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; AOCS Group

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, AOCS Group

4 Citations (Scopus)

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
Journal	Journal of Medical Genetics
Volume	48
Issue number	10
Pages (from-to)	698-702
Number of pages	5
ISSN	0022-2593
DOIs	https://doi.org/10.1136/jmedgenet-2011-100303
Publication status	Published - Oct 2011

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Milne, R. L., Lorenzo-Bermejo, J., Burwinkel, B., Malats, N., Arias, J. I., Zamora, M. P., 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., ... AOCS Group (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, Zamora, MP, Benítez, J, Humphreys, MK, García-Closas, M, Chanock, SJ, Lissowska, J, Sherman, ME, Mannermaa, A, Kataja, V, Kosma, V-M, 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, K-Y, Noh, D-Y, 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, C-Y, Yu, J-C, Hsu, H-M, Wu, P-E & AOCS Group 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

@article{b0021c04d2584115ab9f3a24f344c56c,

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 Zamora, {M Pilar} 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 Veli-Matti Kosma 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 Keun-Young Yoo and Dong-Young Noh 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 Chen-Yang Shen and Jyh-Cherng Yu and Huan-Ming Hsu and Pei-Ei Wu and B{\o}rge Nordestgaard",

year = "2011",

month = oct,

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

language = "English",

volume = "48",

pages = "698--702",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "B M J Group",

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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 - Zamora, M Pilar

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 - AOCS Group

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.

U2 - 10.1136/jmedgenet-2011-100303

DO - 10.1136/jmedgenet-2011-100303

M3 - Journal article

SN - 0022-2593

VL - 48

SP - 698

EP - 702

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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