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PMID: 22768030 Published · ppublish English

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2.

PloS one ·Vol. 7 卷 ·Vol. 6 Iss. ·2012-11-27

Kirchhoff Tomas, Gaudet Mia M, Antoniou Antonis C, McGuffog Lesley, Humphreys Manjeet K, Dunning Alison M, Bojesen Stig E, Nordestgaard Børge G, Flyger Henrik, Kang Daehee, Yoo Keun-Young, Noh Dong-Young, Ahn Sei-Hyun, Dork Thilo, Schürmann Peter, Karstens Johann H, Hillemanns Peter, Couch Fergus J, Olson Janet, Vachon Celine, Wang Xianshu, Cox Angela, Brock Ian, Elliott Graeme, Reed Malcolm W R, Burwinkel Barbara, Meindl Alfons, Brauch Hiltrud, Hamann Ute, Ko Yon-Dschun, , Broeks Annegien, Schmidt Marjanka K, Van 't Veer Laura J, Braaf Linde M, Johnson Nichola, Fletcher Olivia, Gibson Lorna, Peto Julian, Turnbull Clare, Seal Sheila, Renwick Anthony, Rahman Nazneen, Wu Pei-Ei, Yu Jyh-Cherng, Hsiung Chia-Ni, Shen Chen-Yang, Southey Melissa C, Hopper John L, Hammet Fleur, Van Dorpe Thijs, Dieudonne Anne-Sophie, Hatse Sigrid, Lambrechts Diether, Andrulis Irene L, Bogdanova Natalia, Antonenkova Natalia, Rogov Juri I, Prokofieva Daria, Bermisheva Marina, Khusnutdinova Elza, van Asperen Christi J, Tollenaar Robert A E M, Hooning Maartje J, Devilee Peter, Margolin Sara, Lindblom Annika, Milne Roger L, Arias José Ignacio, Zamora M Pilar, Benítez Javier, Severi Gianluca, Baglietto Laura, Giles Graham G, , , Spurdle Amanda B, Beesley Jonathan, Chen Xiaoqing, Holland Helene, Healey Sue, Wang-Gohrke Shan, Chang-Claude Jenny, Mannermaa Arto, Kosma Veli-Matti, Kauppinen Jaana, Kataja Vesa, Agnarsson Bjarni A, Caligo Maria A, Godwin Andrew K, Nevanlinna Heli, Heikkinen Tuomas, Fredericksen Zachary, Lindor Noralane, Nathanson Katherine L, Domchek Susan M, , Loman Niklas, Karlsson Per, Stenmark Askmalm Marie, Melin Beatrice, von Wachenfeldt Anna, , Hogervorst Frans B L, Verheus Martijn, Rookus Matti A, Seynaeve Caroline, Oldenburg Rogier A, Ligtenberg Marjolijn J, Ausems Margreet G E M, Aalfs Cora M, Gille Hans J P, Wijnen Juul T, Gómez García Encarna B, , Peock Susan, Cook Margaret, Oliver Clare T, Frost Debra, Luccarini Craig, Pichert Gabriella, Davidson Rosemarie, Chu Carol, Eccles Diana, Ong Kai-Ren, Cook Jackie, Douglas Fiona, Hodgson Shirley, Evans D Gareth, Eeles Rosalind, Gold Bert, Pharoah Paul D P, Offit Kenneth, Chenevix-Trench Georgia, Easton Douglas F,

Abstract

Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I(2) = 49.3%; p = <0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95%CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk.

Article Info
Journal
PloS one
Abbr.
PLoS One
Published
2012-11-27
Indexed
2012-07-06
Updated
2016-11-22
Language
English
Country/Region
United States
NLM ID
101285081
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