2024
Physical 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 increaseYears
2023
Adolescent 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
2022
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
Hakkaart C, Pearson J, Marquart L, Dennis J, Wiggins G, Barnes D, Robinson B, Mace P, Aittomäki K, Andrulis I, Arun B, Azzollini J, Balmaña J, Barkardottir R, Belhadj S, Berger L, Blok M, Boonen S, Borde J, Bradbury A, Brunet J, Buys S, Caligo M, Campbell I, Chung W, Claes K, Collonge-Rame M, Cook J, Cosgrove C, Couch F, Daly M, Dandiker S, Davidson R, de la Hoya M, de Putter R, Delnatte C, Dhawan M, Diez O, Ding Y, Domchek S, Donaldson A, Eason J, Easton D, Ehrencrona H, Engel C, Evans D, Faust U, Feliubadaló L, Fostira F, Friedman E, Frone M, Frost D, Garber J, Gayther S, Gehrig A, Gesta P, Godwin A, Goldgar D, Greene M, Hahnen E, Hake C, Hamann U, Hansen T, Hauke J, Hentschel J, Herold N, Honisch E, Hulick P, Imyanitov E, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, John E, Joseph V, Karlan B, Kemp Z, Kirk J, Konstantopoulou I, Koudijs M, Kwong A, Laitman Y, Lalloo F, Lasset C, Lautrup C, Lazaro C, Legrand C, Leslie G, Lesueur F, Mai P, Manoukian S, Mari V, Martens J, McGuffog L, Mebirouk N, Meindl A, Miller A, Montagna M, Moserle L, Mouret-Fourme E, Musgrave H, Nambot S, Nathanson K, Neuhausen S, Nevanlinna H, Yie J, Nguyen-Dumont T, Nikitina-Zake L, Offit K, Olah E, Olopade O, Osorio A, Ott C, Park S, Parsons M, Pedersen I, Peixoto A, Perez-Segura P, Peterlongo P, Pocza T, Radice P, Ramser J, Rantala J, Rodriguez G, Rønlund K, Rosenberg E, Rossing M, Schmutzler R, Shah P, Sharif S, Sharma P, Side L, Simard J, Singer C, Snape K, Steinemann D, Stoppa-Lyonnet D, Sutter C, Tan Y, Teixeira M, Teo S, Thomassen M, Thull D, Tischkowitz M, Toland A, Trainer A, Tripathi V, Tung N, van Engelen K, van Rensburg E, Vega A, Viel A, Walker L, Weitzel J, Wevers M, Chenevix-Trench G, Spurdle A, Antoniou A, Walker L. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers. Communications Biology 2022, 5: 1061. PMID: 36203093, PMCID: PMC9537519, DOI: 10.1038/s42003-022-03978-6.Peer-Reviewed Original ResearchConceptsCopy number variantsBreast cancer riskPathogenic variant carriersVariant carriersGermline copy number variantsCancer riskRisk modifier genesGenome-wide analysisBRCA1 pathogenic variant carriersModifiers of breast cancer riskDNA-damaging agentsBRCA2 pathogenic variant carriersDecreased breast cancer riskBreast cancer risk estimationDeleterious variantsBRCA2 variantsPathogenic BRCA1Pathogenic variantsReduced mRNA expressionDamaging agentsAssociated with reduced cellular proliferationBRCA1Variant cellsBRCA1 carriersCancer risk estimates
2021
Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
Coignard J, Lush M, Beesley J, O’Mara T, Dennis J, Tyrer J, Barnes D, McGuffog L, Leslie G, Bolla M, Adank M, Agata S, Ahearn T, Aittomäki K, Andrulis I, Anton-Culver H, Arndt V, Arnold N, Aronson K, Arun B, Augustinsson A, Azzollini J, Barrowdale D, Baynes C, Becher H, Bermisheva M, Bernstein L, Białkowska K, Blomqvist C, Bojesen S, Bonanni B, Borg A, Brauch H, Brenner H, Burwinkel B, Buys S, Caldés T, Caligo M, Campa D, Carter B, Castelao J, Chang-Claude J, Chanock S, Chung W, Claes K, Clarke C, Collée J, Conroy D, Czene K, Daly M, Devilee P, Diez O, Ding Y, Domchek S, Dörk T, dos-Santos-Silva I, Dunning A, Dwek M, Eccles D, Eliassen A, Engel C, Eriksson M, Evans D, Fasching P, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gago-Dominguez M, Gapstur S, Garber J, Garcia-Barberan V, García-Closas M, García-Sáenz J, Gaudet M, Gayther S, Gehrig A, Georgoulias V, Giles G, Godwin A, Goldberg M, Goldgar D, González-Neira A, Greene M, Guénel P, Haeberle L, Hahnen E, Haiman C, Håkansson N, Hall P, Hamann U, Harrington P, Hart S, He W, Hogervorst F, Hollestelle A, Hopper J, Horcasitas D, Hulick P, Hunter D, Imyanitov E, Jager A, Jakubowska A, James P, Jensen U, John E, Jones M, Kaaks R, Kapoor P, Karlan B, Keeman R, Khusnutdinova E, Kiiski J, Ko Y, Kosma V, Kraft P, Kurian A, Laitman Y, Lambrechts D, Le Marchand L, Lester J, Lesueur F, Lindstrom T, Lopez-Fernández A, Loud J, Luccarini C, Mannermaa A, Manoukian S, Margolin S, Martens J, Mebirouk N, Meindl A, Miller A, Milne R, Montagna M, Nathanson K, Neuhausen S, Nevanlinna H, Nielsen F, O’Brien K, Olopade O, Olson J, Olsson H, Osorio A, Ottini L, Park-Simon T, Parsons M, Pedersen I, Peshkin B, Peterlongo P, Peto J, Pharoah P, Phillips K, Polley E, Poppe B, Presneau N, Pujana M, Punie K, Radice P, Rantala J, Rashid M, Rennert G, Rennert H, Robson M, Romero A, Rossing M, Saloustros E, Sandler D, Santella R, Scheuner M, Schmidt M, Schmidt G, Scott C, Sharma P, Soucy P, Southey M, Spinelli J, Steinsnyder Z, Stone J, Stoppa-Lyonnet D, Swerdlow A, Tamimi R, Tapper W, Taylor J, Terry M, Teulé A, Thull D, Tischkowitz M, Toland A, Torres D, Trainer A, Truong T, Tung N, Vachon C, Vega A, Vijai J, Wang Q, Wappenschmidt B, Weinberg C, Weitzel J, Wendt C, Wolk A, Yadav S, Yang X, Yannoukakos D, Zheng W, Ziogas A, Zorn K, Park S, Thomassen M, Offit K, Schmutzler R, Couch F, Simard J, Chenevix-Trench G, Easton D, Andrieu N, Antoniou A. Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. Nature Communications 2021, 12: 2986. PMID: 33990587, PMCID: PMC8121813, DOI: 10.1038/s41467-021-23162-4.Peer-Reviewed Original Research
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
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 regressionAssociations 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 modelCohortProspective 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
Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
Vigorito E, Kuchenbaecker K, Beesley J, Adlard J, Agnarsson B, Andrulis I, Arun B, Barjhoux L, Belotti M, Benitez J, Berger A, Bojesen A, Bonanni B, Brewer C, Caldes T, Caligo M, Campbell I, Chan S, Claes K, Cohn D, Cook J, Daly M, Damiola F, Davidson R, de Pauw A, Delnatte C, Diez O, Domchek S, Dumont M, Durda K, Dworniczak B, Easton D, Eccles D, Edwinsdotter Ardnor C, Eeles R, Ejlertsen B, Ellis S, Evans D, Feliubadalo L, Fostira F, Foulkes W, Friedman E, Frost D, Gaddam P, Ganz P, Garber J, Garcia-Barberan V, Gauthier-Villars M, Gehrig A, Gerdes A, Giraud S, Godwin A, Goldgar D, Hake C, Hansen T, Healey S, Hodgson S, Hogervorst F, Houdayer C, Hulick P, Imyanitov E, Isaacs C, Izatt L, Izquierdo A, Jacobs L, Jakubowska A, Janavicius R, Jaworska-Bieniek K, Jensen U, John E, Vijai J, Karlan B, Kast K, Investigators K, Khan S, Kwong A, Laitman Y, Lester J, Lesueur F, Liljegren A, Lubinski J, Mai P, Manoukian S, Mazoyer S, Meindl A, Mensenkamp A, Montagna M, Nathanson K, Neuhausen S, Nevanlinna H, Niederacher D, Olah E, Olopade O, Ong K, Osorio A, Park S, Paulsson-Karlsson Y, Pedersen I, Peissel B, Peterlongo P, Pfeiler G, Phelan C, Piedmonte M, Poppe B, Pujana M, Radice P, Rennert G, Rodriguez G, Rookus M, Ross E, Schmutzler R, Simard J, Singer C, Slavin T, Soucy P, Southey M, Steinemann D, Stoppa-Lyonnet D, Sukiennicki G, Sutter C, Szabo C, Tea M, Teixeira M, Teo S, Terry M, Thomassen M, Tibiletti M, Tihomirova L, Tognazzo S, van Rensburg E, Varesco L, Varon-Mateeva R, Vratimos A, Weitzel J, McGuffog L, Kirk J, Toland A, Hamann U, Lindor N, Ramus S, Greene M, Couch F, Offit K, Pharoah P, Chenevix-Trench G, Antoniou A. Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. PLOS ONE 2016, 11: e0158801. PMID: 27463617, PMCID: PMC4963094, DOI: 10.1371/journal.pone.0158801.Peer-Reviewed Original ResearchConceptsOvarian cancer riskBRCA2 mutation carriersModify ovarian cancer riskBRCA1 mutation carriersCancer riskOvarian cancer associationMutation carriersCausal variantsFine-scale mappingGeneral populationBRCA-2 mutation carriersCancer associationCancer risk modificationGenome wide association studiesPotential causal variantsTranscription start siteCorrelated SNPsGenotype imputationRisk modificationStart siteAssociation studiesGenotype dataBRCA1BRCA2BNC2
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 hazardsBreast Cancer Risk Reduction, Version 2.2015.
Bevers T, Ward J, Arun B, Colditz G, Cowan K, Daly M, Garber J, Gemignani M, Gradishar W, Jordan J, Korde L, Kounalakis N, Krontiras H, Kumar S, Kurian A, Laronga C, Layman R, Loftus L, Mahoney M, Merajver S, Meszoely I, Mortimer J, Newman L, Pritchard E, Pruthi S, Seewaldt V, Specht M, Visvanathan K, Wallace A, Bergman M, Kumar R. Breast Cancer Risk Reduction, Version 2.2015. Journal Of The National Comprehensive Cancer Network 2015, 13: 880-915. PMID: 26150582, DOI: 10.6004/jnccn.2015.0105.Peer-Reviewed Original Research
2013
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer
Purrington K, Slager S, Eccles D, Yannoukakos D, Fasching P, Miron P, Carpenter J, Chang-Claude J, Martin N, Montgomery G, Kristensen V, Anton-Culver H, Goodfellow P, Tapper W, Rafiq S, Gerty S, Durcan L, Konstantopoulou I, Fostira F, Vratimos A, Apostolou P, Konstanta I, Kotoula V, Lakis S, Dimopoulos M, Skarlos D, Pectasides D, Fountzilas G, Beckmann M, Hein A, Ruebner M, Ekici A, Hartmann A, Schulz-Wendtland R, Renner S, Janni W, Rack B, Scholz C, Neugebauer J, Andergassen U, Lux M, Haeberle L, Clarke C, Pathmanathan N, Rudolph A, Flesch-Janys D, Nickels S, Olson J, Ingle J, Olswold C, Slettedahl S, Eckel-Passow J, Anderson S, Visscher D, Cafourek V, Sicotte H, Prodduturi N, Weiderpass E, Bernstein L, Ziogas A, Ivanovich J, Giles G, Baglietto L, Southey M, Kosma V, Fischer H, Network T, Reed M, Cross S, Deming-Halverson S, Shrubsole M, Cai Q, Shu X, Daly M, Weaver J, Ross E, Klemp J, Sharma P, Torres D, Rüdiger T, Wölfing H, Ulmer H, Försti A, Khoury T, Kumar S, Pilarski R, Shapiro C, Greco D, Heikkilä P, Aittomäki K, Blomqvist C, Irwanto A, Liu J, Pankratz V, Wang X, Severi G, Mannermaa A, Easton D, Hall P, Brauch H, Cox A, Zheng W, Godwin A, Hamann U, Ambrosone C, Toland A, Nevanlinna H, Vachon C, Couch F. Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer. Carcinogenesis 2013, 35: 1012-1019. PMID: 24325915, PMCID: PMC4004200, DOI: 10.1093/carcin/bgt404.Peer-Reviewed Original ResearchConceptsTN breast cancerTriple-negative breast cancerBreast cancerBreast cancer susceptibility lociRisk factorsPolygenic risk scoresSingle nucleotide polymorphismsGenome-wide association studiesBreast cancer riskCancer susceptibility lociBreast cancer risk predictionGenetic risk factorsCancer risk predictionAbsolute riskAggressive subtypeAssociation studiesTwo-stage genome-wide association studyCancer riskRisk scoreSusceptibility lociGenome-wide significant associationSignificant associationCancerBreast cancer risk variantsPTHLH locus
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
Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes
Rebbeck T, Mitra N, Domchek S, Wan F, Friebel T, Tran T, Singer C, Tea M, Blum J, Tung N, Olopade O, Weitzel J, Lynch H, Snyder C, Garber J, Antoniou A, Peock S, Evans D, Paterson J, Kennedy M, Donaldson A, Dorkins H, Easton D, Rubinstein W, Daly M, Isaacs C, Nevanlinna H, Couch F, Andrulis I, Freidman E, Laitman Y, Ganz P, Tomlinson G, Neuhausen S, Narod S, Phelan C, Greenberg R, Nathanson K. Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes. Cancer Research 2011, 71: 5792-5805. PMID: 21799032, PMCID: PMC3170727, DOI: 10.1158/0008-5472.can-11-0773.Peer-Reviewed Original ResearchConceptsOvarian cancer riskCancer riskAssociation of haplotypesAssociated with ovarian cancer riskBreast cancerBRCA1 mutationsModifiers of cancer riskFalse discovery rateEncode proteinsBRCA1-associated breast cancerElevated cancer riskBRCA1 mutation carriersInherited BRCA1 mutationsOvarian cancer diagnosisSignificant false discovery rateAssociated with timeCancer diagnosisMutation carriersGenomic variationMultiple lociBRCA1BRCC45BreastCancerGenesCommon 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
2010
Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2
Petrucelli N, Daly M, Feldman G. Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2. Genetics In Medicine 2010, 12: 245-259. PMID: 20216074, DOI: 10.1097/gim.0b013e3181d38f2f.Peer-Reviewed Original ResearchConceptsBRCA1/2 mutationsBRCA2 mutationsHereditary breastTesting of at-risk relativesFamily history of cancerOvarian cancerAt-risk relativesPrimary prevention optionsHistory of cancerPrevalence of BRCA1/2 mutationsEstimates of penetranceAshkenazi Jewish populationCancer riskProphylactic surgeryPrevention optionsFamily historyBRCA2 genesEarly interventionFamily membersBRCA2Increased surveillanceFamilial mutationsBRCA1/2BRCA1Jewish population
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