Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

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

doi:10.1371/journal.pone.0035706

Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

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

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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 =

Original language	English
Article number	e35706
Journal	PLOS ONE
Volume	7
Issue number	6
DOIs	https://doi.org/10.1371/journal.pone.0035706
Publication status	Published - 29 Jun 2012

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10.1371/journal.pone.0035706Licence: CC BY

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Kirchhoff, T., Gaudet, M. M., Antoniou, A. C., McGuffog, L., Humphreys, M. K., Dunning, A. M., Bojesen, S. E., Nordestgaard, B. G., Flyger, H., Kang, D., Yoo, K.-Y., Noh, D.-Y., Ahn, S.-H., Dork, T., Schuermann, P., Karstens, J. H., Hillemanns, P., Couch, F. J., Olson, J., ... Easton, D. F. (2012). Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2. PLOS ONE, 7(6), Article e35706. https://doi.org/10.1371/journal.pone.0035706

@article{8290822353b2434081b39645f11b349c,

title = "Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2",

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 = ",

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

year = "2012",

month = jun,

day = "29",

doi = "10.1371/journal.pone.0035706",

language = "English",

volume = "7",

journal = "PLOS ONE",

issn = "1932-6203",

publisher = "Public Library of Science",

number = "6",

}

Kirchhoff, T, Gaudet, MM, Antoniou, AC, McGuffog, L, Humphreys, MK, Dunning, AM, Bojesen, SE, Nordestgaard, BG, Flyger, H, Kang, D, Yoo, K-Y, Noh, D-Y, Ahn, S-H, Dork, T, Schuermann, P, Karstens, JH, Hillemanns, P, Couch, FJ, Olson, J, Vachon, C, Wang, X, Cox, A, Brock, I, Elliott, G, Reed, MWR, Burwinkel, B, Meindl, A, Brauch, H, Hamann, U, Ko, Y-D, Broeks, A, Schmidt, MK, Van 't Veer, LJ, Braaf, LM, Johnson, N, Fletcher, O, Gibson, L, Peto, J, Turnbull, C, Seal, S, Renwick, A, Rahman, N, Wu, P-E, Yu, J-C, Hsiung, C-N, Shen, C-Y, Southey, MC, Hopper, JL, Hammet, F, Van Dorpe, T, Dieudonne, A-S, Hatse, S, Lambrechts, D, Andrulis, IL, Bogdanova, N, Antonenkova, N, Rogov, JI, Prokofieva, D, Bermisheva, M, Khusnutdinova, E, van Asperen, CJ, Tollenaar, RAEM, Hooning, MJ, Devilee, P, Margolin, S, Lindblom, A, Milne, RL, Ignacio Arias, J, Pilar Zamora, M, Benitez, J, Severi, G, Baglietto, L, Giles, GG, Spurdle, AB, Beesley, J, Chen, X, Holland, H, Healey, S, Wang-Gohrke, S, Chang-Claude, J, Mannermaa, A, Kosma, V-M, Kauppinen, J, Kataja, V, Agnarsson, BA, Caligo, MA, Godwin, AK, Nevanlinna, H, Heikkinen, T, Fredericksen, Z, Lindor, N, Nathanson, KL, Domchek, SM, Loman, N, Karlsson, P, Askmalm, MS, Melin, B, von Wachenfeldt, A, Hogervorst, FBL, Verheus, M, Rookus, MA, Seynaeve, C, Oldenburg, RA, Ligtenberg, MJ, Ausems, MGEM, Aalfs, CM, Gille, HJP, Wijnen, JT, Garcia, EBG, Peock, S, Cook, M, Oliver, CT, Frost, D, Luccarini, C, Pichert, G, Davidson, R, Chu, C, Eccles, D, Ong, K-R, Cook, J, Douglas, F, Hodgson, S, Evans, DG, Eeles, R, Gold, B, Pharoah, PDP, Offit, K, Chenevix-Trench, G & Easton, DF 2012, '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, no. 6, e35706. https://doi.org/10.1371/journal.pone.0035706

TY - JOUR

T1 - Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

AU - Kirchhoff, Tomas

AU - Gaudet, Mia M.

AU - Antoniou, Antonis C.

AU - McGuffog, Lesley

AU - Humphreys, Manjeet K.

AU - Dunning, Alison M.

AU - Bojesen, Stig E.

AU - Nordestgaard, Borge G.

AU - Flyger, Henrik

AU - Kang, Daehee

AU - Yoo, Keun-Young

AU - Noh, Dong-Young

AU - Ahn, Sei-Hyun

AU - Dork, Thilo

AU - Schuermann, 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 - Hamann, Ute

AU - Ko, Yon-Dschun

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 - Ignacio Arias, Jose

AU - Pilar Zamora, M.

AU - Benitez, Javier

AU - Severi, Gianluca

AU - Baglietto, Laura

AU - Giles, Graham G.

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 - Garcia, Encarna B. Gomez

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 - Evans, D. Gareth

AU - Eeles, Rosalind

AU - Gold, Bert

AU - Pharoah, Paul D. P.

AU - Offit, Kenneth

AU - Chenevix-Trench, Georgia

AU - Easton, Douglas F.

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 (I-2 = 49.3%; p =

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 (I-2 = 49.3%; p =

U2 - 10.1371/journal.pone.0035706

DO - 10.1371/journal.pone.0035706

M3 - Article

C2 - 22768030

SN - 1932-6203

VL - 7

JO - PLOS ONE

JF - PLOS ONE

IS - 6

M1 - e35706

ER -

Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

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