Standard
Prediction of breast cancer risk based on profiling with common genetic variants. / 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, Børge 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; Grenaker Alnæs, Grethe; 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; Pilar Zamora, M; Arias Perez, Jose Ignacio; Menéndez, Primitiva; Jakubowska, Anna; Lubinski, Jan; Jaworska-Bieniek, Katarzyna; Durda, Katarzyna; Bogdanova, Natalia V; Antonenkova, Natalia N; Dörk, 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; Schürmann, Peter; Bremer, Michael; Christiansen, Hans; Park-Simon, Tjoung-Won; Hillemanns, Peter; Guénel, Pascal; Truong, Thérèse; Menegaux, Florence; Sanchez, Marie; Radice, Paolo; Peterlongo, Paolo; Manoukian, Siranoush; Pensotti, Valeria; Hopper, John L; Tsimiklis, Helen; Apicella, Carmel; Southey, Melissa C; Brauch, Hiltrud; Brüning, Thomas; Ko, Yon-Dschun; Sigurdson, Alice J; Doody, Michele M; Hamann, Ute; Torres, Diana; Ulmer, Hans-Ulrich; Försti, Asta; Sawyer, Elinor J; Tomlinson, Ian; Kerin, Michael J; Miller, Nicola; Andrulis, Irene L; Knight, Julia A; Glendon, Gord; Marie Mulligan, Anna; 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; Karina Dieffenbach, Aida; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Grip, Mervi; Offit, Kenneth; Vijai, Joseph; Robson, Mark; Rau-Murthy, Rohini; Dwek, Miriam; Swann, Ruth; Annie Perkins, Katherine; Goldberg, Mark S; Labrèche, 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; González-Neira, Anna; Pita, Guillermo; Rosario Alonso, M; Álvarez, 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.
In:
National Cancer Institute. Journal (Print), Vol. 107, No. 5, djv036, 05.2015, p. 1-15.
Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
Mavaddat, N, Pharoah, PDP, Michailidou, K, Tyrer, J, Brook, MN, Bolla, MK, Wang, Q, Dennis, J, Dunning, AM, Shah, M, Luben, R, Brown, J
, Bojesen, SE, Nordestgaard, BG, Nielsen, SF, Flyger, H, Czene, K, Darabi, H, Eriksson, M, Peto, J, Dos-Santos-Silva, I, Dudbridge, F, Johnson, N, Schmidt, MK, Broeks, A, Verhoef, S, Rutgers, EJ, Swerdlow, A, Ashworth, A, Orr, N, Schoemaker, MJ, Figueroa, J, Chanock, SJ, Brinton, L, Lissowska, J, Couch, FJ, Olson, JE, Vachon, C, Pankratz, VS, Lambrechts, D, Wildiers, H, Van Ongeval, C, van Limbergen, E, Kristensen, V, Grenaker Alnæs, G, Nord, S, Borresen-Dale, A-L, Nevanlinna, H, Muranen, TA, Aittomäki, K, Blomqvist, C, Chang-Claude, J, Rudolph, A, Seibold, P, Flesch-Janys, D, Fasching, PA, Haeberle, L, Ekici, AB, Beckmann, MW, Burwinkel, B, Marme, F, Schneeweiss, A, Sohn, C, Trentham-Dietz, A, Newcomb, P, Titus, L, Egan, KM, Hunter, DJ, Lindstrom, S, Tamimi, RM, Kraft, P, Rahman, N, Turnbull, C, Renwick, A, Seal, S, Li, J, Liu, J, Humphreys, K, Benitez, J, Pilar Zamora, M, Arias Perez, JI, Menéndez, P, Jakubowska, A, Lubinski, J, Jaworska-Bieniek, K, Durda, K, Bogdanova, NV, Antonenkova, NN, Dörk, T, Anton-Culver, H, Neuhausen, SL, Ziogas, A, Bernstein, L, Devilee, P, Tollenaar, RAEM, Seynaeve, C, van Asperen, CJ, Cox, A, Cross, SS, Reed, MWR, Khusnutdinova, E, Bermisheva, M, Prokofyeva, D, Takhirova, Z, Meindl, A, Schmutzler, RK, Sutter, C, Yang, R, Schürmann, P, Bremer, M, Christiansen, H, Park-Simon, T-W, Hillemanns, P, Guénel, P, Truong, T, Menegaux, F, Sanchez, M, Radice, P, Peterlongo, P, Manoukian, S, Pensotti, V, Hopper, JL, Tsimiklis, H, Apicella, C, Southey, MC, Brauch, H, Brüning, T, Ko, Y-D, Sigurdson, AJ, Doody, MM, Hamann, U, Torres, D, Ulmer, H-U, Försti, A, Sawyer, EJ, Tomlinson, I, Kerin, MJ, Miller, N, Andrulis, IL, Knight, JA, Glendon, G, Marie Mulligan, A, Chenevix-Trench, G, Balleine, R, Giles, GG, Milne, RL, McLean, C, Lindblom, A, Margolin, S, Haiman, CA, Henderson, BE, Schumacher, F, Le Marchand, L, Eilber, U, Wang-Gohrke, S, Hooning, MJ, Hollestelle, A, van den Ouweland, AMW, Koppert, LB, Carpenter, J, Clarke, C, Scott, R, Mannermaa, A, Kataja, V, Kosma, V-M, Hartikainen, JM, Brenner, H, Arndt, V, Stegmaier, C, Karina Dieffenbach, A, Winqvist, R, Pylkäs, K, Jukkola-Vuorinen, A, Grip, M, Offit, K, Vijai, J, Robson, M, Rau-Murthy, R, Dwek, M, Swann, R, Annie Perkins, K, Goldberg, MS, Labrèche, F, Dumont, M, Eccles, DM, Tapper, WJ, Rafiq, S, John, EM, Whittemore, AS, Slager, S, Yannoukakos, D, Toland, AE, Yao, S, Zheng, W, Halverson, SL, González-Neira, A, Pita, G, Rosario Alonso, M, Álvarez, N, Herrero, D, Tessier, DC, Vincent, D, Bacot, F, Luccarini, C, Baynes, C, Ahmed, S, Maranian, M, Healey, CS, Simard, J, Hall, P, Easton, DF & Garcia-Closas, M 2015, '
Prediction of breast cancer risk based on profiling with common genetic variants',
National Cancer Institute. Journal (Print), vol. 107, no. 5, djv036, pp. 1-15.
https://doi.org/10.1093/jnci/djv036APA
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., ... Garcia-Closas, M. (2015).
Prediction of breast cancer risk based on profiling with common genetic variants.
National Cancer Institute. Journal (Print),
107(5), 1-15. [djv036].
https://doi.org/10.1093/jnci/djv036Vancouver
Mavaddat N, Pharoah PDP, Michailidou K, Tyrer J, Brook MN, Bolla MK et al.
Prediction of breast cancer risk based on profiling with common genetic variants.
National Cancer Institute. Journal (Print). 2015 May;107(5):1-15. djv036.
https://doi.org/10.1093/jnci/djv036Author
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, Børge 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 ; Grenaker Alnæs, Grethe ; 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 ; Pilar Zamora, M ; Arias Perez, Jose Ignacio ; Menéndez, Primitiva ; Jakubowska, Anna ; Lubinski, Jan ; Jaworska-Bieniek, Katarzyna ; Durda, Katarzyna ; Bogdanova, Natalia V ; Antonenkova, Natalia N ; Dörk, 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 ; Schürmann, Peter ; Bremer, Michael ; Christiansen, Hans ; Park-Simon, Tjoung-Won ; Hillemanns, Peter ; Guénel, Pascal ; Truong, Thérèse ; Menegaux, Florence ; Sanchez, Marie ; Radice, Paolo ; Peterlongo, Paolo ; Manoukian, Siranoush ; Pensotti, Valeria ; Hopper, John L ; Tsimiklis, Helen ; Apicella, Carmel ; Southey, Melissa C ; Brauch, Hiltrud ; Brüning, Thomas ; Ko, Yon-Dschun ; Sigurdson, Alice J ; Doody, Michele M ; Hamann, Ute ; Torres, Diana ; Ulmer, Hans-Ulrich ; Försti, Asta ; Sawyer, Elinor J ; Tomlinson, Ian ; Kerin, Michael J ; Miller, Nicola ; Andrulis, Irene L ; Knight, Julia A ; Glendon, Gord ; Marie Mulligan, Anna ; 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 ; Karina Dieffenbach, Aida ; Winqvist, Robert ; Pylkäs, Katri ; Jukkola-Vuorinen, Arja ; Grip, Mervi ; Offit, Kenneth ; Vijai, Joseph ; Robson, Mark ; Rau-Murthy, Rohini ; Dwek, Miriam ; Swann, Ruth ; Annie Perkins, Katherine ; Goldberg, Mark S ; Labrèche, 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 ; González-Neira, Anna ; Pita, Guillermo ; Rosario Alonso, M ; Álvarez, 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. / Prediction of breast cancer risk based on profiling with common genetic variants. In: National Cancer Institute. Journal (Print). 2015 ; Vol. 107, No. 5. pp. 1-15.
Bibtex
@article{69c617c1f94c463d9bc21d8e7162000b,
title = "Prediction of breast cancer risk based on profiling with common genetic variants",
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.",
keywords = "Adult, Aged, Biomarkers, Tumor, Breast Neoplasms, Europe, Female, Gene Expression Profiling, Gene Expression Regulation, Neoplastic, Genetic Predisposition to Disease, Genotype, Humans, Middle Aged, Odds Ratio, Polymorphism, Single Nucleotide, Predictive Value of Tests, Receptors, Estrogen, Risk Assessment, Risk Factors",
author = "Nasim Mavaddat and Pharoah, {Paul D P} and Kyriaki Michailidou and Jonathan Tyrer and Brook, {Mark N} and Bolla, {Manjeet K} and Qin Wang and Joe Dennis and Dunning, {Alison M} and Mitul Shah and Robert Luben and Judith Brown and Bojesen, {Stig E} and Nordestgaard, {B{\o}rge G} and Nielsen, {Sune F} and Henrik Flyger and Kamila Czene and Hatef Darabi and Mikael Eriksson and Julian Peto and Isabel Dos-Santos-Silva and Frank Dudbridge and Nichola Johnson and Schmidt, {Marjanka K} and Annegien Broeks and Senno Verhoef and Rutgers, {Emiel J} and Anthony Swerdlow and Alan Ashworth and Nick Orr and Schoemaker, {Minouk J} and Jonine Figueroa and Chanock, {Stephen J} and Louise Brinton and Jolanta Lissowska and Couch, {Fergus J} and Olson, {Janet E} and Celine Vachon and Pankratz, {Vernon S} and Diether Lambrechts and Hans Wildiers and {Van Ongeval}, Chantal and {van Limbergen}, Erik and Vessela Kristensen and {Grenaker Aln{\ae}s}, Grethe and Silje Nord and Anne-Lise Borresen-Dale and Heli Nevanlinna and Muranen, {Taru A} and Kristiina Aittom{\"a}ki and Carl Blomqvist and Jenny Chang-Claude and Anja Rudolph and Petra Seibold and Dieter Flesch-Janys and Fasching, {Peter A} and Lothar Haeberle and Ekici, {Arif B} and Beckmann, {Matthias W} and Barbara Burwinkel and Frederik Marme and Andreas Schneeweiss and Christof Sohn and Amy Trentham-Dietz and Polly Newcomb and Linda Titus and Egan, {Kathleen M} and Hunter, {David J} and Sara Lindstrom and Tamimi, {Rulla M} and Peter Kraft and Nazneen Rahman and Clare Turnbull and Anthony Renwick and Sheila Seal and Jingmei Li and Jianjun Liu and Keith Humphreys and Javier Benitez and {Pilar Zamora}, M and {Arias Perez}, {Jose Ignacio} and Primitiva Men{\'e}ndez and Anna Jakubowska and Jan Lubinski and Katarzyna Jaworska-Bieniek and Katarzyna Durda and Bogdanova, {Natalia V} and Antonenkova, {Natalia N} and Thilo D{\"o}rk and Hoda Anton-Culver and Neuhausen, {Susan L} and Argyrios Ziogas and Leslie Bernstein and Peter Devilee and Tollenaar, {Robert A E M} and Caroline Seynaeve and {van Asperen}, {Christi J} and Angela Cox and Cross, {Simon S} and Reed, {Malcolm W R} and Elza Khusnutdinova and Marina Bermisheva and Darya Prokofyeva and Zalina Takhirova and Alfons Meindl and Schmutzler, {Rita K} and Christian Sutter and Rongxi Yang and Peter Sch{\"u}rmann and Michael Bremer and Hans Christiansen and Tjoung-Won Park-Simon and Peter Hillemanns and Pascal Gu{\'e}nel and Th{\'e}r{\`e}se Truong and Florence Menegaux and Marie Sanchez and Paolo Radice and Paolo Peterlongo and Siranoush Manoukian and Valeria Pensotti and Hopper, {John L} and Helen Tsimiklis and Carmel Apicella and Southey, {Melissa C} and Hiltrud Brauch and Thomas Br{\"u}ning and Yon-Dschun Ko and Sigurdson, {Alice J} and Doody, {Michele M} and Ute Hamann and Diana Torres and Hans-Ulrich Ulmer and Asta F{\"o}rsti and Sawyer, {Elinor J} and Ian Tomlinson and Kerin, {Michael J} and Nicola Miller and Andrulis, {Irene L} and Knight, {Julia A} and Gord Glendon and {Marie Mulligan}, Anna and Georgia Chenevix-Trench and Rosemary Balleine and Giles, {Graham G} and Milne, {Roger L} and Catriona McLean and Annika Lindblom and Sara Margolin and Haiman, {Christopher A} and Henderson, {Brian E} and Fredrick Schumacher and {Le Marchand}, Loic and Ursula Eilber and Shan Wang-Gohrke and Hooning, {Maartje J} and Antoinette Hollestelle and {van den Ouweland}, {Ans M W} and Koppert, {Linetta B} and Jane Carpenter and Christine Clarke and Rodney Scott and Arto Mannermaa and Vesa Kataja and Veli-Matti Kosma and Hartikainen, {Jaana M} and Hermann Brenner and Volker Arndt and Christa Stegmaier and {Karina Dieffenbach}, Aida and Robert Winqvist and Katri Pylk{\"a}s and Arja Jukkola-Vuorinen and Mervi Grip and Kenneth Offit and Joseph Vijai and Mark Robson and Rohini Rau-Murthy and Miriam Dwek and Ruth Swann and {Annie Perkins}, Katherine and Goldberg, {Mark S} and France Labr{\`e}che and Martine Dumont and Eccles, {Diana M} and Tapper, {William J} and Sajjad Rafiq and John, {Esther M} and Whittemore, {Alice S} and Susan Slager and Drakoulis Yannoukakos and Toland, {Amanda E} and Song Yao and Wei Zheng and Halverson, {Sandra L} and Anna Gonz{\'a}lez-Neira and Guillermo Pita and {Rosario Alonso}, M and Nuria {\'A}lvarez and Daniel Herrero and Tessier, {Daniel C} and Daniel Vincent and Francois Bacot and Craig Luccarini and Caroline Baynes and Shahana Ahmed and Mel Maranian and Healey, {Catherine S} and Jacques Simard and Per Hall and Easton, {Douglas F} and Montserrat Garcia-Closas",
note = "{\textcopyright} The Author 2015. Published by Oxford University Press.",
year = "2015",
month = may,
doi = "10.1093/jnci/djv036",
language = "English",
volume = "107",
pages = "1--15",
journal = "National Cancer Institute. Journal (Print)",
issn = "0027-8874",
publisher = "Oxford University Press",
number = "5",
}
RIS
TY - JOUR
T1 - Prediction of breast cancer risk based on profiling with common genetic variants
AU - Mavaddat, Nasim
AU - Pharoah, Paul D P
AU - Michailidou, Kyriaki
AU - Tyrer, Jonathan
AU - Brook, Mark N
AU - Bolla, Manjeet K
AU - Wang, Qin
AU - Dennis, Joe
AU - Dunning, Alison M
AU - Shah, Mitul
AU - Luben, Robert
AU - Brown, Judith
AU - Bojesen, Stig E
AU - Nordestgaard, Børge G
AU - Nielsen, Sune F
AU - Flyger, Henrik
AU - Czene, Kamila
AU - Darabi, Hatef
AU - Eriksson, Mikael
AU - Peto, Julian
AU - Dos-Santos-Silva, Isabel
AU - Dudbridge, Frank
AU - Johnson, Nichola
AU - Schmidt, Marjanka K
AU - Broeks, Annegien
AU - Verhoef, Senno
AU - Rutgers, Emiel J
AU - Swerdlow, Anthony
AU - Ashworth, Alan
AU - Orr, Nick
AU - Schoemaker, Minouk J
AU - Figueroa, Jonine
AU - Chanock, Stephen J
AU - Brinton, Louise
AU - Lissowska, Jolanta
AU - Couch, Fergus J
AU - Olson, Janet E
AU - Vachon, Celine
AU - Pankratz, Vernon S
AU - Lambrechts, Diether
AU - Wildiers, Hans
AU - Van Ongeval, Chantal
AU - van Limbergen, Erik
AU - Kristensen, Vessela
AU - Grenaker Alnæs, Grethe
AU - Nord, Silje
AU - Borresen-Dale, Anne-Lise
AU - Nevanlinna, Heli
AU - Muranen, Taru A
AU - Aittomäki, Kristiina
AU - Blomqvist, Carl
AU - Chang-Claude, Jenny
AU - Rudolph, Anja
AU - Seibold, Petra
AU - Flesch-Janys, Dieter
AU - Fasching, Peter A
AU - Haeberle, Lothar
AU - Ekici, Arif B
AU - Beckmann, Matthias W
AU - Burwinkel, Barbara
AU - Marme, Frederik
AU - Schneeweiss, Andreas
AU - Sohn, Christof
AU - Trentham-Dietz, Amy
AU - Newcomb, Polly
AU - Titus, Linda
AU - Egan, Kathleen M
AU - Hunter, David J
AU - Lindstrom, Sara
AU - Tamimi, Rulla M
AU - Kraft, Peter
AU - Rahman, Nazneen
AU - Turnbull, Clare
AU - Renwick, Anthony
AU - Seal, Sheila
AU - Li, Jingmei
AU - Liu, Jianjun
AU - Humphreys, Keith
AU - Benitez, Javier
AU - Pilar Zamora, M
AU - Arias Perez, Jose Ignacio
AU - Menéndez, Primitiva
AU - Jakubowska, Anna
AU - Lubinski, Jan
AU - Jaworska-Bieniek, Katarzyna
AU - Durda, Katarzyna
AU - Bogdanova, Natalia V
AU - Antonenkova, Natalia N
AU - Dörk, Thilo
AU - Anton-Culver, Hoda
AU - Neuhausen, Susan L
AU - Ziogas, Argyrios
AU - Bernstein, Leslie
AU - Devilee, Peter
AU - Tollenaar, Robert A E M
AU - Seynaeve, Caroline
AU - van Asperen, Christi J
AU - Cox, Angela
AU - Cross, Simon S
AU - Reed, Malcolm W R
AU - Khusnutdinova, Elza
AU - Bermisheva, Marina
AU - Prokofyeva, Darya
AU - Takhirova, Zalina
AU - Meindl, Alfons
AU - Schmutzler, Rita K
AU - Sutter, Christian
AU - Yang, Rongxi
AU - Schürmann, Peter
AU - Bremer, Michael
AU - Christiansen, Hans
AU - Park-Simon, Tjoung-Won
AU - Hillemanns, Peter
AU - Guénel, Pascal
AU - Truong, Thérèse
AU - Menegaux, Florence
AU - Sanchez, Marie
AU - Radice, Paolo
AU - Peterlongo, Paolo
AU - Manoukian, Siranoush
AU - Pensotti, Valeria
AU - Hopper, John L
AU - Tsimiklis, Helen
AU - Apicella, Carmel
AU - Southey, Melissa C
AU - Brauch, Hiltrud
AU - Brüning, Thomas
AU - Ko, Yon-Dschun
AU - Sigurdson, Alice J
AU - Doody, Michele M
AU - Hamann, Ute
AU - Torres, Diana
AU - Ulmer, Hans-Ulrich
AU - Försti, Asta
AU - Sawyer, Elinor J
AU - Tomlinson, Ian
AU - Kerin, Michael J
AU - Miller, Nicola
AU - Andrulis, Irene L
AU - Knight, Julia A
AU - Glendon, Gord
AU - Marie Mulligan, Anna
AU - Chenevix-Trench, Georgia
AU - Balleine, Rosemary
AU - Giles, Graham G
AU - Milne, Roger L
AU - McLean, Catriona
AU - Lindblom, Annika
AU - Margolin, Sara
AU - Haiman, Christopher A
AU - Henderson, Brian E
AU - Schumacher, Fredrick
AU - Le Marchand, Loic
AU - Eilber, Ursula
AU - Wang-Gohrke, Shan
AU - Hooning, Maartje J
AU - Hollestelle, Antoinette
AU - van den Ouweland, Ans M W
AU - Koppert, Linetta B
AU - Carpenter, Jane
AU - Clarke, Christine
AU - Scott, Rodney
AU - Mannermaa, Arto
AU - Kataja, Vesa
AU - Kosma, Veli-Matti
AU - Hartikainen, Jaana M
AU - Brenner, Hermann
AU - Arndt, Volker
AU - Stegmaier, Christa
AU - Karina Dieffenbach, Aida
AU - Winqvist, Robert
AU - Pylkäs, Katri
AU - Jukkola-Vuorinen, Arja
AU - Grip, Mervi
AU - Offit, Kenneth
AU - Vijai, Joseph
AU - Robson, Mark
AU - Rau-Murthy, Rohini
AU - Dwek, Miriam
AU - Swann, Ruth
AU - Annie Perkins, Katherine
AU - Goldberg, Mark S
AU - Labrèche, France
AU - Dumont, Martine
AU - Eccles, Diana M
AU - Tapper, William J
AU - Rafiq, Sajjad
AU - John, Esther M
AU - Whittemore, Alice S
AU - Slager, Susan
AU - Yannoukakos, Drakoulis
AU - Toland, Amanda E
AU - Yao, Song
AU - Zheng, Wei
AU - Halverson, Sandra L
AU - González-Neira, Anna
AU - Pita, Guillermo
AU - Rosario Alonso, M
AU - Álvarez, Nuria
AU - Herrero, Daniel
AU - Tessier, Daniel C
AU - Vincent, Daniel
AU - Bacot, Francois
AU - Luccarini, Craig
AU - Baynes, Caroline
AU - Ahmed, Shahana
AU - Maranian, Mel
AU - Healey, Catherine S
AU - Simard, Jacques
AU - Hall, Per
AU - Easton, Douglas F
AU - Garcia-Closas, Montserrat
N1 - © The Author 2015. Published by Oxford University Press.
PY - 2015/5
Y1 - 2015/5
N2 - 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.
AB - 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.
KW - Adult
KW - Aged
KW - Biomarkers, Tumor
KW - Breast Neoplasms
KW - Europe
KW - Female
KW - Gene Expression Profiling
KW - Gene Expression Regulation, Neoplastic
KW - Genetic Predisposition to Disease
KW - Genotype
KW - Humans
KW - Middle Aged
KW - Odds Ratio
KW - Polymorphism, Single Nucleotide
KW - Predictive Value of Tests
KW - Receptors, Estrogen
KW - Risk Assessment
KW - Risk Factors
U2 - 10.1093/jnci/djv036
DO - 10.1093/jnci/djv036
M3 - Journal article
C2 - 25855707
VL - 107
SP - 1
EP - 15
JO - National Cancer Institute. Journal (Print)
JF - National Cancer Institute. Journal (Print)
SN - 0027-8874
IS - 5
M1 - djv036
ER -
