Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

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Mavaddat , N , Pharoah , P D P , Michailidou , K , Tyrer , J , Brook , M N , Bolla , M K , Wang , Q , Dennis , J , Dunning , A M , Shah , M , Luben , R , Brown , J , Bojesen , S E , Nordestgaard , B G , Nielsen , S F , Flyger , H , Czene , K , Darabi , H , Eriksson , M , Peto , J , dos-Santos-Silva , I , Dudbridge , F , Johnson , N , Schmidt , M K , Broeks , A , Verhoef , S , Rutgers , E J , Swerdlow , A , Ashworth , A , Orr , N , Schoemaker , M J , Figueroa , J , Chanock , S J , Brinton , L , Lissowska , J , Couch , F J , Olson , J E , Vachon , C , Pankratz , V S , Lambrechts , D , Wildiers , H , Van Ongeval , C , Van Limbergen , E , Kristensen , V , Alnaes , G G , Nord , S , Borresen-Dale , A-L , Nevanlinna , H , Muranen , T A , Aittomäki , K , Blomqvist , C , Chang-Claude , J , Rudolph , A , Seibold , P , Flesch-Janys , D , Fasching , P A , Haeberle , L , Ekici , A B , Beckmann , M W , Burwinkel , B , Marme , F , Schneeweiss , A , Sohn , C , Trentham-Dietz , A , Newcomb , P , Titus , L , Egan , K M , Hunter , D J , Lindstrom , S , Tamimi , R M , Kraft , P , Rahman , N , Turnbull , C , Renwick , A , Seal , S , Li , J , Liu , J , Humphreys , K , Benitez , J , Zamora , M P , Perez , J I A , Menendez , P , Jakubowska , A , Lubinski , J , Jaworska-Bieniek , K , Durda , K , Bogdanova , N V , Antonenkova , N N , Doerk , T , Anton-Culver , H , Neuhausen , S L , Ziogas , A , Bernstein , L , Devilee , P , Tollenaar , R A E M , Seynaeve , C , van Asperen , C J , Cox , A , Cross , S S , Reed , M W R , Khusnutdinova , E , Bermisheva , M , Prokofyeva , D , Takhirova , Z , Meindl , A , Schmutzler , R K , Sutter , C , Yang , R , Schuermann , P , Bremer , M , Christiansen , H , Park-Simon , T-W , Hillemanns , P , Guenel , P , Truong , T , Menegaux , F , Sanchez , M , Radice , P , Peterlongo , P , Manoukian , S , Pensotti , V , Hopper , J L , Tsimiklis , H , Apicella , C , Southey , M C , Brauch , H , Bruening , T , Ko , Y-D , Sigurdson , A J , Doody , M M , Hamann , U , Torres , D , Ulmer , H-U , Foersti , A , Sawyer , E J , Tomlinson , I , Kerin , M J , Miller , N , Andrulis , I L , Knight , J A , Glendon , G , Mulligan , A M , Chenevix-Trench , G , Balleine , R , Giles , G G , Milne , R L , McLean , C , Lindblom , A , Margolin , S , Haiman , C A , Henderson , B E , Schumacher , F , Le Marchand , L , Eilber , U , Wang-Gohrke , S , Hooning , M J , Hollestelle , A , van den Ouweland , A M W , Koppert , L B , Carpenter , J , Clarke , C , Scott , R , Mannermaa , A , Kataja , V , Kosma , V-M , Hartikainen , J M , Brenner , H , Arndt , V , Stegmaier , C , Dieffenbach , A K , Winqvist , R , Pylkaes , K , Jukkola-Vuorinen , A , Grip , M , Offit , K , Vijai , J , Robson , M , Rau-Murthy , R , Dwek , M , Swann , R , Perkins , K A , Goldberg , M S , Labreche , F , Dumont , M , Eccles , D M , Tapper , W J , Rafiq , S , John , E M , Whittemore , A S , Slager , S , Yannoukakos , D , Toland , A E , Yao , S , Zheng , W , Halverson , S L , Gonzalez-Neira , A , Pita , G , Alonso , M R , Alvarez , N , Herrero , D , Tessier , D C , Vincent , D , Bacot , F , Luccarini , C , Baynes , C , Ahmed , S , Maranian , M , Healey , C S , Simard , J , Hall , P , Easton , D F & Garcia-Closas , M 2015 , ' Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants ' , Journal of the National Cancer Institute , vol. 107 , no. 5 , 036 . https://doi.org/10.1093/jnci/djv036

Title: Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants
Author: Mavaddat, Nasim; Pharoah, Paul D. P.; Michailidou, Kyriaki; Tyrer, Jonathan; Brook, Mark N.; Bolla, Manjeet K.; Wang, Qin; Dennis, Joe; Dunning, Alison M.; Shah, Mitul; Luben, Robert; Brown, Judith; Bojesen, Stig E.; Nordestgaard, Borge G.; Nielsen, Sune F.; Flyger, Henrik; Czene, Kamila; Darabi, Hatef; Eriksson, Mikael; Peto, Julian; dos-Santos-Silva, Isabel; Dudbridge, Frank; Johnson, Nichola; Schmidt, Marjanka K.; Broeks, Annegien; Verhoef, Senno; Rutgers, Emiel J.; Swerdlow, Anthony; Ashworth, Alan; Orr, Nick; Schoemaker, Minouk J.; Figueroa, Jonine; Chanock, Stephen J.; Brinton, Louise; Lissowska, Jolanta; Couch, Fergus J.; Olson, Janet E.; Vachon, Celine; Pankratz, Vernon S.; Lambrechts, Diether; Wildiers, Hans; Van Ongeval, Chantal; Van Limbergen, Erik; Kristensen, Vessela; Alnaes, Grethe Grenaker; Nord, Silje; Borresen-Dale, Anne-Lise; Nevanlinna, Heli; Muranen, Taru A.; Aittomäki, Kristiina; Blomqvist, Carl; Chang-Claude, Jenny; Rudolph, Anja; Seibold, Petra; Flesch-Janys, Dieter; Fasching, Peter A.; Haeberle, Lothar; Ekici, Arif B.; Beckmann, Matthias W.; Burwinkel, Barbara; Marme, Frederik; Schneeweiss, Andreas; Sohn, Christof; Trentham-Dietz, Amy; Newcomb, Polly; Titus, Linda; Egan, Kathleen M.; Hunter, David J.; Lindstrom, Sara; Tamimi, Rulla M.; Kraft, Peter; Rahman, Nazneen; Turnbull, Clare; Renwick, Anthony; Seal, Sheila; Li, Jingmei; Liu, Jianjun; Humphreys, Keith; Benitez, Javier; Zamora, M. Pilar; Perez, Jose Ignacio Arias; Menendez, Primitiva; Jakubowska, Anna; Lubinski, Jan; Jaworska-Bieniek, Katarzyna; Durda, Katarzyna; Bogdanova, Natalia V.; Antonenkova, Natalia N.; Doerk, Thilo; Anton-Culver, Hoda; Neuhausen, Susan L.; Ziogas, Argyrios; Bernstein, Leslie; Devilee, Peter; Tollenaar, Robert A. E. M.; Seynaeve, Caroline; van Asperen, Christi J.; Cox, Angela; Cross, Simon S.; Reed, Malcolm W. R.; Khusnutdinova, Elza; Bermisheva, Marina; Prokofyeva, Darya; Takhirova, Zalina; Meindl, Alfons; Schmutzler, Rita K.; Sutter, Christian; Yang, Rongxi; Schuermann, Peter; Bremer, Michael; Christiansen, Hans; Park-Simon, Tjoung-Won; Hillemanns, Peter; Guenel, Pascal; Truong, Therese; Menegaux, Florence; Sanchez, Marie; Radice, Paolo; Peterlongo, Paolo; Manoukian, Siranoush; Pensotti, Valeria; Hopper, John L.; Tsimiklis, Helen; Apicella, Carmel; Southey, Melissa C.; Brauch, Hiltrud; Bruening, Thomas; Ko, Yon-Dschun; Sigurdson, Alice J.; Doody, Michele M.; Hamann, Ute; Torres, Diana; Ulmer, Hans-Ulrich; Foersti, Asta; Sawyer, Elinor J.; Tomlinson, Ian; Kerin, Michael J.; Miller, Nicola; Andrulis, Irene L.; Knight, Julia A.; Glendon, Gord; Mulligan, Anna Marie; Chenevix-Trench, Georgia; Balleine, Rosemary; Giles, Graham G.; Milne, Roger L.; McLean, Catriona; Lindblom, Annika; Margolin, Sara; Haiman, Christopher A.; Henderson, Brian E.; Schumacher, Fredrick; Le Marchand, Loic; Eilber, Ursula; Wang-Gohrke, Shan; Hooning, Maartje J.; Hollestelle, Antoinette; van den Ouweland, Ans M. W.; Koppert, Linetta B.; Carpenter, Jane; Clarke, Christine; Scott, Rodney; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M.; Brenner, Hermann; Arndt, Volker; Stegmaier, Christa; Dieffenbach, Aida Karina; Winqvist, Robert; Pylkaes, Katri; Jukkola-Vuorinen, Arja; Grip, Mervi; Offit, Kenneth; Vijai, Joseph; Robson, Mark; Rau-Murthy, Rohini; Dwek, Miriam; Swann, Ruth; Perkins, Katherine Annie; Goldberg, Mark S.; Labreche, France; Dumont, Martine; Eccles, Diana M.; Tapper, William J.; Rafiq, Sajjad; John, Esther M.; Whittemore, Alice S.; Slager, Susan; Yannoukakos, Drakoulis; Toland, Amanda E.; Yao, Song; Zheng, Wei; Halverson, Sandra L.; Gonzalez-Neira, Anna; Pita, Guillermo; Alonso, M. Rosario; Alvarez, Nuria; Herrero, Daniel; Tessier, Daniel C.; Vincent, Daniel; Bacot, Francois; Luccarini, Craig; Baynes, Caroline; Ahmed, Shahana; Maranian, Mel; Healey, Catherine S.; Simard, Jacques; Hall, Per; Easton, Douglas F.; Garcia-Closas, Montserrat
Contributor: University of Helsinki, Department of Obstetrics and Gynecology
University of Helsinki, Department of Obstetrics and Gynecology
University of Helsinki, Medicum
University of Helsinki, Clinicum
Date: 2015-05
Language: eng
Number of pages: 15
Belongs to series: Journal of the National Cancer Institute
ISSN: 0027-8874
URI: http://hdl.handle.net/10138/225101
Abstract: Background: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at different levels of breast cancer risk. Such stratification could guide preventive and screening strategies. However, empirical evidence for genetic risk stratification is lacking. Methods: We investigated the value of using 77 breast cancer-associated single nucleotide polymorphisms (SNPs) for risk stratification, in a study of 33 673 breast cancer cases and 33 381 control women of European origin. We tested all possible pair-wise multiplicative interactions and constructed a 77-SNP polygenic risk score (PRS) for breast cancer overall and by estrogen receptor (ER) status. Absolute risks of breast cancer by PRS were derived from relative risk estimates and UK incidence and mortality rates. Results: There was no strong evidence for departure from a multiplicative model for any SNP pair. Women in the highest 1% of the PRS had a three-fold increased risk of developing breast cancer compared with women in the middle quintile (odds ratio [OR] = 3.36, 95% confidence interval [CI] = 2.95 to 3.83). The ORs for ER-positive and ER-negative disease were 3.73 (95% CI = 3.24 to 4.30) and 2.80 (95% CI = 2.26 to 3.46), respectively. Lifetime risk of breast cancer for women in the lowest and highest quintiles of the PRS were 5.2% and 16.6% for a woman without family history, and 8.6% and 24.4% for a woman with a first-degree family history of breast cancer. Conclusions: The PRS stratifies breast cancer risk in women both with and without a family history of breast cancer. The observed level of risk discrimination could inform targeted screening and prevention strategies. Further discrimination may be achievable through combining the PRS with lifestyle/environmental factors, although these were not considered in this report.
Subject: GENOME-WIDE ASSOCIATION
SUSCEPTIBILITY LOCI
FAMILY-HISTORY
PREVENTION
CONSORTIUM
PROSTATE
SUBTYPES
WOMEN
3122 Cancers
3123 Gynaecology and paediatrics
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