Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants
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2015-04-02Autor(es)
Mavaddat, NasimPharoah, Paul D.P.
Michailidou, Kyriaki
Tyrer, Jonathan
Bolla, Manjeet K.
Wang, Qin
Dennis, Joe
Dunning, Alison Margaret
Shah, Mitul N.
Luben, Robert N.
Brown, Judith
Bojesen, Stig Egil
Nordestgaard, Børge Gørnne
Nielsen, Sune Fallgaard
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
Th Rutgers, Emiel J.
Swerdlow, Anthony J.
Ashworth, Alan A.
Orr, Nick J.
Schoemaker, Minouk J.
Figueroa, Jonine D.
Chanock, Stephen J.
Brinton, Louise Annette
Lissowska, Jolanta
Olson, Janet E.
Vachon, Celine M.
Pankratz, Vernon S.
Lambrechts, Diether
Wildiers, Hans
Van Ongeval, Chantal
Van Limbergen, Erik
Kristensen, Vessela N.
Grenaker-Alnæs, Grethe Irene
Nord, Silje H.
Børresen-Dale, Anne Lise
Nevanlinna, Heli A.
Muranen, Taru A.
Blomqvist, Carl
Chang-Claude, Jenny C.
Rudolph, Anja
Seibold, Petra
Flesch-Janys, Dieter
Fasching, Peter A.
Haeberle, Lothar
Ekici, Arif B.
Beckmann, Matthias W.
Burwinkel, Barbara
Marmé, Frederik
Schneeweiss, Andreas
Sohn, Christof
Trentham-Dietz, Amy
Newcomb, Polly A.
Titus-Ernstoff, Linda T.
Egan, Kathleen Marie
Hunter, David John
Lindström, Sara
Tamimi, Rulla M.
Kraft, Peter
Rahman, Nazneen
Turnbull, Clare A.
Renwick, Anthony
Seal, Sheila
Li, Jingmei
Liu, Jianjun
Humphreys, Keith
Benitez, Javier
Zamora, M. Pilar
Arias-Pérez, José Ignacio
Menéndez, Primitiva C.
Jakubowska, Anna
Lubiński, Jan A.
Jaworska-Bieniek, Katarzyna
Durda, Katarzyna M.
Bogdanova, Natalia Valerijevna
Antonenkova, Natalia Nikolaevna
Dörk, Thilo
Anton-Culver, Hoda
Neuhausen, Susan L.
Ziogas, Argyrios
Bernstein, Leslie R.
Devilee, Peter
Tollenaar, Rob A. E. M.
Seynaeve, Caroline M.
van Asperen, Christi J.
Cox, Angela
Cross, Simon S.
Reed, Malcolm WR
Khusnutdinova, Elza Kh
Bermisheva, Marina A.
Prokofyeva, Darya S.
Takhirova, Zalina R.
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
Ménégaux, Florence
Sanchez, Marie
Radice, Paolo
Peterlongo, Paolo
Manoukian, Siranoush
Pensotti, Valeria
Hopper, John Llewelyn
Tsimiklis, Helen
Apicella, Carmel
Southey, Melissa C.
Brauch, Hiltrud B.
Brüning, Thomas
Ko, Yon Dschun
Sigurdson, Alice J.
Doody, Michele Morin
Hamann, Ute
Ulmer, Hans Ulrich
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 L.
Giles, Graham G.
Milne, Roger L.
McLean, Catriona
Lindblom, Annika
Margolin, Sara
Haiman, Christopher A.
Henderson, Brian E.
Schumacher, Fredrick R.
Marchand, Loïc Le
Eilber, Ursula
Wang-Gohrke, Shan
Hooning, Maartje Joanneke
Hollestelle, Antoinette
van den Ouweland, Ans M.W.
Koppert, Linetta B.
Carpenter, Jane E.
Clarke, Christine L.
Scott, Rodney J.
Mannermaa, Arto
Kataja, Vesa V.
Kosma, Veli Matti
Hartikainen, Jaana M.
Brenner, Hermann
Arndt, Volker R.
Stegmaier, Christa
Dieffenbach, Aida Karina
Winqvist, Robert
Pylkäs, Katri
Jukkola-Vuorinen, Arja
Grip, Mervi
Offit, Kenneth
Vijai, Joseph
Robson, Mark E.
Rau-Murthy, Rohini
Dwek, Miriam Victoria
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 L.
Yannoukakos, Drakoulis
Toland, Amanda Ewart
Yao, Song
Zheng, Wei
González-Neira, Anna
Pita, Guillermo
Alonso, María Rosario
Álvarez, Nuria
Herrero, Daniel
Tessier, Daniel C.
Vincent, Daniel
Bacot, François
Luccarini, Craig
Baynes, Caroline
Ahmed, Shahana
Maranian, Mel J.
Healey, Catherine S.
Simard, Jacques
Hall, Per
Easton, Douglas F.
García-Closas, Montserrat
Brook, Mark N.
Couch, Fergus J.
Aittomäki, Kristiina A.U.
Torres López, Diana María
Försti, Asta
Halverson, Sandra L.
Autor(es) Corporativo(s)
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana
Tipo
Artículo de revista
ISSN
0027-8874 / 1460-2105 (Electrónico)
Páginas
1-15
Tipo de artículo
Artículo original
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Título en inglés
Prediction of Breast Cancer Risk Based on Profiling With Common Genetic VariantsAbstract
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.
Enlace al recurso
https://academic.oup.com/jnci/article/107/5/djv036/891009Fuente
JNCI : Journal of the National Cancer Institute; Vol. 107 Núm. 5 (2015)
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