInvasive EOCEpithelial ovarian cancer casesEffect of BRCA1BRCA2 mutation carriersSurvival of womenYear of diagnosisPathogenic germline mutationsBRCA1 carriersBRCA2 mutationsBRCA carriersFavorable survivalImprove prognosisSurvival differencesMutation carriersBRCA2Pooled analysisBRCA1Observational studyCancer
1993
Ovarian cancer risk counseling: a guide for the practitioner.
Daly M, Lerman C. Ovarian cancer risk counseling: a guide for the practitioner. Oncology 1993, 7: 27-34; discussion 34, 37-8, 41. PMID: 8280574.Peer-Reviewed Original ResearchConceptsLong-term disease-free survivalStage III or IV diseaseDisease-free survivalEpithelial ovarian cancerEarly stage diseaseNon-specific symptomsIV diseaseImmunologic compromiseOvarian cancerStage diseaseGynecologic cancerChemotherapeutic approachesDiagnosed casesNatural historyPainful deathDiseaseCancerDeathUnited StatesPainPatientsMalnutritionYearsSurvivalSymptoms