Медицинская библиотека · American journal of human genetics · 2018
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.
Mavaddat Nasim, Michailidou Kyriaki, Dennis Joe, Lush Michael, Fachal Laura, Lee Andrew, Tyrer Jonathan P, Chen Ting-Huei, Wang Qin, Bolla Manjeet K, Yang Xin, Adank Muriel A, Ahearn Thomas, Aittomäki Kristiina, Allen Jamie, Andrulis Irene L, Anton-Culver Hoda, Antonenkova Natalia N, Arndt Volker, Aronson Kristan J, Auer Paul L, Auvinen Päivi, Barrdahl Myrto, Beane Freeman Laura E, Beckmann Matthias W, Behrens Sabine, Benitez Javier, Bermisheva Marina, Bernstein Leslie, Blomqvist Carl, Bogdanova Natalia V, Bojesen Stig E, Bonanni Bernardo, Børresen-Dale Anne-Lise, Brauch Hiltrud, Bremer Michael, Brenner Hermann, Brentnall Adam, Brock Ian W, Brooks-Wilson Angela, Brucker Sara Y, Brüning Thomas, Burwinkel Barbara, Campa Daniele, Carter Brian D, Castelao Jose E, Chanock Stephen J, Chlebowski Rowan, Christiansen Hans, Clarke Christine L, Collée J Margriet, Cordina-Duverger Emilie, Cornelissen Sten, Couch Fergus J, Cox Angela, Cross Simon S, Czene Kamila, Daly Mary B, Devilee Peter, Dörk Thilo, Dos-Santos-Silva Isabel, Dumont Martine, Durcan Lorraine, Dwek Miriam, Eccles Diana M, Ekici Arif B, Eliassen A Heather, Ellberg Carolina, Engel Christoph, Eriksson Mikael, Evans D Gareth, Fasching Peter A, Figueroa Jonine, Fletcher Olivia, Flyger Henrik, Försti Asta, Fritschi Lin, Gabrielson Marike, Gago-Dominguez Manuela, Gapstur Susan M, García-Sáenz José A, Gaudet Mia M, Georgoulias Vassilios, Giles Graham G, Gilyazova Irina R, Glendon Gord, Goldberg Mark S, Goldgar David E, González-Neira Anna, Grenaker Alnæs Grethe I, Grip Mervi, Gronwald Jacek, Grundy Anne, Guénel Pascal, Haeberle Lothar, Hahnen Eric, Haiman Christopher A, Håkansson Niclas, Hamann Ute, Hankinson Susan E, Harkness Elaine F, Hart Steven N, He Wei, Hein Alexander, Heyworth Jane, Hillemanns Peter, Hollestelle Antoinette, Hooning Maartje J, Hoover Robert N, Hopper John L, Howell Anthony, Huang Guanmengqian, Humphreys Keith, Hunter David J, Jakimovska Milena, Jakubowska Anna, Janni Wolfgang, John Esther M, Johnson Nichola, Jones Michael E, Jukkola-Vuorinen Arja, Jung Audrey, Kaaks Rudolf, Kaczmarek Katarzyna, Kataja Vesa, Keeman Renske, Kerin Michael J, Khusnutdinova Elza, Kiiski Johanna I, Knight Julia A, Ko Yon-Dschun, Kosma Veli-Matti, Koutros Stella, Kristensen Vessela N, Krüger Ute, Kühl Tabea, Lambrechts Diether, Le Marchand Loic, Lee Eunjung, Lejbkowicz Flavio, Lilyquist Jenna, Lindblom Annika, Lindström Sara, Lissowska Jolanta, Lo Wing-Yee, Loibl Sibylle, Long Jirong, Lubiński Jan, Lux Michael P, MacInnis Robert J, Maishman Tom, Makalic Enes, Maleva Kostovska Ivana, Mannermaa Arto, Manoukian Siranoush, Margolin Sara, Martens John W M, Martinez Maria Elena, Mavroudis Dimitrios, McLean Catriona, Meindl Alfons, Menon Usha, Middha Pooja, Miller Nicola, Moreno Fernando, Mulligan Anna Marie, Mulot Claire, Muñoz-Garzon Victor M, Neuhausen Susan L, Nevanlinna Heli, Neven Patrick, Newman William G, Nielsen Sune F, Nordestgaard Børge G, Norman Aaron, Offit Kenneth, Olson Janet E, Olsson Håkan, Orr Nick, Pankratz V Shane, Park-Simon Tjoung-Won, Perez Jose I A, Pérez-Barrios Clara, Peterlongo Paolo, Peto Julian, Pinchev Mila, Plaseska-Karanfilska Dijana, Polley Eric C, Prentice Ross, Presneau Nadege, Prokofyeva Darya, Purrington Kristen, Pylkäs Katri, Rack Brigitte, Radice Paolo, Rau-Murthy Rohini, Rennert Gad, Rennert Hedy S, Rhenius Valerie, Robson Mark, Romero Atocha, Ruddy Kathryn J, Ruebner Matthias, Saloustros Emmanouil, Sandler Dale P, Sawyer Elinor J, Schmidt Daniel F, Schmutzler Rita K, Schneeweiss Andreas, Schoemaker Minouk J, Schumacher Fredrick, Schürmann Peter, Schwentner Lukas, Scott Christopher, Scott Rodney J, Seynaeve Caroline, Shah Mitul, Sherman Mark E, Shrubsole Martha J, Shu Xiao-Ou, Slager Susan, Smeets Ann, Sohn Christof, Soucy Penny, Southey Melissa C, Spinelli John J, Stegmaier Christa, Stone Jennifer, Swerdlow Anthony J, Tamimi Rulla M, Tapper William J, Taylor Jack A, Terry Mary Beth, Thöne Kathrin, Tollenaar Rob A E M, Tomlinson Ian, Truong Thérèse, Tzardi Maria, Ulmer Hans-Ulrich, Untch Michael, Vachon Celine M, van Veen Elke M, Vijai Joseph, Weinberg Clarice R, Wendt Camilla, Whittemore Alice S, Wildiers Hans, Willett Walter, Winqvist Robert, Wolk Alicja, Yang Xiaohong R, Yannoukakos Drakoulis, Zhang Yan, Zheng Wei, Ziogas Argyrios, ABCTB Investigators, kConFab/AOCS Investigators, NBCS Collaborators, Dunning Alison M, Thompson Deborah J, Chenevix-Trench Georgia, Chang-Claude Jenny, Schmidt Marjanka K, Hall Per, Milne Roger L, Pharoah Paul D P, Antoniou Antonis C, Chatterjee Nilanjan, Kraft Peter, García-Closas Montserrat, Simard Jacques, Easton Douglas F
СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАПеревод в очереди
Аннотация
Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to empirically validate the PRSs in prospective studies. The development dataset comprised 94,075 case subjects and 75,017 control subjects of European ancestry from 69 studies, divided into training and validation sets. Samples were genotyped using genome-wide arrays, and single-nucleotide polymorphisms (SNPs) were selected by stepwise regression or lasso penalized regression. The best performing PRSs were validated in an independent test set comprising 11,428 case subjects and 18,323 control subjects from 10 prospective studies and 190,040 women from UK Biobank (3,215 incident breast cancers). For the best PRSs (313 SNPs), the odds ratio for overall disease per 1 standard deviation in ten prospective studies was 1.61 (95%CI: 1.57-1.65) with area under receiver-operator curve (AUC) = 0.630 (95%CI: 0.628-0.651). The lifetime risk of overall breast cancer in the top centile of the PRSs was 32.6%. Compared with women in the middle quintile, those in the highest 1% of risk had 4.37- and 2.78-fold risks, and those in the lowest 1% of risk had 0.16- and 0.27-fold risks, of developing ER-positive and ER-negative disease, respectively. Goodness-of-fit tests indicated that this PRS was well calibrated and predicts disease risk accurately in the tails of the distribution. This PRS is a powerful and reliable predictor of breast cancer risk that may improve breast cancer prevention programs.
Для цитирования: Mavaddat Nasim, Michailidou Kyriaki, Dennis Joe, Lush Michael, Fachal Laura, Lee Andrew, Tyrer Jonathan P, Chen Ting-Huei, Wang Qin, Bolla Manjeet K, Yang Xin, Adank Muriel A, Ahearn Thomas, Aittomäki Kristiina, Allen Jamie, Andrulis Irene L, Anton-Culver Hoda, Antonenkova Natalia N, Arndt Volker, Aronson Kristan J, Auer Paul L, Auvinen Päivi, Barrdahl Myrto, Beane Freeman Laura E, Beckmann Matthias W, Behrens Sabine, Benitez Javier, Bermisheva Marina, Bernstein Leslie, Blomqvist Carl, Bogdanova Natalia V, Bojesen Stig E, Bonanni Bernardo, Børresen-Dale Anne-Lise, Brauch Hiltrud, Bremer Michael, Brenner Hermann, Brentnall Adam, Brock Ian W, Brooks-Wilson Angela, Brucker Sara Y, Brüning Thomas, Burwinkel Barbara, Campa Daniele, Carter Brian D, Castelao Jose E, Chanock Stephen J, Chlebowski Rowan, Christiansen Hans, Clarke Christine L, Collée J Margriet, Cordina-Duverger Emilie, Cornelissen Sten, Couch Fergus J, Cox Angela, Cross Simon S, Czene Kamila, Daly Mary B, Devilee Peter, Dörk Thilo, Dos-Santos-Silva Isabel, Dumont Martine, Durcan Lorraine, Dwek Miriam, Eccles Diana M, Ekici Arif B, Eliassen A Heather, Ellberg Carolina, Engel Christoph, Eriksson Mikael, Evans D Gareth, Fasching Peter A, Figueroa Jonine, Fletcher Olivia, Flyger Henrik, Försti Asta, Fritschi Lin, Gabrielson Marike, Gago-Dominguez Manuela, Gapstur Susan M, García-Sáenz José A, Gaudet Mia M, Georgoulias Vassilios, Giles Graham G, Gilyazova Irina R, Glendon Gord, Goldberg Mark S, Goldgar David E, González-Neira Anna, Grenaker Alnæs Grethe I, Grip Mervi, Gronwald Jacek, Grundy Anne, Guénel Pascal, Haeberle Lothar, Hahnen Eric, Haiman Christopher A, Håkansson Niclas, Hamann Ute, Hankinson Susan E, Harkness Elaine F, Hart Steven N, He Wei, Hein Alexander, Heyworth Jane, Hillemanns Peter, Hollestelle Antoinette, Hooning Maartje J, Hoover Robert N, Hopper John L, Howell Anthony, Huang Guanmengqian, Humphreys Keith, Hunter David J, Jakimovska Milena, Jakubowska Anna, Janni Wolfgang, John Esther M, Johnson Nichola, Jones Michael E, Jukkola-Vuorinen Arja, Jung Audrey, Kaaks Rudolf, Kaczmarek Katarzyna, Kataja Vesa, Keeman Renske, Kerin Michael J, Khusnutdinova Elza, Kiiski Johanna I, Knight Julia A, Ko Yon-Dschun, Kosma Veli-Matti, Koutros Stella, Kristensen Vessela N, Krüger Ute, Kühl Tabea, Lambrechts Diether, Le Marchand Loic, Lee Eunjung, Lejbkowicz Flavio, Lilyquist Jenna, Lindblom Annika, Lindström Sara, Lissowska Jolanta, Lo Wing-Yee, Loibl Sibylle, Long Jirong, Lubiński Jan, Lux Michael P, MacInnis Robert J, Maishman Tom, Makalic Enes, Maleva Kostovska Ivana, Mannermaa Arto, Manoukian Siranoush, Margolin Sara, Martens John W M, Martinez Maria Elena, Mavroudis Dimitrios, McLean Catriona, Meindl Alfons, Menon Usha, Middha Pooja, Miller Nicola, Moreno Fernando, Mulligan Anna Marie, Mulot Claire, Muñoz-Garzon Victor M, Neuhausen Susan L, Nevanlinna Heli, Neven Patrick, Newman William G, Nielsen Sune F, Nordestgaard Børge G, Norman Aaron, Offit Kenneth, Olson Janet E, Olsson Håkan, Orr Nick, Pankratz V Shane, Park-Simon Tjoung-Won, Perez Jose I A, Pérez-Barrios Clara, Peterlongo Paolo, Peto Julian, Pinchev Mila, Plaseska-Karanfilska Dijana, Polley Eric C, Prentice Ross, Presneau Nadege, Prokofyeva Darya, Purrington Kristen, Pylkäs Katri, Rack Brigitte, Radice Paolo, Rau-Murthy Rohini, Rennert Gad, Rennert Hedy S, Rhenius Valerie, Robson Mark, Romero Atocha, Ruddy Kathryn J, Ruebner Matthias, Saloustros Emmanouil, Sandler Dale P, Sawyer Elinor J, Schmidt Daniel F, Schmutzler Rita K, Schneeweiss Andreas, Schoemaker Minouk J, Schumacher Fredrick, Schürmann Peter, Schwentner Lukas, Scott Christopher, Scott Rodney J, Seynaeve Caroline, Shah Mitul, Sherman Mark E, Shrubsole Martha J, Shu Xiao-Ou, Slager Susan, Smeets Ann, Sohn Christof, Soucy Penny, Southey Melissa C, Spinelli John J, Stegmaier Christa, Stone Jennifer, Swerdlow Anthony J, Tamimi Rulla M, Tapper William J, Taylor Jack A, Terry Mary Beth, Thöne Kathrin, Tollenaar Rob A E M, Tomlinson Ian, Truong Thérèse, Tzardi Maria, Ulmer Hans-Ulrich, Untch Michael, Vachon Celine M, van Veen Elke M, Vijai Joseph, Weinberg Clarice R, Wendt Camilla, Whittemore Alice S, Wildiers Hans, Willett Walter, Winqvist Robert, Wolk Alicja, Yang Xiaohong R, Yannoukakos Drakoulis, Zhang Yan, Zheng Wei, Ziogas Argyrios, ABCTB Investigators, kConFab/AOCS Investigators, NBCS Collaborators, Dunning Alison M, Thompson Deborah J, Chenevix-Trench Georgia, Chang-Claude Jenny, Schmidt Marjanka K, Hall Per, Milne Roger L, Pharoah Paul D P, Antoniou Antonis C, Chatterjee Nilanjan, Kraft Peter, García-Closas Montserrat, Simard Jacques, Easton Douglas F. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.. American journal of human genetics. 2018. DOI: 10.1016/j.ajhg.2018.11.002.
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