The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
Lakeman IMM, van den Broek AJ, Vos JAM, Barnes DR, Adlard J, Andrulis IL, Arason A, Arnold N, Arun BK, Balmaña J, Barrowdale D, Benitez J, Borg A, Caldés T, Caligo MA, Chung WK, Claes KBM, Collaborators G, Barouk-Simonet E, Belotti M, Berthet P, Bignon Y, Bonadona V, Paillerets B, Buecher B, Caputo S, Caron O, Castera L, Caux-Moncoutier V, Colas C, Collonge-Rame M, Coupier I, de Pauw A, Delnatte C, Elan C, Faivre L, Ferrer S, Gauthier-Villars M, Gesta P, Giraud S, Golmard L, Houdayer C, Lasset C, Laurent M, Leroux D, Longy M, Mari V, Mazoyer S, Mebirouk N, Mortemousque I, Prieur F, Pujol P, Saule C, Schuster H, Sevenet N, Sobol H, Sokolowska J, Venat-Bouvet L, Collaborators E, Ahmed M, Barwell J, Brady A, Brennan P, Brewer C, Cook J, Davidson R, Donaldson A, Dunning A, Eason J, Eccles D, Gregory H, Hanson H, Harrington P, Henderson A, Hodgson S, Kennedy M, Lalloo F, Miller C, Morrison P, Ong K, O’Shaughnessy-Kirwan A, Perkins J, Porteous M, Rogers M, Side L, Snape K, Walker L, Collée J, Couch F, Daly M, Dennis J, Dhawan M, Domchek S, Eeles R, Engel C, Evans D, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz P, Garber J, Gayther S, Gerdes A, Godwin A, Goldgar D, Hahnen E, Hake C, Hamann U, Hogervorst F, Hooning M, Hopper J, Hulick P, Imyanitov E, Investigators O, Glendon G, Mulligan A, Investigators H, van Asperen C, Aalfs C, Adank M, Ausems M, Blok M, Garcia E, Heemskerk-Gerritsen B, Hollestelle A, Jager A, Koppert L, Koudijs M, Kriege M, Meijers-Heijboer H, Mensenkamp A, Mooij T, Oosterwijk J, van den Ouweland A, van der Baan F, van der Hout A, van der Kolk L, van der Luijt R, van Deurzen C, van Doorn H, van Engelen K, van Hest L, van Os T, Verhoef S, Vogel M, Wijnen J, Investigators K, Beesley J, Fox S, Holland H, Phillips K, Spurdle A, Isaacs C, Izatt L, Jakubowska A, James P, Janavicius R, Jensen U, Jiao Y, John E, Joseph V, Karlan B, Kets C, Konstantopoulou I, Kwong A, Legrand C, Leslie G, Lesueur F, Loud J, Lubiński J, Manoukian S, McGuffog L, Miller A, Gomes D, Montagna M, Mouret-Fourme E, Nathanson K, Neuhausen S, Nevanlinna H, Yie J, Olah E, Olopade O, Park S, Parsons M, Peterlongo P, Piedmonte M, Radice P, Rantala J, Rennert G, Risch H, Schmutzler R, Sharma P, Simard J, Singer C, Stadler Z, Stoppa-Lyonnet D, Sutter C, Tan Y, Teixeira M, Teo S, Teulé A, Thomassen M, Thull D, Tischkowitz M, Toland A, Tung N, van Rensburg E, Vega A, Wappenschmidt B, Devilee P, Bernstein J, Offit K, Easton D, Rookus M, Chenevix-Trench G, Antoniou A, Robson M, Schmidt M. The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant. Genetics In Medicine 2021, 23: 1726-1737. PMID: 34113011, PMCID: PMC8460445, DOI: 10.1038/s41436-021-01198-7.Peer-Reviewed Original ResearchConceptsCBC riskHazard ratioFirst BCC-indexPolygenic risk scoresRisk scoreConfidence intervalsContralateral breast cancer riskBreast cancer polygenic risk scoreBRCA2 pathogenic variantsAge 40 yearsBreast cancer riskMultifactorial risk modelEuropean ancestryModifiers of BRCA1/2Breast cancer risk predictionCancer risk predictionConsortium of InvestigatorsRetrospective seriesInvasive BCPathological characteristicsFamily historyEstrogen receptorHeterozygous BRCA1Cancer risk
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