Breast cancer risk and 6q22.33: Combined results from breast cancer association consortium and consortium of investigators on modifiers of brca1/2

Tomas Kirchhoff, Kenneth Offit, Mia M. Gaudet, Paul D P Pharoah, Douglas F. Easton, Antonis C. Antoniou, Lesley Mcguffog, Manjeet K. Humphreys, Alison M. Dunning, Stig E. Bojesen, Børge G. Nordestgaard, Henrik Flyger, Daehee Kang, Keun Young Yoo, Dong Young Noh, Sei Hyun Ahn, Thilo Dork, Peter Schürmann, Johann H. Karstens, Peter HillemannsFergus J Couch, Janet E Olson, Celine M Vachon, Xianshu Wang, Angela Cox, Ian Brock, Graeme Elliott, Malcolm W R Reed, Barbara Burwinkel, Alfons Meindl, Hiltrud Brauch, Christina Justenhoven, Ute Hamann, Yon Dschun Ko, Hans Peter Fischer, Thomas Brüning, Beate Pesch, Volker Harth, Sylvia Rabstein, 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, José Ignacio Arias, M. Pilar Zamora, Javier Benítez, Gianluca Severi, Laura Baglietto, Graham G. Giles, Georgia Chenevix-Trench, 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 Morey 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. Gómez García, 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

Research output: Contribution to journalArticle

8 Citations (Scopus)

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 (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.

Original languageEnglish (US)
Article numbere35706
JournalPLoS One
Volume7
Issue number6
DOIs
StatePublished - Jun 29 2012

Fingerprint

modifiers (genes)
breast neoplasms
Research Personnel
Breast Neoplasms
Alleles
alleles
odds ratio
Chromosomes
ancestry
Odds Ratio
Population
protective effect
chromosomes
mutation
Mutation
loci

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Kirchhoff, T., Offit, K., Gaudet, M. M., Pharoah, P. D. P., Easton, D. F., Antoniou, A. C., ... Gold, B. (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), [e35706]. https://doi.org/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. / Kirchhoff, Tomas; Offit, Kenneth; Gaudet, Mia M.; Pharoah, Paul D P; Easton, Douglas F.; 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 E; Vachon, Celine M; Wang, Xianshu; Cox, Angela; Brock, Ian; Elliott, Graeme; Reed, Malcolm W R; Burwinkel, Barbara; Meindl, Alfons; Brauch, Hiltrud; Justenhoven, Christina; Hamann, Ute; Ko, Yon Dschun; Fischer, Hans Peter; Brüning, Thomas; Pesch, Beate; Harth, Volker; Rabstein, Sylvia; 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; Pilar Zamora, M.; Benítez, Javier; Severi, Gianluca; Baglietto, Laura; Giles, Graham G.; Chenevix-Trench, Georgia; 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 Morey; Nathanson, Katherine L.; Domchek, Susan M.; Loman, Niklas; Karlsson, Per; Askmalm, Marie Stenmark; 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; Gareth Evans, D.; Eeles, Rosalind; Gold, Bert.

In: PLoS One, Vol. 7, No. 6, e35706, 29.06.2012.

Research output: Contribution to journalArticle

Kirchhoff, T, Offit, K, Gaudet, MM, Pharoah, PDP, Easton, DF, Antoniou, AC, Mcguffog, L, Humphreys, MK, Dunning, AM, Bojesen, SE, Nordestgaard, BG, Flyger, H, Kang, D, Yoo, KY, Noh, DY, Ahn, SH, Dork, T, Schürmann, P, Karstens, JH, Hillemanns, P, Couch, FJ, Olson, JE, Vachon, CM, Wang, X, Cox, A, Brock, I, Elliott, G, Reed, MWR, Burwinkel, B, Meindl, A, Brauch, H, Justenhoven, C, Hamann, U, Ko, YD, Fischer, HP, Brüning, T, Pesch, B, Harth, V, Rabstein, S, 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, MJ, Devilee, P, Margolin, S, Lindblom, A, Milne, RL, Arias, JI, Pilar Zamora, M, Benítez, J, Severi, G, Baglietto, L, Giles, GG, Chenevix-Trench, G, Spurdle, AB, Beesley, J, Chen, X, 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, NM, 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, Gómez García, EB, 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, Gareth Evans, D, Eeles, R & Gold, B 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
Kirchhoff, Tomas ; Offit, Kenneth ; Gaudet, Mia M. ; Pharoah, Paul D P ; Easton, Douglas F. ; 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 E ; Vachon, Celine M ; Wang, Xianshu ; Cox, Angela ; Brock, Ian ; Elliott, Graeme ; Reed, Malcolm W R ; Burwinkel, Barbara ; Meindl, Alfons ; Brauch, Hiltrud ; Justenhoven, Christina ; Hamann, Ute ; Ko, Yon Dschun ; Fischer, Hans Peter ; Brüning, Thomas ; Pesch, Beate ; Harth, Volker ; Rabstein, Sylvia ; 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 ; Pilar Zamora, M. ; Benítez, Javier ; Severi, Gianluca ; Baglietto, Laura ; Giles, Graham G. ; Chenevix-Trench, Georgia ; 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 Morey ; Nathanson, Katherine L. ; Domchek, Susan M. ; Loman, Niklas ; Karlsson, Per ; Askmalm, Marie Stenmark ; 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 ; Gareth Evans, D. ; Eeles, Rosalind ; Gold, Bert. / Breast cancer risk and 6q22.33 : Combined results from breast cancer association consortium and consortium of investigators on modifiers of brca1/2. In: PLoS One. 2012 ; Vol. 7, No. 6.
@article{cf59be929ca9477492bd2cfab9f83f0c,
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 (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.",
author = "Tomas Kirchhoff and Kenneth Offit and Gaudet, {Mia M.} and Pharoah, {Paul D P} and Easton, {Douglas F.} and Antoniou, {Antonis C.} and Lesley Mcguffog and Humphreys, {Manjeet K.} and Dunning, {Alison M.} and Bojesen, {Stig E.} and Nordestgaard, {B{\o}rge G.} and Henrik Flyger and Daehee Kang and Yoo, {Keun Young} and Noh, {Dong Young} and Ahn, {Sei Hyun} and Thilo Dork and Peter Sch{\"u}rmann and Karstens, {Johann H.} and Peter Hillemanns and Couch, {Fergus J} and Olson, {Janet E} and Vachon, {Celine M} 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 Christina Justenhoven and Ute Hamann and Ko, {Yon Dschun} and Fischer, {Hans Peter} and Thomas Br{\"u}ning and Beate Pesch and Volker Harth and Sylvia Rabstein 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 Wu, {Pei Ei} and Yu, {Jyh Cherng} and Hsiung, {Chia Ni} and Shen, {Chen Yang} and Southey, {Melissa C.} and Hopper, {John L.} and Fleur Hammet and {van Dorpe}, Thijs and Dieudonne, {Anne Sophie} 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 Arias, {Jos{\'e} Ignacio} and {Pilar Zamora}, M. and Javier Ben{\'i}tez and Gianluca Severi and Laura Baglietto and Giles, {Graham G.} and Georgia Chenevix-Trench 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 Kosma, {Veli Matti} 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 Lindor, {Noralane Morey} 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 {G{\'o}mez Garc{\'i}a}, {Encarna B.} 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 Ong, {Kai Ren} and Jackie Cook and Fiona Douglas and Shirley Hodgson and {Gareth Evans}, D. and Rosalind Eeles and Bert Gold",
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month = "6",
day = "29",
doi = "10.1371/journal.pone.0035706",
language = "English (US)",
volume = "7",
journal = "PLoS One",
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}

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 E

AU - Vachon, Celine M

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 Morey

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.

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