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, HumanGenome-Wide Association StudyHumansMiddle 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 surveillanceGenome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
Zhang H, Ahearn TU, Lecarpentier J, Barnes D, Beesley J, Qi G, Jiang X, O’Mara T, Zhao N, Bolla MK, Dunning AM, Dennis J, Wang Q, Ful ZA, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Arun BK, Auer PL, Azzollini J, Barrowdale D, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bialkowska K, Blanco A, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Bondavalli D, Borg A, Brauch H, Brenner H, Briceno I, Broeks A, Brucker SY, Brüning T, Burwinkel B, Buys SS, Byers H, Caldés T, Caligo MA, Calvello M, Campa D, Castelao JE, Chang-Claude J, Chanock SJ, Christiaens M, Christiansen H, Chung WK, Claes KBM, Clarke CL, Cornelissen S, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Diez O, Domchek SM, Dörk T, Dwek M, Eccles DM, Ekici AB, Evans DG, Fasching PA, Figueroa J, Foretova L, Fostira F, Friedman E, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, García-Sáenz JA, Gaudet MM, Gayther SA, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Gronwald J, Guénel P, Häberle L, Hahnen E, Haiman CA, Hake CR, Hall P, Hamann U, Harkness EF, Heemskerk-Gerritsen BAM, Hillemanns P, Hogervorst FBL, Holleczek B, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A, Huebner H, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jager A, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John E, Jones M, Jung A, Kaaks R, Kapoor P, Karlan B, Keeman R, Khan S, Khusnutdinova E, Kitahara C, Ko Y, Konstantopoulou I, Koppert L, Koutros S, Kristensen V, Laenkholm A, Lambrechts D, Larsson S, Laurent-Puig P, Lazaro C, Lazarova E, Lejbkowicz F, Leslie G, Lesueur F, Lindblom A, Lissowska J, Lo W, Loud J, Lubinski J, Lukomska A, MacInnis R, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez M, Matricardi L, McGuffog L, McLean C, Mebirouk N, Meindl A, Menon U, Miller A, Mingazheva E, Montagna M, Mulligan A, Mulot C, Muranen T, Nathanson K, Neuhausen S, Nevanlinna H, Neven P, Newman W, Nielsen F, Nikitina-Zake L, Nodora J, Offit K, Olah E, Olopade O, Olsson H, Orr N, Papi L, Papp J, Park-Simon T, Parsons M, Peissel B, Peixoto A, Peshkin B, Peterlongo P, Peto J, Phillips K, Piedmonte M, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Prokofyeva D, Rack B, Radice P, Ramus S, Rantala J, Rashid M, Rennert G, Rennert H, Risch H, Romero A, Rookus M, Rübner M, Rüdiger T, Saloustros E, Sampson S, Sandler D, Sawyer E, Scheuner M, Schmutzler R, Schneeweiss A, Schoemaker M, Schöttker B, Schürmann P, Senter L, Sharma P, Sherman M, Shu X, Singer C, Smichkoska S, Soucy P, Southey M, Spinelli J, Stone J, Stoppa-Lyonnet D, Swerdlow A, Szabo C, Tamimi R, Tapper W, Taylor J, Teixeira M, Terry M, Thomassen M, Thull D, Tischkowitz M, Toland A, Tollenaar R, Tomlinson I, Torres D, Troester M, Truong T, Tung N, Untch M, Vachon C, van den Ouweland A, van der Kolk L, van Veen E, vanRensburg E, Vega A, Wappenschmidt B, Weinberg C, Weitzel J, Wildiers H, Winqvist R, Wolk A, Yang X, Yannoukakos D, Zheng W, Zorn K, Milne R, Kraft P, Simard J, Pharoah P, Michailidou K, Antoniou A, Schmidt M, Chenevix-Trench G, Easton D, Chatterjee N, García-Closas M. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. Nature Genetics 2020, 52: 572-581. PMID: 32424353, PMCID: PMC7808397, DOI: 10.1038/s41588-020-0609-2.Peer-Reviewed Original ResearchConceptsSusceptibility lociAssociation studiesGenome-wide association studiesCell-specific enhancerWide association studyNovel breast cancer susceptibility lociNovel susceptibility lociBasal mammary cellsBreast cancer susceptibility lociCancer susceptibility lociTriple-negative diseaseCancer susceptibility variantsChip heritabilityNovel lociPolygenic risk scoresSilico analysisLociSusceptibility variantsGenetic correlationsRisk scoreMammary cellsHuman epidermal growth factor receptor 2 (HER2) statusEpidermal growth factor receptor 2 statusBreast cancer susceptibility variantsEuropean ancestry