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

RL Milne; J Lorenzo-Bermejo; B Burwinkel; N Malats; JI Arias; MP Zamora; J Benitez; MK Humphreys; M Garcia-Closas; SJ Chanock; J Lissowska; ME Sherman; A Mannermaa; V Kataja; VM Kosma; H Nevanlinna; T Heikkinen; K Aittomaki; C Blomqvist; H Anton-Culver; A Ziogas; P Devilee; CJ van Asperen; RAEM Tollenaar; Caroline Seynaeve; P Hall; K Czene; JJ Liu; AK Irwanto; D Kang; KY Yoo; DY Noh; FJ Couch; JE Olson; XS Wang; Z Fredericksen; BG Nordestgaard; SE Bojesen; H Flyger; S Margolin; A Lindblom; PA Fasching; R Schulz-Wendtland; AB Ekici; MW Beckmann; S Wang-Gohrke; CY Shen; JC Yu; HM Hsu; PE Wu; GG Giles; G Severi; L Baglietto; DR English; A Cox; I Brock; G Elliott; MWR Reed; J Beesley; XQ Chen; O Fletcher; L Gibson; ID Silva; J Peto; B Frank; J Heil; A Meindl; J Chang-Claude; R Hein; A Vrieling; D Flesch-Janys; MC Southey; L (Letitia) Smith; C Apicella; JL Hopper; AM Dunning; KA Pooley; PDP Pharoah; U Hamann; B Pesch; YD Ko; DF Easton; G 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

RL Milne, J Lorenzo-Bermejo, B Burwinkel, N Malats, JI Arias, MP Zamora, J Benitez, MK Humphreys, M Garcia-Closas, SJ Chanock, J Lissowska, ME Sherman, A Mannermaa, V Kataja, VM Kosma, H Nevanlinna, T Heikkinen, K Aittomaki, C Blomqvist, H Anton-CulverA Ziogas, P Devilee, CJ van Asperen, RAEM Tollenaar, Caroline Seynaeve, P Hall, K Czene, JJ Liu, AK Irwanto, D Kang, KY Yoo, DY Noh, FJ Couch, JE Olson, XS Wang, Z Fredericksen, BG Nordestgaard, SE Bojesen, H Flyger, S Margolin, A Lindblom, PA Fasching, R Schulz-Wendtland, AB Ekici, MW Beckmann, S Wang-Gohrke, CY Shen, JC Yu, HM Hsu, PE Wu, GG Giles, G Severi, L Baglietto, DR English, A Cox, I Brock, G Elliott, MWR Reed, J Beesley, XQ Chen, O Fletcher, L Gibson, ID Silva, J Peto, B Frank, J Heil, A Meindl, J Chang-Claude, R Hein, A Vrieling, D Flesch-Janys, MC Southey, L (Letitia) Smith, C Apicella, JL Hopper, AM Dunning, KA Pooley, PDP Pharoah, U Hamann, B Pesch, YD Ko, DF Easton, G Chenevix-Trench

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

5 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	Undefined/Unknown
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
Publication status	Published - 2011

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EMC MM-03-86-01

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This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1136/jmedgenet-2011-100303

http://hdl.handle.net/1765/70316

Cite this

Milne, RL., Lorenzo-Bermejo, J., Burwinkel, B., Malats, N., Arias, JI., Zamora, MP., Benitez, J., Humphreys, MK., Garcia-Closas, M., Chanock, SJ., Lissowska, J., Sherman, ME., Mannermaa, A., Kataja, V., Kosma, VM., Nevanlinna, H., Heikkinen, T., Aittomaki, 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

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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 = "RL Milne and J Lorenzo-Bermejo and B Burwinkel and N Malats and JI Arias and MP Zamora and J Benitez and MK Humphreys and M Garcia-Closas and SJ Chanock and J Lissowska and ME Sherman and A Mannermaa and V Kataja and VM Kosma and H Nevanlinna and T Heikkinen and K Aittomaki and C Blomqvist and H Anton-Culver and A Ziogas and P Devilee and {van Asperen}, CJ and RAEM Tollenaar and Caroline Seynaeve and P Hall and K Czene and JJ Liu and AK Irwanto and D Kang and KY Yoo and DY Noh and FJ Couch and JE Olson and XS Wang and Z Fredericksen and BG Nordestgaard and SE Bojesen and H Flyger and S Margolin and A Lindblom and PA Fasching and R Schulz-Wendtland and AB Ekici and MW Beckmann and S Wang-Gohrke and CY Shen and JC Yu and HM Hsu and PE Wu and GG Giles and G Severi and L Baglietto and DR English and A Cox and I Brock and G Elliott and MWR Reed and J Beesley and XQ Chen and O Fletcher and L Gibson and ID Silva and J Peto and B Frank and J Heil and A Meindl and J Chang-Claude and R Hein and A Vrieling and D Flesch-Janys and MC Southey and Smith, {L (Letitia)} and C Apicella and JL Hopper and AM Dunning and KA Pooley and PDP Pharoah and U Hamann and B Pesch and YD Ko and DF Easton and G Chenevix-Trench",

year = "2011",

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

language = "Undefined/Unknown",

volume = "48",

pages = "698--702",

journal = "Journal of Medical Genetics",

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Milne, RL, Lorenzo-Bermejo, J, Burwinkel, B, Malats, N, Arias, JI, Zamora, MP, Benitez, J, Humphreys, MK, Garcia-Closas, M, Chanock, SJ, Lissowska, J, Sherman, ME, Mannermaa, A, Kataja, V, Kosma, VM, Nevanlinna, H, Heikkinen, T, Aittomaki, K, Blomqvist, C, Anton-Culver, H, Ziogas, A, Devilee, P, van Asperen, CJ, Tollenaar, RAEM, Seynaeve, C, Hall, P, Czene, K, Liu, JJ, Irwanto, AK, Kang, D, Yoo, KY, Noh, DY, Couch, FJ, Olson, JE, Wang, XS, 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, XQ, Fletcher, O, Gibson, L, Silva, ID, 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

TY - JOUR

T1 - 7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium

AU - Milne, RL

AU - Lorenzo-Bermejo, J

AU - Burwinkel, B

AU - Malats, N

AU - Arias, JI

AU - Zamora, MP

AU - Benitez, J

AU - Humphreys, MK

AU - Garcia-Closas, M

AU - Chanock, SJ

AU - Lissowska, J

AU - Sherman, ME

AU - Mannermaa, A

AU - Kataja, V

AU - Kosma, VM

AU - Nevanlinna, H

AU - Heikkinen, T

AU - Aittomaki, K

AU - Blomqvist, C

AU - Anton-Culver, H

AU - Ziogas, A

AU - Devilee, P

AU - van Asperen, CJ

AU - Tollenaar, RAEM

AU - Seynaeve, Caroline

AU - Hall, P

AU - Czene, K

AU - Liu, JJ

AU - Irwanto, AK

AU - Kang, D

AU - Yoo, KY

AU - Noh, DY

AU - Couch, FJ

AU - Olson, JE

AU - Wang, XS

AU - Fredericksen, Z

AU - Nordestgaard, BG

AU - Bojesen, SE

AU - Flyger, H

AU - Margolin, S

AU - Lindblom, A

AU - Fasching, PA

AU - Schulz-Wendtland, R

AU - Ekici, AB

AU - Beckmann, MW

AU - Wang-Gohrke, S

AU - Shen, CY

AU - Yu, JC

AU - Hsu, HM

AU - Wu, PE

AU - Giles, GG

AU - Severi, G

AU - Baglietto, L

AU - English, DR

AU - Cox, A

AU - Brock, I

AU - Elliott, G

AU - Reed, MWR

AU - Beesley, J

AU - Chen, XQ

AU - Fletcher, O

AU - Gibson, L

AU - Silva, ID

AU - Peto, J

AU - Frank, B

AU - Heil, J

AU - Meindl, A

AU - Chang-Claude, J

AU - Hein, R

AU - Vrieling, A

AU - Flesch-Janys, D

AU - Southey, MC

AU - Smith, L (Letitia)

AU - Apicella, C

AU - Hopper, JL

AU - Dunning, AM

AU - Pooley, KA

AU - Pharoah, PDP

AU - Hamann, U

AU - Pesch, B

AU - Ko, YD

AU - Easton, DF

AU - Chenevix-Trench, G

PY - 2011

Y1 - 2011

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 - Article

C2 - 21931171

SN - 0022-2593

VL - 48

SP - 698

EP - 702

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 10

ER -