41 results on '"Antoniou, Antonis C"'
Search Results
2. Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants – an Asian study of 572 families
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Ho, Weang-Kee, primary, Hassan, Nur Tiara, additional, Yoon, Sook-Yee, additional, Yang, Xin, additional, Lim, Joanna M.C., additional, Binte Ishak, Nur Diana, additional, Ho, Peh Joo, additional, Wijaya, Eldarina A., additional, Ng, Patsy Pei-Sze, additional, Luccarini, Craig, additional, Allen, Jamie, additional, Tai, Mei-Chee, additional, Chiang, Jianbang, additional, Zhang, Zewen, additional, See, Mee-Hoong, additional, Thong, Meow-Keong, additional, Woo, Yin-Ling, additional, Dunning, Alison M., additional, Hartman, Mikael, additional, Yip, Cheng-Har, additional, Mohd Taib, Nur Aishah, additional, Easton, Douglas F., additional, Li, Jingmei, additional, Ngeow, Joanne, additional, Antoniou, Antonis C., additional, Teo, Soo-Hwang, additional, Kiat-Tee Tan, Benita, additional, Tan, Su-Ming, additional, Mien Tan, Veronique Kiak, additional, Tan, Ern Yu, additional, Lim, Geok Hoon, additional, Khng, Alexis, additional, Ch’ng, Gaik-Siew, additional, Omar, Jamil, additional, Yong, Chee-Meng, additional, Aliyas, Ismail, additional, Malik, Rozita Abdul, additional, Subramaniam, Suguna, additional, Sim, Wee-Wee, additional, Lim, Chun Sen, additional, Lee, Saw-Joo, additional, Lim, Keng-Joo, additional, Shafiee, Mohamad Nasir, additional, Ismail, Fuad Ismail, additional, Ismail, Mohd Pazudin, additional, Mohamed Jamli, Mohamad Faiz, additional, Kumarasamy, Suresh, additional, Low, John S.H., additional, Ahmad Mustafa, Ahmad Muzamir, additional, Makanjang, Mary J., additional, Taib, Shahila, additional, Cheah, Nellie, additional, Fong, Chee-Kin, additional, Ho, Kean-Fatt, additional, Deniel, Azura, additional, Ang, Soo Fan, additional, Ahmad Badruddin, Ahmad Radzi, additional, and Tho, Lye-Mun, additional
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- 2024
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3. Long-term outcomes of hysterectomy with bilateral salpingo-oophorectomy: a systematic review and meta-analysis
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Hassan, Hend, primary, Allen, Isaac, additional, Sofianopoulou, Eleni, additional, Walburga, Yvonne, additional, Turnbull, Clare, additional, Eccles, Diana M., additional, Tischkowitz, Marc, additional, Pharoah, Paul, additional, and Antoniou, Antonis C., additional
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- 2024
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4. Segregation analysis of 17,425 population-based breast cancer families: Evidence for genetic susceptibility and risk prediction
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Li, Shuai, primary, MacInnis, Robert J., additional, Lee, Andrew, additional, Nguyen-Dumont, Tu, additional, Dorling, Leila, additional, Carvalho, Sara, additional, Dite, Gillian S., additional, Shah, Mitul, additional, Luccarini, Craig, additional, Wang, Qin, additional, Milne, Roger L., additional, Jenkins, Mark A., additional, Giles, Graham G., additional, Dunning, Alison M., additional, Pharoah, Paul D.P., additional, Southey, Melissa C., additional, Easton, Douglas F., additional, Hopper, John L., additional, and Antoniou, Antonis C., additional
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- 2022
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5. Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants
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Li, Hongyan, primary, Engel, Christoph, additional, Hoya, Miguel de la, additional, Peterlongo, Paolo, additional, Yannoukakos, Drakoulis, additional, Livraghi, Luca, additional, Radice, Paolo, additional, Thomassen, Mads, additional, Hansen, Thomas V.O., additional, Gerdes, Anne-Marie, additional, Nielsen, Henriette R., additional, Caputo, Sandrine M., additional, Zambelli, Alberto, additional, Borg, Ake, additional, Solano, Angela, additional, Thomas, Abigail, additional, Parsons, Michael T., additional, Antoniou, Antonis C., additional, Leslie, Goska, additional, Yang, Xin, additional, Chenevix-Trench, Georgia, additional, Caldes, Trinidad, additional, Kwong, Ava, additional, Pedersen, Inge Søkilde, additional, Lautrup, Charlotte K., additional, John, Esther M., additional, Terry, Mary Beth, additional, Hopper, John L., additional, Southey, Melissa C., additional, Andrulis, Irene L., additional, Tischkowitz, Marc, additional, Janavicius, Ramunas, additional, Boonen, Susanne E., additional, Kroeldrup, Lone, additional, Varesco, Liliana, additional, Hamann, Ute, additional, Vega, Ana, additional, Palmero, Edenir I., additional, Garber, Judy, additional, Montagna, Marco, additional, Van Asperen, Christi J., additional, Foretova, Lenka, additional, Greene, Mark H., additional, Selkirk, Tina, additional, Moller, Pal, additional, Toland, Amanda E., additional, Domchek, Susan M., additional, James, Paul A., additional, Thorne, Heather, additional, Eccles, Diana M., additional, Nielsen, Sarah M., additional, Manoukian, Siranoush, additional, Pasini, Barbara, additional, Caligo, Maria A., additional, Lazaro, Conxi, additional, Kirk, Judy, additional, Wappenschmidt, Barbara, additional, Spurdle, Amanda B., additional, Couch, Fergus J., additional, Schmutzler, Rita, additional, and Goldgar, David E., additional
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- 2022
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6. Towards implementation of comprehensive breast cancer risk prediction tools in health care for personalised prevention
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Moorthie, Sowmiya, primary, Babb de Villiers, Chantal, additional, Burton, Hilary, additional, Kroese, Mark, additional, Antoniou, Antonis C., additional, Bhattacharjee, Proteeti, additional, Garcia-Closas, Montserrat, additional, Hall, Per, additional, and Schmidt, Marjanka K., additional
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- 2022
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7. Polygenic risk scores for prediction of breast cancer risk in Asian populations
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Ho, Weang-Kee, primary, Tai, Mei-Chee, additional, Dennis, Joe, additional, Shu, Xiang, additional, Li, Jingmei, additional, Ho, Peh Joo, additional, Millwood, Iona Y., additional, Lin, Kuang, additional, Jee, Yon-Ho, additional, Lee, Su-Hyun, additional, Mavaddat, Nasim, additional, Bolla, Manjeet K., additional, Wang, Qin, additional, Michailidou, Kyriaki, additional, Long, Jirong, additional, Wijaya, Eldarina Azfar, additional, Hassan, Tiara, additional, Rahmat, Kartini, additional, Tan, Veronique Kiak Mien, additional, Tan, Benita Kiat Tee, additional, Tan, Su Ming, additional, Tan, Ern Yu, additional, Lim, Swee Ho, additional, Gao, Yu-Tang, additional, Zheng, Ying, additional, Kang, Daehee, additional, Choi, Ji-Yeob, additional, Han, Wonshik, additional, Lee, Han-Byoel, additional, Kubo, Michiki, additional, Okada, Yukinori, additional, Namba, Shinichi, additional, Park, Sue K., additional, Kim, Sung-Won, additional, Shen, Chen-Yang, additional, Wu, Pei-Ei, additional, Park, Boyoung, additional, Muir, Kenneth R., additional, Lophatananon, Artitaya, additional, Wu, Anna H., additional, Tseng, Chiu-Chen, additional, Matsuo, Keitaro, additional, Ito, Hidemi, additional, Kwong, Ava, additional, Chan, Tsun L., additional, John, Esther M., additional, Kurian, Allison W., additional, Iwasaki, Motoki, additional, Yamaji, Taiki, additional, Kweon, Sun-Seog, additional, Aronson, Kristan J., additional, Murphy, Rachel A., additional, Koh, Woon-Puay, additional, Khor, Chiea-Chuen, additional, Yuan, Jian-Min, additional, Dorajoo, Rajkumar, additional, Walters, Robin G., additional, Chen, Zhengming, additional, Li, Liming, additional, Lv, Jun, additional, Jung, Keum-Ji, additional, Kraft, Peter, additional, Pharoah, Paul D.B., additional, Dunning, Alison M., additional, Simard, Jacques, additional, Shu, Xiao-Ou, additional, Yip, Cheng-Har, additional, Taib, Nur Aishah Mohd, additional, Antoniou, Antonis C., additional, Zheng, Wei, additional, Hartman, Mikael, additional, Easton, Douglas F., additional, and Teo, Soo-Hwang, additional
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- 2022
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8. Validation of the BOADICEA Multifactorial Breast Cancer Risk Prediction Model in a Large Prospective Study
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Yang, Xin, primary, Eriksson, Mikael, additional, Czene, Kamila, additional, Lee, Andrew, additional, Leslie, Goska, additional, Luch, Michael, additional, Wang, Jean, additional, Dennis, Joe, additional, Dorling, Leila, additional, Carvalho, Sara, additional, Mavaddat, Nasim, additional, Simard, Jacques, additional, Schmidt, Marjanka K., additional, Easton, Douglas F., additional, Hall, Per, additional, and Antoniou, Antonis C., additional
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- 2022
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9. Polygenic risk scores for prediction of breast cancer risk in Asian populations
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Ho, Weang-Kee, Tai, Mei-Chee, Dennis, Joe, Shu, Xiang, Li, Jingmei, Ho, Peh Joo, Millwood, Iona Y, Lin, Kuang, Jee, Yon-Ho, Lee, Su-Hyun, Mavaddat, Nasim, Bolla, Manjeet K, Wang, Qin, Michailidou, Kyriaki, Long, Jirong, Wijaya, Eldarina Azfar, Hassan, Tiara, Rahmat, Kartini, Tan, Veronique Kiak Mien, Tan, Benita Kiat Tee, Tan, Su Ming, Tan, Ern Yu, Lim, Swee Ho, Gao, Yu-Tang, Zheng, Ying, Kang, Daehee, Choi, Ji-Yeob, Han, Wonshik, Lee, Han-Byoel, Kubo, Michiki, Okada, Yukinori, Namba, Shinichi, BioBank Japan Project, Park, Sue K, Kim, Sung-Won, Shen, Chen-Yang, Wu, Pei-Ei, Park, Boyoung, Muir, Kenneth R, Lophatananon, Artitaya, Wu, Anna H, Tseng, Chiu-Chen, Matsuo, Keitaro, Ito, Hidemi, Kwong, Ava, Chan, Tsun L, John, Esther M, Kurian, Allison W, Iwasaki, Motoki, Yamaji, Taiki, Kweon, Sun-Seog, Aronson, Kristan J, Murphy, Rachel A, Koh, Woon-Puay, Khor, Chiea-Chuen, Yuan, Jian-Min, Dorajoo, Rajkumar, Walters, Robin G, Chen, Zhengming, Li, Liming, Lv, Jun, Jung, Keum-Ji, Kraft, Peter, Pharoah, Paul DB, Dunning, Alison M, Simard, Jacques, Shu, Xiao-Ou, Yip, Cheng-Har, Taib, Nur Aishah Mohd, Antoniou, Antonis C, Zheng, Wei, Hartman, Mikael, Easton, Douglas F, Teo, Soo-Hwang, Dennis, Joe [0000-0003-4591-1214], Mavaddat, Nasim [0000-0003-0307-055X], Pharoah, Paul [0000-0001-8494-732X], Antoniou, Antonis [0000-0001-9223-3116], Easton, Douglas [0000-0003-2444-3247], and Apollo - University of Cambridge Repository
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Multifactorial Inheritance ,Bayes Theorem ,Breast Neoplasms ,Polymorphism, Single Nucleotide ,Risk prediction ,Breast cancer ,Genetic ,Polygenic risk score ,Risk Factors ,Humans ,Female ,Genetic Predisposition to Disease ,Prospective Studies ,Genome-Wide Association Study - Abstract
PURPOSE: Non-European populations are under-represented in genetics studies, hindering clinical implementation of breast cancer polygenic risk scores (PRSs). We aimed to develop PRSs using the largest available studies of Asian ancestry and to assess the transferability of PRS across ethnic subgroups. METHODS: The development data set comprised 138,309 women from 17 case-control studies. PRSs were generated using a clumping and thresholding method, lasso penalized regression, an Empirical Bayes approach, a Bayesian polygenic prediction approach, or linear combinations of multiple PRSs. These PRSs were evaluated in 89,898 women from 3 prospective studies (1592 incident cases). RESULTS: The best performing PRS (genome-wide set of single-nucleotide variations [formerly single-nucleotide polymorphism]) had a hazard ratio per unit SD of 1.62 (95% CI = 1.46-1.80) and an area under the receiver operating curve of 0.635 (95% CI = 0.622-0.649). Combined Asian and European PRSs (333 single-nucleotide variations) had a hazard ratio per SD of 1.53 (95% CI = 1.37-1.71) and an area under the receiver operating curve of 0.621 (95% CI = 0.608-0.635). The distribution of the latter PRS was different across ethnic subgroups, confirming the importance of population-specific calibration for valid estimation of breast cancer risk. CONCLUSION: PRSs developed in this study, from association data from multiple ancestries, can enhance risk stratification for women of Asian ancestry.
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- 2021
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10. Potential of polygenic risk scores for improving population estimates of women’s breast cancer genetic risks
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Wolfson, Michael, primary, Gribble, Steve, additional, Pashayan, Nora, additional, Easton, Douglas F., additional, Antoniou, Antonis C., additional, Lee, Andrew, additional, van Katwyk, Sasha, additional, and Simard, Jacques, additional
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- 2021
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11. 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
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Lakeman, Inge M.M., primary, van den Broek, Alexandra J., additional, Vos, Juliën A.M., additional, Barnes, Daniel R., additional, Adlard, Julian, additional, Andrulis, Irene L., additional, Arason, Adalgeir, additional, Arnold, Norbert, additional, Arun, Banu K., additional, Balmaña, Judith, additional, Barrowdale, Daniel, additional, Benitez, Javier, additional, Borg, Ake, additional, Caldés, Trinidad, additional, Caligo, Maria A., additional, Chung, Wendy K., additional, Claes, Kathleen B.M., additional, Barouk-Simonet, Emmanuelle, additional, Belotti, Muriel, additional, Berthet, Pascaline, additional, Bignon, Yves-Jean, additional, Bonadona, Valérie, additional, Bressac-de Paillerets, Brigitte, additional, Buecher, Bruno, additional, Caputo, Sandrine, additional, Caron, Olivier, additional, Castera, Laurent, additional, Caux-Moncoutier, Virginie, additional, Colas, Chrystelle, additional, Collonge-Rame, Marie-Agnès, additional, Coupier, Isabelle, additional, de Pauw, Antoine, additional, Delnatte, Capucine, additional, Elan, Camille, additional, Faivre, Laurence, additional, Ferrer, Sandra Fert, additional, Gauthier-Villars, Marion, additional, Gesta, Paul, additional, Giraud, Sophie, additional, Golmard, Lisa, additional, Houdayer, Claude, additional, Lasset, Christine, additional, Laurent, Maïté, additional, Leroux, Dominique, additional, Longy, Michel, additional, Mari, Véronique, additional, Mazoyer, Sylvie, additional, Mebirouk, Noura, additional, Mortemousque, Isabelle, additional, Prieur, Fabienne, additional, Pujol, Pascal, additional, Saule, Claire, additional, Schuster, Helene, additional, Sevenet, Nicolas, additional, Sobol, Hagay, additional, Sokolowska, Johanna, additional, Venat-Bouvet, Laurence, additional, Ahmed, Munaza, additional, Barwell, Julian, additional, Brady, Angela, additional, Brennan, Paul, additional, Brewer, Carole, additional, Cook, Jackie, additional, Davidson, Rosemarie, additional, Donaldson, Alan, additional, Dunning, Alison M., additional, Eason, Jacqueline, additional, Eccles, Diana M., additional, Gregory, Helen, additional, Hanson, Helen, additional, Harrington, Patricia A., additional, Henderson, Alex, additional, Hodgson, Shirley, additional, Kennedy, M. John, additional, Lalloo, Fiona, additional, Miller, Clare, additional, Morrison, Patrick J., additional, Ong, Kai-ren, additional, O’Shaughnessy-Kirwan, Aoife, additional, Perkins, Jo, additional, Porteous, Mary E., additional, Rogers, Mark T., additional, Side, Lucy E., additional, Snape, Katie, additional, Walker, Lisa, additional, Collée, J. Margriet, additional, Couch, Fergus J., additional, Daly, Mary B., additional, Dennis, Joe, additional, Dhawan, Mallika, additional, Domchek, Susan M., additional, Eeles, Ros, additional, Engel, Christoph, additional, Evans, D. Gareth, additional, Feliubadaló, Lidia, additional, Foretova, Lenka, additional, Friedman, Eitan, additional, Frost, Debra, additional, Ganz, Patricia A., additional, Garber, Judy, additional, Gayther, Simon A., additional, Gerdes, Anne-Marie, additional, Godwin, Andrew K., additional, Goldgar, David E., additional, Hahnen, Eric, additional, Hake, Christopher R., additional, Hamann, Ute, additional, Hogervorst, Frans B.L., additional, Hooning, Maartje J., additional, Hopper, John L., additional, Hulick, Peter J., additional, Imyanitov, Evgeny N., additional, Glendon, Gord, additional, Mulligan, Anna Marie, additional, van Asperen, Christi J., additional, Aalfs, Cora M., additional, Adank, Muriel A., additional, Ausems, Margreet G.E.M., additional, Blok, Marinus J., additional, Gómez Garcia, Encarna B., additional, Heemskerk-Gerritsen, Bernadette A.M., additional, Hollestelle, Antoinette, additional, Jager, Agnes, additional, Koppert, Linetta B., additional, Koudijs, Marco, additional, Kriege, Mieke, additional, Meijers-Heijboer, Hanne E.J., additional, Mensenkamp, Arjen R., additional, Mooij, Thea M., additional, Oosterwijk, Jan C., additional, van den Ouweland, Ans M.W., additional, van der Baan, Frederieke H., additional, van der Hout, Annemieke H., additional, van der Kolk, Lizet E., additional, van der Luijt, Rob B., additional, van Deurzen, Carolien H.M., additional, van Doorn, Helena C., additional, van Engelen, Klaartje, additional, van Hest, Liselotte P., additional, van Os, Theo A.M., additional, Verhoef, Senno, additional, Vogel, Maartje J., additional, Wijnen, Juul T., additional, Beesley, Jonathan, additional, Fox, Stephen, additional, Holland, Helene, additional, Phillips, Kelly-Anne, additional, Spurdle, Amanda B., additional, Isaacs, Claudine, additional, Izatt, Louise, additional, Jakubowska, Anna, additional, James, Paul A., additional, Janavicius, Ramunas, additional, Jensen, Uffe Birk, additional, Jiao, Yue, additional, John, Esther M., additional, Joseph, Vijai, additional, Karlan, Beth Y., additional, Kets, Carolien M., additional, Konstantopoulou, Irene, additional, Kwong, Ava, additional, Legrand, Clémentine, additional, Leslie, Goska, additional, Lesueur, Fabienne, additional, Loud, Jennifer T., additional, Lubiński, Jan, additional, Manoukian, Siranoush, additional, McGuffog, Lesley, additional, Miller, Austin, additional, Gomes, Denise Molina, additional, Montagna, Marco, additional, Mouret-Fourme, Emmanuelle, additional, Nathanson, Katherine L., additional, Neuhausen, Susan L., additional, Nevanlinna, Heli, additional, Yie, Joanne Ngeow Yuen, additional, Olah, Edith, additional, Olopade, Olufunmilayo I., additional, Park, Sue K., additional, Parsons, Michael T., additional, Peterlongo, Paolo, additional, Piedmonte, Marion, additional, Radice, Paolo, additional, Rantala, Johanna, additional, Rennert, Gad, additional, Risch, Harvey A., additional, Schmutzler, Rita K., additional, Sharma, Priyanka, additional, Simard, Jacques, additional, Singer, Christian F., additional, Stadler, Zsofia, additional, Stoppa-Lyonnet, Dominique, additional, Sutter, Christian, additional, Tan, Yen Yen, additional, Teixeira, Manuel R., additional, Teo, Soo Hwang, additional, Teulé, Alex, additional, Thomassen, Mads, additional, Thull, Darcy L., additional, Tischkowitz, Marc, additional, Toland, Amanda E., additional, Tung, Nadine, additional, van Rensburg, Elizabeth J., additional, Vega, Ana, additional, Wappenschmidt, Barbara, additional, Devilee, Peter, additional, Bernstein, Jonine L., additional, Offit, Kenneth, additional, Easton, Douglas F., additional, Rookus, Matti A., additional, Chenevix-Trench, Georgia, additional, Antoniou, Antonis C., additional, Robson, Mark, additional, and Schmidt, Marjanka K., additional
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- 2021
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12. Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study
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Schrijver, Lieske H., primary, Antoniou, Antonis C., additional, Olsson, Håkan, additional, Mooij, Thea M., additional, Roos-Blom, Marie-José, additional, Azarang, Leyla, additional, Adlard, Julian, additional, Ahmed, Munaza, additional, Barrowdale, Daniel, additional, Davidson, Rosemarie, additional, Donaldson, Alan, additional, Eeles, Ros, additional, Evans, D. Gareth, additional, Frost, Debra, additional, Henderson, Alex, additional, Izatt, Louise, additional, Ong, Kai-Ren, additional, Bonadona, Valérie, additional, Coupier, Isabelle, additional, Faivre, Laurence, additional, Fricker, Jean-Pierre, additional, Gesta, Paul, additional, van Engelen, Klaartje, additional, Jager, Agnes, additional, Menko, Fred H., additional, Mourits, Marian J.E., additional, Singer, Christian F., additional, Tan, Yen Y., additional, Foretova, Lenka, additional, Navratilova, Marie, additional, Schmutzler, Rita K., additional, Ellberg, Carolina, additional, Gerdes, Anne-Marie, additional, Caldes, Trinidad, additional, Simard, Jacques, additional, Olah, Edith, additional, Jakubowska, Anna, additional, Rantala, Johanna, additional, Osorio, Ana, additional, Hopper, John L., additional, Phillips, Kelly-Anne, additional, Milne, Roger L., additional, Beth Terry, Mary, additional, Noguès, Catherine, additional, Engel, Christoph, additional, Kast, Karin, additional, Goldgar, David E., additional, van Leeuwen, Flora E., additional, Easton, Douglas F., additional, Andrieu, Nadine, additional, Rookus, Matti A., additional, Laborde, Lilian, additional, Pontois, Pauline, additional, Breysse, Emanuelle, additional, Berline, Margot, additional, Stoppa-Lyonnet, Dominique, additional, Gauthier-Villars, Marion, additional, Buecher, Bruno, additional, Colas, Chrystelle, additional, Caron, Olivier, additional, Mouret-Fourme, Emmanuelle, additional, Saule, Claire, additional, Lasset, Christine, additional, Dussard, Sophie, additional, Berthet, Pascaline, additional, Luporsi, Elisabeth, additional, Mari, Véronique, additional, Gladieff, Laurence, additional, Chieze-Valéro, Stéphanie, additional, Moretta, Jessica, additional, Sobol, Hagay, additional, Eisinger, François, additional, Popovici, Cornel, additional, Longy, Michel, additional, Grivelli, Louise, additional, Soubrier, Florent, additional, Benusiglio, Patrick, additional, Pujol, Pascal, additional, Corsini, Carole, additional, Morin-Meschin, Marie-Emmanuelle, additional, Lortholary, Alain, additional, Adenis, Claude, additional, Maillez, Audrey, additional, Nguyen, Tan Dat, additional, Delnatte, Capucine, additional, Abadie, Caroline, additional, Tinat, Julie, additional, Tennevet, Isabelle, additional, Maugard, Christine, additional, Bignon, Yves-Jean, additional, Gay Bellile, Mathilde, additional, Penet, Clotilde, additional, Dreyfus, Hélène, additional, Cohen-Haguenauer, Odile, additional, Gilbert, Brigitte, additional, Venat-Bouvet, Laurence, additional, Leroux, Dominique, additional, Legrand, Clémentine, additional, Zattara-Cannoni, Hélène, additional, Layet, Valérie, additional, Lacaze, Elodie, additional, Fert-Ferrer, Sandra, additional, Bera, Odile, additional, Gilbert-Dussardier, Brigitte, additional, Tougeron, David, additional, Lallaoui, Hakima, additional, Rookus, M.A., additional, Hogervorst, F.B.L., additional, van Leeuwen, F.E., additional, Adank, M.A., additional, Schmidt, M.K., additional, Jenner, D.J., additional, Collée, J.M., additional, van den Ouweland, A.M.W., additional, Hooning, M.J., additional, Boere, I.A., additional, van Asperen, C.J., additional, Devilee, P., additional, van der Luijt, R.B., additional, van Cronenburg, T.C.T.E.F., additional, Wevers, M.R., additional, Mensenkamp, A.R., additional, Ausems, M.G.E.M., additional, Koudijs, M.J., additional, van de Beek, I., additional, van Engelen, K., additional, Gille, J.J.P., additional, Gómez García, E.B., additional, Blok, M.J., additional, de Boer, M., additional, Berger, L.P.V., additional, van der Hout, A.H., additional, Mourits, M.J.E., additional, de Bock, G.H., additional, Siesling, S., additional, Verloop, J., additional, and van den Broek, E.C., additional
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- 2021
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13. Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
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Kramer, Iris, Hooning, Maartje J, Mavaddat, Nasim, Hauptmann, Michael, Keeman, Renske, Steyerberg, Ewout W, Giardiello, Daniele, Antoniou, Antonis C, Pharoah, Paul DP, Canisius, Sander, Abu-Ful, Zumuruda, Andrulis, Irene L, Anton-Culver, Hoda, Aronson, Kristan J, Augustinsson, Annelie, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brauch, Hiltrud, Bremer, Michael, Brucker, Sara Y, Burwinkel, Barbara, Castelao, Jose E, Chan, Tsun L, Chang-Claude, Jenny, Chanock, Stephen J, Chenevix-Trench, Georgia, Choi, Ji-Yeob, Clarke, Christine L, NBCS Collaborators, Collée, J Margriet, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dunning, Alison M, Dwek, Miriam, Eccles, Diana M, Evans, D Gareth, Fasching, Peter A, Flyger, Henrik, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A, Giles, Graham G, Goldgar, David E, González-Neira, Anna, Haiman, Christopher A, Håkansson, Niclas, Hamann, Ute, Hartman, Mikael, Heemskerk-Gerritsen, Bernadette AM, Hollestelle, Antoinette, Hopper, John L, Hou, Ming-Feng, Howell, Anthony, ABCTB Investigators, kConFab Investigators, Ito, Hidemi, Jakimovska, Milena, Jakubowska, Anna, Janni, Wolfgang, John, Esther M, Jung, Audrey, Kang, Daehee, Kets, C Marleen, Khusnutdinova, Elza, Ko, Yon-Dschun, Kristensen, Vessela N, Kurian, Allison W, Kwong, Ava, Lambrechts, Diether, Le Marchand, Loic, Li, Jingmei, Lindblom, Annika, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Matsuo, Keitaro, Mavroudis, Dimitrios, Meindl, Alfons, Milne, Roger L, Mulligan, Anna Marie, Muranen, Taru A, Neuhausen, Susan L, Nevanlinna, Heli, Newman, William G, Olshan, Andrew F, Olson, Janet E, Olsson, Håkan, Park-Simon, Tjoung-Won, Peto, Julian, Petridis, Christos, Plaseska-Karanfilska, Dijana, Presneau, Nadege, Pylkäs, Katri, Radice, Paolo, Rennert, Gad, Romero, Atocha, Roylance, Rebecca, Saloustros, Emmanouil, Sawyer, Elinor J, Schmutzler, Rita K, Schwentner, Lukas, Scott, Christopher, See, Mee-Hoong, Shah, Mitul, Shen, Chen-Yang, Shu, Xiao-Ou, Siesling, Sabine, Slager, Susan, Sohn, Christof, Southey, Melissa C, Spinelli, John J, Stone, Jennifer, Tapper, William J, Tengström, Maria, Teo, Soo Hwang, Terry, Mary Beth, Tollenaar, Rob AEM, Tomlinson, Ian, Troester, Melissa A, Vachon, Celine M, van Ongeval, Chantal, van Veen, Elke M, Winqvist, Robert, Wolk, Alicja, Zheng, Wei, Ziogas, Argyrios, Easton, Douglas F, Hall, Per, Schmidt, Marjanka K, Mavaddat, Nasim [0000-0003-0307-055X], Antoniou, Antonis [0000-0001-9223-3116], Pharoah, Paul [0000-0001-8494-732X], Dunning, Alison [0000-0001-6651-7166], Easton, Douglas [0000-0003-2444-3247], and Apollo - University of Cambridge Repository
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Adult ,Multifactorial Inheritance ,Receptor, ErbB-2 ,Gene Expression ,Breast Neoplasms ,Risk Assessment ,White People ,Cohort Studies ,Asian People ,parasitic diseases ,Humans ,Genetic Predisposition to Disease ,Aged ,Proportional Hazards Models ,Genome, Human ,Estrogen Receptor alpha ,Neoplasms, Second Primary ,Middle Aged ,Prognosis ,Neoadjuvant Therapy ,polygenic risk score ,contralateral breast cancer ,epidemiology ,Female ,genetic ,Receptors, Progesterone ,Genome-Wide Association Study - Abstract
Previous research has shown that polygenic risk scores (PRSs) can be used to stratify women according to their risk of developing primary invasive breast cancer. This study aimed to evaluate the association between a recently validated PRS of 313 germline variants (PRS313) and contralateral breast cancer (CBC) risk. We included 56,068 women of European ancestry diagnosed with first invasive breast cancer from 1990 onward with follow-up from the Breast Cancer Association Consortium. Metachronous CBC risk (N = 1,027) according to the distribution of PRS313 was quantified using Cox regression analyses. We assessed PRS313 interaction with age at first diagnosis, family history, morphology, ER status, PR status, and HER2 status, and (neo)adjuvant therapy. In studies of Asian women, with limited follow-up, CBC risk associated with PRS313 was assessed using logistic regression for 340 women with CBC compared with 12,133 women with unilateral breast cancer. Higher PRS313 was associated with increased CBC risk: hazard ratio per standard deviation (SD) = 1.25 (95%CI = 1.18-1.33) for Europeans, and an OR per SD = 1.15 (95%CI = 1.02-1.29) for Asians. The absolute lifetime risks of CBC, accounting for death as competing risk, were 12.4% for European women at the 10th percentile and 20.5% at the 90th percentile of PRS313. We found no evidence of confounding by or interaction with individual characteristics, characteristics of the primary tumor, or treatment. The C-index for the PRS313 alone was 0.563 (95%CI = 0.547-0.586). In conclusion, PRS313 is an independent factor associated with CBC risk and can be incorporated into CBC risk prediction models to help improve stratification and optimize surveillance and treatment strategies.
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- 2020
14. Validation of the BOADICEA model and a 313-variant polygenic risk score for breast cancer risk prediction in a Dutch prospective cohort
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Lakeman, Inge M.M., primary, Rodríguez-Girondo, Mar, additional, Lee, Andrew, additional, Ruiter, Rikje, additional, Stricker, Bruno H., additional, Wijnant, Sara R.A., additional, Kavousi, Maryam, additional, Antoniou, Antonis C., additional, Schmidt, Marjanka K., additional, Uitterlinden, André G., additional, van Rooij, Jeroen, additional, and Devilee, Peter, additional
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- 2020
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15. Prostate Cancer Risk by BRCA2 Genomic Regions
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Nyberg, Tommy, primary, Frost, Debra, additional, Barrowdale, Daniel, additional, Evans, D. Gareth, additional, Bancroft, Elizabeth, additional, Adlard, Julian, additional, Ahmed, Munaza, additional, Barwell, Julian, additional, Brady, Angela F., additional, Brewer, Carole, additional, Cook, Jackie, additional, Davidson, Rosemarie, additional, Donaldson, Alan, additional, Eason, Jacqueline, additional, Gregory, Helen, additional, Henderson, Alex, additional, Izatt, Louise, additional, Kennedy, M. John, additional, Miller, Claire, additional, Morrison, Patrick J., additional, Murray, Alex, additional, Ong, Kai-Ren, additional, Porteous, Mary, additional, Pottinger, Caroline, additional, Rogers, Mark T., additional, Side, Lucy, additional, Snape, Katie, additional, Tripathi, Vishakha, additional, Walker, Lisa, additional, Tischkowitz, Marc, additional, Eeles, Rosalind, additional, Easton, Douglas F., additional, and Antoniou, Antonis C., additional
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- 2020
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16. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
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Barnes, Daniel R., primary, Rookus, Matti A., additional, McGuffog, Lesley, additional, Leslie, Goska, additional, Mooij, Thea M., additional, Dennis, Joe, additional, Mavaddat, Nasim, additional, Adlard, Julian, additional, Ahmed, Munaza, additional, Aittomäki, Kristiina, additional, Andrieu, Nadine, additional, Andrulis, Irene L., additional, Arnold, Norbert, additional, Arun, Banu K., additional, Azzollini, Jacopo, additional, Balmaña, Judith, additional, Barkardottir, Rosa B., additional, Barrowdale, Daniel, additional, Benitez, Javier, additional, Berthet, Pascaline, additional, Białkowska, Katarzyna, additional, Blanco, Amie M., additional, Blok, Marinus J., additional, Bonanni, Bernardo, additional, Boonen, Susanne E., additional, Borg, Åke, additional, Bozsik, Aniko, additional, Bradbury, Angela R., additional, Brennan, Paul, additional, Brewer, Carole, additional, Brunet, Joan, additional, Buys, Saundra S., additional, Caldés, Trinidad, additional, Caligo, Maria A., additional, Campbell, Ian, additional, Christensen, Lise Lotte, additional, Chung, Wendy K., additional, Claes, Kathleen B.M., additional, Colas, Chrystelle, additional, Collonge-Rame, Marie-Agnès, additional, Delnatte, Capucine, additional, Faivre, Laurence, additional, Giraud, Sophie, additional, Lasset, Christine, additional, Mari, Véronique, additional, Mebirouk, Noura, additional, Mouret-Fourme, Emmanuelle, additional, Schuster, Hélène, additional, Stoppa-Lyonnet, Dominique, additional, Antoniou, Antonis, additional, Cook, Jackie, additional, Davidson, Rosemarie, additional, Easton, Douglas, additional, Eeles, Ros, additional, Evans, D. Gareth, additional, Frost, Debra, additional, Hanson, Helen, additional, Izatt, Louise, additional, Ong, Kai-ren, additional, Side, Lucy, additional, O’Shaughnessy-Kirwan, Aoife, additional, Tischkowitz, Marc, additional, Walker, Lisa, additional, Daly, Mary B., additional, de la Hoya, Miguel, additional, de Putter, Robin, additional, Devilee, Peter, additional, Diez, Orland, additional, Ding, Yuan Chun, additional, Domchek, Susan M., additional, Dorfling, Cecilia M., additional, Dumont, Martine, additional, Ejlertsen, Bent, additional, Engel, Christoph, additional, Foretova, Lenka, additional, Fostira, Florentia, additional, Friedlander, Michael, additional, Friedman, Eitan, additional, Ganz, Patricia A., additional, Garber, Judy, additional, Gehrig, Andrea, additional, Gerdes, Anne-Marie, additional, Gesta, Paul, additional, Glendon, Gord, additional, Godwin, Andrew K., additional, Goldgar, David E., additional, González-Neira, Anna, additional, Greene, Mark H., additional, Gschwantler-Kaulich, Daphne, additional, Hahnen, Eric, additional, Hamann, Ute, additional, Hentschel, Julia, additional, Hogervorst, Frans B.L., additional, Hooning, Maartje J., additional, Horvath, Judit, additional, Hu, Chunling, additional, Hulick, Peter J., additional, Imyanitov, Evgeny N., additional, Chenevix-Trench, Georgia, additional, Phillips, Kelly-Anne, additional, Spurdle, Amanda, additional, Blok, Marinus, additional, Hogervorst, Frans, additional, Hooning, Maartje, additional, Koudijs, Marco, additional, Mensenkamp, Arjen, additional, Meijers-Heijboer, Hanne, additional, Rookus, Matti, additional, Engelen, Klaartje van, additional, Noguès, Catherine, additional, Isaacs, Claudine, additional, Izquierdo, Angel, additional, Jakubowska, Anna, additional, James, Paul A., additional, Janavicius, Ramunas, additional, John, Esther M., additional, Joseph, Vijai, additional, Karlan, Beth Y., additional, Kast, Karin, additional, Kruse, Torben A., additional, Kwong, Ava, additional, Laitman, Yael, additional, Lazaro, Conxi, additional, Lester, Jenny, additional, Lesueur, Fabienne, additional, Liljegren, Annelie, additional, Loud, Jennifer T., additional, Lubiński, Jan, additional, Mai, Phuong L., additional, Manoukian, Siranoush, additional, Meijers-Heijboer, Hanne E.J., additional, Meindl, Alfons, additional, Mensenkamp, Arjen R., additional, Miller, Austin, additional, Montagna, Marco, additional, Mukherjee, Semanti, additional, Mulligan, Anna Marie, additional, Nathanson, Katherine L., additional, Neuhausen, Susan L., additional, Nevanlinna, Heli, additional, Niederacher, Dieter, additional, Nielsen, Finn Cilius, additional, Nikitina-Zake, Liene, additional, Olah, Edith, additional, Olopade, Olufunmilayo I., additional, Osorio, Ana, additional, Ott, Claus-Eric, additional, Papi, Laura, additional, Park, Sue K., additional, Parsons, Michael T., additional, Pedersen, Inge Sokilde, additional, Peissel, Bernard, additional, Peixoto, Ana, additional, Peterlongo, Paolo, additional, Pfeiler, Georg, additional, Prajzendanc, Karolina, additional, Pujana, Miquel Angel, additional, Radice, Paolo, additional, Ramser, Juliane, additional, Ramus, Susan J., additional, Rantala, Johanna, additional, Rennert, Gad, additional, Risch, Harvey A., additional, Robson, Mark, additional, Rønlund, Karina, additional, Salani, Ritu, additional, Senter, Leigha, additional, Shah, Payal D., additional, Sharma, Priyanka, additional, Side, Lucy E., additional, Singer, Christian F., additional, Slavin, Thomas P., additional, Soucy, Penny, additional, Southey, Melissa C., additional, Spurdle, Amanda B., additional, Steinemann, Doris, additional, Steinsnyder, Zoe, additional, Sutter, Christian, additional, Tan, Yen Yen, additional, Teixeira, Manuel R., additional, Teo, Soo Hwang, additional, Thull, Darcy L., additional, Tognazzo, Silvia, additional, Toland, Amanda E., additional, Trainer, Alison H., additional, Tung, Nadine, additional, van Engelen, Klaartje, additional, van Rensburg, Elizabeth J., additional, Vega, Ana, additional, Vierstraete, Jeroen, additional, Wagner, Gabriel, additional, Wang-Gohrke, Shan, additional, Wappenschmidt, Barbara, additional, Weitzel, Jeffrey N., additional, Yadav, Siddhartha, additional, Yang, Xin, additional, Yannoukakos, Drakoulis, additional, Zimbalatti, Dario, additional, Offit, Kenneth, additional, Thomassen, Mads, additional, Couch, Fergus J., additional, Schmutzler, Rita K., additional, Simard, Jacques, additional, Easton, Douglas F., additional, and Antoniou, Antonis C., additional
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- 2020
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17. Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study
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Nyberg, Tommy, primary, Frost, Debra, additional, Barrowdale, Daniel, additional, Evans, D. Gareth, additional, Bancroft, Elizabeth, additional, Adlard, Julian, additional, Ahmed, Munaza, additional, Barwell, Julian, additional, Brady, Angela F., additional, Brewer, Carole, additional, Cook, Jackie, additional, Davidson, Rosemarie, additional, Donaldson, Alan, additional, Eason, Jacqueline, additional, Gregory, Helen, additional, Henderson, Alex, additional, Izatt, Louise, additional, Kennedy, M. John, additional, Miller, Claire, additional, Morrison, Patrick J., additional, Murray, Alex, additional, Ong, Kai-Ren, additional, Porteous, Mary, additional, Pottinger, Caroline, additional, Rogers, Mark T., additional, Side, Lucy, additional, Snape, Katie, additional, Walker, Lisa, additional, Tischkowitz, Marc, additional, Eeles, Rosalind, additional, Easton, Douglas F., additional, and Antoniou, Antonis C., additional
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- 2020
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18. BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors
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Lee, Andrew, Mavaddat, Nasim, Wilcox, Amber N., Cunningham, Alex P., Carver, Tim, Hartley, Simon, Babb de Villiers, Chantal, Izquierdo, Angel, Simard, Jacques, Schmidt, Marjanka K., Walter, Fiona M., Chatterjee, Nilanjan, Garcia-Closas, Montserrat, Tischkowitz, Marc, Pharoah, Paul, Easton, Douglas F., Antoniou, Antonis C., Lee, Andrew [0000-0003-0677-0252], Mavaddat, Nasim [0000-0003-0307-055X], Cunningham, Alex [0000-0002-3737-9611], Babb, Chantal Louiza [0000-0003-1334-1819], Walter, Fiona [0000-0002-7191-6476], Tischkowitz, Marc [0000-0002-7880-0628], Pharoah, Paul [0000-0001-8494-732X], Easton, Douglas [0000-0003-2444-3247], Antoniou, Antonis [0000-0001-9223-3116], and Apollo - University of Cambridge Repository
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Multifactorial Inheritance ,Breast Neoplasms ,Ataxia Telangiectasia Mutated Proteins ,PRS ,Polymorphism, Single Nucleotide ,Risk Assessment ,Article ,risk prediction ,breast cancer ,Breast -- Cancer -- Prognosis ,Risk Factors ,Humans ,Genetic Predisposition to Disease ,Genetic Testing ,BRCA2 Protein ,Ovarian Neoplasms ,BRCA1 Protein ,Correction ,rare variants ,Checkpoint Kinase 2 ,rare-variants ,Mutation ,BOADICEA ,Female ,Mama -- Càncer -- Prognosi ,Fanconi Anemia Complementation Group N Protein - Abstract
Breast cancer (BC) risk prediction allows systematic identification of individuals at highest and lowest risk. We extend the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) risk model to incorporate the effects of polygenic risk scores (PRS) and other risk factors (RFs). Methods BOADICEA incorporates the effects of truncating variants in BRCA1, BRCA2, PALB2, CHEK2, and ATM; a PRS based on 313 single-nucleotide polymorphisms (SNPs) explaining 20% of BC polygenic variance; a residual polygenic component accounting for other genetic/familial effects; known lifestyle/hormonal/reproductive RFs; and mammographic density, while allowing for missing information. Results Among all factors considered, the predicted UK BC risk distribution is widest for the PRS, followed by mammographic density. The highest BC risk stratification is achieved when all genetic and lifestyle/hormonal/reproductive/anthropomorphic factors are considered jointly. With all factors, the predicted lifetime risks for women in the UK population vary from 2.8% for the 1st percentile to 30.6% for the 99th percentile, with 14.7% of women predicted to have a lifetime risk of ≥17–
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- 2019
19. Homeobox B13 G84E Mutation and Prostate Cancer Risk
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Nyberg, Tommy, Govindasami, Koveela, Leslie, Goska, Dadaev, Tokhir, Bancroft, Elizabeth, Ni Raghallaigh, Holly, Brook, Mark N, Hussain, Nafisa, Keating, Diana, Lee, Andrew, McMahon, Romayne, Morgan, Angela, Mullen, Andrea, Osborne, Andrea, Rageevakumar, Reshma, UK Genetic Prostate Cancer Study Collaborators, Kote-Jarai, Zsofia, Eeles, Rosalind, Antoniou, Antonis C, Nyberg, Tommy [0000-0002-9436-0626], Leslie, Goska [0000-0001-5756-6222], Lee, Andrew [0000-0003-0677-0252], Antoniou, Antonis [0000-0001-9223-3116], and Apollo - University of Cambridge Repository
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Genetic risk ,Homeodomain Proteins ,Male ,Prostate cancer ,Kin-cohort study ,Age Factors ,Prostatic Neoplasms ,Risk Assessment ,United Kingdom ,Cohort Studies ,Meta-analysis ,Risk Factors ,Mutation ,Humans ,HomeoboxB13 ,Medical History Taking - Abstract
BACKGROUND: The homeobox B13 (HOXB13) G84E mutation has been recommended for use in genetic counselling for prostate cancer (PCa), but the magnitude of PCa risk conferred by this mutation is uncertain. OBJECTIVE: To obtain precise risk estimates for mutation carriers and information on how these vary by family history and other factors. DESIGN, SETTING, AND PARTICIPANTS: Two-fold: a systematic review and meta-analysis of published risk estimates, and a kin-cohort study comprising pedigree data on 11983 PCa patients enrolled during 1993-2014 from 189 UK hospitals and who had been genotyped for HOXB13 G84E. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Relative and absolute PCa risks. Complex segregation analysis with ascertainment adjustment to derive age-specific risks applicable to the population, and to investigate how these vary by family history and birth cohort. RESULTS AND LIMITATIONS: A meta-analysis of case-control studies revealed significant heterogeneity between reported relative risks (RRs; range: 0.95-33.0, p
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- 2018
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20. BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors
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Lee, Andrew, primary, Mavaddat, Nasim, additional, Wilcox, Amber N., additional, Cunningham, Alex P., additional, Carver, Tim, additional, Hartley, Simon, additional, Babb de Villiers, Chantal, additional, Izquierdo, Angel, additional, Simard, Jacques, additional, Schmidt, Marjanka K., additional, Walter, Fiona M., additional, Chatterjee, Nilanjan, additional, Garcia-Closas, Montserrat, additional, Tischkowitz, Marc, additional, Pharoah, Paul, additional, Easton, Douglas F., additional, and Antoniou, Antonis C., additional
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- 2019
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21. Correction: BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors
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Lee, Andrew, primary, Mavaddat, Nasim, additional, Wilcox, Amber N., additional, Cunningham, Alex P., additional, Carver, Tim, additional, Hartley, Simon, additional, de Villiers, Chantal Babb, additional, Izquierdo, Angel, additional, Simard, Jacques, additional, Schmidt, Marjanka K., additional, Walter, Fiona M., additional, Chatterjee, Nilanjan, additional, Garcia-Closas, Montserrat, additional, Tischkowitz, Marc, additional, Pharoah, Paul, additional, Easton, Douglas F., additional, and Antoniou, Antonis C., additional
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- 2019
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22. Homeobox B13 G84E Mutation and Prostate Cancer Risk
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Nyberg, Tommy, primary, Govindasami, Koveela, additional, Leslie, Goska, additional, Dadaev, Tokhir, additional, Bancroft, Elizabeth, additional, Ni Raghallaigh, Holly, additional, Brook, Mark N., additional, Hussain, Nafisa, additional, Keating, Diana, additional, Lee, Andrew, additional, McMahon, Romayne, additional, Morgan, Angela, additional, Mullen, Andrea, additional, Osborne, Andrea, additional, Rageevakumar, Reshma, additional, Kote-Jarai, Zsofia, additional, Eeles, Rosalind, additional, and Antoniou, Antonis C., additional
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- 2019
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23. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
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Mavaddat, Nasim, primary, Michailidou, Kyriaki, additional, Dennis, Joe, additional, Lush, Michael, additional, Fachal, Laura, additional, Lee, Andrew, additional, Tyrer, Jonathan P., additional, Chen, Ting-Huei, additional, Wang, Qin, additional, Bolla, Manjeet K., additional, Yang, Xin, additional, Adank, Muriel A., additional, Ahearn, Thomas, additional, Aittomäki, Kristiina, additional, Allen, Jamie, additional, Andrulis, Irene L., additional, Anton-Culver, Hoda, additional, Antonenkova, Natalia N., additional, Arndt, Volker, additional, Aronson, Kristan J., additional, Auer, Paul L., additional, Auvinen, Päivi, additional, Barrdahl, Myrto, additional, Beane Freeman, Laura E., additional, Beckmann, Matthias W., additional, Behrens, Sabine, additional, Benitez, Javier, additional, Bermisheva, Marina, additional, Bernstein, Leslie, additional, Blomqvist, Carl, additional, Bogdanova, Natalia V., additional, Bojesen, Stig E., additional, Bonanni, Bernardo, additional, Børresen-Dale, Anne-Lise, additional, Brauch, Hiltrud, additional, Bremer, Michael, additional, Brenner, Hermann, additional, Brentnall, Adam, additional, Brock, Ian W., additional, Brooks-Wilson, Angela, additional, Brucker, Sara Y., additional, Brüning, Thomas, additional, Burwinkel, Barbara, additional, Campa, Daniele, additional, Carter, Brian D., additional, Castelao, Jose E., additional, Chanock, Stephen J., additional, Chlebowski, Rowan, additional, Christiansen, Hans, additional, Clarke, Christine L., additional, Collée, J. Margriet, additional, Cordina-Duverger, Emilie, additional, Cornelissen, Sten, additional, Couch, Fergus J., additional, Cox, Angela, additional, Cross, Simon S., additional, Czene, Kamila, additional, Daly, Mary B., additional, Devilee, Peter, additional, Dörk, Thilo, additional, dos-Santos-Silva, Isabel, additional, Dumont, Martine, additional, Durcan, Lorraine, additional, Dwek, Miriam, additional, Eccles, Diana M., additional, Ekici, Arif B., additional, Eliassen, A. Heather, additional, Ellberg, Carolina, additional, Engel, Christoph, additional, Eriksson, Mikael, additional, Evans, D. Gareth, additional, Fasching, Peter A., additional, Figueroa, Jonine, additional, Fletcher, Olivia, additional, Flyger, Henrik, additional, Försti, Asta, additional, Fritschi, Lin, additional, Gabrielson, Marike, additional, Gago-Dominguez, Manuela, additional, Gapstur, Susan M., additional, García-Sáenz, José A., additional, Gaudet, Mia M., additional, Georgoulias, Vassilios, additional, Giles, Graham G., additional, Gilyazova, Irina R., additional, Glendon, Gord, additional, Goldberg, Mark S., additional, Goldgar, David E., additional, González-Neira, Anna, additional, Grenaker Alnæs, Grethe I., additional, Grip, Mervi, additional, Gronwald, Jacek, additional, Grundy, Anne, additional, Guénel, Pascal, additional, Haeberle, Lothar, additional, Hahnen, Eric, additional, Haiman, Christopher A., additional, Håkansson, Niclas, additional, Hamann, Ute, additional, Hankinson, Susan E., additional, Harkness, Elaine F., additional, Hart, Steven N., additional, He, Wei, additional, Hein, Alexander, additional, Heyworth, Jane, additional, Hillemanns, Peter, additional, Hollestelle, Antoinette, additional, Hooning, Maartje J., additional, Hoover, Robert N., additional, Hopper, John L., additional, Howell, Anthony, additional, Huang, Guanmengqian, additional, Humphreys, Keith, additional, Hunter, David J., additional, Jakimovska, Milena, additional, Jakubowska, Anna, additional, Janni, Wolfgang, additional, John, Esther M., additional, Johnson, Nichola, additional, Jones, Michael E., additional, Jukkola-Vuorinen, Arja, additional, Jung, Audrey, additional, Kaaks, Rudolf, additional, Kaczmarek, Katarzyna, additional, Kataja, Vesa, additional, Keeman, Renske, additional, Kerin, Michael J., additional, Khusnutdinova, Elza, additional, Kiiski, Johanna I., additional, Knight, Julia A., additional, Ko, Yon-Dschun, additional, Kosma, Veli-Matti, additional, Koutros, Stella, additional, Kristensen, Vessela N., additional, Krüger, Ute, additional, Kühl, Tabea, additional, Lambrechts, Diether, additional, Le Marchand, Loic, additional, Lee, Eunjung, additional, Lejbkowicz, Flavio, additional, Lilyquist, Jenna, additional, Lindblom, Annika, additional, Lindström, Sara, additional, Lissowska, Jolanta, additional, Lo, Wing-Yee, additional, Loibl, Sibylle, additional, Long, Jirong, additional, Lubiński, Jan, additional, Lux, Michael P., additional, MacInnis, Robert J., additional, Maishman, Tom, additional, Makalic, Enes, additional, Maleva Kostovska, Ivana, additional, Mannermaa, Arto, additional, Manoukian, Siranoush, additional, Margolin, Sara, additional, Martens, John W.M., additional, Martinez, Maria Elena, additional, Mavroudis, Dimitrios, additional, McLean, Catriona, additional, Meindl, Alfons, additional, Menon, Usha, additional, Middha, Pooja, additional, Miller, Nicola, additional, Moreno, Fernando, additional, Mulligan, Anna Marie, additional, Mulot, Claire, additional, Muñoz-Garzon, Victor M., additional, Neuhausen, Susan L., additional, Nevanlinna, Heli, additional, Neven, Patrick, additional, Newman, William G., additional, Nielsen, Sune F., additional, Nordestgaard, Børge G., additional, Norman, Aaron, additional, Offit, Kenneth, additional, Olson, Janet E., additional, Olsson, Håkan, additional, Orr, Nick, additional, Pankratz, V. Shane, additional, Park-Simon, Tjoung-Won, additional, Perez, Jose I.A., additional, Pérez-Barrios, Clara, additional, Peterlongo, Paolo, additional, Peto, Julian, additional, Pinchev, Mila, additional, Plaseska-Karanfilska, Dijana, additional, Polley, Eric C., additional, Prentice, Ross, additional, Presneau, Nadege, additional, Prokofyeva, Darya, additional, Purrington, Kristen, additional, Pylkäs, Katri, additional, Rack, Brigitte, additional, Radice, Paolo, additional, Rau-Murthy, Rohini, additional, Rennert, Gad, additional, Rennert, Hedy S., additional, Rhenius, Valerie, additional, Robson, Mark, additional, Romero, Atocha, additional, Ruddy, Kathryn J., additional, Ruebner, Matthias, additional, Saloustros, Emmanouil, additional, Sandler, Dale P., additional, Sawyer, Elinor J., additional, Schmidt, Daniel F., additional, Schmutzler, Rita K., additional, Schneeweiss, Andreas, additional, Schoemaker, Minouk J., additional, Schumacher, Fredrick, additional, Schürmann, Peter, additional, Schwentner, Lukas, additional, Scott, Christopher, additional, Scott, Rodney J., additional, Seynaeve, Caroline, additional, Shah, Mitul, additional, Sherman, Mark E., additional, Shrubsole, Martha J., additional, Shu, Xiao-Ou, additional, Slager, Susan, additional, Smeets, Ann, additional, Sohn, Christof, additional, Soucy, Penny, additional, Southey, Melissa C., additional, Spinelli, John J., additional, Stegmaier, Christa, additional, Stone, Jennifer, additional, Swerdlow, Anthony J., additional, Tamimi, Rulla M., additional, Tapper, William J., additional, Taylor, Jack A., additional, Terry, Mary Beth, additional, Thöne, Kathrin, additional, Tollenaar, Rob A.E.M., additional, Tomlinson, Ian, additional, Truong, Thérèse, additional, Tzardi, Maria, additional, Ulmer, Hans-Ulrich, additional, Untch, Michael, additional, Vachon, Celine M., additional, van Veen, Elke M., additional, Vijai, Joseph, additional, Weinberg, Clarice R., additional, Wendt, Camilla, additional, Whittemore, Alice S., additional, Wildiers, Hans, additional, Willett, Walter, additional, Winqvist, Robert, additional, Wolk, Alicja, additional, Yang, Xiaohong R., additional, Yannoukakos, Drakoulis, additional, Zhang, Yan, additional, Zheng, Wei, additional, Ziogas, Argyrios, additional, Dunning, Alison M., additional, Thompson, Deborah J., additional, Chenevix-Trench, Georgia, additional, Chang-Claude, Jenny, additional, Schmidt, Marjanka K., additional, Hall, Per, additional, Milne, Roger L., additional, Pharoah, Paul D.P., additional, Antoniou, Antonis C., additional, Chatterjee, Nilanjan, additional, Kraft, Peter, additional, García-Closas, Montserrat, additional, Simard, Jacques, additional, and Easton, Douglas F., additional
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- 2019
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24. Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study
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Girardi, Fabio, primary, Barnes, Daniel R., additional, Barrowdale, Daniel, additional, Frost, Debra, additional, Brady, Angela F., additional, Miller, Claire, additional, Henderson, Alex, additional, Donaldson, Alan, additional, Murray, Alex, additional, Brewer, Carole, additional, Pottinger, Caroline, additional, Evans, D Gareth, additional, Eccles, Diana, additional, Lalloo, Fiona, additional, Gregory, Helen, additional, Cook, Jackie, additional, Eason, Jacqueline, additional, Adlard, Julian, additional, Barwell, Julian, additional, Ong, Kai Ren, additional, Walker, Lisa, additional, Izatt, Louise, additional, Side, Lucy E., additional, Kennedy, M John, additional, Tischkowitz, Marc, additional, Rogers, Mark T., additional, Porteous, Mary E., additional, Morrison, Patrick J., additional, Eeles, Ros, additional, Davidson, Rosemarie, additional, Snape, Katie, additional, Easton, Douglas F., additional, and Antoniou, Antonis C, additional
- Published
- 2018
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25. Breast cancer risk prediction using a polygenic risk score in the familial setting: a prospective study from the Breast Cancer Family Registry and kConFab
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Li, Hongyan, Feng, Bingjian, Miron, Alexander, Chen, Xiaoqing, Beesley, Jonathan, Bimeh, Emmanuella, Barrowdale, Daniel, John, Esther M, Daly, Mary B, Andrulis, Irene L, Buys, Saundra S, Kraft, Peter, kConFab investigators, Thorne, Heather, Chenevix-Trench, Georgia, Southey, Melissa C, Antoniou, Antonis C, James, Paul A, Terry, Mary Beth, Phillips, Kelly-Anne, Hopper, John L, Mitchell, Gillian, Goldgar, David E, Beesley, Jonathan [0000-0003-1942-325X], Barrowdale, Daniel [0000-0003-1661-3939], Southey, Melissa C [0000-0002-6313-9005], James, Paul A [0000-0002-4361-4657], Hopper, John L [0000-0002-8567-173X], Goldgar, David E [0000-0003-0697-9347], and Apollo - University of Cambridge Repository
- Subjects
Adult ,Multifactorial Inheritance ,Risk Factors ,Humans ,Breast Neoplasms ,Female ,Genetic Predisposition to Disease ,Registries ,Middle Aged ,Polymorphism, Single Nucleotide ,Risk Assessment ,Early Detection of Cancer ,Aged - Abstract
PURPOSE: This study examined the utility of sets of single-nucleotide polymorphisms (SNPs) in familial but non-BRCA-associated breast cancer (BC). METHODS: We derived a polygenic risk score (PRS) based on 24 known BC risk SNPs for 4,365 women from the Breast Cancer Family Registry and Kathleen Cuningham Consortium Foundation for Research into Familial Breast Cancer familial BC cohorts. We compared scores for women based on cancer status at baseline; 2,599 women unaffected at enrollment were followed-up for an average of 7.4 years. Cox proportional hazards regression was used to analyze the association of PRS with BC risk. The BOADICEA risk prediction algorithm was used to measure risk based on family history alone. RESULTS: The mean PRS at baseline was 2.25 (SD, 0.35) for affected women and was 2.17 (SD, 0.35) for unaffected women from combined cohorts (P < 10-6). During follow-up, 205 BC cases occurred. The hazard ratios for continuous PRS (per SD) and upper versus lower quintiles were 1.38 (95% confidence interval: 1.22-1.56) and 3.18 (95% confidence interval: 1.84-5.23) respectively. Based on their PRS-based predicted risk, management for up to 23% of women could be altered. CONCLUSION: Including BC-associated SNPs in risk assessment can provide more accurate risk prediction than family history alone and can influence recommendations for cancer screening and prevention modalities for high-risk women.Genet Med 19 1, 30-35.
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- 2017
26. Cost effectiveness of population based BRCA1 founder mutation testing in Sephardi Jewish women
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Patel, Shreeya, primary, Legood, Rosa, additional, Evans, D. Gareth, additional, Turnbull, Clare, additional, Antoniou, Antonis C., additional, Menon, Usha, additional, Jacobs, Ian, additional, and Manchanda, Ranjit, additional
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- 2018
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27. Cost-effectiveness of population based BRCA testing with varying Ashkenazi Jewish ancestry
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Manchanda, Ranjit, primary, Patel, Shreeya, additional, Antoniou, Antonis C., additional, Levy-Lahad, Ephrat, additional, Turnbull, Clare, additional, Evans, D. Gareth, additional, Hopper, John L., additional, Macinnis, Robert J., additional, Menon, Usha, additional, Jacobs, Ian, additional, and Legood, Rosa, additional
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- 2017
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28. Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model
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Lee, Andrew J., primary, Cunningham, Alex P., additional, Tischkowitz, Marc, additional, Simard, Jacques, additional, Pharoah, Paul D., additional, Easton, Douglas F., additional, and Antoniou, Antonis C., additional
- Published
- 2016
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29. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
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Hollestelle, Antoinette, primary, van der Baan, Frederieke H., additional, Berchuck, Andrew, additional, Johnatty, Sharon E., additional, Aben, Katja K., additional, Agnarsson, Bjarni A., additional, Aittomäki, Kristiina, additional, Alducci, Elisa, additional, Andrulis, Irene L., additional, Anton-Culver, Hoda, additional, Antonenkova, Natalia N., additional, Antoniou, Antonis C., additional, Apicella, Carmel, additional, Arndt, Volker, additional, Arnold, Norbert, additional, Arun, Banu K., additional, Arver, Brita, additional, Ashworth, Alan, additional, Baglietto, Laura, additional, Balleine, Rosemary, additional, Bandera, Elisa V., additional, Barrowdale, Daniel, additional, Bean, Yukie T., additional, Beckmann, Lars, additional, Beckmann, Matthias W., additional, Benitez, Javier, additional, Berger, Andreas, additional, Berger, Raanan, additional, Beuselinck, Benoit, additional, Bisogna, Maria, additional, Bjorge, Line, additional, Blomqvist, Carl, additional, Bogdanova, Natalia V., additional, Bojesen, Anders, additional, Bojesen, Stig E., additional, Bolla, Manjeet K., additional, Bonanni, Bernardo, additional, Brand, Judith S., additional, Brauch, Hiltrud, additional, Brenner, Hermann, additional, Brinton, Louise, additional, Brooks-Wilson, Angela, additional, Bruinsma, Fiona, additional, Brunet, Joan, additional, Brüning, Thomas, additional, Budzilowska, Agnieszka, additional, Bunker, Clareann H., additional, Burwinkel, Barbara, additional, Butzow, Ralf, additional, Buys, Saundra S., additional, Caligo, Maria A., additional, Campbell, Ian, additional, Carter, Jonathan, additional, Chang-Claude, Jenny, additional, Chanock, Stephen J., additional, Claes, Kathleen B.M., additional, Collée, J. Margriet, additional, Cook, Linda S., additional, Couch, Fergus J., additional, Cox, Angela, additional, Cramer, Daniel, additional, Cross, Simon S., additional, Cunningham, Julie M., additional, Cybulski, Cezary, additional, Czene, Kamila, additional, Damiola, Francesca, additional, Dansonka-Mieszkowska, Agnieszka, additional, Darabi, Hatef, additional, de la Hoya, Miguel, additional, deFazio, Anna, additional, Dennis, Joseph, additional, Devilee, Peter, additional, Dicks, Ed M., additional, Diez, Orland, additional, Doherty, Jennifer A., additional, Domchek, Susan M., additional, Dorfling, Cecilia M., additional, Dörk, Thilo, additional, Silva, Isabel Dos Santos, additional, du Bois, Andreas, additional, Dumont, Martine, additional, Dunning, Alison M., additional, Duran, Mercedes, additional, Easton, Douglas F., additional, Eccles, Diana, additional, Edwards, Robert P., additional, Ehrencrona, Hans, additional, Ejlertsen, Bent, additional, Ekici, Arif B., additional, Ellis, Steve D., additional, Engel, Christoph, additional, Eriksson, Mikael, additional, Fasching, Peter A., additional, Feliubadalo, Lidia, additional, Figueroa, Jonine, additional, Flesch-Janys, Dieter, additional, Fletcher, Olivia, additional, Fontaine, Annette, additional, Fortuzzi, Stefano, additional, Fostira, Florentia, additional, Fridley, Brooke L., additional, Friebel, Tara, additional, Friedman, Eitan, additional, Friel, Grace, additional, Frost, Debra, additional, Garber, Judy, additional, García-Closas, Montserrat, additional, Gayther, Simon A., additional, Gentry-Maharaj, Aleksandra, additional, Gerdes, Anne-Marie, additional, Giles, Graham G., additional, Glasspool, Rosalind, additional, Glendon, Gord, additional, Godwin, Andrew K., additional, Goodman, Marc T., additional, Gore, Martin, additional, Greene, Mark H., additional, Grip, Mervi, additional, Gronwald, Jacek, additional, Gschwantler Kaulich, Daphne, additional, Guénel, Pascal, additional, Guzman, Starr R., additional, Haeberle, Lothar, additional, Haiman, Christopher A., additional, Hall, Per, additional, Halverson, Sandra L., additional, Hamann, Ute, additional, Hansen, Thomas V.O., additional, Harter, Philipp, additional, Hartikainen, Jaana M., additional, Healey, Sue, additional, Hein, Alexander, additional, Heitz, Florian, additional, Henderson, Brian E., additional, Herzog, Josef, additional, T Hildebrandt, Michelle A., additional, Høgdall, Claus K., additional, Høgdall, Estrid, additional, Hogervorst, Frans B.L., additional, Hopper, John L., additional, Humphreys, Keith, additional, Huzarski, Tomasz, additional, Imyanitov, Evgeny N., additional, Isaacs, Claudine, additional, Jakubowska, Anna, additional, Janavicius, Ramunas, additional, Jaworska, Katarzyna, additional, Jensen, Allan, additional, Jensen, Uffe Birk, additional, Johnson, Nichola, additional, Jukkola-Vuorinen, Arja, additional, Kabisch, Maria, additional, Karlan, Beth Y., additional, Kataja, Vesa, additional, Kauff, Noah, additional, Kelemen, Linda E., additional, Kerin, Michael J., additional, Kiemeney, Lambertus A., additional, Kjaer, Susanne K., additional, Knight, Julia A., additional, Knol-Bout, Jacoba P., additional, Konstantopoulou, Irene, additional, Kosma, Veli-Matti, additional, Krakstad, Camilla, additional, Kristensen, Vessela, additional, Kuchenbaecker, Karoline B., additional, Kupryjanczyk, Jolanta, additional, Laitman, Yael, additional, Lambrechts, Diether, additional, Lambrechts, Sandrina, additional, Larson, Melissa C., additional, Lasa, Adriana, additional, Laurent-Puig, Pierre, additional, Lazaro, Conxi, additional, Le, Nhu D., additional, Le Marchand, Loic, additional, Leminen, Arto, additional, Lester, Jenny, additional, Levine, Douglas A., additional, Li, Jingmei, additional, Liang, Dong, additional, Lindblom, Annika, additional, Lindor, Noralane, additional, Lissowska, Jolanta, additional, Long, Jirong, additional, Lu, Karen H., additional, Lubinski, Jan, additional, Lundvall, Lene, additional, Lurie, Galina, additional, Mai, Phuong L., additional, Mannermaa, Arto, additional, Margolin, Sara, additional, Mariette, Frederique, additional, Marme, Frederik, additional, Martens, John W.M., additional, Massuger, Leon F.A.G., additional, Maugard, Christine, additional, Mazoyer, Sylvie, additional, McGuffog, Lesley, additional, McGuire, Valerie, additional, McLean, Catriona, additional, McNeish, Iain, additional, Meindl, Alfons, additional, Menegaux, Florence, additional, Menéndez, Primitiva, additional, Menkiszak, Janusz, additional, Menon, Usha, additional, Mensenkamp, Arjen R., additional, Miller, Nicola, additional, Milne, Roger L., additional, Modugno, Francesmary, additional, Montagna, Marco, additional, Moysich, Kirsten B., additional, Müller, Heiko, additional, Mulligan, Anna Marie, additional, Muranen, Taru A., additional, Narod, Steven A., additional, Nathanson, Katherine L., additional, Ness, Roberta B., additional, Neuhausen, Susan L., additional, Nevanlinna, Heli, additional, Neven, Patrick, additional, Nielsen, Finn C., additional, Nielsen, Sune F., additional, Nordestgaard, Børge G., additional, Nussbaum, Robert L., additional, Odunsi, Kunle, additional, Offit, Kenneth, additional, Olah, Edith, additional, Olopade, Olufunmilayo I., additional, Olson, Janet E., additional, Olson, Sara H., additional, Oosterwijk, Jan C., additional, Orlow, Irene, additional, Orr, Nick, additional, Orsulic, Sandra, additional, Osorio, Ana, additional, Ottini, Laura, additional, Paul, James, additional, Pearce, Celeste L., additional, Pedersen, Inge Sokilde, additional, Peissel, Bernard, additional, Pejovic, Tanja, additional, Pelttari, Liisa M., additional, Perkins, Jo, additional, Permuth-Wey, Jenny, additional, Peterlongo, Paolo, additional, Peto, Julian, additional, Phelan, Catherine M., additional, Phillips, Kelly-Anne, additional, Piedmonte, Marion, additional, Pike, Malcolm C., additional, Platte, Radka, additional, Plisiecka-Halasa, Joanna, additional, Poole, Elizabeth M., additional, Poppe, Bruce, additional, Pylkäs, Katri, additional, Radice, Paolo, additional, Ramus, Susan J., additional, Rebbeck, Timothy R., additional, Reed, Malcolm W.R., additional, Rennert, Gad, additional, Risch, Harvey A., additional, Robson, Mark, additional, Rodriguez, Gustavo C., additional, Romero, Atocha, additional, Rossing, Mary Anne, additional, Rothstein, Joseph H., additional, Rudolph, Anja, additional, Runnebaum, Ingo, additional, Salani, Ritu, additional, Salvesen, Helga B., additional, Sawyer, Elinor J., additional, Schildkraut, Joellen M., additional, Schmidt, Marjanka K., additional, Schmutzler, Rita K., additional, Schneeweiss, Andreas, additional, Schoemaker, Minouk J., additional, Schrauder, Michael G., additional, Schumacher, Fredrick, additional, Schwaab, Ira, additional, Scuvera, Giulietta, additional, Sellers, Thomas A., additional, Severi, Gianluca, additional, Seynaeve, Caroline M., additional, Shah, Mitul, additional, Shrubsole, Martha, additional, Siddiqui, Nadeem, additional, Sieh, Weiva, additional, Simard, Jacques, additional, Singer, Christian F., additional, Sinilnikova, Olga M., additional, Smeets, Dominiek, additional, Sohn, Christof, additional, Soller, Maria, additional, Song, Honglin, additional, Soucy, Penny, additional, Southey, Melissa C., additional, Stegmaier, Christa, additional, Stoppa-Lyonnet, Dominique, additional, Sucheston, Lara, additional, Swerdlow, Anthony, additional, Tangen, Ingvild L., additional, Tea, Muy-Kheng, additional, Teixeira, Manuel R., additional, Terry, Kathryn L., additional, Terry, Mary Beth, additional, Thomassen, Mads, additional, Thompson, Pamela J., additional, Tihomirova, Laima, additional, Tischkowitz, Marc, additional, Toland, Amanda Ewart, additional, Tollenaar, Rob A.E.M., additional, Tomlinson, Ian, additional, Torres, Diana, additional, Truong, Thérèse, additional, Tsimiklis, Helen, additional, Tung, Nadine, additional, Tworoger, Shelley S., additional, Tyrer, Jonathan P., additional, Vachon, Celine M., additional, Van 't Veer, Laura J., additional, van Altena, Anne M., additional, Van Asperen, C.J., additional, van den Berg, David, additional, van den Ouweland, Ans M.W., additional, van Doorn, Helena C., additional, Van Nieuwenhuysen, Els, additional, van Rensburg, Elizabeth J., additional, Vergote, Ignace, additional, Verhoef, Senno, additional, Vierkant, Robert A., additional, Vijai, Joseph, additional, Vitonis, Allison F., additional, von Wachenfeldt, Anna, additional, Walsh, Christine, additional, Wang, Qin, additional, Wang-Gohrke, Shan, additional, Wappenschmidt, Barbara, additional, Weischer, Maren, additional, Weitzel, Jeffrey N., additional, Weltens, Caroline, additional, Wentzensen, Nicolas, additional, Whittemore, Alice S., additional, Wilkens, Lynne R., additional, Winqvist, Robert, additional, Wu, Anna H., additional, Wu, Xifeng, additional, Yang, Hannah P., additional, Zaffaroni, Daniela, additional, Pilar Zamora, M., additional, Zheng, Wei, additional, Ziogas, Argyrios, additional, Chenevix-Trench, Georgia, additional, Pharoah, Paul D.P., additional, Rookus, Matti A., additional, Hooning, Maartje J., additional, and Goode, Ellen L., additional
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- 2016
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30. Breast cancer risk in women with PALB2 mutations in different populations
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Antoniou, Antonis C, primary, Foulkes, William D, additional, and Tischkowitz, Marc, additional
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- 2015
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31. Effect of BRCA Mutations on Metastatic Relapse and Cause-specific Survival After Radical Treatment for Localised Prostate Cancer
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Castro, Elena, primary, Goh, Chee, additional, Leongamornlert, Daniel, additional, Saunders, Ed, additional, Tymrakiewicz, Malgorzata, additional, Dadaev, Tokhir, additional, Govindasami, Koveela, additional, Guy, Michelle, additional, Ellis, Steve, additional, Frost, Debra, additional, Bancroft, Elizabeth, additional, Cole, Trevor, additional, Tischkowitz, Marc, additional, Kennedy, M. John, additional, Eason, Jacqueline, additional, Brewer, Carole, additional, Evans, D. Gareth, additional, Davidson, Rosemarie, additional, Eccles, Diana, additional, Porteous, Mary E., additional, Douglas, Fiona, additional, Adlard, Julian, additional, Donaldson, Alan, additional, Antoniou, Antonis C., additional, Kote-Jarai, Zsofia, additional, Easton, Douglas F., additional, Olmos, David, additional, and Eeles, Rosalind, additional
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- 2015
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32. Assessing and managing breast cancer risk: Clinicians' current practice and future needs
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Collins, Ian M., primary, Steel, Emma, additional, Mann, G. Bruce, additional, Emery, Jon D., additional, Bickerstaffe, Adrian, additional, Trainer, Alison, additional, Butow, Phyllis, additional, Pirotta, Marie, additional, Antoniou, Antonis C., additional, Cuzick, Jack, additional, Hopper, John, additional, Phillips, Kelly-Anne, additional, and Keogh, Louise A., additional
- Published
- 2014
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33. Common genetic variants and cancer risk in Mendelian cancer syndromes
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Antoniou, Antonis C, primary and Chenevix-Trench, Georgia, additional
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- 2010
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34. Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
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Antoniou, Antonis C., primary, Spurdle, Amanda B., additional, Sinilnikova, Olga M., additional, Healey, Sue, additional, Pooley, Karen A., additional, Schmutzler, Rita K., additional, Versmold, Beatrix, additional, Engel, Christoph, additional, Meindl, Alfons, additional, Arnold, Norbert, additional, Hofmann, Wera, additional, Sutter, Christian, additional, Niederacher, Dieter, additional, Deissler, Helmut, additional, Caldes, Trinidad, additional, Kämpjärvi, Kati, additional, Nevanlinna, Heli, additional, Simard, Jacques, additional, Beesley, Jonathan, additional, Chen, Xiaoqing, additional, Neuhausen, Susan L., additional, Rebbeck, Timothy R., additional, Wagner, Theresa, additional, Lynch, Henry T., additional, Isaacs, Claudine, additional, Weitzel, Jeffrey, additional, Ganz, Patricia A., additional, Daly, Mary B., additional, Tomlinson, Gail, additional, Olopade, Olufunmilayo I., additional, Blum, Joanne L., additional, Couch, Fergus J., additional, Peterlongo, Paolo, additional, Manoukian, Siranoush, additional, Barile, Monica, additional, Radice, Paolo, additional, Szabo, Csilla I., additional, Pereira, Lutecia H. Mateus, additional, Greene, Mark H., additional, Rennert, Gad, additional, Lejbkowicz, Flavio, additional, Barnett-Griness, Ofra, additional, Andrulis, Irene L., additional, Ozcelik, Hilmi, additional, Gerdes, Anne-Marie, additional, Caligo, Maria A., additional, Laitman, Yael, additional, Kaufman, Bella, additional, Milgrom, Roni, additional, Friedman, Eitan, additional, Domchek, Susan M., additional, Nathanson, Katherine L., additional, Osorio, Ana, additional, Llort, Gemma, additional, Milne, Roger L., additional, Benítez, Javier, additional, Hamann, Ute, additional, Hogervorst, Frans B.L., additional, Manders, Peggy, additional, Ligtenberg, Marjolijn J.L., additional, van den Ouweland, Ans M.W., additional, Peock, Susan, additional, Cook, Margaret, additional, Platte, Radka, additional, Evans, D. Gareth, additional, Eeles, Rosalind, additional, Pichert, Gabriella, additional, Chu, Carol, additional, Eccles, Diana, additional, Davidson, Rosemarie, additional, Douglas, Fiona, additional, Godwin, Andrew K., additional, Barjhoux, Laure, additional, Mazoyer, Sylvie, additional, Sobol, Hagay, additional, Bourdon, Violaine, additional, Eisinger, François, additional, Chompret, Agnès, additional, Capoulade, Corinne, additional, Bressac-de Paillerets, Brigitte, additional, Lenoir, Gilbert M., additional, Gauthier-Villars, Marion, additional, Houdayer, Claude, additional, Stoppa-Lyonnet, Dominique, additional, Chenevix-Trench, Georgia, additional, and Easton, Douglas F., additional
- Published
- 2008
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35. RAD51 135G→C Modifies Breast Cancer Risk among BRCA2 Mutation Carriers: Results from a Combined Analysis of 19 Studies
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Antoniou, Antonis C., primary, Sinilnikova, Olga M., additional, Simard, Jacques, additional, Léoné, Mélanie, additional, Dumont, Martine, additional, Neuhausen, Susan L., additional, Struewing, Jeffery P., additional, Stoppa-Lyonnet, Dominique, additional, Barjhoux, Laure, additional, Hughes, David J., additional, Coupier, Isabelle, additional, Belotti, Muriel, additional, Lasset, Christine, additional, Bonadona, Valérie, additional, Bignon, Yves-Jean, additional, Rebbeck, Timothy R., additional, Wagner, Theresa, additional, Lynch, Henry T., additional, Domchek, Susan M., additional, Nathanson, Katherine L., additional, Garber, Judy E., additional, Weitzel, Jeffrey, additional, Narod, Steven A., additional, Tomlinson, Gail, additional, Olopade, Olufunmilayo I., additional, Godwin, Andrew, additional, Isaacs, Claudine, additional, Jakubowska, Anna, additional, Lubinski, Jan, additional, Gronwald, Jacek, additional, Górski, Bohdan, additional, Byrski, Tomasz, additional, Huzarski, Tomasz, additional, Peock, Susan, additional, Cook, Margaret, additional, Baynes, Caroline, additional, Murray, Alexandra, additional, Rogers, Mark, additional, Daly, Peter A., additional, Dorkins, Huw, additional, Schmutzler, Rita K., additional, Versmold, Beatrix, additional, Engel, Christoph, additional, Meindl, Alfons, additional, Arnold, Norbert, additional, Niederacher, Dieter, additional, Deissler, Helmut, additional, Spurdle, Amanda B., additional, Chen, Xiaoqing, additional, Waddell, Nicola, additional, Cloonan, Nicole, additional, Kirchhoff, Tomas, additional, Offit, Kenneth, additional, Friedman, Eitan, additional, Kaufmann, Bella, additional, Laitman, Yael, additional, Galore, Gilli, additional, Rennert, Gad, additional, Lejbkowicz, Flavio, additional, Raskin, Leon, additional, Andrulis, Irene L., additional, Ilyushik, Eduard, additional, Ozcelik, Hilmi, additional, Devilee, Peter, additional, Vreeswijk, Maaike P.G., additional, Greene, Mark H., additional, Prindiville, Sheila A., additional, Osorio, Ana, additional, Benítez, Javier, additional, Zikan, Michal, additional, Szabo, Csilla I., additional, Kilpivaara, Outi, additional, Nevanlinna, Heli, additional, Hamann, Ute, additional, Durocher, Francine, additional, Arason, Adalgeir, additional, Couch, Fergus J., additional, Easton, Douglas F., additional, and Chenevix-Trench, Georgia, additional
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- 2007
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36. After BRCA1 and BRCA2—What Next? Multifactorial Segregation Analyses of Three-Generation, Population-Based Australian Families Affected by Female Breast Cancer
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Cui, Jisheng, primary, Antoniou, Antonis C., additional, Dite, Gillian S., additional, Southey, Melissa C., additional, Venter, Deon J., additional, Easton, Douglas F., additional, Giles, Graham G., additional, McCredie, Margaret R.E., additional, and Hopper, John L., additional
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- 2001
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37. The Contribution of Germline BRCA1 and BRCA2 Mutations to Familial Ovarian Cancer: No Evidence for Other Ovarian Cancer–Susceptibility Genes
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Gayther, Simon A., primary, Russell, Paul, additional, Harrington, Patricia, additional, Antoniou, Antonis C., additional, Easton, Douglas F., additional, and Ponder, Bruce A.J., additional
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- 1999
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38. Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
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Kramer, Iris, Hooning, Maartje J, Mavaddat, Nasim, Hauptmann, Michael, Keeman, Renske, Steyerberg, Ewout W, Giardiello, Daniele, Antoniou, Antonis C, Pharoah, Paul DP, Canisius, Sander, Abu-Ful, Zumuruda, Andrulis, Irene L, Anton-Culver, Hoda, Aronson, Kristan J, Augustinsson, Annelie, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brauch, Hiltrud, Bremer, Michael, Brucker, Sara Y, Burwinkel, Barbara, Castelao, Jose E, Chan, Tsun L, Chang-Claude, Jenny, Chanock, Stephen J, Chenevix-Trench, Georgia, Choi, Ji-Yeob, Clarke, Christine L, NBCS Collaborators, Collée, J Margriet, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dunning, Alison M, Dwek, Miriam, Eccles, Diana M, Evans, D Gareth, Fasching, Peter A, Flyger, Henrik, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A, Giles, Graham G, Goldgar, David E, González-Neira, Anna, Haiman, Christopher A, Håkansson, Niclas, Hamann, Ute, Hartman, Mikael, Heemskerk-Gerritsen, Bernadette AM, Hollestelle, Antoinette, Hopper, John L, Hou, Ming-Feng, Howell, Anthony, ABCTB Investigators, KConFab Investigators, Ito, Hidemi, Jakimovska, Milena, Jakubowska, Anna, Janni, Wolfgang, John, Esther M, Jung, Audrey, Kang, Daehee, Kets, C Marleen, Khusnutdinova, Elza, Ko, Yon-Dschun, Kristensen, Vessela N, Kurian, Allison W, Kwong, Ava, Lambrechts, Diether, Le Marchand, Loic, Li, Jingmei, Lindblom, Annika, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Matsuo, Keitaro, Mavroudis, Dimitrios, Meindl, Alfons, Milne, Roger L, Mulligan, Anna Marie, Muranen, Taru A, Neuhausen, Susan L, Nevanlinna, Heli, Newman, William G, Olshan, Andrew F, Olson, Janet E, Olsson, Håkan, Park-Simon, Tjoung-Won, Peto, Julian, Petridis, Christos, Plaseska-Karanfilska, Dijana, Presneau, Nadege, Pylkäs, Katri, Radice, Paolo, Rennert, Gad, Romero, Atocha, Roylance, Rebecca, Saloustros, Emmanouil, Sawyer, Elinor J, Schmutzler, Rita K, Schwentner, Lukas, Scott, Christopher, See, Mee-Hoong, Shah, Mitul, Shen, Chen-Yang, Shu, Xiao-Ou, Siesling, Sabine, Slager, Susan, Sohn, Christof, Southey, Melissa C, Spinelli, John J, Stone, Jennifer, Tapper, William J, Tengström, Maria, Teo, Soo Hwang, Terry, Mary Beth, Tollenaar, Rob AEM, Tomlinson, Ian, Troester, Melissa A, Vachon, Celine M, Van Ongeval, Chantal, Van Veen, Elke M, Winqvist, Robert, Wolk, Alicja, Zheng, Wei, Ziogas, Argyrios, Easton, Douglas F, Hall, Per, and Schmidt, Marjanka K
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Adult ,Multifactorial Inheritance ,Receptor, ErbB-2 ,Gene Expression ,Breast Neoplasms ,Risk Assessment ,White People ,Cohort Studies ,Asian People ,parasitic diseases ,Humans ,Genetic Predisposition to Disease ,Aged ,Proportional Hazards Models ,Genome, Human ,Estrogen Receptor alpha ,Neoplasms, Second Primary ,Middle Aged ,Prognosis ,Neoadjuvant Therapy ,3. Good health ,polygenic risk score ,contralateral breast cancer ,epidemiology ,Female ,genetic ,Receptors, Progesterone ,Genome-Wide Association Study - Abstract
Previous research has shown that polygenic risk scores (PRSs) can be used to stratify women according to their risk of developing primary invasive breast cancer. This study aimed to evaluate the association between a recently validated PRS of 313 germline variants (PRS313) and contralateral breast cancer (CBC) risk. We included 56,068 women of European ancestry diagnosed with first invasive breast cancer from 1990 onward with follow-up from the Breast Cancer Association Consortium. Metachronous CBC risk (N = 1,027) according to the distribution of PRS313 was quantified using Cox regression analyses. We assessed PRS313 interaction with age at first diagnosis, family history, morphology, ER status, PR status, and HER2 status, and (neo)adjuvant therapy. In studies of Asian women, with limited follow-up, CBC risk associated with PRS313 was assessed using logistic regression for 340 women with CBC compared with 12,133 women with unilateral breast cancer. Higher PRS313 was associated with increased CBC risk: hazard ratio per standard deviation (SD) = 1.25 (95%CI = 1.18-1.33) for Europeans, and an OR per SD = 1.15 (95%CI = 1.02-1.29) for Asians. The absolute lifetime risks of CBC, accounting for death as competing risk, were 12.4% for European women at the 10th percentile and 20.5% at the 90th percentile of PRS313. We found no evidence of confounding by or interaction with individual characteristics, characteristics of the primary tumor, or treatment. The C-index for the PRS313 alone was 0.563 (95%CI = 0.547-0.586). In conclusion, PRS313 is an independent factor associated with CBC risk and can be incorporated into CBC risk prediction models to help improve stratification and optimize surveillance and treatment strategies.
39. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
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Barnes, Daniel R, Rookus, Matti A, McGuffog, Lesley, Leslie, Goska, Mooij, Thea M, Dennis, Joe, Mavaddat, Nasim, Adlard, Julian, Ahmed, Munaza, Aittomäki, Kristiina, Andrieu, Nadine, Andrulis, Irene L, Arnold, Norbert, Arun, Banu K, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Białkowska, Katarzyna, Blanco, Amie M, Blok, Marinus J, Bonanni, Bernardo, Boonen, Susanne E, Borg, Åke, Bozsik, Aniko, Bradbury, Angela R, Brennan, Paul, Brewer, Carole, Brunet, Joan, Buys, Saundra S, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Christensen, Lise Lotte, Chung, Wendy K, Claes, Kathleen BM, Colas, Chrystelle, GEMO Study Collaborators, EMBRACE Collaborators, Collonge-Rame, Marie-Agnès, Cook, Jackie, Daly, Mary B, Davidson, Rosemarie, De La Hoya, Miguel, De Putter, Robin, Delnatte, Capucine, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M, Dorfling, Cecilia M, Dumont, Martine, Eeles, Ros, Ejlertsen, Bent, Engel, Christoph, Evans, D Gareth, Faivre, Laurence, Foretova, Lenka, Fostira, Florentia, Friedlander, Michael, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gschwantler-Kaulich, Daphne, Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hentschel, Julia, Hogervorst, Frans BL, Hooning, Maartje J, Horvath, Judit, Hu, Chunling, Hulick, Peter J, Imyanitov, Evgeny N, KConFab Investigators, HEBON Investigators, GENEPSO Investigators, Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A, Janavicius, Ramunas, John, Esther M, Joseph, Vijai, Karlan, Beth Y, Kast, Karin, Koudijs, Marco, Kruse, Torben A, Kwong, Ava, Laitman, Yael, Lasset, Christine, Lazaro, Conxi, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loud, Jennifer T, Lubiński, Jan, Mai, Phuong L, Manoukian, Siranoush, Mari, Véronique, Mebirouk, Noura, Meijers-Heijboer, Hanne EJ, Meindl, Alfons, Mensenkamp, Arjen R, Miller, Austin, Montagna, Marco, Mouret-Fourme, Emmanuelle, Mukherjee, Semanti, Mulligan, Anna Marie, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn Cilius, Nikitina-Zake, Liene, Noguès, Catherine, Olah, Edith, Olopade, Olufunmilayo I, Ong, Kai-Ren, O'Shaughnessy-Kirwan, Aoife, Osorio, Ana, Ott, Claus-Eric, Papi, Laura, Park, Sue K, Parsons, Michael T, Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Peterlongo, Paolo, Pfeiler, Georg, Phillips, Kelly-Anne, Prajzendanc, Karolina, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Ramus, Susan J, Rantala, Johanna, Rennert, Gad, Risch, Harvey A, Robson, Mark, Rønlund, Karina, Salani, Ritu, Schuster, Hélène, Senter, Leigha, Shah, Payal D, Sharma, Priyanka, Side, Lucy E, Singer, Christian F, Slavin, Thomas P, Soucy, Penny, Southey, Melissa C, Spurdle, Amanda B, Steinemann, Doris, Steinsnyder, Zoe, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R, Teo, Soo Hwang, Thull, Darcy L, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E, Trainer, Alison H, Tung, Nadine, Van Engelen, Klaartje, Van Rensburg, Elizabeth J, Vega, Ana, Vierstraete, Jeroen, Wagner, Gabriel, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N, Yadav, Siddhartha, Yang, Xin, Yannoukakos, Drakoulis, Zimbalatti, Dario, Offit, Kenneth, Thomassen, Mads, Couch, Fergus J, Schmutzler, Rita K, Simard, Jacques, Easton, Douglas F, Chenevix-Trench, Georgia, Antoniou, Antonis C, and Consortium Of Investigators Of Modifiers Of BRCA And BRCA2
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BRCA2 Protein ,Ovarian Neoplasms ,Heterozygote ,endocrine system diseases ,BRCA1 Protein ,Breast Neoplasms ,Carcinoma, Ovarian Epithelial ,PRS ,3. Good health ,breast cancer ,ovarian cancer ,BRCA1/2 ,Risk Factors ,Mutation ,Humans ,genetics ,Female ,Genetic Predisposition to Disease ,Prospective Studies ,Retrospective Studies - Abstract
PURPOSE: We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for BRCA1 and BRCA2 pathogenic variant carriers. METHODS: Retrospective cohort data on 18,935 BRCA1 and 12,339 BRCA2 female pathogenic variant carriers of European ancestry were available. Three versions of a 313 single-nucleotide polymorphism (SNP) BC PRS were evaluated based on whether they predict overall, estrogen receptor (ER)-negative, or ER-positive BC, and two PRS for overall or high-grade serous EOC. Associations were validated in a prospective cohort. RESULTS: The ER-negative PRS showed the strongest association with BC risk for BRCA1 carriers (hazard ratio [HR] per standard deviation = 1.29 [95% CI 1.25-1.33], P = 3×10-72). For BRCA2, the strongest association was with overall BC PRS (HR = 1.31 [95% CI 1.27-1.36], P = 7×10-50). HR estimates decreased significantly with age and there was evidence for differences in associations by predicted variant effects on protein expression. The HR estimates were smaller than general population estimates. The high-grade serous PRS yielded the strongest associations with EOC risk for BRCA1 (HR = 1.32 [95% CI 1.25-1.40], P = 3×10-22) and BRCA2 (HR = 1.44 [95% CI 1.30-1.60], P = 4×10-12) carriers. The associations in the prospective cohort were similar. CONCLUSION: Population-based PRS are strongly associated with BC and EOC risks for BRCA1/2 carriers and predict substantial absolute risk differences for women at PRS distribution extremes.
40. Breast cancer risk prediction using a polygenic risk score in the familial setting: a prospective study from the Breast Cancer Family Registry and kConFab
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Li, Hongyan, Feng, Bingjian, Miron, Alexander, Chen, Xiaoqing, Beesley, Jonathan, Bimeh, Emmanuella, Barrowdale, Daniel, John, Esther M, Daly, Mary B, Andrulis, Irene L, Buys, Saundra S, Kraft, Peter, KConFab Investigators, Thorne, Heather, Chenevix-Trench, Georgia, Southey, Melissa C, Antoniou, Antonis C, James, Paul A, Terry, Mary Beth, Phillips, Kelly-Anne, Hopper, John L, Mitchell, Gillian, and Goldgar, David E
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Adult ,Multifactorial Inheritance ,Breast Neoplasms ,Middle Aged ,Polymorphism, Single Nucleotide ,Risk Assessment ,3. Good health ,Risk Factors ,Humans ,Female ,Genetic Predisposition to Disease ,Registries ,Early Detection of Cancer ,Aged - Abstract
PURPOSE: This study examined the utility of sets of single-nucleotide polymorphisms (SNPs) in familial but non-BRCA-associated breast cancer (BC). METHODS: We derived a polygenic risk score (PRS) based on 24 known BC risk SNPs for 4,365 women from the Breast Cancer Family Registry and Kathleen Cuningham Consortium Foundation for Research into Familial Breast Cancer familial BC cohorts. We compared scores for women based on cancer status at baseline; 2,599 women unaffected at enrollment were followed-up for an average of 7.4 years. Cox proportional hazards regression was used to analyze the association of PRS with BC risk. The BOADICEA risk prediction algorithm was used to measure risk based on family history alone. RESULTS: The mean PRS at baseline was 2.25 (SD, 0.35) for affected women and was 2.17 (SD, 0.35) for unaffected women from combined cohorts (P < 10-6). During follow-up, 205 BC cases occurred. The hazard ratios for continuous PRS (per SD) and upper versus lower quintiles were 1.38 (95% confidence interval: 1.22-1.56) and 3.18 (95% confidence interval: 1.84-5.23) respectively. Based on their PRS-based predicted risk, management for up to 23% of women could be altered. CONCLUSION: Including BC-associated SNPs in risk assessment can provide more accurate risk prediction than family history alone and can influence recommendations for cancer screening and prevention modalities for high-risk women.Genet Med 19 1, 30-35.
41. BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors
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Lee, Andrew, Mavaddat, Nasim, Wilcox, Amber N, Cunningham, Alex P, Carver, Tim, Hartley, Simon, Babb De Villiers, Chantal, Izquierdo, Angel, Simard, Jacques, Schmidt, Marjanka K, Walter, Fiona M, Chatterjee, Nilanjan, Garcia-Closas, Montserrat, Tischkowitz, Marc, Pharoah, Paul, Easton, Douglas F, and Antoniou, Antonis C
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BRCA2 Protein ,Ovarian Neoplasms ,Multifactorial Inheritance ,BRCA1 Protein ,rare variants ,Breast Neoplasms ,Ataxia Telangiectasia Mutated Proteins ,PRS ,Polymorphism, Single Nucleotide ,Risk Assessment ,3. Good health ,risk prediction ,Checkpoint Kinase 2 ,breast cancer ,Risk Factors ,Mutation ,Humans ,BOADICEA ,Female ,Genetic Predisposition to Disease ,Genetic Testing ,Fanconi Anemia Complementation Group N Protein - Abstract
PURPOSE: Breast cancer (BC) risk prediction allows systematic identification of individuals at highest and lowest risk. We extend the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) risk model to incorporate the effects of polygenic risk scores (PRS) and other risk factors (RFs). METHODS: BOADICEA incorporates the effects of truncating variants in BRCA1, BRCA2, PALB2, CHEK2, and ATM; a PRS based on 313 single-nucleotide polymorphisms (SNPs) explaining 20% of BC polygenic variance; a residual polygenic component accounting for other genetic/familial effects; known lifestyle/hormonal/reproductive RFs; and mammographic density, while allowing for missing information. RESULTS: Among all factors considered, the predicted UK BC risk distribution is widest for the PRS, followed by mammographic density. The highest BC risk stratification is achieved when all genetic and lifestyle/hormonal/reproductive/anthropomorphic factors are considered jointly. With all factors, the predicted lifetime risks for women in the UK population vary from 2.8% for the 1st percentile to 30.6% for the 99th percentile, with 14.7% of women predicted to have a lifetime risk of ≥17
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