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

T Kirchhoff; MM Gaudet; AC Antoniou; L McGuffog; MK Humphreys; AM Dunning; SE Bojesen; BG Nordestgaard; H Flyger; D Kang; KY Yoo; DY Noh; SH Ahn; T Dork; P Schurmann; JH Karstens; P Hillemanns; FJ Couch; J Olson; C Vachon; XS Wang; A Cox; I Brock; G Elliott; MWR Reed; B Burwinkel; A Meindl; H Brauch; U Hamann; YD Ko; A Broeks; Marjanka K Schmidt; LJ (Laura) van 't Veer; LM Braaf; N Johnson; O Fletcher; L Gibson; J Peto; C Turnbull; S Seal; A Renwick; N Rahman; PE Wu; JC Yu; CN Hsiung; CY Shen; MC Southey; JL Hopper; F Hammet; T Van Dorpe; AS Dieudonne; S Hatse; D Lambrechts; IL Andrulis; N Bogdanova; N Antonenkova; JI Rogov; D Prokofieva; M Bermisheva; E Khusnutdinova; CJ van Asperen; RAEM Tollenaar; Maartje Hooning; P Devilee; S Margolin; A Lindblom; RL Milne; JI Arias; MP Zamora; J Benitez; G Severi; L Baglietto; GG Giles; AB Spurdle; J Beesley; XQ Chen; H Holland; S Healey; S Wang-Gohrke; J Chang-Claude; A Mannermaa; VM Kosma; J Kauppinen; V Kataja; BA Agnarsson; MA Caligo; AK Godwin; H Nevanlinna; T Heikkinen; Z Fredericksen; N Lindor; KL Nathanson; SM Domchek; N Loman; P Karlsson; MS Askmalm; B Melin; A von Wachenfeldt; FBL Hogervorst; M Verheus; MA Rookus; Caroline Seynaeve; Rogier Oldenburg; MJ Ligtenberg; MGEM Ausems; CM Aalfs; HJP Gille; JT Wijnen; EBG Garcia; S Peock; M Cook; CT Oliver; D Frost; C Luccarini; G Pichert; R Davidson; C Chu; D Eccles; KR Ong; J Cook; F Douglas; S Hodgson; DG Evans; R Eeles; B Gold; PDP Pharoah; K Offit; G Chenevix-Trench; DF 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

T Kirchhoff, MM Gaudet, AC Antoniou, L McGuffog, MK Humphreys, AM Dunning, SE Bojesen, BG Nordestgaard, H Flyger, D Kang, KY Yoo, DY Noh, SH Ahn, T Dork, P Schurmann, JH Karstens, P Hillemanns, FJ Couch, J Olson, C VachonXS Wang, A Cox, I Brock, G Elliott, MWR Reed, B Burwinkel, A Meindl, H Brauch, U Hamann, YD Ko, A Broeks, Marjanka K Schmidt, LJ (Laura) van 't Veer, LM Braaf, N Johnson, O Fletcher, L Gibson, J Peto, C Turnbull, S Seal, A Renwick, N Rahman, PE Wu, JC Yu, CN Hsiung, CY Shen, MC Southey, JL Hopper, F Hammet, T Van Dorpe, AS Dieudonne, S Hatse, D Lambrechts, IL Andrulis, N Bogdanova, N Antonenkova, JI Rogov, D Prokofieva, M Bermisheva, E Khusnutdinova, CJ van Asperen, RAEM Tollenaar, Maartje Hooning, P Devilee, S Margolin, A Lindblom, RL Milne, JI Arias, MP Zamora, J Benitez, G Severi, L Baglietto, GG Giles, AB Spurdle, J Beesley, XQ Chen, H Holland, S Healey, S Wang-Gohrke, J Chang-Claude, A Mannermaa, VM Kosma, J Kauppinen, V Kataja, BA Agnarsson, MA Caligo, AK Godwin, H Nevanlinna, T Heikkinen, Z Fredericksen, N Lindor, KL Nathanson, SM Domchek, N Loman, P Karlsson, MS Askmalm, B Melin, A von Wachenfeldt, FBL Hogervorst, M Verheus, MA Rookus, Caroline Seynaeve, Rogier Oldenburg, MJ Ligtenberg, MGEM Ausems, CM Aalfs, HJP Gille, JT Wijnen, EBG Garcia, S Peock, M Cook, CT Oliver, D Frost, C Luccarini, G Pichert, R Davidson, C Chu, D Eccles, KR Ong, J Cook, F Douglas, S Hodgson, DG Evans, R Eeles, B Gold, PDP Pharoah, K Offit, G Chenevix-Trench, DF Easton

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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.

Original language	Undefined/Unknown
Journal	PLoS One (print)
Volume	7
Issue number	6
DOIs	https://doi.org/10.1371/journal.pone.0035706
Publication status	Published - 2012

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Cite this

Kirchhoff, T., Gaudet, MM., Antoniou, AC., McGuffog, L., Humphreys, MK., Dunning, AM., Bojesen, SE., Nordestgaard, BG., Flyger, H., Kang, D., Yoo, KY., Noh, DY., Ahn, SH., Dork, T., Schurmann, P., Karstens, JH., Hillemanns, P., Couch, FJ., Olson, J., ... 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 (print), 7(6). https://doi.org/10.1371/journal.pone.0035706

@article{2dc531211f594150bd0f8946d3646153,

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 = <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.",

author = "T Kirchhoff and MM Gaudet and AC Antoniou and L McGuffog and MK Humphreys and AM Dunning and SE Bojesen and BG Nordestgaard and H Flyger and D Kang and KY Yoo and DY Noh and SH Ahn and T Dork and P Schurmann and JH Karstens and P Hillemanns and FJ Couch and J Olson and C Vachon and XS Wang and A Cox and I Brock and G Elliott and MWR Reed and B Burwinkel and A Meindl and H Brauch and U Hamann and YD Ko and A Broeks and Schmidt, {Marjanka K} and {van 't Veer}, {LJ (Laura)} and LM Braaf and N Johnson and O Fletcher and L Gibson and J Peto and C Turnbull and S Seal and A Renwick and N Rahman and PE Wu and JC Yu and CN Hsiung and CY Shen and MC Southey and JL Hopper and F Hammet and {Van Dorpe}, T and AS Dieudonne and S Hatse and D Lambrechts and IL Andrulis and N Bogdanova and N Antonenkova and JI Rogov and D Prokofieva and M Bermisheva and E Khusnutdinova and {van Asperen}, CJ and RAEM Tollenaar and Maartje Hooning and P Devilee and S Margolin and A Lindblom and RL Milne and JI Arias and MP Zamora and J Benitez and G Severi and L Baglietto and GG Giles and AB Spurdle and J Beesley and XQ Chen and H Holland and S Healey and S Wang-Gohrke and J Chang-Claude and A Mannermaa and VM Kosma and J Kauppinen and V Kataja and BA Agnarsson and MA Caligo and AK Godwin and H Nevanlinna and T Heikkinen and Z Fredericksen and N Lindor and KL Nathanson and SM Domchek and N Loman and P Karlsson and MS Askmalm and B Melin and {von Wachenfeldt}, A and FBL Hogervorst and M Verheus and MA Rookus and Caroline Seynaeve and Rogier Oldenburg and MJ Ligtenberg and MGEM Ausems and CM Aalfs and HJP Gille and JT Wijnen and EBG Garcia and S Peock and M Cook and CT Oliver and D Frost and C Luccarini and G Pichert and R Davidson and C Chu and D Eccles and KR Ong and J Cook and F Douglas and S Hodgson and DG Evans and R Eeles and B Gold and PDP Pharoah and K Offit and G Chenevix-Trench and DF Easton",

year = "2012",

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

language = "Undefined/Unknown",

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, KY, Noh, DY, Ahn, SH, Dork, T, Schurmann, P, Karstens, JH, Hillemanns, P, Couch, FJ, Olson, J, Vachon, C, Wang, XS, Cox, A, Brock, I, Elliott, G, Reed, MWR, Burwinkel, B, Meindl, A, Brauch, H, Hamann, U, Ko, YD, 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, PE, Yu, JC, Hsiung, CN, Shen, CY, Southey, MC, Hopper, JL, Hammet, F, Van Dorpe, T, Dieudonne, AS, Hatse, S, Lambrechts, D, Andrulis, IL, Bogdanova, N, Antonenkova, N, Rogov, JI, Prokofieva, D, Bermisheva, M, Khusnutdinova, E, van Asperen, CJ, Tollenaar, RAEM, Hooning, M, Devilee, P, Margolin, S, Lindblom, A, Milne, RL, Arias, JI, Zamora, MP, Benitez, J, Severi, G, Baglietto, L, Giles, GG, Spurdle, AB, Beesley, J, Chen, XQ, Holland, H, Healey, S, Wang-Gohrke, S, Chang-Claude, J, Mannermaa, A, Kosma, VM, 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, R, 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, KR, 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 (print), vol. 7, no. 6. 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, T

AU - Gaudet, MM

AU - Antoniou, AC

AU - McGuffog, L

AU - Humphreys, MK

AU - Dunning, AM

AU - Bojesen, SE

AU - Nordestgaard, BG

AU - Flyger, H

AU - Kang, D

AU - Yoo, KY

AU - Noh, DY

AU - Ahn, SH

AU - Dork, T

AU - Schurmann, P

AU - Karstens, JH

AU - Hillemanns, P

AU - Couch, FJ

AU - Olson, J

AU - Vachon, C

AU - Wang, XS

AU - Cox, A

AU - Brock, I

AU - Elliott, G

AU - Reed, MWR

AU - Burwinkel, B

AU - Meindl, A

AU - Brauch, H

AU - Hamann, U

AU - Ko, YD

AU - Broeks, A

AU - Schmidt, Marjanka K

AU - van 't Veer, LJ (Laura)

AU - Braaf, LM

AU - Johnson, N

AU - Fletcher, O

AU - Gibson, L

AU - Peto, J

AU - Turnbull, C

AU - Seal, S

AU - Renwick, A

AU - Rahman, N

AU - Wu, PE

AU - Yu, JC

AU - Hsiung, CN

AU - Shen, CY

AU - Southey, MC

AU - Hopper, JL

AU - Hammet, F

AU - Van Dorpe, T

AU - Dieudonne, AS

AU - Hatse, S

AU - Lambrechts, D

AU - Andrulis, IL

AU - Bogdanova, N

AU - Antonenkova, N

AU - Rogov, JI

AU - Prokofieva, D

AU - Bermisheva, M

AU - Khusnutdinova, E

AU - van Asperen, CJ

AU - Tollenaar, RAEM

AU - Hooning, Maartje

AU - Devilee, P

AU - Margolin, S

AU - Lindblom, A

AU - Milne, RL

AU - Arias, JI

AU - Zamora, MP

AU - Benitez, J

AU - Severi, G

AU - Baglietto, L

AU - Giles, GG

AU - Spurdle, AB

AU - Beesley, J

AU - Chen, XQ

AU - Holland, H

AU - Healey, S

AU - Wang-Gohrke, S

AU - Chang-Claude, J

AU - Mannermaa, A

AU - Kosma, VM

AU - Kauppinen, J

AU - Kataja, V

AU - Agnarsson, BA

AU - Caligo, MA

AU - Godwin, AK

AU - Nevanlinna, H

AU - Heikkinen, T

AU - Fredericksen, Z

AU - Lindor, N

AU - Nathanson, KL

AU - Domchek, SM

AU - Loman, N

AU - Karlsson, P

AU - Askmalm, MS

AU - Melin, B

AU - von Wachenfeldt, A

AU - Hogervorst, FBL

AU - Verheus, M

AU - Rookus, MA

AU - Seynaeve, Caroline

AU - Oldenburg, Rogier

AU - Ligtenberg, MJ

AU - Ausems, MGEM

AU - Aalfs, CM

AU - Gille, HJP

AU - Wijnen, JT

AU - Garcia, EBG

AU - Peock, S

AU - Cook, M

AU - Oliver, CT

AU - Frost, D

AU - Luccarini, C

AU - Pichert, G

AU - Davidson, R

AU - Chu, C

AU - Eccles, D

AU - Ong, KR

AU - Cook, J

AU - Douglas, F

AU - Hodgson, S

AU - Evans, DG

AU - Eeles, R

AU - Gold, B

AU - Pharoah, PDP

AU - Offit, K

AU - Chenevix-Trench, G

AU - Easton, DF

PY - 2012

Y1 - 2012

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 = <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 (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.

U2 - 10.1371/journal.pone.0035706

DO - 10.1371/journal.pone.0035706

M3 - Article

VL - 7

JO - PLoS ONE

JF - PLoS ONE

SN - 1932-6203

IS - 6

ER -