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Title: Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor-Positive, Lower Grade Breast Cancer
Authors: Milne, Roger L ×
Goode, Ellen L
García-Closas, Montserrat
Couch, Fergus J
Severi, Gianluca
Hein, Rebecca
Fredericksen, Zachary
Malats, Núria
Zamora, M Pilar
Pérez, Jose Ignacio Arias
Benítez, Javier
Dörk, Thilo
Schürmann, Peter
Karstens, Johann H
Hillemanns, Peter
Cox, Angela
Brock, Ian W
Elliot, Graeme
Cross, Simon S
Seal, Sheila
Turnbull, Clare
Renwick, Anthony
Rahman, Nazneen
Shen, Chen-Yang
Yu, Jyh-Cherng
Huang, Chiun-Sheng
Hou, Ming-Feng
Nordestgaard, Børge G
Bojesen, Stig E
Lanng, Charlotte
Alnæs, Grethe Grenaker
Kristensen, Vessela
Børrensen-Dale, Anne-Lise
Hopper, John L
Dite, Gillian S
Apicella, Carmel
Southey, Melissa C
Lambrechts, Diether
Yesilyurt, Betül T
Floris, Guiseppe
Leunen, Karin
Sangrajrang, Suleeporn
Gaborieau, Valerie
Brennan, Paul
McKay, James
Chang-Claude, Jenny
Wang-Gohrke, Shan
Radice, Paolo
Peterlongo, Paolo
Manoukian, Siranoush
Barile, Monica
Giles, Graham G
Baglietto, Laura
John, Esther M
Miron, Alexander
Chanock, Stephen J
Lissowska, Jolanta
Sherman, Mark E
Figueroa, Jonine D
Bogdanova, Natalia V
Antonenkova, Natalia N
Zalutsky, Iosif V
Rogov, Yuri I
Fasching, Peter A
Bayer, Christian M
Ekici, Arif B
Beckmann, Matthias W
Brenner, Hermann
Müller, Heiko
Arndt, Volker
Stegmaier, Christa
Andrulis, Irene L
Knight, Julia A
Glendon, Gord
Mulligan, Anna Marie
Mannermaa, Arto
Kataja, Vesa
Kosma, Veli-Matti
Hartikainen, Jaana M
Meindl, Alfons
Heil, Joerg
Bartram, Claus R
Schmutzler, Rita K
Thomas, Gilles D
Hoover, Robert N
Fletcher, Olivia
Gibson, Lorna J
Dos Santos Silva, Isabel
Peto, Julian
Nickels, Stefan
Flesch-Janys, Dieter
Anton-Culver, Hoda
Ziogas, Argyrios
Sawyer, Elinor
Tomlinson, Ian
Kerin, Michael
Miller, Nicola
Schmidt, Marjanka K
Broeks, Annegien
Van 't Veer, Laura J
Tollenaar, Rob A E M
Pharoah, Paul D P
Dunning, Alison M
Pooley, Karen A
Marme, Frederik
Schneeweiss, Andreas
Sohn, Christof
Burwinkel, Barbara
Jakubowska, Anna
Lubinski, Jan
Jaworska, Katarzyna
Durda, Katarzyna
Kang, Daehee
Yoo, Keun-Young
Noh, Dong-Young
Ahn, Sei-Hyun
Hunter, David J
Hankinson, Susan E
Kraft, Peter
Lindstrom, Sara
Chen, Xiaoqing
Beesley, Jonathan
Hamann, Ute
Harth, Volker
Justenhoven, Christina
for the GENICA Network
Winqvist, Robert
Pylkäs, Katri
Jukkola-Vuorinen, Arja
Grip, Mervi
Hooning, Maartje
Hollestelle, Antoinette
Oldenburg, Rogier A
Tilanus-Linthorst, Madeleine
Khusnutdinova, Elza
Bermisheva, Marina
Prokofieva, Darya
Farahtdinova, Albina
Olson, Janet E
Wang, Xianshu
Humphreys, Manjeet K
Wang, Qin
Chenevix-Trench, Georgia
for the kConFab Investigators and the AOCS Group
Easton, Douglas F #
Issue Date: Oct-2011
Publisher: American Association for Cancer Research
Series Title: Cancer Epidemiology, Biomarkers & Prevention vol:20 issue:10 pages:2222-2231
Abstract: BACKGROUND: The single-nucleotide polymorphism (SNP) 5p12-rs10941679 has been found to be associated with risk of breast cancer, particularly estrogen receptor (ER)-positive disease. We aimed to further explore this association overall, and by tumor histopathology, in the Breast Cancer Association Consortium. METHODS: Data were combined from 37 studies, including 40,972 invasive cases, 1,398 cases of ductal carcinoma in situ (DCIS), and 46,334 controls, all of white European ancestry, as well as 3,007 invasive cases and 2,337 controls of Asian ancestry. Associations overall and by tumor invasiveness and histopathology were assessed using logistic regression. RESULTS: For white Europeans, the per-allele OR associated with 5p12-rs10941679 was 1.11 (95% CI = 1.08-1.14, P = 7 × 10(-18)) for invasive breast cancer and 1.10 (95% CI = 1.01-1.21, P = 0.03) for DCIS. For Asian women, the estimated OR for invasive disease was similar (OR = 1.07, 95%CI = 0.99-1.15, P = 0.09). Further analyses suggested that the association in white Europeans was largely limited to progesterone receptor (PR)-positive disease (per-allele OR = 1.16, 95% CI = 1.12-1.20, P = 1 × 10(-18) vs. OR = 1.03, 95% CI = 0.99-1.07, P = 0.2 for PR-negative disease; P(heterogeneity) = 2 × 10(-7)); heterogeneity by ER status was not observed (P = 0.2) once PR status was accounted for. The association was also stronger for lower grade tumors [per-allele OR (95% CI) = 1.20 (1.14-1.25), 1.13 (1.09-1.16), and 1.04 (0.99-1.08) for grade 1, 2, and 3/4, respectively; P(trend) = 5 × 10(-7)]. CONCLUSION: 5p12 is a breast cancer susceptibility locus for PR-positive, lower grade breast cancer. Impact: Multicenter fine-mapping studies of this region are needed as a first step to identifying the causal variant or variants. Cancer Epidemiol Biomarkers Prev; ©2011 AACR.
URI: 
ISSN: 1055-9965
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory of Translational Genetics (Vesalius Research Center) (+)
Translational Cell & Tissue Research
Vesalius Research Centre (-)
× corresponding author
# (joint) last author

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