Résumé
A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, 10, and 11. To provide more reliable estimates of the relative risk associated with these loci and investigate possible heterogeneity by subtype of breast cancer, we genotyped the variants rs2380205, rs1011970, rs704010, rs614367, and rs10995190 in 39 studies from the Breast Cancer Association Consortium (BCAC), involving 49,608 cases and 48,772 controls of predominantly European ancestry. Four of the variants showed clear evidence of association (P ≤ 3 × 10-9) and weak evidence was observed for rs2380205 (P = 0.06). The strongest evidence was obtained for rs614367, located on 11q13 (per-allele odds ratio 1.21, P = 4 × 10-39). The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest for ER plus progesterone receptor (PR)-positive breast cancer, whereas the associations for the other three loci did not differ by tumor subtype.
langue originale | Anglais |
---|---|
Pages (de - à) | 1123-1132 |
Nombre de pages | 10 |
journal | Human Mutation |
Volume | 33 |
Numéro de publication | 7 |
Les DOIs | |
état | Publié - 1 juil. 2012 |
Modification externe | Oui |
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Dans: Human Mutation, Vol 33, Numéro 7, 01.07.2012, p. 1123-1132.
Résultats de recherche: Contribution à un journal › Article › Revue par des pairs
TY - JOUR
T1 - 11q13 is a susceptibility locus for hormone receptor positive breast cancer
AU - Lambrechts, Diether
AU - Truong, Therese
AU - Justenhoven, Christina
AU - Humphreys, Manjeet K.
AU - Wang, Jean
AU - Hopper, John L.
AU - Dite, Gillian S.
AU - Apicella, Carmel
AU - Southey, Melissa C.
AU - Schmidt, Marjanka K.
AU - Broeks, Annegien
AU - Cornelissen, Sten
AU - van Hien, Richard
AU - Sawyer, Elinor
AU - Tomlinson, Ian
AU - Kerin, Michael
AU - Miller, Nicola
AU - Milne, Roger L.
AU - Zamora, M. Pilar
AU - Pérez, José Ignacio Arias
AU - Benítez, Javier
AU - Hamann, Ute
AU - Ko, Yon Dschun
AU - Brüning, Thomas
AU - Chang-Claude, Jenny
AU - Eilber, Ursel
AU - Hein, Rebecca
AU - Nickels, Stefan
AU - Flesch-Janys, Dieter
AU - Wang-Gohrke, Shan
AU - John, Esther M.
AU - Miron, Alexander
AU - Winqvist, Robert
AU - Pylkäs, Katri
AU - Jukkola-Vuorinen, Arja
AU - Grip, Mervi
AU - Chenevix-Trench, Georgia
AU - Beesley, Jonathan
AU - Chen, Xiaoqing
AU - Investigators, k. Con Fab
AU - Menegaux, Florence
AU - Cordina-Duverger, Emilie
AU - Shen, Chen Yang
AU - Yu, Jyh Cherng
AU - Wu, Pei Ei
AU - Hou, Ming Feng
AU - Andrulis, Irene L.
AU - Selander, Teresa
AU - Glendon, Gord
AU - Mulligan, Anna Marie
AU - Anton-Culver, Hoda
AU - Ziogas, Argyrios
AU - Muir, Kenneth R.
AU - Lophatananon, Artitaya
AU - Rattanamongkongul, Suthee
AU - Puttawibul, Puttisak
AU - Jones, Michael
AU - Orr, Nicholas
AU - Ashworth, Alan
AU - Swerdlow, Anthony
AU - Severi, Gianluca
AU - Baglietto, Laura
AU - Giles, Graham
AU - Marmé, Federik
AU - Schneeweiss, Andreas
AU - Sohn, Christof
AU - Burwinkel, Barbara
AU - Yesilyurt, Betul T.
AU - Neven, Patrick
AU - Paridaens, Robert
AU - Wildiers, Hans
AU - Brenner, Hermann
AU - Müller, Heiko
AU - Arndt, Volker
AU - Stegmaier, Christa
AU - Meindl, Alfons
AU - Schott, Sarah
AU - Bartram, Claus R.
AU - Schmutzler, Rita K.
AU - Cox, Angela
AU - Brock, Ian W.
AU - Elliott, Graeme
AU - Cross, Simon S.
AU - Fasching, Peter A.
AU - Schulz-Wendtland, Ruediger
AU - Ekici, Arif B.
AU - Beckmann, Matthias W.
AU - Fletcher, Olivia
AU - Johnson, Nichola
AU - Silva, Isabel dos Santos
AU - Peto, Julian
AU - Nevanlinna, Heli
AU - Muranen, Taru A.
AU - Aittomäki, Kristiina
AU - Blomqvist, Carl
AU - Dörk, Thilo
AU - Schürmann, Peter
AU - Bremer, Michael
AU - Hillemanns, Peter
AU - Bogdanova, Natalia V.
AU - Antonenkova, Natalia N.
AU - Rogov, Yuri I.
AU - Karstens, Johann H.
AU - Khusnutdinova, Elza
AU - Bermisheva, Marina
AU - Prokofieva, Darya
AU - Gancev, Shamil
AU - Jakubowska, Anna
AU - Lubinski, Jan
AU - Jaworska, Katarzyna
AU - Durda, Katarzyna
AU - Nordestgaard, Børge G.
AU - Bojesen, Stig E.
AU - Lanng, Charlotte
AU - Mannermaa, Arto
AU - Kataja, Vesa
AU - Kosma, Veli Matti
AU - Hartikainen, Jaana M.
AU - Radice, Paolo
AU - Peterlongo, Paolo
AU - Manoukian, Siranoush
AU - Bernard, Loris
AU - Couch, Fergus J.
AU - Olson, Janet E.
AU - Wang, Xianshu
AU - Fredericksen, Zachary
AU - Alnæs, Grethe Grenaker
AU - Kristensen, Vessela
AU - Børresen-Dale, Anne Lise
AU - Devilee, Peter
AU - Tollenaar, Robert A.E.M.
AU - Seynaeve, Caroline M.
AU - Hooning, Maartje J.
AU - García-Closas, Montserrat
AU - Chanock, Stephen J.
AU - Lissowska, Jolanta
AU - Sherman, Mark E.
AU - Hall, Per
AU - Liu, Jianjun
AU - Czene, Kamila
AU - Kang, Daehee
AU - Yoo, Keun Young
AU - Noh, Dong Young
AU - Lindblom, Annika
AU - Margolin, Sara
AU - Dunning, Alison M.
AU - Pharoah, Paul D.P.
AU - Easton, Douglas F.
AU - Guénel, Pascal
AU - Brauch, Hiltrud
PY - 2012/7/1
Y1 - 2012/7/1
N2 - A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, 10, and 11. To provide more reliable estimates of the relative risk associated with these loci and investigate possible heterogeneity by subtype of breast cancer, we genotyped the variants rs2380205, rs1011970, rs704010, rs614367, and rs10995190 in 39 studies from the Breast Cancer Association Consortium (BCAC), involving 49,608 cases and 48,772 controls of predominantly European ancestry. Four of the variants showed clear evidence of association (P ≤ 3 × 10-9) and weak evidence was observed for rs2380205 (P = 0.06). The strongest evidence was obtained for rs614367, located on 11q13 (per-allele odds ratio 1.21, P = 4 × 10-39). The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest for ER plus progesterone receptor (PR)-positive breast cancer, whereas the associations for the other three loci did not differ by tumor subtype.
AB - A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, 10, and 11. To provide more reliable estimates of the relative risk associated with these loci and investigate possible heterogeneity by subtype of breast cancer, we genotyped the variants rs2380205, rs1011970, rs704010, rs614367, and rs10995190 in 39 studies from the Breast Cancer Association Consortium (BCAC), involving 49,608 cases and 48,772 controls of predominantly European ancestry. Four of the variants showed clear evidence of association (P ≤ 3 × 10-9) and weak evidence was observed for rs2380205 (P = 0.06). The strongest evidence was obtained for rs614367, located on 11q13 (per-allele odds ratio 1.21, P = 4 × 10-39). The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest for ER plus progesterone receptor (PR)-positive breast cancer, whereas the associations for the other three loci did not differ by tumor subtype.
KW - 11q13
KW - Breast cancer susceptibility
KW - Genome-wide association
KW - Hormone receptor status
KW - Polymorphisms
KW - Risk factors
UR - http://www.scopus.com/inward/record.url?scp=84861862129&partnerID=8YFLogxK
U2 - 10.1002/humu.22089
DO - 10.1002/humu.22089
M3 - Article
C2 - 22461340
AN - SCOPUS:84861862129
SN - 1059-7794
VL - 33
SP - 1123
EP - 1132
JO - Human Mutation
JF - Human Mutation
IS - 7
ER -