2024
Menopausal hormone therapy: assessing associations with breast and colorectal cancers by familial risk
Macinnis R, Jenkins M, Milne R, John E, Daly M, Andrulis I, Colonna S, Phillips K, Investigators K, Le Marchand L, Newcomb P, Phipps A, Schmit S, Macrae F, Buchanan D, Gallinger S, Pai R, Samadder N, Giles G, Southey M, Hopper J, Terry M. Menopausal hormone therapy: assessing associations with breast and colorectal cancers by familial risk. JNCI Cancer Spectrum 2024, pkae121. PMID: 39673461, DOI: 10.1093/jncics/pkae121.Peer-Reviewed Original ResearchFamily risk scoreMenopausal hormone therapyFamilial riskHazard ratioColorectal cancerFamilial risk of BCBreast cancerFamily historyDecreased colorectal cancerCancer family historyRisk of BCIncreased breast cancerAssociated with breastIncident BCNever usersGeneral populationRisk scoreHarmonized dataWomenHormone therapyRiskAssociationCancerNeverCohortPhysical activity during adolescence and early adulthood and breast cancer risk before age 40 years
Kehm R, Genkinger J, Knight J, Maclnnis R, Liao Y, Li S, Weideman P, Chung W, Kurian A, Colonna S, Andrulis I, Buys S, Daly M, John E, Hopper J, Terry M. Physical activity during adolescence and early adulthood and breast cancer risk before age 40 years. Cancer Epidemiology Biomarkers & Prevention 2024, of1-of9. PMID: 39404779, DOI: 10.1158/1055-9965.epi-24-0743.Peer-Reviewed Original ResearchRecreational physical activityPhysical activityStrenuous recreational physical activityAssociated with BC riskBreast cancerBreast cancer riskBC risk factorsEarly adulthoodCox proportional hazards regression modelsProportional hazards regression modelsHazards regression modelsBC riskCancer riskLowest quartileFamily cohortStudy enrollmentRisk factorsRegression modelsYoung womenStudy centersWomenAdolescentsAgeCohortAdulthoodHormonal Contraception and Breast Cancer Risk for Carriers of Germline Mutations in BRCA1 and BRCA2.
Phillips K, Kotsopoulos J, Domchek S, Terry M, Chamberlain J, Bassett J, Aeilts A, Andrulis I, Buys S, Cui W, Daly M, Eisen A, Foulkes W, Friedlander M, Gronwald J, Hopper J, John E, Karlan B, Kim R, Kurian A, Lubinski J, Metcalfe K, Nathanson K, Singer C, Southey M, Symecko H, Tung N, Narod S, Milne R, Amor D, Andrews L, Antill Y, Balleine R, Beesley J, Bennett I, Bogwitz M, Bodek S, Botes L, Brennan M, Brown M, Buckley M, Burke J, Butow P, Caldon L, Campbell I, Cao M, Chakrabarti A, Chauhan D, Chauhan M, Chenevix-Trench G, Christian A, Cohen P, Colley A, Crook A, Cui J, Courtney E, Cummings M, Dawson S, DeFazio A, Delatycki M, Dickson R, Dixon J, Edwards S, Farshid G, Fellows A, Fenton G, Field M, Flanagan J, Fong P, Forrest L, Fox S, French J, Friedlander M, Gaff C, Gattas M, George P, Greening S, Harris M, Hart S, Harraka P, Hayward N, Hopper J, Hoskins C, Hunt C, James P, Jenkins M, Kidd A, Kirk J, Koehler J, Kollias J, Lakhani S, Lawrence M, Lee J, Li S, Lindeman G, Lippey J, Lipton L, Lobb L, Loi S, Mann G, Marsh D, McLachlan S, Meiser B, Milne R, Nightingale S, O'Connell S, O'Sullivan S, Ortega D, Pachter N, Pang J, Pathak G, Patterson B, Pearn A, Phillips K, Pieper E, Ramus S, Rickard E, Ragunathan A, Robinson B, Saleh M, Skandarajah A, Salisbury E, Saunders C, Saunus J, Savas P, Scott R, Scott C, Sexton A, Shaw J, Shelling A, Srinivasa S, Simpson P, Southey M, Spurdle A, Taylor J, Taylor R, Thorne H, Trainer A, Tucker K, Visvader J, Walker L, Williams R, Winship I, Young M, Zaheed M. Hormonal Contraception and Breast Cancer Risk for Carriers of Germline Mutations in BRCA1 and BRCA2. Journal Of Clinical Oncology 2024, jco2400176. PMID: 39356978, DOI: 10.1200/jco.24.00176.Peer-Reviewed Original ResearchAssociated with increased BC riskBC riskHormonal contraceptionMutation carriersBreast cancerAssociated with BC riskCarriers of germline mutationsBreast cancer riskMedian follow-upAssociated with increased riskIncreased breast cancerHormonal contraceptive useProspective cohort studyGermline mutationsFollow-upCohort studyCox regressionCancer riskContraceptive useContraceptionCumulative durationMutationsRiskProportional increaseYearsPregnancy-Related Factors and Breast Cancer Risk for Women Across a Range of Familial Risk
McDonald J, Liao Y, Knight J, John E, Kurian A, Daly M, Buys S, Huang Y, Frost C, Andrulis I, Colonna S, Friedlander M, Hopper J, Chung W, Genkinger J, MacInnis R, Terry M, Amor D, Andrews L, Antill Y, Balleine R, Beesley J, Bennett I, Bogwitz M, Bodek S, Botes L, Brennan M, Brown M, Buckley M, Burke J, Butow P, Caldon L, Campbell I, Cao M, Chakrabarti A, Chauhan D, Chauhan M, Chenevix-Trench G, Christian A, Cohen P, Colley A, Crook A, Cui J, Courtney E, Cummings M, Dawson S, deFazio A, Delatycki M, Dickson R, Dixon J, Edwards S, Farshid G, Fellows A, Fenton G, Field M, Flanagan J, Fong P, Forrest L, Fox S, French J, Friedlander M, Gaff C, Gattas M, George P, Greening S, Harris M, Hart S, Harraka P, Hayward N, Hopper J, Hoskins C, Hunt C, James P, Jenkins M, Kidd A, Kirk J, Koehler J, Kollias J, Lakhani S, Lawrence M, Lee J, Li S, Lindeman G, Lippey J, Lipton L, Lobb L, Loi S, Mann G, Marsh D, McLachlan S, Meiser B, Milne R, Nightingale S, O'Connell S, O'Sullivan S, Gallego Ortega D, Pachter N, Pang J, Pathak G, Patterson B, Pearn A, Phillips K, Pieper E, Ramus S, Rickard E, Ragunathan A, Robinson B, Saleh M, Skandarajah A, Salisbury E, Saunders C, Saunus J, Savas P, Scott R, Scott C, Sexton A, Shaw J, Shelling A, Srinivasa S, Simpson P, Southey M, Spurdle A, Taylor J, Taylor R, Thorne H, Trainer A, Tucker K, Visvader J, Walker L, Williams R, Winship I, Young M, Zaheed M. Pregnancy-Related Factors and Breast Cancer Risk for Women Across a Range of Familial Risk. JAMA Network Open 2024, 7: e2427441. PMID: 39186276, DOI: 10.1001/jamanetworkopen.2024.27441.Peer-Reviewed Original ResearchConceptsPregnancy-related factorsFull-term pregnancyBC riskNulliparous womenProspective Family Study CohortBreast Cancer Family RegistryBreast cancerBC diagnosisER-negative BCCohort studyHazard ratioCancer Family RegistryBreast cancer riskPersonal history of BCBC family historyCohort study of womenHistory of BCCohort of womenCox proportional hazards regression modelsProportional hazards regression modelsStudy of womenER-negative diseaseFamily RegistryHazards regression modelsScreening guidelinesWhat Proportion of BRCA–Associated Breast Cancer Is Human Epidermal Growth Factor 2–Low and Eligible for Additional Targeted Therapy?
Forester E, Belsare A, Kim D, Whitaker K, Obeid E, Goldstein L, Bleicher R, Daly M, Williams A. What Proportion of BRCA–Associated Breast Cancer Is Human Epidermal Growth Factor 2–Low and Eligible for Additional Targeted Therapy? Journal Of Surgical Research 2024, 299: 217-223. PMID: 38776577, DOI: 10.1016/j.jss.2024.04.032.Peer-Reviewed Original ResearchTriple negative breast cancerHuman epidermal growth factor 2HER2-lowBreast cancerTargeted therapyMetachronous contralateral breast cancerPathogenic variantsHuman epidermal growth factor 2 statusBRCA-associated breast cancerRetrospective chart review of patientsChart review of patientsContralateral breast cancerBRCA gene statusInvasive breast cancerTargeted therapy optionsReview of patientsHR+/HER2- breast cancerRetrospective chart reviewNegative breast cancerFluorescence in situ hybridizationHER2 dataMetastatic settingTrastuzumab deruxtecanHER2-positiveGrowth factor 2
2023
NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.
Daly M, Pal T, Maxwell K, Churpek J, Kohlmann W, AlHilli Z, Arun B, Buys S, Cheng H, Domchek S, Friedman S, Giri V, Goggins M, Hagemann A, Hendrix A, Hutton M, Karlan B, Kassem N, Khan S, Khoury K, Kurian A, Laronga C, Mak J, Mansour J, McDonnell K, Menendez C, Merajver S, Norquist B, Offit K, Rash D, Reiser G, Senter-Jamieson L, Shannon K, Visvanathan K, Welborn J, Wick M, Wood M, Yurgelun M, Dwyer M, Darlow S. NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024. Journal Of The National Comprehensive Cancer Network 2023, 21: 1000-1010. PMID: 37856201, DOI: 10.6004/jnccn.2023.0051.Peer-Reviewed Original ResearchConceptsGenetic/Familial High-Risk AssessmentNCCN guidelinesHigh-risk assessmentProstate cancerLP variantsGenetic counseling/testingNCCN Guidelines InsightsRisk of breastLi-Fraumeni syndromeUterine cancerOvarian cancerBreast cancerHereditary predispositionCare strategiesRisk reduction strategiesPathogenic variantsCancerBreastOvarianGender diverse peopleImportant updatesGuidelinesAssessmentSyndromePancreaticAdolescent Physical Activity and Breast Cancer Risk in Young Women: Findings From the ProF-SC Study
Kehm R, Genkinger J, MacInnis R, John E, Knight J, Kurian A, Colonna S, Chung W, Phillips K, Andrulis I, Buys S, Daly M, Hopper J, Terry M. Adolescent Physical Activity and Breast Cancer Risk in Young Women: Findings From the ProF-SC Study. Cancer Epidemiology Biomarkers & Prevention 2023, 32: 858-858. DOI: 10.1158/1055-9965.epi-23-0358.Peer-Reviewed Original ResearchRecreational physical activityAdolescent physical activityBreast cancer riskPhysical activityBC diagnosisBC riskCancer riskAssociation of recreational physical activityStrenuous recreational physical activityReduce breast cancer riskIncidence of breast cancerNo history of BCStatistically significant multiplicative interactionReduced risk of BCBreast cancerReduce BC riskHistory of BCRisk of BCYoung womenReduced riskSignificant multiplicative interactionCox proportional hazards regression modelsFollow-upProportional hazards regression modelsMultivariate Cox proportional hazards regression models
2021
Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.
Daly M, Pal T, Berry M, Buys S, Dickson P, Domchek S, Elkhanany A, Friedman S, Goggins M, Hutton M, Karlan B, Khan S, Klein C, Kohlmann W, Kurian A, Laronga C, Litton J, Mak J, Menendez C, Merajver S, Norquist B, Offit K, Pederson H, Reiser G, Senter-Jamieson L, Shannon K, Shatsky R, Visvanathan K, Weitzel J, Wick M, Wisinski K, Yurgelun M, Darlow S, Dwyer M. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. Journal Of The National Comprehensive Cancer Network 2021, 19: 77-102. PMID: 33406487, DOI: 10.6004/jnccn.2021.0001.Peer-Reviewed Original ResearchConceptsLikely pathogenic variantsLi-Fraumeni syndromePathogenic variantsPancreatic cancerGenetic/Familial High-Risk AssessmentCancer syndromesNCCN Clinical Practice GuidelinesBreast/ovarian cancer syndromePremenopausal breast cancerClinical practice guidelinesSoft tissue sarcomasHigh lifetime riskOvarian cancer syndromeGenetic testing/counselingRisk of breastPenetrant cancer syndromeNCCN guidelinesTissue sarcomasAdrenocortical carcinomaLifetime riskOvarian cancerProstate cancerBreast cancerGastric cancerHigh-risk assessment
2020
Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
Kramer I, Hooning M, Mavaddat N, Hauptmann M, Keeman R, Steyerberg E, Giardiello D, Antoniou A, Pharoah P, Canisius S, Abu-Ful Z, Andrulis I, Anton-Culver H, Aronson K, Augustinsson A, Becher H, Beckmann M, Behrens S, Benitez J, Bermisheva M, Bogdanova N, Bojesen S, Bolla M, Bonanni B, Brauch H, Bremer M, Brucker S, Burwinkel B, Castelao J, Chan T, Chang-Claude J, Chanock S, Chenevix-Trench G, Choi J, Clarke C, Collée J, Couch F, Cox A, Cross S, Czene K, Daly M, Devilee P, Dörk T, dos-Santos-Silva I, Dunning A, Dwek M, Eccles D, Evans D, Fasching P, Flyger H, Gago-Dominguez M, García-Closas M, García-Sáenz J, Giles G, Goldgar D, González-Neira A, Haiman C, Håkansson N, Hamann U, Hartman M, Heemskerk-Gerritsen B, Hollestelle A, Hopper J, Hou M, Howell A, Ito H, Jakimovska M, Jakubowska A, Janni W, John E, Jung A, Kang D, Kets C, Khusnutdinova E, Ko Y, Kristensen V, Kurian A, Kwong A, Lambrechts D, Le Marchand L, Li J, Lindblom A, Lubiński J, Mannermaa A, Manoochehri M, Margolin S, Matsuo K, Mavroudis D, Meindl A, Milne R, Mulligan A, Muranen T, Neuhausen S, Nevanlinna H, Newman W, Olshan A, Olson J, Olsson H, Park-Simon T, Peto J, Petridis C, Plaseska-Karanfilska D, Presneau N, Pylkäs K, Radice P, Rennert G, Romero A, Roylance R, Saloustros E, Sawyer E, Schmutzler R, Schwentner L, Scott R, See M, Shah M, Shen C, Shu X, Siesling S, Slager S, Sohn C, Southey M, Spinelli J, Stone J, Tapper W, Tengström M, Teo S, Terry M, Tollenaar R, Tomlinson I, Troester M, Vachon C, van Ongeval C, van Veen E, Winqvist R, Wolk A, Zheng W, Ziogas A, Easton D, Hall P, Schmidt M, Børresen-Dale A, Sahlberg K, Ottestad L, Kåresen R, Schlichting E, Holmen M, Sauer T, Haakensen V, Engebråten O, Naume B, Fosså A, Kiserud C, Reinertsen K, Helland Å, Riis M, Geisler J, Alnæs G, Clarke C, Marsh D, Scott C, Baxter R, Yip D, Carpenter J, Davis A, Pathmanathan N, Simpson P, Graham J, Sachchithananthan M, Amor D, Andrews L, Antill Y, Balleine R, Beesley J, Bennett I, Bogwitz M, Botes L, Brennan M, Brown M, Buckley M, Burke J, Butow P, Caldon L, Campbell I, Chauhan D, Chauhan M, Chenevix-Trench G, Christian A, Cohen P, Colley A, Crook A, Cui J, Cummings M, Dawson S, deFazio A, Delatycki M, Dickson R, Dixon J, Edkins T, Edwards S, Farshid G, Fellows A, Fenton G, Field M, Flanagan J, Fong P, Forrest L, Fox S, French J, Friedlander M, Gaff C, Gattas M, George P, Greening S, Harris M, Hart S, Hayward N, Hopper J, Hoskins C, Hunt C, James P, Jenkins M, Kidd A, Kirk J, Koehler J, Kollias J, Lakhani S, Lawrence M, Lindeman G, Lipton L, Lobb L, Mann G, Marsh D, McLachlan S, Meiser B, Milne R, Nightingale S, O'Connell S, O'Sullivan S, Ortega D, Pachter N, Patterson B, Pearn A, Phillips K, Pieper E, Rickard E, Robinson B, Saleh M, Salisbury E, Saunders C, Saunus J, Scott C, Scott C, Sexton A, Shelling A, Simpson P, Southey M, Spurdle A, Taylor J, Taylor R, Thorne H, Trainer A, Tucker K, Visvader J, Walker L, Williams R, Winship I, Young M. Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk. American Journal Of Human Genetics 2020, 107: 837-848. PMID: 33022221, PMCID: PMC7675034, DOI: 10.1016/j.ajhg.2020.09.001.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAsian PeopleBreast NeoplasmsCohort StudiesEstrogen Receptor alphaFemaleGene ExpressionGenetic Predisposition to DiseaseGenome-Wide Association StudyGenome, HumanHumansMiddle AgedMultifactorial InheritanceNeoadjuvant TherapyNeoplasms, Second PrimaryPrognosisProportional Hazards ModelsReceptor, ErbB-2Receptors, ProgesteroneRisk AssessmentWhite PeopleConceptsContralateral breast cancerPolygenic risk scoresInvasive breast cancerCBC risk prediction modelAssociated with increased CBC riskRisk of contralateral breast cancerBreast Cancer Association ConsortiumBreast cancerWomen of European ancestryStudies of Asian womenAbsolute lifetime riskUnilateral breast cancerEvidence of confoundingRisk prediction modelFollow-upStratify womenEuropean ancestryFamily historyHazard ratioRisk scoreLogistic regressionAsian womenEuropean womenGermline variantsOptimal surveillance
2019
Accuracy of Risk Estimates from the iPrevent Breast Cancer Risk Assessment and Management Tool
Phillips K, Liao Y, Milne R, MacInnis R, Collins I, Buchsbaum R, Weideman P, Bickerstaffe A, Nesci S, Chung W, Southey M, Knight J, Whittemore A, Dite G, Goldgar D, Giles G, Glendon G, Thorne H, Niedermayr E, Stanhope L, O’Connor S, Picken S, Cuzick J, Antoniou A, Andrulis I, John E, Daly M, Buys S, Hopper J, Terry M. Accuracy of Risk Estimates from the iPrevent Breast Cancer Risk Assessment and Management Tool. JNCI Cancer Spectrum 2019, 3: pkz066. PMID: 31853515, PMCID: PMC6901082, DOI: 10.1093/jncics/pkz066.Peer-Reviewed Original ResearchInternational Breast Cancer Intervention StudyBC riskDiscriminatory accuracyOvarian Analysis of Disease IncidenceProspective Family Study CohortRisk management decision support toolBreast cancerBreast cancer risk assessmentAnalysis of Disease IncidenceRisk estimatesAbsolute BC riskRisk factor dataCancer risk assessmentAccuracy of risk estimatesYears of follow-upOvarian AnalysisIntervention studiesCalibration overallC-statisticRisk management informationProspective dataStudy cohortFactor dataIPreventDecision support toolGenome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Ferreira MA, Gamazon ER, Al-Ejeh F, Aittomäki K, Andrulis IL, Anton-Culver H, Arason A, Arndt V, Aronson KJ, Arun BK, Asseryanis E, Azzollini J, Balmaña J, Barnes DR, Barrowdale D, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Białkowska K, Blomqvist C, Bogdanova NV, Bojesen SE, Bolla MK, Borg A, Brauch H, Brenner H, Broeks A, Burwinkel B, Caldés T, Caligo MA, Campa D, Campbell I, Canzian F, Carter J, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Christiansen H, Chung WK, Claes KBM, Clarke CL, Couch F, Cox A, Cross S, Czene K, Daly M, de la Hoya M, Dennis J, Devilee P, Diez O, Dörk T, Dunning A, Dwek M, Eccles D, Ejlertsen B, Ellberg C, Engel C, Eriksson M, Fasching P, Fletcher O, Flyger H, Friedman E, Frost D, Gabrielson M, Gago-Dominguez M, Ganz P, Gapstur S, Garber J, García-Closas M, García-Sáenz J, Gaudet M, Giles G, Glendon G, Godwin A, Goldberg M, Goldgar D, González-Neira A, Greene M, Gronwald J, Guénel P, Haiman C, Hall P, Hamann U, He W, Heyworth J, Hogervorst F, Hollestelle A, Hoover R, Hopper J, Hulick P, Humphreys K, Imyanitov E, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Jankowitz R, John E, Johnson N, Joseph V, Karlan B, Khusnutdinova E, Kiiski J, Ko Y, Jones M, Konstantopoulou I, Kristensen V, Laitman Y, Lambrechts D, Lazaro C, Leslie G, Lester J, Lesueur F, Lindström S, Long J, Loud J, Lubiński J, Makalic E, Mannermaa A, Manoochehri M, Margolin S, Maurer T, Mavroudis D, McGuffog L, Meindl A, Menon U, Michailidou K, Miller A, Montagna M, Moreno F, Moserle L, Mulligan A, Nathanson K, Neuhausen S, Nevanlinna H, Nevelsteen I, Nielsen F, Nikitina-Zake L, Nussbaum R, Offit K, Olah E, Olopade O, Olsson H, Osorio A, Papp J, Park-Simon T, Parsons M, Pedersen I, Peixoto A, Peterlongo P, Pharoah P, Plaseska-Karanfilska D, Poppe B, Presneau N, Radice P, Rantala J, Rennert G, Risch H, Saloustros E, Sanden K, Sawyer E, Schmidt M, Schmutzler R, Sharma P, Shu X, Simard J, Singer C, Soucy P, Southey M, Spinelli J, Spurdle A, Stone J, Swerdlow A, Tapper W, Taylor J, Teixeira M, Terry M, Teulé A, Thomassen M, Thöne K, Thull D, Tischkowitz M, Toland A, Torres D, Truong T, Tung N, Vachon C, van Asperen C, van den Ouweland A, van Rensburg E, Vega A, Viel A, Wang Q, Wappenschmidt B, Weitzel J, Wendt C, Winqvist R, Yang X, Yannoukakos D, Ziogas A, Kraft P, Antoniou A, Zheng W, Easton D, Milne R, Beesley J, Chenevix-Trench G. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. Nature Communications 2019, 10: 1741. PMID: 30988301, PMCID: PMC6465407, DOI: 10.1038/s41467-018-08053-5.Peer-Reviewed Original ResearchConceptsExpression quantitative trait lociGenome-wide association studiesTarget genesMultiple expression quantitative trait lociBreast cancer risk variantsPrevious genome-wide association studyQuantitative trait lociGenome-wide associationGene-based testsBreast cancerBreast cancer susceptibility lociCancer susceptibility lociRisk-associated variantsImmune cellsTrait lociTranscriptome studiesRisk lociGene expressionAssociation studiesOverall breast cancer riskSusceptibility lociMultiple tissuesBreast cancer riskNegative breast cancerRisk variants
2018
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
Mavaddat N, Michailidou K, Dennis J, Lush M, Fachal L, Lee A, Tyrer J, Chen T, Wang Q, Bolla M, Yang X, Adank M, Ahearn T, Aittomäki K, Allen J, Andrulis I, Anton-Culver H, Antonenkova N, Arndt V, Aronson K, Auer P, Auvinen P, Barrdahl M, Freeman L, Beckmann M, Behrens S, Benitez J, Bermisheva M, Bernstein L, Blomqvist C, Bogdanova N, Bojesen S, Bonanni B, Børresen-Dale A, Brauch H, Bremer M, Brenner H, Brentnall A, Brock I, Brooks-Wilson A, Brucker S, Brüning T, Burwinkel B, Campa D, Carter B, Castelao J, Chanock S, Chlebowski R, Christiansen H, Clarke C, Collée J, Cordina-Duverger E, Cornelissen S, Couch F, Cox A, Cross S, Czene K, Daly M, Devilee P, Dörk T, dos-Santos-Silva I, Dumont M, Durcan L, Dwek M, Eccles D, Ekici A, Eliassen A, Ellberg C, Engel C, Eriksson M, Evans D, Fasching P, Figueroa J, Fletcher O, Flyger H, Försti A, Fritschi L, Gabrielson M, Gago-Dominguez M, Gapstur S, García-Sáenz J, Gaudet M, Georgoulias V, Giles G, Gilyazova I, Glendon G, Goldberg M, Goldgar D, González-Neira A, Alnæs G, Grip M, Gronwald J, Grundy A, Guénel P, Haeberle L, Hahnen E, Haiman C, Håkansson N, Hamann U, Hankinson S, Harkness E, Hart S, He W, Hein A, Heyworth J, Hillemanns P, Hollestelle A, Hooning M, Hoover R, Hopper J, Howell A, Huang G, Humphreys K, Hunter D, Jakimovska M, Jakubowska A, Janni W, John E, Johnson N, Jones M, Jukkola-Vuorinen A, Jung A, Kaaks R, Kaczmarek K, Kataja V, Keeman R, Kerin M, Khusnutdinova E, Kiiski J, Knight J, Ko Y, Kosma V, Koutros S, Kristensen V, Krüger U, Kühl T, Lambrechts D, Le Marchand L, Lee E, Lejbkowicz F, Lilyquist J, Lindblom A, Lindström S, Lissowska J, Lo W, Loibl S, Long J, Lubiński J, Lux M, MacInnis R, Maishman T, Makalic E, Kostovska I, Mannermaa A, Manoukian S, Margolin S, Martens J, Martinez M, Mavroudis D, McLean C, Meindl A, Menon U, Middha P, Miller N, Moreno F, Mulligan A, Mulot C, Muñoz-Garzon V, Neuhausen S, Nevanlinna H, Neven P, Newman W, Nielsen S, Nordestgaard B, Norman A, Offit K, Olson J, Olsson H, Orr N, Pankratz V, Park-Simon T, Perez J, Pérez-Barrios C, Peterlongo P, Peto J, Pinchev M, Plaseska-Karanfilska D, Polley E, Prentice R, Presneau N, Prokofyeva D, Purrington K, Pylkäs K, Rack B, Radice P, Rau-Murthy R, Rennert G, Rennert H, Rhenius V, Robson M, Romero A, Ruddy K, Ruebner M, Saloustros E, Sandler D, Sawyer E, Schmidt D, Schmutzler R, Schneeweiss A, Schoemaker M, Schumacher F, Schürmann P, Schwentner L, Scott C, Scott R, Seynaeve C, Shah M, Sherman M, Shrubsole M, Shu X, Slager S, Smeets A, Sohn C, Soucy P, Southey M, Spinelli J, Stegmaier C, Stone J, Swerdlow A, Tamimi R, Tapper W, Taylor J, Terry M, Thöne K, Tollenaar R, Tomlinson I, Truong T, Tzardi M, Ulmer H, Untch M, Vachon C, van Veen E, Vijai J, Weinberg C, Wendt C, Whittemore A, Wildiers H, Willett W, Winqvist R, Wolk A, Yang X, Yannoukakos D, Zhang Y, Zheng W, Ziogas A, Investigators A, Investigators K, Collaborators N, Dunning A, Thompson D, Chenevix-Trench G, Chang-Claude J, Schmidt M, Hall P, Milne R, Pharoah P, Antoniou A, Chatterjee N, Kraft P, García-Closas M, Simard J, Easton D. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes. American Journal Of Human Genetics 2018, 104: 21-34. PMID: 30554720, PMCID: PMC6323553, DOI: 10.1016/j.ajhg.2018.11.002.Peer-Reviewed Original ResearchConceptsPolygenic risk scoresSingle-nucleotide polymorphismsBreast cancer prevention programsPredictor of breast cancer riskCase subjectsRisk of breast cancerOverall breast cancerRisk scoreBreast cancerBreast cancer riskControl subjects of European ancestryCancer prevention programsSubjects of European ancestryArea under receiver-operating curveProspective studyGenome-wide association datasetER-negative diseaseUK BiobankCancer riskStratification of womenGenome-wide arrayMiddle quintileLifetime riskImprove screeningLasso penalized regressionBreast Cancer Screening and Diagnosis, Version 3.2018, NCCN Clinical Practice Guidelines in Oncology.
Bevers TB, Helvie M, Bonaccio E, Calhoun KE, Daly MB, Farrar WB, Garber JE, Gray R, Greenberg CC, Greenup R, Hansen NM, Harris RE, Heerdt AS, Helsten T, Hodgkiss L, Hoyt TL, Huff JG, Jacobs L, Lehman CD, Monsees B, Niell BL, Parker CC, Pearlman M, Philpotts L, Shepardson LB, Smith ML, Stein M, Tumyan L, Williams C, Bergman MA, Kumar R. Breast Cancer Screening and Diagnosis, Version 3.2018, NCCN Clinical Practice Guidelines in Oncology. Journal Of The National Comprehensive Cancer Network 2018, 16: 1362-1389. PMID: 30442736, DOI: 10.6004/jnccn.2018.0083.Peer-Reviewed Original ResearchConceptsBreast cancer screeningCancer screeningNCCN Clinical Practice GuidelinesBreast cancer screening recommendationsCancer screening recommendationsClinical practice guidelinesAbnormal imagingNCCN guidelinesScreening recommendationsPhysical findingsBreast cancerDiagnostic evaluationFull guidelinePractice guidelinesClinical decisionDiagnosisGuidelinesScreeningCancerOncologyAssociations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis
Shu X, Wu L, Khankari N, Shu X, Wang T, Michailidou K, Bolla M, Wang Q, Dennis J, Milne R, Schmidt M, Pharoah P, Andrulis I, Hunter D, Simard J, Easton D, Zheng W, Alicia B, Anton-Culver H, Antonenkova N, Arndt V, Aronson K, Auer P, Barrdahl M, Baynes C, Freeman L, Beckmann M, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Bogdanova N, Bojesen S, Brauch H, Brenner H, Brinton L, Broberg P, Brucker S, Brüning T, Burwinkel B, Cai Q, Caldés T, Canzian F, Carter B, Castelao J, Chang-Claude J, Chenevix-Trench G, Cheng T, Clarke C, Conroy D, Couch F, Cox D, Cox A, Cross S, Cunningham J, Czene K, Daly M, Doheny K, Dörk T, dos-Santos-Silva I, Dumont M, Dunning A, Dwek M, Earp H, Eccles D, Eliassen A, Engel C, Eriksson M, Evans D, Fachal L, Fasching P, Figueroa J, Fletcher O, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, Gapstur S, García-Closas M, Gaudet M, Ghoussaini M, Giles G, Goldberg M, Goldgar D, González-Neira A, Guénel P, Hahnen E, Haiman C, Håkansson N, Hall P, Hallberg E, Hamann U, Harrington P, He W, Hein A, Hicks B, Hillemanns P, Hogervorst F, Hollestelle A, Hoover R, Hopper J, Howell A, Huang G, Jakubowska A, Janni W, John E, Johnson N, Jones K, Jung A, Kaaks R, Kabisch M, Kerin M, Khusnutdinova E, Kitahara C, Kosma V, Koutros S, Kraft P, Kristensen V, Lambrechts D, Le Marchand L, Lindström S, Linet M, Lissowska J, Loibl S, Lubinski J, Luccarini C, Lux M, Maishman T, Kostovska I, Mannermaa A, Manoukian S, Manson J, Margolin S, Mavroudis D, Meijers-Heijboer H, Meindl A, Menon U, Meyer J, Mulligan A, Neuhausen S, Nevanlinna H, Neven P, Newman W, Nielsen S, Nordestgaard B, Olopade O, Olshan A, Olson J, Olsson H, Olswold C, Orr N, Perou C, Peto J, Plaseska-Karanfilska D, Prentice R, Presneau N, Pylkäs K, Rack B, Radice P, Rahman N, Rennert G, Rennert H, Romero A, Romm J, Saloustros E, Sandler D, Sawyer E, Schmutzler R, Schneeweiss A, Scott R, Scott C, Seal S, Seynaeve C, Smeets A, Southey M, Spinelli J, Stone J, Surowy H, Swerdlow A, Tamimi R, Tapper W, Taylor J, Terry M, Tessier D, Thöne K, Tollenaar R, Torres D, Troester M, Truong T, Untch M, Vachon C, Van Den Berg D, van den Ouweland A, van Veen E, Vincent D, Waisfisz Q, Weinberg C, Wendt C, Whittemore A, Wildiers H, Winqvist R, Wolk A, Xia L, Yang X, Ziogas A, Ziv E. Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis. International Journal Of Epidemiology 2018, 48: 795-806. PMID: 30277539, PMCID: PMC6734940, DOI: 10.1093/ije/dyy201.Peer-Reviewed Original ResearchConceptsBreast cancer riskAssociated with breast cancer riskBody mass indexMendelian randomization analysisCancer riskRandomization analysisAssociation of breast cancer riskInverse associationFamily history of breast cancerGenome-wide association study consortiaAssociated with risk of type 2 diabetesBreast Cancer Association ConsortiumHistory of breast cancerFasting insulinAetiology of breast cancerType 2 diabetes riskControls of European descentRisk of type 2 diabetesWaist-hip ratioAssociation of obesityCirculating fasting insulinAssociated with riskBreast cancerIndividual-level dataGenetic instrumentsThe 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 methodsProspective evaluation of body size and breast cancer risk among BRCA1 and BRCA2 mutation carriers
Kim S, Huzarski T, Gronwald J, Singer C, Møller P, Lynch H, Armel S, Karlan B, Foulkes W, Neuhausen S, Senter L, Eisen A, Eng C, Panchal S, Pal T, Olopade O, Zakalik D, Lubinski J, Narod S, Kotsopoulos J, Ainsworth P, Bordeleau L, Tung N, Friedman E, Meschino W, Snyder C, Metcalfe K, Warner E, Rosen B, Demsky R, Weitzel J, Panabaker K, Couch F, Manoukian S, Pasini B, Daly M, Steele L, Saal H, Fallen T, Wood M, McKinnon W, Lemire E, Chudley A, Serfas K, Elser C, Vadaparampil S, Ginsburg O, Cullinane C, Blum J, Ross T, Mauer C, Kwong A, Cybulski C, McCuaig J, Rayson D, Isaacs C. Prospective evaluation of body size and breast cancer risk among BRCA1 and BRCA2 mutation carriers. International Journal Of Epidemiology 2018, 47: 987-997. PMID: 29547931, PMCID: PMC6005062, DOI: 10.1093/ije/dyy039.Peer-Reviewed Original ResearchBreast cancer riskCurrent body mass indexBRCA mutation carriersRisk of breast cancerBody mass indexPost-menopausal breast cancerCancer riskMutation carriersBreast cancerRisk of pre-menopausal breast cancerBiennial follow-up questionnairesHazard ratioIncident breast cancerEvaluation of body sizePre-menopausal breast cancerConfidence intervalsMeasures of adiposityBRCA2 mutation carriersFollow-up questionnaireWeight changeAssociated with riskCox proportional hazards modelsBaseline questionnaireProportional hazards modelFollow-up
2016
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
Couch F, Kuchenbaecker K, Michailidou K, Mendoza-Fandino G, Nord S, Lilyquist J, Olswold C, Hallberg E, Agata S, Ahsan H, Aittomäki K, Ambrosone C, Andrulis I, Anton-Culver H, Arndt V, Arun B, Arver B, Barile M, Barkardottir R, Barrowdale D, Beckmann L, Beckmann M, Benitez J, Blank S, Blomqvist C, Bogdanova N, Bojesen S, Bolla M, Bonanni B, Brauch H, Brenner H, Burwinkel B, Buys S, Caldes T, Caligo M, Canzian F, Carpenter J, Chang-Claude J, Chanock S, Chung W, Claes K, Cox A, Cross S, Cunningham J, Czene K, Daly M, Damiola F, Darabi H, de la Hoya M, Devilee P, Diez O, Ding Y, Dolcetti R, Domchek S, Dorfling C, dos-Santos-Silva I, Dumont M, Dunning A, Eccles D, Ehrencrona H, Ekici A, Eliassen H, Ellis S, Fasching P, Figueroa J, Flesch-Janys D, Försti A, Fostira F, Foulkes W, Friebel T, Friedman E, Frost D, Gabrielson M, Gammon M, Ganz P, Gapstur S, Garber J, Gaudet M, Gayther S, Gerdes A, Ghoussaini M, Giles G, Glendon G, Godwin A, Goldberg M, Goldgar D, González-Neira A, Greene M, Gronwald J, Guénel P, Gunter M, Haeberle L, Haiman C, Hamann U, Hansen T, Hart S, Healey S, Heikkinen T, Henderson B, Herzog J, Hogervorst F, Hollestelle A, Hooning M, Hoover R, Hopper J, Humphreys K, Hunter D, Huzarski T, Imyanitov E, Isaacs C, Jakubowska A, James P, Janavicius R, Jensen U, John E, Jones M, Kabisch M, Kar S, Karlan B, Khan S, Khaw K, Kibriya M, Knight J, Ko Y, Konstantopoulou I, Kosma V, Kristensen V, Kwong A, Laitman Y, Lambrechts D, Lazaro C, Lee E, Le Marchand L, Lester J, Lindblom A, Lindor N, Lindstrom S, Liu J, Long J, Lubinski J, Mai P, Makalic E, Malone K, Mannermaa A, Manoukian S, Margolin S, Marme F, Martens J, McGuffog L, Meindl A, Miller A, Milne R, Miron P, Montagna M, Mazoyer S, Mulligan A, Muranen T, Nathanson K, Neuhausen S, Nevanlinna H, Nordestgaard B, Nussbaum R, Offit K, Olah E, Olopade O, Olson J, Osorio A, Park S, Peeters P, Peissel B, Peterlongo P, Peto J, Phelan C, Pilarski R, Poppe B, Pylkäs K, Radice P, Rahman N, Rantala J, Rappaport C, Rennert G, Richardson A, Robson M, Romieu I, Rudolph A, Rutgers E, Sanchez M, Santella R, Sawyer E, Schmidt D, Schmidt M, Schmutzler R, Schumacher F, Scott R, Senter L, Sharma P, Simard J, Singer C, Sinilnikova O, Soucy P, Southey M, Steinemann D, Stenmark-Askmalm M, Stoppa-Lyonnet D, Swerdlow A, Szabo C, Tamimi R, Tapper W, Teixeira M, Teo S, Terry M, Thomassen M, Thompson D, Tihomirova L, Toland A, Tollenaar R, Tomlinson I, Truong T, Tsimiklis H, Teulé A, Tumino R, Tung N, Turnbull C, Ursin G, van Deurzen C, van Rensburg E, Varon-Mateeva R, Wang Z, Wang-Gohrke S, Weiderpass E, Weitzel J, Whittemore A, Wildiers H, Winqvist R, Yang X, Yannoukakos D, Yao S, Zamora M, Zheng W, Hall P, Kraft P, Vachon C, Slager S, Chenevix-Trench G, Pharoah P, Monteiro A, García-Closas M, Easton D, Antoniou A. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. Nature Communications 2016, 7: 11375. PMID: 27117709, PMCID: PMC4853421, DOI: 10.1038/ncomms11375.Peer-Reviewed Original ResearchConceptsGenome-wide significant associationGenome-wide association studiesBreast cancer risk lociSusceptibility lociCancer risk lociNovel susceptibility lociEQTL studiesICOGS arrayRisk lociAssociation studiesUnidentified locusLociPPIL3WDR43Common variantsNegative breast cancerFamilial relative riskCancer etiologyER-negative casesTRMT61BEstrogen receptor-negative breast cancerER-negative breast cancerKLF5BRCA1Breast cancerDietary Intake of Isoflavone and All‐Cause Mortality in Women with Breast Cancer: the Breast Cancer Family Registry
Haslam D, John E, Terry M, Knight J, Andrulis I, Daly M, Buys S, Zhang F. Dietary Intake of Isoflavone and All‐Cause Mortality in Women with Breast Cancer: the Breast Cancer Family Registry. The FASEB Journal 2016, 30 DOI: 10.1096/fasebj.30.1_supplement.902.8.Peer-Reviewed Original ResearchBreast Cancer Family RegistryBody mass indexCancer Family RegistryCause mortalityDietary intakeBreast cancerFamily RegistryPhysical activityRace/ethnicityHormonal therapyNormal weightMass indexFirst primary invasive breast cancerPrimary invasive breast cancerTumor estrogen receptor statusHealth Eating IndexTumor hormone receptorsDrinks/weekFood frequency questionnaireInvasive breast cancerEstrogen receptor statusPost-menopausal womenTotal fiber intakeBreast cancer survivalHigh dietary intake
2015
BRCA2 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