7q21-rs6964587 and breast cancer risk: An extended case-control study by the Breast Cancer Association Consortium

Roger L. Milne; Justo Lorenzo-Bermejo; Barbara Burwinkel; Núria Malats; Jose Ignacio Arias; M. Pilar Zamora; Javier Benítez; Manjeet K. Humphreys; Montserrat García-Closas; Stephen J. Chanock; Jolanta Lissowska; Mark E. Sherman; Arto Mannermaa; Vesa Kataja; Veli Matti Kosma; Heli Nevanlinna; Tuomas Heikkinen; Kristiina Aittomäki; Carl Blomqvist; Hoda Anton-Culver; Argyrios Ziogas; Peter Devilee; Christie J. van Asperen; Rob A.E.M. Tollenaar; Caroline Seynaeve; Per Hall; Kamila Czene; Jianjun Liu; Astrid K. Irwanto; Daehee Kang; Keun Young Yoo; Dong Young Noh; Fergus J. Couch; Janet E. Olson; Xianshu Wang; Zachary Fredericksen; Børge G. Nordestgaard; Stig E. Bojesen; Henrik Flyger; Sara Margolin; Annika Lindblom; Peter A. Fasching; Ruediger Schulz-Wendtland; Arif B. Ekici; Matthias W. Beckmann; Shan Wang-Gohrke; Chen Yang Shen; Jyh Cherng Yu; Huan Ming Hsu; Pei Ei Wu; Graham G. Giles; Gianluca Severi; Laura Baglietto; Dallas R. English; Angela Cox; Ian Brock; Graeme Elliott; Malcolm W.R. Reed; Jonathan Beesley; Xiaoqing Chen; Olivia Fletcher; Lorna Gibson; Isabel dos Santos Silva; Julian Peto; Bernd Frank; Joerg Heil; Alfons Meindl; Jenny Chang-Claude; Rebecca Hein; Alina Vrieling; Dieter Flesch-Janys; Melissa C. Southey; Letitia Smith; Carmel Apicella; John L. Hopper; Alison M. Dunning; Karen A. Pooley; Paul D.P. Pharoah; Ute Hamann; Beate Pesch; Yon Dschun Ko; Douglas F. Easton; Georgia Chenevix-Trench

doi:10.1136/jmedgenet-2011-100303

7q21-rs6964587 and breast cancer risk: An extended case-control study by the Breast Cancer Association Consortium

Roger L. Milne, Justo Lorenzo-Bermejo, Barbara Burwinkel, Núria Malats, Jose Ignacio Arias, M. Pilar Zamora, Javier Benítez, Manjeet K. Humphreys, Montserrat García-Closas, Stephen J. Chanock, Jolanta Lissowska, Mark E. Sherman, Arto Mannermaa, Vesa Kataja, Veli Matti Kosma, Heli Nevanlinna, Tuomas Heikkinen, Kristiina Aittomäki, Carl Blomqvist, Hoda Anton-CulverArgyrios Ziogas, Peter Devilee, Christie J. van Asperen, Rob A.E.M. Tollenaar, Caroline Seynaeve, Per Hall, Kamila Czene, Jianjun Liu, Astrid K. Irwanto, Daehee Kang, Keun Young Yoo, Dong Young Noh, Fergus J. Couch, Janet E. Olson, Xianshu Wang, Zachary Fredericksen, Børge G. Nordestgaard, Stig E. Bojesen, Henrik Flyger, Sara Margolin, Annika Lindblom, Peter A. Fasching, Ruediger Schulz-Wendtland, Arif B. Ekici, Matthias W. Beckmann, Shan Wang-Gohrke, Chen Yang Shen, Jyh Cherng Yu, Huan Ming Hsu, Pei Ei Wu, Graham G. Giles, Gianluca Severi, Laura Baglietto, Dallas R. English, Angela Cox, Ian Brock, Graeme Elliott, Malcolm W.R. Reed, Jonathan Beesley, Xiaoqing Chen, Olivia Fletcher, Lorna Gibson, Isabel dos Santos Silva, Julian Peto, Bernd Frank, Joerg Heil, Alfons Meindl, Jenny Chang-Claude, Rebecca Hein, Alina Vrieling, Dieter Flesch-Janys, Melissa C. Southey, Letitia Smith, Carmel Apicella, John L. Hopper, Alison M. Dunning, Karen A. Pooley, Paul D.P. Pharoah, Ute Hamann, Beate Pesch, Yon Dschun Ko, Douglas F. Easton, Georgia Chenevix-Trench

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

4 Scopus citations

Abstract

Background Using the Breast Cancer Association Consortium, the authors previously reported that the single nucleotide polymorphism 7q21-rs6964587 (AKAP9-M463I) is associated with breast cancer risk. The authors have now assessed this association more comprehensively using 16 independent case-control studies. Methods The authors genotyped 14 843 invasive case patients and 19 852 control subjects with white European ancestry and 2595 invasive case patients and 2192 control subjects with Asian ancestry. ORs were estimated by logistic regression, adjusted for study. Heterogeneity in ORs was assessed by fitting interaction terms or by subclassifying case patients and applying polytomous logistic regression. Results For white European women, the minor T allele of 7q21-rs6964587 was associated with breast cancer risk under a recessive model (OR 1.07, 95% CI 1.00 to 1.13, p=0.04). Results were inconclusive for Asian women. From a combined analysis of 24 154 case patients and 33 376 control subjects of white European ancestry from the present and previous series, the best-fitting model was recessive, with an estimated OR of 1.08 (95% CI 1.03 to 1.13, p=0.001). The OR was greater at younger ages (p trend=0.01). Conclusion This may be the first common susceptibility allele for breast cancer to be identified with a recessive mode of inheritance.

Original language	English (US)
Pages (from-to)	698-702
Number of pages	5
Journal	Journal of medical genetics
Volume	48
Issue number	10
DOIs	https://doi.org/10.1136/jmedgenet-2011-100303
State	Published - Oct 2011

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Milne, R. L., Lorenzo-Bermejo, J., Burwinkel, B., Malats, N., Arias, J. I., Pilar Zamora, M., Benítez, J., Humphreys, M. K., García-Closas, M., Chanock, S. J., Lissowska, J., Sherman, M. E., Mannermaa, A., Kataja, V., Kosma, V. M., Nevanlinna, H., Heikkinen, T., Aittomäki, K., Blomqvist, C., ... Chenevix-Trench, G. (2011). 7q21-rs6964587 and breast cancer risk: An extended case-control study by the Breast Cancer Association Consortium. Journal of medical genetics, 48(10), 698-702. https://doi.org/10.1136/jmedgenet-2011-100303

Milne, RL, Lorenzo-Bermejo, J, Burwinkel, B, Malats, N, Arias, JI, Pilar Zamora, M, Benítez, J, Humphreys, MK, García-Closas, M, Chanock, SJ, Lissowska, J, Sherman, ME, Mannermaa, A, Kataja, V, Kosma, VM, Nevanlinna, H, Heikkinen, T, Aittomäki, K, Blomqvist, C, Anton-Culver, H, Ziogas, A, Devilee, P, van Asperen, CJ, Tollenaar, RAEM, Seynaeve, C, Hall, P, Czene, K, Liu, J, Irwanto, AK, Kang, D, Yoo, KY, Noh, DY, Couch, FJ , Olson, JE, Wang, X, Fredericksen, Z, Nordestgaard, BG, Bojesen, SE, Flyger, H, Margolin, S, Lindblom, A, Fasching, PA, Schulz-Wendtland, R, Ekici, AB, Beckmann, MW, Wang-Gohrke, S, Shen, CY, Yu, JC, Hsu, HM, Wu, PE, Giles, GG, Severi, G, Baglietto, L, English, DR, Cox, A, Brock, I, Elliott, G, Reed, MWR, Beesley, J, Chen, X, Fletcher, O, Gibson, L, Silva, IDS, Peto, J, Frank, B, Heil, J, Meindl, A, Chang-Claude, J, Hein, R, Vrieling, A, Flesch-Janys, D, Southey, MC, Smith, L, Apicella, C, Hopper, JL, Dunning, AM, Pooley, KA, Pharoah, PDP, Hamann, U, Pesch, B, Ko, YD, Easton, DF & Chenevix-Trench, G 2011, '7q21-rs6964587 and breast cancer risk: An extended case-control study by the Breast Cancer Association Consortium', Journal of medical genetics, vol. 48, no. 10, pp. 698-702. https://doi.org/10.1136/jmedgenet-2011-100303

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title = "7q21-rs6964587 and breast cancer risk: An extended case-control study by the Breast Cancer Association Consortium",

abstract = "Background Using the Breast Cancer Association Consortium, the authors previously reported that the single nucleotide polymorphism 7q21-rs6964587 (AKAP9-M463I) is associated with breast cancer risk. The authors have now assessed this association more comprehensively using 16 independent case-control studies. Methods The authors genotyped 14 843 invasive case patients and 19 852 control subjects with white European ancestry and 2595 invasive case patients and 2192 control subjects with Asian ancestry. ORs were estimated by logistic regression, adjusted for study. Heterogeneity in ORs was assessed by fitting interaction terms or by subclassifying case patients and applying polytomous logistic regression. Results For white European women, the minor T allele of 7q21-rs6964587 was associated with breast cancer risk under a recessive model (OR 1.07, 95% CI 1.00 to 1.13, p=0.04). Results were inconclusive for Asian women. From a combined analysis of 24 154 case patients and 33 376 control subjects of white European ancestry from the present and previous series, the best-fitting model was recessive, with an estimated OR of 1.08 (95% CI 1.03 to 1.13, p=0.001). The OR was greater at younger ages (p trend=0.01). Conclusion This may be the first common susceptibility allele for breast cancer to be identified with a recessive mode of inheritance.",

author = "Milne, {Roger L.} and Justo Lorenzo-Bermejo and Barbara Burwinkel and N{\'u}ria Malats and Arias, {Jose Ignacio} and {Pilar Zamora}, M. and Javier Ben{\'i}tez and Humphreys, {Manjeet K.} and Montserrat Garc{\'i}a-Closas and Chanock, {Stephen J.} and Jolanta Lissowska and Sherman, {Mark E.} and Arto Mannermaa and Vesa Kataja and Kosma, {Veli Matti} and Heli Nevanlinna and Tuomas Heikkinen and Kristiina Aittom{\"a}ki and Carl Blomqvist and Hoda Anton-Culver and Argyrios Ziogas and Peter Devilee and {van Asperen}, {Christie J.} and Tollenaar, {Rob A.E.M.} and Caroline Seynaeve and Per Hall and Kamila Czene and Jianjun Liu and Irwanto, {Astrid K.} and Daehee Kang and Yoo, {Keun Young} and Noh, {Dong Young} and Couch, {Fergus J.} and Olson, {Janet E.} and Xianshu Wang and Zachary Fredericksen and Nordestgaard, {B{\o}rge G.} and Bojesen, {Stig E.} and Henrik Flyger and Sara Margolin and Annika Lindblom and Fasching, {Peter A.} and Ruediger Schulz-Wendtland and Ekici, {Arif B.} and Beckmann, {Matthias W.} and Shan Wang-Gohrke and Shen, {Chen Yang} and Yu, {Jyh Cherng} and Hsu, {Huan Ming} and Wu, {Pei Ei} and Giles, {Graham G.} and Gianluca Severi and Laura Baglietto and English, {Dallas R.} and Angela Cox and Ian Brock and Graeme Elliott and Reed, {Malcolm W.R.} and Jonathan Beesley and Xiaoqing Chen and Olivia Fletcher and Lorna Gibson and Silva, {Isabel dos Santos} and Julian Peto and Bernd Frank and Joerg Heil and Alfons Meindl and Jenny Chang-Claude and Rebecca Hein and Alina Vrieling and Dieter Flesch-Janys and Southey, {Melissa C.} and Letitia Smith and Carmel Apicella and Hopper, {John L.} and Dunning, {Alison M.} and Pooley, {Karen A.} and Pharoah, {Paul D.P.} and Ute Hamann and Beate Pesch and Ko, {Yon Dschun} and Easton, {Douglas F.} and Georgia Chenevix-Trench",

year = "2011",

month = oct,

doi = "10.1136/jmedgenet-2011-100303",

language = "English (US)",

volume = "48",

pages = "698--702",

journal = "Journal of medical genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "10",

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TY - JOUR

T1 - 7q21-rs6964587 and breast cancer risk

T2 - An extended case-control study by the Breast Cancer Association Consortium

AU - Milne, Roger L.

AU - Lorenzo-Bermejo, Justo

AU - Burwinkel, Barbara

AU - Malats, Núria

AU - Arias, Jose Ignacio

AU - Pilar Zamora, M.

AU - Benítez, Javier

AU - Humphreys, Manjeet K.

AU - García-Closas, Montserrat

AU - Chanock, Stephen J.

AU - Lissowska, Jolanta

AU - Sherman, Mark E.

AU - Mannermaa, Arto

AU - Kataja, Vesa

AU - Kosma, Veli Matti

AU - Nevanlinna, Heli

AU - Heikkinen, Tuomas

AU - Aittomäki, Kristiina

AU - Blomqvist, Carl

AU - Anton-Culver, Hoda

AU - Ziogas, Argyrios

AU - Devilee, Peter

AU - van Asperen, Christie J.

AU - Tollenaar, Rob A.E.M.

AU - Seynaeve, Caroline

AU - Hall, Per

AU - Czene, Kamila

AU - Liu, Jianjun

AU - Irwanto, Astrid K.

AU - Kang, Daehee

AU - Yoo, Keun Young

AU - Noh, Dong Young

AU - Couch, Fergus J.

AU - Olson, Janet E.

AU - Wang, Xianshu

AU - Fredericksen, Zachary

AU - Nordestgaard, Børge G.

AU - Bojesen, Stig E.

AU - Flyger, Henrik

AU - Margolin, Sara

AU - Lindblom, Annika

AU - Fasching, Peter A.

AU - Schulz-Wendtland, Ruediger

AU - Ekici, Arif B.

AU - Beckmann, Matthias W.

AU - Wang-Gohrke, Shan

AU - Shen, Chen Yang

AU - Yu, Jyh Cherng

AU - Hsu, Huan Ming

AU - Wu, Pei Ei

AU - Giles, Graham G.

AU - Severi, Gianluca

AU - Baglietto, Laura

AU - English, Dallas R.

AU - Cox, Angela

AU - Brock, Ian

AU - Elliott, Graeme

AU - Reed, Malcolm W.R.

AU - Beesley, Jonathan

AU - Chen, Xiaoqing

AU - Fletcher, Olivia

AU - Gibson, Lorna

AU - Silva, Isabel dos Santos

AU - Peto, Julian

AU - Frank, Bernd

AU - Heil, Joerg

AU - Meindl, Alfons

AU - Chang-Claude, Jenny

AU - Hein, Rebecca

AU - Vrieling, Alina

AU - Flesch-Janys, Dieter

AU - Southey, Melissa C.

AU - Smith, Letitia

AU - Apicella, Carmel

AU - Hopper, John L.

AU - Dunning, Alison M.

AU - Pooley, Karen A.

AU - Pharoah, Paul D.P.

AU - Hamann, Ute

AU - Pesch, Beate

AU - Ko, Yon Dschun

AU - Easton, Douglas F.

AU - Chenevix-Trench, Georgia

PY - 2011/10

Y1 - 2011/10

N2 - Background Using the Breast Cancer Association Consortium, the authors previously reported that the single nucleotide polymorphism 7q21-rs6964587 (AKAP9-M463I) is associated with breast cancer risk. The authors have now assessed this association more comprehensively using 16 independent case-control studies. Methods The authors genotyped 14 843 invasive case patients and 19 852 control subjects with white European ancestry and 2595 invasive case patients and 2192 control subjects with Asian ancestry. ORs were estimated by logistic regression, adjusted for study. Heterogeneity in ORs was assessed by fitting interaction terms or by subclassifying case patients and applying polytomous logistic regression. Results For white European women, the minor T allele of 7q21-rs6964587 was associated with breast cancer risk under a recessive model (OR 1.07, 95% CI 1.00 to 1.13, p=0.04). Results were inconclusive for Asian women. From a combined analysis of 24 154 case patients and 33 376 control subjects of white European ancestry from the present and previous series, the best-fitting model was recessive, with an estimated OR of 1.08 (95% CI 1.03 to 1.13, p=0.001). The OR was greater at younger ages (p trend=0.01). Conclusion This may be the first common susceptibility allele for breast cancer to be identified with a recessive mode of inheritance.

AB - Background Using the Breast Cancer Association Consortium, the authors previously reported that the single nucleotide polymorphism 7q21-rs6964587 (AKAP9-M463I) is associated with breast cancer risk. The authors have now assessed this association more comprehensively using 16 independent case-control studies. Methods The authors genotyped 14 843 invasive case patients and 19 852 control subjects with white European ancestry and 2595 invasive case patients and 2192 control subjects with Asian ancestry. ORs were estimated by logistic regression, adjusted for study. Heterogeneity in ORs was assessed by fitting interaction terms or by subclassifying case patients and applying polytomous logistic regression. Results For white European women, the minor T allele of 7q21-rs6964587 was associated with breast cancer risk under a recessive model (OR 1.07, 95% CI 1.00 to 1.13, p=0.04). Results were inconclusive for Asian women. From a combined analysis of 24 154 case patients and 33 376 control subjects of white European ancestry from the present and previous series, the best-fitting model was recessive, with an estimated OR of 1.08 (95% CI 1.03 to 1.13, p=0.001). The OR was greater at younger ages (p trend=0.01). Conclusion This may be the first common susceptibility allele for breast cancer to be identified with a recessive mode of inheritance.

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U2 - 10.1136/jmedgenet-2011-100303

DO - 10.1136/jmedgenet-2011-100303

M3 - Article

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SN - 0022-2593

VL - 48

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JO - Journal of medical genetics

JF - Journal of medical genetics

IS - 10

ER -

7q21-rs6964587 and breast cancer risk: An extended case-control study by the Breast Cancer Association Consortium

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