Risk of Estrogen Receptor-Positive and -Negative Breast Cancer and Single-Nucleotide Polymorphism 2q35-rs13387042

RL Milne; J Benitez; H Nevanlinna; T Heikkinen; K Aittomaki; C Blomqvist; JI Arias; MP Zamora; B Burwinkel; CR Bartram; A Meindl; RK Schmutzler; A Cox; I Brock; G Elliott; MWR Reed; MC Southey; L (Letitia) Smith; AB Spurdle; JL Hopper; FJ Couch; JE Olson; XS Wang; Z Fredericksen; P Schurmann; M Bremer; P Hillemanns; T Dork; P Devilee; CJ van Asperen; RAEM Tollenaar; Caroline Seynaeve; P Hall; K Czene; JJ Liu; YQ Li; S (Shahana) Ahmed; AM Dunning; M Maranian; PDP Pharoah; G Chenevix-Trench; J Beesley; NV Bogdanova; NN Antonenkova; IV Zalutsky; H Anton-Culver; A Ziogas; H Brauch; C Justenhoven; YD Ko; S Haas; PA Fasching; R Strick; AB Ekici; MW Beckmann; GG Giles; G Severi; L Baglietto; DR English; O Fletcher; N Johnson; ID Silva; J Peto; C Turnbull; S Hines; A Renwick; N Rahman; BG Nordestgaard; SE Bojesen; H Flyger; D Kang; KY Yoo; DY Noh; A Mannermaa; V Kataja; VM Kosma; M Garcia-Closas; S Chanock; J Lissowska; LA Brinton; J Chang-Claude; S Wang-Gohrke; CY Shen; HC Wang; JC Yu; ST Chen; M Bermisheva; T Nikolaeva; E Khusnutdinova; MK Humphreys; J Morrison; R Platte; DF Easton

doi:10.1093/jnci/djp167

Risk of Estrogen Receptor-Positive and -Negative Breast Cancer and Single-Nucleotide Polymorphism 2q35-rs13387042

RL Milne, J Benitez, H Nevanlinna, T Heikkinen, K Aittomaki, C Blomqvist, JI Arias, MP Zamora, B Burwinkel, CR Bartram, A Meindl, RK Schmutzler, A Cox, I Brock, G Elliott, MWR Reed, MC Southey, L (Letitia) Smith, AB Spurdle, JL HopperFJ Couch, JE Olson, XS Wang, Z Fredericksen, P Schurmann, M Bremer, P Hillemanns, T Dork, P Devilee, CJ van Asperen, RAEM Tollenaar, Caroline Seynaeve, P Hall, K Czene, JJ Liu, YQ Li, S (Shahana) Ahmed, AM Dunning, M Maranian, PDP Pharoah, G Chenevix-Trench, J Beesley, NV Bogdanova, NN Antonenkova, IV Zalutsky, H Anton-Culver, A Ziogas, H Brauch, C Justenhoven, YD Ko, S Haas, PA Fasching, R Strick, AB Ekici, MW Beckmann, GG Giles, G Severi, L Baglietto, DR English, O Fletcher, N Johnson, ID Silva, J Peto, C Turnbull, S Hines, A Renwick, N Rahman, BG Nordestgaard, SE Bojesen, H Flyger, D Kang, KY Yoo, DY Noh, A Mannermaa, V Kataja, VM Kosma, M Garcia-Closas, S Chanock, J Lissowska, LA Brinton, J Chang-Claude, S Wang-Gohrke, CY Shen, HC Wang, JC Yu, ST Chen, M Bermisheva, T Nikolaeva, E Khusnutdinova, MK Humphreys, J Morrison, R Platte, DF Easton

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

97 Citations (Scopus)

Abstract

A recent genome-wide association study identified single-nucleotide polymorphism (SNP) 2q35-rs13387042 as a marker of susceptibility to estrogen receptor (ER)-positive breast cancer. We attempted to confirm this association using the Breast Cancer Association Consortium. 2q35-rs13387042 SNP was genotyped for 31 510 women with invasive breast cancer, 1101 women with ductal carcinoma in situ, and 35 969 female control subjects from 25 studies. Odds ratios (ORs) were estimated by logistic regression, adjusted for study. Heterogeneity in odds ratios by each of age, ethnicity, and study was assessed by fitting interaction terms. Heterogeneity by each of invasiveness, family history, bilaterality, and hormone receptor status was assessed by subclassifying case patients and applying polytomous logistic regression. All statistical tests were two-sided. We found strong evidence of association between rs13387042 and breast cancer in white women of European origin (per-allele OR = 1.12, 95% confidence interval [CI] = 1.09 to 1.15; P-trend = 1.0 x 10(-19)). The odds ratio was lower than that previously reported (P = .02) and did not vary by age or ethnicity (all P >= .2). However, it was higher when the analysis was restricted to case patients who were selected for a strong family history (P = .02). An association was observed for both ER-positive (OR = 1.14, 95% CI = 1.10 to 1.17; P = 10(-15)) and ER-negative disease (OR = 1.10, 95% CI = 1.04 to 1.15; P = .0003) and both progesterone receptor (PR)-positive (OR = 1.15, 95% CI = 1.11 to 1.19; P = 5 x 10(-14)) and PR-negative disease (OR = 1.10, 95% CI = 1.06 to 1.15; P = .00002). The rs13387042 is associated with both ER-positive and ER-negative breast cancer in European women.

Original language	Undefined/Unknown
Pages (from-to)	1012-1018
Number of pages	7
Journal	Journal of the National Cancer Institute
Volume	101
Issue number	14
DOIs	https://doi.org/10.1093/jnci/djp167
Publication status	Published - 2009

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10.1093/jnci/djp167

http://hdl.handle.net/1765/24688

Cite this

Milne, RL., Benitez, J., Nevanlinna, H., Heikkinen, T., Aittomaki, K., Blomqvist, C., Arias, JI., Zamora, MP., Burwinkel, B., Bartram, CR., Meindl, A., Schmutzler, RK., Cox, A., Brock, I., Elliott, G., Reed, MWR., Southey, MC., Smith, L., Spurdle, AB., ... Easton, DF. (2009). Risk of Estrogen Receptor-Positive and -Negative Breast Cancer and Single-Nucleotide Polymorphism 2q35-rs13387042. Journal of the National Cancer Institute, 101(14), 1012-1018. https://doi.org/10.1093/jnci/djp167

@article{578f64ed03dd4091b1fd0b348d5963a6,

title = "Risk of Estrogen Receptor-Positive and -Negative Breast Cancer and Single-Nucleotide Polymorphism 2q35-rs13387042",

abstract = "A recent genome-wide association study identified single-nucleotide polymorphism (SNP) 2q35-rs13387042 as a marker of susceptibility to estrogen receptor (ER)-positive breast cancer. We attempted to confirm this association using the Breast Cancer Association Consortium. 2q35-rs13387042 SNP was genotyped for 31 510 women with invasive breast cancer, 1101 women with ductal carcinoma in situ, and 35 969 female control subjects from 25 studies. Odds ratios (ORs) were estimated by logistic regression, adjusted for study. Heterogeneity in odds ratios by each of age, ethnicity, and study was assessed by fitting interaction terms. Heterogeneity by each of invasiveness, family history, bilaterality, and hormone receptor status was assessed by subclassifying case patients and applying polytomous logistic regression. All statistical tests were two-sided. We found strong evidence of association between rs13387042 and breast cancer in white women of European origin (per-allele OR = 1.12, 95% confidence interval [CI] = 1.09 to 1.15; P-trend = 1.0 x 10(-19)). The odds ratio was lower than that previously reported (P = .02) and did not vary by age or ethnicity (all P >= .2). However, it was higher when the analysis was restricted to case patients who were selected for a strong family history (P = .02). An association was observed for both ER-positive (OR = 1.14, 95% CI = 1.10 to 1.17; P = 10(-15)) and ER-negative disease (OR = 1.10, 95% CI = 1.04 to 1.15; P = .0003) and both progesterone receptor (PR)-positive (OR = 1.15, 95% CI = 1.11 to 1.19; P = 5 x 10(-14)) and PR-negative disease (OR = 1.10, 95% CI = 1.06 to 1.15; P = .00002). The rs13387042 is associated with both ER-positive and ER-negative breast cancer in European women.",

author = "RL Milne and J Benitez and H Nevanlinna and T Heikkinen and K Aittomaki and C Blomqvist and JI Arias and MP Zamora and B Burwinkel and CR Bartram and A Meindl and RK Schmutzler and A Cox and I Brock and G Elliott and MWR Reed and MC Southey and Smith, {L (Letitia)} and AB Spurdle and JL Hopper and FJ Couch and JE Olson and XS Wang and Z Fredericksen and P Schurmann and M Bremer and P Hillemanns and T Dork and P Devilee and {van Asperen}, CJ and RAEM Tollenaar and Caroline Seynaeve and P Hall and K Czene and JJ Liu and YQ Li and Ahmed, {S (Shahana)} and AM Dunning and M Maranian and PDP Pharoah and G Chenevix-Trench and J Beesley and NV Bogdanova and NN Antonenkova and IV Zalutsky and H Anton-Culver and A Ziogas and H Brauch and C Justenhoven and YD Ko and S Haas and PA Fasching and R Strick and AB Ekici and MW Beckmann and GG Giles and G Severi and L Baglietto and DR English and O Fletcher and N Johnson and ID Silva and J Peto and C Turnbull and S Hines and A Renwick and N Rahman and BG Nordestgaard and SE Bojesen and H Flyger and D Kang and KY Yoo and DY Noh and A Mannermaa and V Kataja and VM Kosma and M Garcia-Closas and S Chanock and J Lissowska and LA Brinton and J Chang-Claude and S Wang-Gohrke and CY Shen and HC Wang and JC Yu and ST Chen and M Bermisheva and T Nikolaeva and E Khusnutdinova and MK Humphreys and J Morrison and R Platte and DF Easton",

year = "2009",

doi = "10.1093/jnci/djp167",

language = "Undefined/Unknown",

volume = "101",

pages = "1012--1018",

journal = "Journal of the National Cancer Institute",

issn = "0027-8874",

publisher = "Oxford University Press",

number = "14",

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Milne, RL, Benitez, J, Nevanlinna, H, Heikkinen, T, Aittomaki, K, Blomqvist, C, Arias, JI, Zamora, MP, Burwinkel, B, Bartram, CR, Meindl, A, Schmutzler, RK, Cox, A, Brock, I, Elliott, G, Reed, MWR, Southey, MC, Smith, L, Spurdle, AB, Hopper, JL, Couch, FJ, Olson, JE, Wang, XS, Fredericksen, Z, Schurmann, P, Bremer, M, Hillemanns, P, Dork, T, Devilee, P, van Asperen, CJ, Tollenaar, RAEM, Seynaeve, C, Hall, P, Czene, K, Liu, JJ, Li, YQ, Ahmed, S, Dunning, AM, Maranian, M, Pharoah, PDP, Chenevix-Trench, G, Beesley, J, Bogdanova, NV, Antonenkova, NN, Zalutsky, IV, Anton-Culver, H, Ziogas, A, Brauch, H, Justenhoven, C, Ko, YD, Haas, S, Fasching, PA, Strick, R, Ekici, AB, Beckmann, MW, Giles, GG, Severi, G, Baglietto, L, English, DR, Fletcher, O, Johnson, N, Silva, ID, Peto, J, Turnbull, C, Hines, S, Renwick, A, Rahman, N, Nordestgaard, BG, Bojesen, SE, Flyger, H, Kang, D, Yoo, KY, Noh, DY, Mannermaa, A, Kataja, V, Kosma, VM, Garcia-Closas, M, Chanock, S, Lissowska, J, Brinton, LA, Chang-Claude, J, Wang-Gohrke, S, Shen, CY, Wang, HC, Yu, JC, Chen, ST, Bermisheva, M, Nikolaeva, T, Khusnutdinova, E, Humphreys, MK, Morrison, J, Platte, R & Easton, DF 2009, 'Risk of Estrogen Receptor-Positive and -Negative Breast Cancer and Single-Nucleotide Polymorphism 2q35-rs13387042', Journal of the National Cancer Institute, vol. 101, no. 14, pp. 1012-1018. https://doi.org/10.1093/jnci/djp167

TY - JOUR

T1 - Risk of Estrogen Receptor-Positive and -Negative Breast Cancer and Single-Nucleotide Polymorphism 2q35-rs13387042

AU - Milne, RL

AU - Benitez, J

AU - Nevanlinna, H

AU - Heikkinen, T

AU - Aittomaki, K

AU - Blomqvist, C

AU - Arias, JI

AU - Zamora, MP

AU - Burwinkel, B

AU - Bartram, CR

AU - Meindl, A

AU - Schmutzler, RK

AU - Cox, A

AU - Brock, I

AU - Elliott, G

AU - Reed, MWR

AU - Southey, MC

AU - Smith, L (Letitia)

AU - Spurdle, AB

AU - Hopper, JL

AU - Couch, FJ

AU - Olson, JE

AU - Wang, XS

AU - Fredericksen, Z

AU - Schurmann, P

AU - Bremer, M

AU - Hillemanns, P

AU - Dork, T

AU - Devilee, P

AU - van Asperen, CJ

AU - Tollenaar, RAEM

AU - Seynaeve, Caroline

AU - Hall, P

AU - Czene, K

AU - Liu, JJ

AU - Li, YQ

AU - Ahmed, S (Shahana)

AU - Dunning, AM

AU - Maranian, M

AU - Pharoah, PDP

AU - Chenevix-Trench, G

AU - Beesley, J

AU - Bogdanova, NV

AU - Antonenkova, NN

AU - Zalutsky, IV

AU - Anton-Culver, H

AU - Ziogas, A

AU - Brauch, H

AU - Justenhoven, C

AU - Ko, YD

AU - Haas, S

AU - Fasching, PA

AU - Strick, R

AU - Ekici, AB

AU - Beckmann, MW

AU - Giles, GG

AU - Severi, G

AU - Baglietto, L

AU - English, DR

AU - Fletcher, O

AU - Johnson, N

AU - Silva, ID

AU - Peto, J

AU - Turnbull, C

AU - Hines, S

AU - Renwick, A

AU - Rahman, N

AU - Nordestgaard, BG

AU - Bojesen, SE

AU - Flyger, H

AU - Kang, D

AU - Yoo, KY

AU - Noh, DY

AU - Mannermaa, A

AU - Kataja, V

AU - Kosma, VM

AU - Garcia-Closas, M

AU - Chanock, S

AU - Lissowska, J

AU - Brinton, LA

AU - Chang-Claude, J

AU - Wang-Gohrke, S

AU - Shen, CY

AU - Wang, HC

AU - Yu, JC

AU - Chen, ST

AU - Bermisheva, M

AU - Nikolaeva, T

AU - Khusnutdinova, E

AU - Humphreys, MK

AU - Morrison, J

AU - Platte, R

AU - Easton, DF

PY - 2009

Y1 - 2009

N2 - A recent genome-wide association study identified single-nucleotide polymorphism (SNP) 2q35-rs13387042 as a marker of susceptibility to estrogen receptor (ER)-positive breast cancer. We attempted to confirm this association using the Breast Cancer Association Consortium. 2q35-rs13387042 SNP was genotyped for 31 510 women with invasive breast cancer, 1101 women with ductal carcinoma in situ, and 35 969 female control subjects from 25 studies. Odds ratios (ORs) were estimated by logistic regression, adjusted for study. Heterogeneity in odds ratios by each of age, ethnicity, and study was assessed by fitting interaction terms. Heterogeneity by each of invasiveness, family history, bilaterality, and hormone receptor status was assessed by subclassifying case patients and applying polytomous logistic regression. All statistical tests were two-sided. We found strong evidence of association between rs13387042 and breast cancer in white women of European origin (per-allele OR = 1.12, 95% confidence interval [CI] = 1.09 to 1.15; P-trend = 1.0 x 10(-19)). The odds ratio was lower than that previously reported (P = .02) and did not vary by age or ethnicity (all P >= .2). However, it was higher when the analysis was restricted to case patients who were selected for a strong family history (P = .02). An association was observed for both ER-positive (OR = 1.14, 95% CI = 1.10 to 1.17; P = 10(-15)) and ER-negative disease (OR = 1.10, 95% CI = 1.04 to 1.15; P = .0003) and both progesterone receptor (PR)-positive (OR = 1.15, 95% CI = 1.11 to 1.19; P = 5 x 10(-14)) and PR-negative disease (OR = 1.10, 95% CI = 1.06 to 1.15; P = .00002). The rs13387042 is associated with both ER-positive and ER-negative breast cancer in European women.

AB - A recent genome-wide association study identified single-nucleotide polymorphism (SNP) 2q35-rs13387042 as a marker of susceptibility to estrogen receptor (ER)-positive breast cancer. We attempted to confirm this association using the Breast Cancer Association Consortium. 2q35-rs13387042 SNP was genotyped for 31 510 women with invasive breast cancer, 1101 women with ductal carcinoma in situ, and 35 969 female control subjects from 25 studies. Odds ratios (ORs) were estimated by logistic regression, adjusted for study. Heterogeneity in odds ratios by each of age, ethnicity, and study was assessed by fitting interaction terms. Heterogeneity by each of invasiveness, family history, bilaterality, and hormone receptor status was assessed by subclassifying case patients and applying polytomous logistic regression. All statistical tests were two-sided. We found strong evidence of association between rs13387042 and breast cancer in white women of European origin (per-allele OR = 1.12, 95% confidence interval [CI] = 1.09 to 1.15; P-trend = 1.0 x 10(-19)). The odds ratio was lower than that previously reported (P = .02) and did not vary by age or ethnicity (all P >= .2). However, it was higher when the analysis was restricted to case patients who were selected for a strong family history (P = .02). An association was observed for both ER-positive (OR = 1.14, 95% CI = 1.10 to 1.17; P = 10(-15)) and ER-negative disease (OR = 1.10, 95% CI = 1.04 to 1.15; P = .0003) and both progesterone receptor (PR)-positive (OR = 1.15, 95% CI = 1.11 to 1.19; P = 5 x 10(-14)) and PR-negative disease (OR = 1.10, 95% CI = 1.06 to 1.15; P = .00002). The rs13387042 is associated with both ER-positive and ER-negative breast cancer in European women.

U2 - 10.1093/jnci/djp167

DO - 10.1093/jnci/djp167

M3 - Article

SN - 0027-8874

VL - 101

SP - 1012

EP - 1018

JO - Journal of the National Cancer Institute

JF - Journal of the National Cancer Institute

IS - 14

ER -