Résumé
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 (I2 = 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.
langue originale | Anglais |
---|---|
Numéro d'article | e35706 |
journal | PLoS ONE |
Volume | 7 |
Numéro de publication | 6 |
Les DOIs | |
état | Publié - 29 juin 2012 |
Modification externe | Oui |
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Dans: PLoS ONE, Vol 7, Numéro 6, e35706, 29.06.2012.
Résultats de recherche: Contribution à un journal › Article › Revue par des pairs
TY - JOUR
T1 - Breast cancer risk and 6q22.33
T2 - Combined results from breast cancer association consortium and consortium of investigators on modifiers of brca1/2
AU - Kirchhoff, Tomas
AU - Offit, Kenneth
AU - Gaudet, Mia M.
AU - Pharoah, Paul D.P.
AU - Easton, Douglas F.
AU - Antoniou, Antonis C.
AU - Mcguffog, Lesley
AU - Humphreys, Manjeet K.
AU - Dunning, Alison M.
AU - Bojesen, Stig E.
AU - Nordestgaard, Børge G.
AU - Flyger, Henrik
AU - Kang, Daehee
AU - Yoo, Keun Young
AU - Noh, Dong Young
AU - Ahn, Sei Hyun
AU - Dork, Thilo
AU - Schürmann, Peter
AU - Karstens, Johann H.
AU - Hillemanns, Peter
AU - Couch, Fergus J.
AU - Olson, Janet
AU - Vachon, Celine
AU - Wang, Xianshu
AU - Cox, Angela
AU - Brock, Ian
AU - Elliott, Graeme
AU - Reed, Malcolm W.R.
AU - Burwinkel, Barbara
AU - Meindl, Alfons
AU - Brauch, Hiltrud
AU - Justenhoven, Christina
AU - Hamann, Ute
AU - Ko, Yon Dschun
AU - Fischer, Hans Peter
AU - Brüning, Thomas
AU - Pesch, Beate
AU - Harth, Volker
AU - Rabstein, Sylvia
AU - Broeks, Annegien
AU - Schmidt, Marjanka K.
AU - Van 't Veer, Laura J.
AU - Braaf, Linde M.
AU - Johnson, Nichola
AU - Fletcher, Olivia
AU - Gibson, Lorna
AU - Peto, Julian
AU - Turnbull, Clare
AU - Seal, Sheila
AU - Renwick, Anthony
AU - Rahman, Nazneen
AU - Wu, Pei Ei
AU - Yu, Jyh Cherng
AU - Hsiung, Chia Ni
AU - Shen, Chen Yang
AU - Southey, Melissa C.
AU - Hopper, John L.
AU - Hammet, Fleur
AU - van Dorpe, Thijs
AU - Dieudonne, Anne Sophie
AU - Hatse, Sigrid
AU - Lambrechts, Diether
AU - Andrulis, Irene L.
AU - Bogdanova, Natalia
AU - Antonenkova, Natalia
AU - Rogov, Juri I.
AU - Prokofieva, Daria
AU - Bermisheva, Marina
AU - Khusnutdinova, Elza
AU - van Asperen, Christi J.
AU - Tollenaar, Robert A.E.M.
AU - Hooning, Maartje J.
AU - Devilee, Peter
AU - Margolin, Sara
AU - Lindblom, Annika
AU - Milne, Roger L.
AU - Arias, José Ignacio
AU - Pilar Zamora, M.
AU - Benítez, Javier
AU - Severi, Gianluca
AU - Baglietto, Laura
AU - Giles, Graham G.
AU - Chenevix-Trench, Georgia
AU - Spurdle, Amanda B.
AU - Beesley, Jonathan
AU - Chen, Xiaoqing
AU - Holland, Helene
AU - Healey, Sue
AU - Wang-Gohrke, Shan
AU - Chang-Claude, Jenny
AU - Mannermaa, Arto
AU - Kosma, Veli Matti
AU - Kauppinen, Jaana
AU - Kataja, Vesa
AU - Agnarsson, Bjarni A.
AU - Caligo, Maria A.
AU - Godwin, Andrew K.
AU - Nevanlinna, Heli
AU - Heikkinen, Tuomas
AU - Fredericksen, Zachary
AU - Lindor, Noralane
AU - Nathanson, Katherine L.
AU - Domchek, Susan M.
AU - Loman, Niklas
AU - Karlsson, Per
AU - Askmalm, Marie Stenmark
AU - Melin, Beatrice
AU - Von Wachenfeldt, Anna
AU - Hogervorst, Frans B.L.
AU - Verheus, Martijn
AU - Rookus, Matti A.
AU - Seynaeve, Caroline
AU - Oldenburg, Rogier A.
AU - Ligtenberg, Marjolijn J.
AU - Ausems, Margreet G.E.M.
AU - Aalfs, Cora M.
AU - Gille, Hans J.P.
AU - Wijnen, Juul T.
AU - Gómez García, Encarna B.
AU - Peock, Susan
AU - Cook, Margaret
AU - Oliver, Clare T.
AU - Frost, Debra
AU - Luccarini, Craig
AU - Pichert, Gabriella
AU - Davidson, Rosemarie
AU - Chu, Carol
AU - Eccles, Diana
AU - Ong, Kai Ren
AU - Cook, Jackie
AU - Douglas, Fiona
AU - Hodgson, Shirley
AU - Gareth Evans, D.
AU - Eeles, Rosalind
AU - Gold, Bert
PY - 2012/6/29
Y1 - 2012/6/29
N2 - 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 (I2 = 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.
AB - 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 (I2 = 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.
UR - http://www.scopus.com/inward/record.url?scp=84863215020&partnerID=8YFLogxK
U2 - 10.1371/journal.pone.0035706
DO - 10.1371/journal.pone.0035706
M3 - Article
C2 - 22768030
AN - SCOPUS:84863215020
SN - 1932-6203
VL - 7
JO - PLoS ONE
JF - PLoS ONE
IS - 6
M1 - e35706
ER -