11q13 is a susceptibility locus for hormone receptor positive breast cancer

Diether Lambrechts; Therese Truong; Christina Justenhoven; Manjeet K. Humphreys; Jean Wang; John L. Hopper; Gillian S. Dite; Carmel Apicella; Melissa C. Southey; Marjanka K. Schmidt; Annegien Broeks; Sten Cornelissen; Richard van Hien; Elinor Sawyer; Ian Tomlinson; Michael Kerin; Nicola Miller; Roger L. Milne; M. Pilar Zamora; José Ignacio Arias Pérez; Javier Benítez; Ute Hamann; Yon Dschun Ko; Thomas Brüning; Jenny Chang-Claude; Ursel Eilber; Rebecca Hein; Stefan Nickels; Dieter Flesch-Janys; Shan Wang-Gohrke; Esther M. John; Alexander Miron; Robert Winqvist; Katri Pylkäs; Arja Jukkola-Vuorinen; Mervi Grip; Georgia Chenevix-Trench; Jonathan Beesley; Xiaoqing Chen; k. Con Fab Investigators; Florence Menegaux; Emilie Cordina-Duverger; Chen Yang Shen; Jyh Cherng Yu; Pei Ei Wu; Ming Feng Hou; Irene L. Andrulis; Teresa Selander; Gord Glendon; Anna Marie Mulligan; Hoda Anton-Culver; Argyrios Ziogas; Kenneth R. Muir; Artitaya Lophatananon; Suthee Rattanamongkongul; Puttisak Puttawibul; Michael Jones; Nicholas Orr; Alan Ashworth; Anthony Swerdlow; Gianluca Severi; Laura Baglietto; Graham Giles; Federik Marmé; Andreas Schneeweiss; Christof Sohn; Barbara Burwinkel; Betul T. Yesilyurt; Patrick Neven; Robert Paridaens; Hans Wildiers; Hermann Brenner; Heiko Müller; Volker Arndt; Christa Stegmaier; Alfons Meindl; Sarah Schott; Claus R. Bartram; Rita K. Schmutzler; Angela Cox; Ian W. Brock; Graeme Elliott; Simon S. Cross; Peter A. Fasching; Ruediger Schulz-Wendtland; Arif B. Ekici; Matthias W. Beckmann; Olivia Fletcher; Nichola Johnson; Isabel dos Santos Silva; Julian Peto; Heli Nevanlinna; Taru A. Muranen; Kristiina Aittomäki; Carl Blomqvist; Thilo Dörk; Peter Schürmann; Michael Bremer; Peter Hillemanns; Natalia V. Bogdanova; Natalia N. Antonenkova; Yuri I. Rogov; Johann H. Karstens; Elza Khusnutdinova; Marina Bermisheva; Darya Prokofieva; Shamil Gancev; Anna Jakubowska; Jan Lubinski; Katarzyna Jaworska; Katarzyna Durda; Børge G. Nordestgaard; Stig E. Bojesen; Charlotte Lanng; Arto Mannermaa; Vesa Kataja; Veli Matti Kosma; Jaana M. Hartikainen; Paolo Radice; Paolo Peterlongo; Siranoush Manoukian; Loris Bernard; Fergus J. Couch; Janet E. Olson; Xianshu Wang; Zachary Fredericksen; Grethe Grenaker Alnæs; Vessela Kristensen; Anne Lise Børresen-Dale; Peter Devilee; Robert A.E.M. Tollenaar; Caroline M. Seynaeve; Maartje J. Hooning; Montserrat García-Closas; Stephen J. Chanock; Jolanta Lissowska; Mark E. Sherman; Per Hall; Jianjun Liu; Kamila Czene; Daehee Kang; Keun Young Yoo; Dong Young Noh; Annika Lindblom; Sara Margolin; Alison M. Dunning; Paul D.P. Pharoah; Douglas F. Easton; Pascal Guénel; Hiltrud Brauch

doi:10.1002/humu.22089

11q13 is a susceptibility locus for hormone receptor positive breast cancer

Diether Lambrechts, Therese Truong, Christina Justenhoven, Manjeet K. Humphreys, Jean Wang, John L. Hopper, Gillian S. Dite, Carmel Apicella, Melissa C. Southey, Marjanka K. Schmidt, Annegien Broeks, Sten Cornelissen, Richard van Hien, Elinor Sawyer, Ian Tomlinson, Michael Kerin, Nicola Miller, Roger L. Milne, M. Pilar Zamora, José Ignacio Arias PérezJavier Benítez, Ute Hamann, Yon Dschun Ko, Thomas Brüning, Jenny Chang-Claude, Ursel Eilber, Rebecca Hein, Stefan Nickels, Dieter Flesch-Janys, Shan Wang-Gohrke, Esther M. John, Alexander Miron, Robert Winqvist, Katri Pylkäs, Arja Jukkola-Vuorinen, Mervi Grip, Georgia Chenevix-Trench, Jonathan Beesley, Xiaoqing Chen, k. Con Fab Investigators, Florence Menegaux, Emilie Cordina-Duverger, Chen Yang Shen, Jyh Cherng Yu, Pei Ei Wu, Ming Feng Hou, Irene L. Andrulis, Teresa Selander, Gord Glendon, Anna Marie Mulligan, Hoda Anton-Culver, Argyrios Ziogas, Kenneth R. Muir, Artitaya Lophatananon, Suthee Rattanamongkongul, Puttisak Puttawibul, Michael Jones, Nicholas Orr, Alan Ashworth, Anthony Swerdlow, Gianluca Severi, Laura Baglietto, Graham Giles, Federik Marmé, Andreas Schneeweiss, Christof Sohn, Barbara Burwinkel, Betul T. Yesilyurt, Patrick Neven, Robert Paridaens, Hans Wildiers, Hermann Brenner, Heiko Müller, Volker Arndt, Christa Stegmaier, Alfons Meindl, Sarah Schott, Claus R. Bartram, Rita K. Schmutzler, Angela Cox, Ian W. Brock, Graeme Elliott, Simon S. Cross, Peter A. Fasching, Ruediger Schulz-Wendtland, Arif B. Ekici, Matthias W. Beckmann, Olivia Fletcher, Nichola Johnson, Isabel dos Santos Silva, Julian Peto, Heli Nevanlinna, Taru A. Muranen, Kristiina Aittomäki, Carl Blomqvist, Thilo Dörk, Peter Schürmann, Michael Bremer, Peter Hillemanns, Natalia V. Bogdanova, Natalia N. Antonenkova, Yuri I. Rogov, Johann H. Karstens, Elza Khusnutdinova, Marina Bermisheva, Darya Prokofieva, Shamil Gancev, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Børge G. Nordestgaard, Stig E. Bojesen, Charlotte Lanng, Arto Mannermaa, Vesa Kataja, Veli Matti Kosma, Jaana M. Hartikainen, Paolo Radice, Paolo Peterlongo, Siranoush Manoukian, Loris Bernard, Fergus J. Couch, Janet E. Olson, Xianshu Wang, Zachary Fredericksen, Grethe Grenaker Alnæs, Vessela Kristensen, Anne Lise Børresen-Dale, Peter Devilee, Robert A.E.M. Tollenaar, Caroline M. Seynaeve, Maartje J. Hooning, Montserrat García-Closas, Stephen J. Chanock, Jolanta Lissowska, Mark E. Sherman, Per Hall, Jianjun Liu, Kamila Czene, Daehee Kang, Keun Young Yoo, Dong Young Noh, Annika Lindblom, Sara Margolin, Alison M. Dunning, Paul D.P. Pharoah, Douglas F. Easton, Pascal Guénel, Hiltrud Brauch

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

33 Scopus citations

Abstract

A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, 10, and 11. To provide more reliable estimates of the relative risk associated with these loci and investigate possible heterogeneity by subtype of breast cancer, we genotyped the variants rs2380205, rs1011970, rs704010, rs614367, and rs10995190 in 39 studies from the Breast Cancer Association Consortium (BCAC), involving 49,608 cases and 48,772 controls of predominantly European ancestry. Four of the variants showed clear evidence of association (P ≤ 3 × 10^-9) and weak evidence was observed for rs2380205 (P = 0.06). The strongest evidence was obtained for rs614367, located on 11q13 (per-allele odds ratio 1.21, P = 4 × 10^-39). The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest for ER plus progesterone receptor (PR)-positive breast cancer, whereas the associations for the other three loci did not differ by tumor subtype.

Original language	English (US)
Pages (from-to)	1123-1132
Number of pages	10
Journal	Human mutation
Volume	33
Issue number	7
DOIs	https://doi.org/10.1002/humu.22089
State	Published - Jul 2012

Keywords

11q13
Breast cancer susceptibility
Genome-wide association
Hormone receptor status
Polymorphisms
Risk factors

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/humu.22089

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Lambrechts, D., Truong, T., Justenhoven, C., Humphreys, M. K., Wang, J., Hopper, J. L., Dite, G. S., Apicella, C., Southey, M. C., Schmidt, M. K., Broeks, A., Cornelissen, S., van Hien, R., Sawyer, E., Tomlinson, I., Kerin, M., Miller, N., Milne, R. L., Zamora, M. P., ... Brauch, H. (2012). 11q13 is a susceptibility locus for hormone receptor positive breast cancer. Human mutation, 33(7), 1123-1132. https://doi.org/10.1002/humu.22089

Lambrechts, D, Truong, T, Justenhoven, C, Humphreys, MK, Wang, J, Hopper, JL, Dite, GS, Apicella, C, Southey, MC, Schmidt, MK, Broeks, A, Cornelissen, S, van Hien, R, Sawyer, E, Tomlinson, I, Kerin, M, Miller, N, Milne, RL, Zamora, MP, Pérez, JIA, Benítez, J, Hamann, U, Ko, YD, Brüning, T, Chang-Claude, J, Eilber, U, Hein, R, Nickels, S, Flesch-Janys, D, Wang-Gohrke, S, John, EM, Miron, A, Winqvist, R, Pylkäs, K, Jukkola-Vuorinen, A, Grip, M, Chenevix-Trench, G, Beesley, J, Chen, X, Investigators, KCF, Menegaux, F, Cordina-Duverger, E, Shen, CY, Yu, JC, Wu, PE, Hou, MF, Andrulis, IL, Selander, T, Glendon, G, Mulligan, AM, Anton-Culver, H, Ziogas, A, Muir, KR, Lophatananon, A, Rattanamongkongul, S, Puttawibul, P, Jones, M, Orr, N, Ashworth, A, Swerdlow, A, Severi, G, Baglietto, L, Giles, G, Marmé, F, Schneeweiss, A, Sohn, C, Burwinkel, B, Yesilyurt, BT, Neven, P, Paridaens, R, Wildiers, H, Brenner, H, Müller, H, Arndt, V, Stegmaier, C, Meindl, A, Schott, S, Bartram, CR, Schmutzler, RK, Cox, A, Brock, IW, Elliott, G, Cross, SS, Fasching, PA, Schulz-Wendtland, R, Ekici, AB, Beckmann, MW, Fletcher, O, Johnson, N, Silva, IDS, Peto, J, Nevanlinna, H, Muranen, TA, Aittomäki, K, Blomqvist, C, Dörk, T, Schürmann, P, Bremer, M, Hillemanns, P, Bogdanova, NV, Antonenkova, NN, Rogov, YI, Karstens, JH, Khusnutdinova, E, Bermisheva, M, Prokofieva, D, Gancev, S, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Nordestgaard, BG, Bojesen, SE, Lanng, C, Mannermaa, A, Kataja, V, Kosma, VM, Hartikainen, JM, Radice, P, Peterlongo, P, Manoukian, S, Bernard, L, Couch, FJ , Olson, JE, Wang, X, Fredericksen, Z, Alnæs, GG, Kristensen, V, Børresen-Dale, AL, Devilee, P, Tollenaar, RAEM, Seynaeve, CM, Hooning, MJ, García-Closas, M, Chanock, SJ, Lissowska, J, Sherman, ME, Hall, P, Liu, J, Czene, K, Kang, D, Yoo, KY, Noh, DY, Lindblom, A, Margolin, S, Dunning, AM, Pharoah, PDP, Easton, DF, Guénel, P & Brauch, H 2012, '11q13 is a susceptibility locus for hormone receptor positive breast cancer', Human mutation, vol. 33, no. 7, pp. 1123-1132. https://doi.org/10.1002/humu.22089

@article{c85e379da6e6481ca7b202ac19620013,

title = "11q13 is a susceptibility locus for hormone receptor positive breast cancer",

abstract = "A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, 10, and 11. To provide more reliable estimates of the relative risk associated with these loci and investigate possible heterogeneity by subtype of breast cancer, we genotyped the variants rs2380205, rs1011970, rs704010, rs614367, and rs10995190 in 39 studies from the Breast Cancer Association Consortium (BCAC), involving 49,608 cases and 48,772 controls of predominantly European ancestry. Four of the variants showed clear evidence of association (P ≤ 3 × 10-9) and weak evidence was observed for rs2380205 (P = 0.06). The strongest evidence was obtained for rs614367, located on 11q13 (per-allele odds ratio 1.21, P = 4 × 10-39). The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest for ER plus progesterone receptor (PR)-positive breast cancer, whereas the associations for the other three loci did not differ by tumor subtype.",

keywords = "11q13, Breast cancer susceptibility, Genome-wide association, Hormone receptor status, Polymorphisms, Risk factors",

author = "Diether Lambrechts and Therese Truong and Christina Justenhoven and Humphreys, {Manjeet K.} and Jean Wang and Hopper, {John L.} and Dite, {Gillian S.} and Carmel Apicella and Southey, {Melissa C.} and Schmidt, {Marjanka K.} and Annegien Broeks and Sten Cornelissen and {van Hien}, Richard and Elinor Sawyer and Ian Tomlinson and Michael Kerin and Nicola Miller and Milne, {Roger L.} and Zamora, {M. Pilar} and P{\'e}rez, {Jos{\'e} Ignacio Arias} and Javier Ben{\'i}tez and Ute Hamann and Ko, {Yon Dschun} and Thomas Br{\"u}ning and Jenny Chang-Claude and Ursel Eilber and Rebecca Hein and Stefan Nickels and Dieter Flesch-Janys and Shan Wang-Gohrke and John, {Esther M.} and Alexander Miron and Robert Winqvist and Katri Pylk{\"a}s and Arja Jukkola-Vuorinen and Mervi Grip and Georgia Chenevix-Trench and Jonathan Beesley and Xiaoqing Chen and Investigators, {k. Con Fab} and Florence Menegaux and Emilie Cordina-Duverger and Shen, {Chen Yang} and Yu, {Jyh Cherng} and Wu, {Pei Ei} and Hou, {Ming Feng} and Andrulis, {Irene L.} and Teresa Selander and Gord Glendon and Mulligan, {Anna Marie} and Hoda Anton-Culver and Argyrios Ziogas and Muir, {Kenneth R.} and Artitaya Lophatananon and Suthee Rattanamongkongul and Puttisak Puttawibul and Michael Jones and Nicholas Orr and Alan Ashworth and Anthony Swerdlow and Gianluca Severi and Laura Baglietto and Graham Giles and Federik Marm{\'e} and Andreas Schneeweiss and Christof Sohn and Barbara Burwinkel and Yesilyurt, {Betul T.} and Patrick Neven and Robert Paridaens and Hans Wildiers and Hermann Brenner and Heiko M{\"u}ller and Volker Arndt and Christa Stegmaier and Alfons Meindl and Sarah Schott and Bartram, {Claus R.} and Schmutzler, {Rita K.} and Angela Cox and Brock, {Ian W.} and Graeme Elliott and Cross, {Simon S.} and Fasching, {Peter A.} and Ruediger Schulz-Wendtland and Ekici, {Arif B.} and Beckmann, {Matthias W.} and Olivia Fletcher and Nichola Johnson and Silva, {Isabel dos Santos} and Julian Peto and Heli Nevanlinna and Muranen, {Taru A.} and Kristiina Aittom{\"a}ki and Carl Blomqvist and Thilo D{\"o}rk and Peter Sch{\"u}rmann and Michael Bremer and Peter Hillemanns and Bogdanova, {Natalia V.} and Antonenkova, {Natalia N.} and Rogov, {Yuri I.} and Karstens, {Johann H.} and Elza Khusnutdinova and Marina Bermisheva and Darya Prokofieva and Shamil Gancev and Anna Jakubowska and Jan Lubinski and Katarzyna Jaworska and Katarzyna Durda and Nordestgaard, {B{\o}rge G.} and Bojesen, {Stig E.} and Charlotte Lanng and Arto Mannermaa and Vesa Kataja and Kosma, {Veli Matti} and Hartikainen, {Jaana M.} and Paolo Radice and Paolo Peterlongo and Siranoush Manoukian and Loris Bernard and Couch, {Fergus J.} and Olson, {Janet E.} and Xianshu Wang and Zachary Fredericksen and Aln{\ae}s, {Grethe Grenaker} and Vessela Kristensen and B{\o}rresen-Dale, {Anne Lise} and Peter Devilee and Tollenaar, {Robert A.E.M.} and Seynaeve, {Caroline M.} and Hooning, {Maartje J.} and Montserrat Garc{\'i}a-Closas and Chanock, {Stephen J.} and Jolanta Lissowska and Sherman, {Mark E.} and Per Hall and Jianjun Liu and Kamila Czene and Daehee Kang and Yoo, {Keun Young} and Noh, {Dong Young} and Annika Lindblom and Sara Margolin and Dunning, {Alison M.} and Pharoah, {Paul D.P.} and Easton, {Douglas F.} and Pascal Gu{\'e}nel and Hiltrud Brauch",

year = "2012",

month = jul,

doi = "10.1002/humu.22089",

language = "English (US)",

volume = "33",

pages = "1123--1132",

journal = "Human mutation",

issn = "1059-7794",

publisher = "Wiley-Liss Inc.",

number = "7",

}

TY - JOUR

T1 - 11q13 is a susceptibility locus for hormone receptor positive breast cancer

AU - Lambrechts, Diether

AU - Truong, Therese

AU - Justenhoven, Christina

AU - Humphreys, Manjeet K.

AU - Wang, Jean

AU - Hopper, John L.

AU - Dite, Gillian S.

AU - Apicella, Carmel

AU - Southey, Melissa C.

AU - Schmidt, Marjanka K.

AU - Broeks, Annegien

AU - Cornelissen, Sten

AU - van Hien, Richard

AU - Sawyer, Elinor

AU - Tomlinson, Ian

AU - Kerin, Michael

AU - Miller, Nicola

AU - Milne, Roger L.

AU - Zamora, M. Pilar

AU - Pérez, José Ignacio Arias

AU - Benítez, Javier

AU - Hamann, Ute

AU - Ko, Yon Dschun

AU - Brüning, Thomas

AU - Chang-Claude, Jenny

AU - Eilber, Ursel

AU - Hein, Rebecca

AU - Nickels, Stefan

AU - Flesch-Janys, Dieter

AU - Wang-Gohrke, Shan

AU - John, Esther M.

AU - Miron, Alexander

AU - Winqvist, Robert

AU - Pylkäs, Katri

AU - Jukkola-Vuorinen, Arja

AU - Grip, Mervi

AU - Chenevix-Trench, Georgia

AU - Beesley, Jonathan

AU - Chen, Xiaoqing

AU - Investigators, k. Con Fab

AU - Menegaux, Florence

AU - Cordina-Duverger, Emilie

AU - Shen, Chen Yang

AU - Yu, Jyh Cherng

AU - Wu, Pei Ei

AU - Hou, Ming Feng

AU - Andrulis, Irene L.

AU - Selander, Teresa

AU - Glendon, Gord

AU - Mulligan, Anna Marie

AU - Anton-Culver, Hoda

AU - Ziogas, Argyrios

AU - Muir, Kenneth R.

AU - Lophatananon, Artitaya

AU - Rattanamongkongul, Suthee

AU - Puttawibul, Puttisak

AU - Jones, Michael

AU - Orr, Nicholas

AU - Ashworth, Alan

AU - Swerdlow, Anthony

AU - Severi, Gianluca

AU - Baglietto, Laura

AU - Giles, Graham

AU - Marmé, Federik

AU - Schneeweiss, Andreas

AU - Sohn, Christof

AU - Burwinkel, Barbara

AU - Yesilyurt, Betul T.

AU - Neven, Patrick

AU - Paridaens, Robert

AU - Wildiers, Hans

AU - Brenner, Hermann

AU - Müller, Heiko

AU - Arndt, Volker

AU - Stegmaier, Christa

AU - Meindl, Alfons

AU - Schott, Sarah

AU - Bartram, Claus R.

AU - Schmutzler, Rita K.

AU - Cox, Angela

AU - Brock, Ian W.

AU - Elliott, Graeme

AU - Cross, Simon S.

AU - Fasching, Peter A.

AU - Schulz-Wendtland, Ruediger

AU - Ekici, Arif B.

AU - Beckmann, Matthias W.

AU - Fletcher, Olivia

AU - Johnson, Nichola

AU - Silva, Isabel dos Santos

AU - Peto, Julian

AU - Nevanlinna, Heli

AU - Muranen, Taru A.

AU - Aittomäki, Kristiina

AU - Blomqvist, Carl

AU - Dörk, Thilo

AU - Schürmann, Peter

AU - Bremer, Michael

AU - Hillemanns, Peter

AU - Bogdanova, Natalia V.

AU - Antonenkova, Natalia N.

AU - Rogov, Yuri I.

AU - Karstens, Johann H.

AU - Khusnutdinova, Elza

AU - Bermisheva, Marina

AU - Prokofieva, Darya

AU - Gancev, Shamil

AU - Jakubowska, Anna

AU - Lubinski, Jan

AU - Jaworska, Katarzyna

AU - Durda, Katarzyna

AU - Nordestgaard, Børge G.

AU - Bojesen, Stig E.

AU - Lanng, Charlotte

AU - Mannermaa, Arto

AU - Kataja, Vesa

AU - Kosma, Veli Matti

AU - Hartikainen, Jaana M.

AU - Radice, Paolo

AU - Peterlongo, Paolo

AU - Manoukian, Siranoush

AU - Bernard, Loris

AU - Couch, Fergus J.

AU - Olson, Janet E.

AU - Wang, Xianshu

AU - Fredericksen, Zachary

AU - Alnæs, Grethe Grenaker

AU - Kristensen, Vessela

AU - Børresen-Dale, Anne Lise

AU - Devilee, Peter

AU - Tollenaar, Robert A.E.M.

AU - Seynaeve, Caroline M.

AU - Hooning, Maartje J.

AU - García-Closas, Montserrat

AU - Chanock, Stephen J.

AU - Lissowska, Jolanta

AU - Sherman, Mark E.

AU - Hall, Per

AU - Liu, Jianjun

AU - Czene, Kamila

AU - Kang, Daehee

AU - Yoo, Keun Young

AU - Noh, Dong Young

AU - Lindblom, Annika

AU - Margolin, Sara

AU - Dunning, Alison M.

AU - Pharoah, Paul D.P.

AU - Easton, Douglas F.

AU - Guénel, Pascal

AU - Brauch, Hiltrud

PY - 2012/7

Y1 - 2012/7

N2 - A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, 10, and 11. To provide more reliable estimates of the relative risk associated with these loci and investigate possible heterogeneity by subtype of breast cancer, we genotyped the variants rs2380205, rs1011970, rs704010, rs614367, and rs10995190 in 39 studies from the Breast Cancer Association Consortium (BCAC), involving 49,608 cases and 48,772 controls of predominantly European ancestry. Four of the variants showed clear evidence of association (P ≤ 3 × 10-9) and weak evidence was observed for rs2380205 (P = 0.06). The strongest evidence was obtained for rs614367, located on 11q13 (per-allele odds ratio 1.21, P = 4 × 10-39). The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest for ER plus progesterone receptor (PR)-positive breast cancer, whereas the associations for the other three loci did not differ by tumor subtype.

AB - A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, 10, and 11. To provide more reliable estimates of the relative risk associated with these loci and investigate possible heterogeneity by subtype of breast cancer, we genotyped the variants rs2380205, rs1011970, rs704010, rs614367, and rs10995190 in 39 studies from the Breast Cancer Association Consortium (BCAC), involving 49,608 cases and 48,772 controls of predominantly European ancestry. Four of the variants showed clear evidence of association (P ≤ 3 × 10-9) and weak evidence was observed for rs2380205 (P = 0.06). The strongest evidence was obtained for rs614367, located on 11q13 (per-allele odds ratio 1.21, P = 4 × 10-39). The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest for ER plus progesterone receptor (PR)-positive breast cancer, whereas the associations for the other three loci did not differ by tumor subtype.

KW - 11q13

KW - Breast cancer susceptibility

KW - Genome-wide association

KW - Hormone receptor status

KW - Polymorphisms

KW - Risk factors

UR - http://www.scopus.com/inward/record.url?scp=84861862129&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84861862129&partnerID=8YFLogxK

U2 - 10.1002/humu.22089

DO - 10.1002/humu.22089

M3 - Article

C2 - 22461340

AN - SCOPUS:84861862129

SN - 1059-7794

VL - 33

SP - 1123

EP - 1132

JO - Human mutation

JF - Human mutation

IS - 7

ER -

11q13 is a susceptibility locus for hormone receptor positive breast cancer

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