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 receptorCorrection to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers
Mavaddat N, Antoniou A, Mooij T, Hooning M, Heemskerk-Gerritsen B, Noguès C, Gauthier-Villars M, Caron O, Gesta P, Pujol P, Lortholary A, Barrowdale D, Frost D, Evans D, Izatt L, Adlard J, Eeles R, Brewer C, Tischkowitz M, Henderson A, Cook J, Eccles D, van Engelen K, Mourits M, Ausems M, Koppert L, Hopper J, John E, Chung W, Andrulis I, Daly M, Buys S, Benitez J, Caldes T, Jakubowska A, Simard J, Singer C, Tan Y, Olah E, Navratilova M, Foretova L, Gerdes A, Roos-Blom M, Van Leeuwen F, Arver B, Olsson H, Schmutzler R, Engel C, Kast K, Phillips K, Terry M, Milne R, Goldgar D, Rookus M, Andrieu N, Easton D. Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers. Breast Cancer Research 2020, 22: 25. PMID: 32102695, PMCID: PMC7045606, DOI: 10.1186/s13058-020-01259-w.Peer-Reviewed Original Research
2018
The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations
Terry M, Liao Y, Kast K, Antoniou A, McDonald J, Mooij T, Engel C, Nogues C, Buecher B, Mari V, Moretta-Serra J, Gladieff L, Luporsi E, Barrowdale D, Frost D, Henderson A, Brewer C, Evans D, Eccles D, Cook J, Ong K, Izatt L, Ahmed M, Morrison P, Dommering C, Oosterwijk J, Ausems M, Kriege M, Buys S, Andrulis I, John E, Daly M, Friedlander M, McLachlan S, Osorio A, Caldes T, Jakubowska A, Simard J, Singer C, Tan Y, Olah E, Navratilova M, Foretova L, Gerdes A, Roos-Blom M, Arver B, Olsson H, Schmutzler R, Hopper J, van Leeuwen F, Goldgar D, Milne R, Easton D, Rookus M, Andrieu N, . The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations. JNCI Cancer Spectrum 2018, 2: pky078. PMID: 30873510, PMCID: PMC6405439, DOI: 10.1093/jncics/pky078.Peer-Reviewed Original ResearchFull-term pregnancyAssociated with decreased BC riskAssociated with BC riskBC riskIncreased BC riskMutation carriersTime of pregnancyRetrospective cohortBreast cancerBreast cancer riskTime-varying Cox proportional hazards modelsIncreasing duration of breastfeedingReduce breast cancerCox proportional hazards modelsDuration of breastfeedingProportional hazards modelBRCA2 mutationsProspective studyProspective cohortCancer riskProspective analysisHigh riskPregnancyHazards modelCohortOral 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, Gómez 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 methods