19p13.1 is a triple-negative-specific breast cancer susceptibility locus.
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19p13.1 is a triple-negative-specific breast cancer susceptibility locus. / Stevens, Kristen N; Fredericksen, Zachary; Vachon, Celine M; Wang, Xianshu; Margolin, Sara; Lindblom, Annika; Nevanlinna, Heli; Greco, Dario; Aittomäki, Kristiina; Blomqvist, Carl; Chang-Claude, Jenny; Vrieling, Alina; Flesch-Janys, Dieter; Sinn, Hans-Peter; Wang-Gohrke, Shan; Nickels, Stefan; Brauch, Hiltrud; Network, GENICA; Ko, Yon-Dschun; Fischer, Hans-Peter; Schmutzler, Rita K; Meindl, Alfons; Bartram, Claus R; Schott, Sarah; Engel, Christoph; Godwin, Andrew K; Weaver, Joellen; Pathak, Harsh B; Sharma, Priyanka; Brenner, Hermann; Müller, Heiko; Arndt, Volker; Stegmaier, Christa; Miron, Penelope; Yannoukakos, Drakoulis; Stavropoulou, Alexandra; Fountzilas, George; Gogas, Helen J; Swann, Ruth; Dwek, Miriam; Perkins, Annie; Milne, Roger L; Benítez, Javier; Zamora, María Pilar; Pérez, José Ignacio Arias; Bojesen, Stig E; Nielsen, Sune F; Nordestgaard, Børge G; Flyger, Henrik; Guénel, Pascal; Truong, Thérèse; Menegaux, Florence; Cordina-Duverger, Emilie; Burwinkel, Barbara; Marmé, Frederick; Schneeweiss, Andreas; Sohn, Christof; Sawyer, Elinor; Tomlinson, Ian; Kerin, Michael J; Peto, Julian; Johnson, Nichola; Fletcher, Olivia; Isabel, Dos Santos Silva; Fasching, Peter A; Beckmann, Matthias W; Hartmann, Arndt; Ekici, Arif B; Lophatananon, Artitaya; Muir, Kenneth; Puttawibul, Puttisak; Wiangnon, Surapon; Schmidt, Marjanka K; Broeks, Annegien; Braaf, Linde M; Rosenberg, Efraim H; Hopper, John L; Apicella, Carmel; Park, Daniel J; Southey, Melissa C; Swerdlow, Anthony J; Ashworth, Alan; Orr, Nicholas; Schoemaker, Minouk J; Anton-Culver, Hoda; Ziogas, Argyrios; Bernstein, Leslie; Dur, Christina Clarke; Shen, Chen-Yang; Yu, Jyh-Cherng; Hsu, Huan-Ming; Hsiung, Chia-Ni; Hamann, Ute; Dünnebier, Thomas; Rüdiger, Thomas; Ulmer, Hans Ulrich; Pharoah, Paul P; Dunning, Alison M; Humphreys, Manjeet K; Wang, Qin; Cox, Angela; Cross, Simon S; Reed, Malcom W; Hall, Per; Czene, Kamila; Ambrosone, Christine B; Ademuyiwa, Foluso; Hwang, Helena; Eccles, Diana M; Garcia-Closas, Montserrat; Figueroa, Jonine D; Sherman, Mark E; Lissowska, Jolanta; Devilee, Peter; Seynaeve, Caroline; Tollenaar, Rob A E M; Hooning, Maartje J; Andrulis, Irene L; Knight, Julia A; Glendon, Gord; Mulligan, Anna Marie; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Grip, Mervi; John, Esther M; Miron, Alexander; Alnæs, Grethe Grenaker; Kristensen, Vessela; Børresen-Dale, Anne-Lise; Giles, Graham G; Baglietto, Laura; McLean, Catriona A; Severi, Gianluca; Kosel, Matthew L; Pankratz, V S; Slager, Susan; Olson, Janet E; Radice, Paolo; Peterlongo, Paolo; Manoukian, Siranoush; Barile, Monica; Lambrechts, Diether; Hatse, Sigrid; Dieudonne, Anne-Sophie; Christiaens, Marie-Rose; Chenevix-Trench, Georgia; Group, AOCS; Beesley, Jonathan; Chen, Xiaoqing; Mannermaa, Arto; Kosma, Veli-Matti; Hartikainen, Jaana M; Soini, Ylermi; Easton, Douglas F; Couch, Fergus J.
in: CANCER RES, Jahrgang 72, Nr. 7, 7, 2012, S. 1795-1803.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - 19p13.1 is a triple-negative-specific breast cancer susceptibility locus.
AU - Stevens, Kristen N
AU - Fredericksen, Zachary
AU - Vachon, Celine M
AU - Wang, Xianshu
AU - Margolin, Sara
AU - Lindblom, Annika
AU - Nevanlinna, Heli
AU - Greco, Dario
AU - Aittomäki, Kristiina
AU - Blomqvist, Carl
AU - Chang-Claude, Jenny
AU - Vrieling, Alina
AU - Flesch-Janys, Dieter
AU - Sinn, Hans-Peter
AU - Wang-Gohrke, Shan
AU - Nickels, Stefan
AU - Brauch, Hiltrud
AU - Network, GENICA
AU - Ko, Yon-Dschun
AU - Fischer, Hans-Peter
AU - Schmutzler, Rita K
AU - Meindl, Alfons
AU - Bartram, Claus R
AU - Schott, Sarah
AU - Engel, Christoph
AU - Godwin, Andrew K
AU - Weaver, Joellen
AU - Pathak, Harsh B
AU - Sharma, Priyanka
AU - Brenner, Hermann
AU - Müller, Heiko
AU - Arndt, Volker
AU - Stegmaier, Christa
AU - Miron, Penelope
AU - Yannoukakos, Drakoulis
AU - Stavropoulou, Alexandra
AU - Fountzilas, George
AU - Gogas, Helen J
AU - Swann, Ruth
AU - Dwek, Miriam
AU - Perkins, Annie
AU - Milne, Roger L
AU - Benítez, Javier
AU - Zamora, María Pilar
AU - Pérez, José Ignacio Arias
AU - Bojesen, Stig E
AU - Nielsen, Sune F
AU - Nordestgaard, Børge G
AU - Flyger, Henrik
AU - Guénel, Pascal
AU - Truong, Thérèse
AU - Menegaux, Florence
AU - Cordina-Duverger, Emilie
AU - Burwinkel, Barbara
AU - Marmé, Frederick
AU - Schneeweiss, Andreas
AU - Sohn, Christof
AU - Sawyer, Elinor
AU - Tomlinson, Ian
AU - Kerin, Michael J
AU - Peto, Julian
AU - Johnson, Nichola
AU - Fletcher, Olivia
AU - Isabel, Dos Santos Silva
AU - Fasching, Peter A
AU - Beckmann, Matthias W
AU - Hartmann, Arndt
AU - Ekici, Arif B
AU - Lophatananon, Artitaya
AU - Muir, Kenneth
AU - Puttawibul, Puttisak
AU - Wiangnon, Surapon
AU - Schmidt, Marjanka K
AU - Broeks, Annegien
AU - Braaf, Linde M
AU - Rosenberg, Efraim H
AU - Hopper, John L
AU - Apicella, Carmel
AU - Park, Daniel J
AU - Southey, Melissa C
AU - Swerdlow, Anthony J
AU - Ashworth, Alan
AU - Orr, Nicholas
AU - Schoemaker, Minouk J
AU - Anton-Culver, Hoda
AU - Ziogas, Argyrios
AU - Bernstein, Leslie
AU - Dur, Christina Clarke
AU - Shen, Chen-Yang
AU - Yu, Jyh-Cherng
AU - Hsu, Huan-Ming
AU - Hsiung, Chia-Ni
AU - Hamann, Ute
AU - Dünnebier, Thomas
AU - Rüdiger, Thomas
AU - Ulmer, Hans Ulrich
AU - Pharoah, Paul P
AU - Dunning, Alison M
AU - Humphreys, Manjeet K
AU - Wang, Qin
AU - Cox, Angela
AU - Cross, Simon S
AU - Reed, Malcom W
AU - Hall, Per
AU - Czene, Kamila
AU - Ambrosone, Christine B
AU - Ademuyiwa, Foluso
AU - Hwang, Helena
AU - Eccles, Diana M
AU - Garcia-Closas, Montserrat
AU - Figueroa, Jonine D
AU - Sherman, Mark E
AU - Lissowska, Jolanta
AU - Devilee, Peter
AU - Seynaeve, Caroline
AU - Tollenaar, Rob A E M
AU - Hooning, Maartje J
AU - Andrulis, Irene L
AU - Knight, Julia A
AU - Glendon, Gord
AU - Mulligan, Anna Marie
AU - Winqvist, Robert
AU - Pylkäs, Katri
AU - Jukkola-Vuorinen, Arja
AU - Grip, Mervi
AU - John, Esther M
AU - Miron, Alexander
AU - Alnæs, Grethe Grenaker
AU - Kristensen, Vessela
AU - Børresen-Dale, Anne-Lise
AU - Giles, Graham G
AU - Baglietto, Laura
AU - McLean, Catriona A
AU - Severi, Gianluca
AU - Kosel, Matthew L
AU - Pankratz, V S
AU - Slager, Susan
AU - Olson, Janet E
AU - Radice, Paolo
AU - Peterlongo, Paolo
AU - Manoukian, Siranoush
AU - Barile, Monica
AU - Lambrechts, Diether
AU - Hatse, Sigrid
AU - Dieudonne, Anne-Sophie
AU - Christiaens, Marie-Rose
AU - Chenevix-Trench, Georgia
AU - Group, AOCS
AU - Beesley, Jonathan
AU - Chen, Xiaoqing
AU - Mannermaa, Arto
AU - Kosma, Veli-Matti
AU - Hartikainen, Jaana M
AU - Soini, Ylermi
AU - Easton, Douglas F
AU - Couch, Fergus J
PY - 2012
Y1 - 2012
N2 - The 19p13.1 breast cancer susceptibility locus is a modifier of breast cancer risk in BRCA1 mutation carriers and is also associated with the risk of ovarian cancer. Here, we investigated 19p13.1 variation and risk of breast cancer subtypes, defined by estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor-2 (HER2) status, using 48,869 breast cancer cases and 49,787 controls from the Breast Cancer Association Consortium (BCAC). Variants from 19p13.1 were not associated with breast cancer overall or with ER-positive breast cancer but were significantly associated with ER-negative breast cancer risk [rs8170 OR, 1.10; 95% confidence interval (CI), 1.05-1.15; P = 3.49 × 10(-5)] and triple-negative (ER-, PR-, and HER2-negative) breast cancer (rs8170: OR, 1.22; 95% CI, 1.13-1.31; P = 2.22 × 10(-7)). However, rs8170 was no longer associated with ER-negative breast cancer risk when triple-negative cases were excluded (OR, 0.98; 95% CI, 0.89-1.07; P = 0.62). In addition, a combined analysis of triple-negative cases from BCAC and the Triple Negative Breast Cancer Consortium (TNBCC; N = 3,566) identified a genome-wide significant association between rs8170 and triple-negative breast cancer risk (OR, 1.25; 95% CI, 1.18-1.33; P = 3.31 × 10(-13)]. Thus, 19p13.1 is the first triple-negative-specific breast cancer risk locus and the first locus specific to a histologic subtype defined by ER, PR, and HER2 to be identified. These findings provide convincing evidence that genetic susceptibility to breast cancer varies by tumor subtype and that triple-negative tumors and other subtypes likely arise through distinct etiologic pathways.
AB - The 19p13.1 breast cancer susceptibility locus is a modifier of breast cancer risk in BRCA1 mutation carriers and is also associated with the risk of ovarian cancer. Here, we investigated 19p13.1 variation and risk of breast cancer subtypes, defined by estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor-2 (HER2) status, using 48,869 breast cancer cases and 49,787 controls from the Breast Cancer Association Consortium (BCAC). Variants from 19p13.1 were not associated with breast cancer overall or with ER-positive breast cancer but were significantly associated with ER-negative breast cancer risk [rs8170 OR, 1.10; 95% confidence interval (CI), 1.05-1.15; P = 3.49 × 10(-5)] and triple-negative (ER-, PR-, and HER2-negative) breast cancer (rs8170: OR, 1.22; 95% CI, 1.13-1.31; P = 2.22 × 10(-7)). However, rs8170 was no longer associated with ER-negative breast cancer risk when triple-negative cases were excluded (OR, 0.98; 95% CI, 0.89-1.07; P = 0.62). In addition, a combined analysis of triple-negative cases from BCAC and the Triple Negative Breast Cancer Consortium (TNBCC; N = 3,566) identified a genome-wide significant association between rs8170 and triple-negative breast cancer risk (OR, 1.25; 95% CI, 1.18-1.33; P = 3.31 × 10(-13)]. Thus, 19p13.1 is the first triple-negative-specific breast cancer risk locus and the first locus specific to a histologic subtype defined by ER, PR, and HER2 to be identified. These findings provide convincing evidence that genetic susceptibility to breast cancer varies by tumor subtype and that triple-negative tumors and other subtypes likely arise through distinct etiologic pathways.
KW - Humans
KW - Female
KW - Chromosome Mapping
KW - Genetic Loci
KW - Risk
KW - Receptors, Progesterone/analysis
KW - Receptors, Estrogen/analysis
KW - Genetic Predisposition to Disease
KW - Breast Neoplasms/chemistry/genetics
KW - Chromosomes, Human, Pair 19
KW - Receptor, erbB-2/analysis
KW - Humans
KW - Female
KW - Chromosome Mapping
KW - Genetic Loci
KW - Risk
KW - Receptors, Progesterone/analysis
KW - Receptors, Estrogen/analysis
KW - Genetic Predisposition to Disease
KW - Breast Neoplasms/chemistry/genetics
KW - Chromosomes, Human, Pair 19
KW - Receptor, erbB-2/analysis
M3 - SCORING: Journal article
VL - 72
SP - 1795
EP - 1803
JO - CANCER RES
JF - CANCER RES
SN - 0008-5472
IS - 7
M1 - 7
ER -