Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042

Roger L Milne; Javier Benítez; Heli Nevanlinna; Tuomas Heikkinen; Kristiina Aittomäki; Carl Blomqvist; José Ignacio Arias; M Pilar Zamora; Barbara Burwinkel; Claus R Bartram; Alfons Meindl; Rita K Schmutzler; Angela Cox; Ian Brock; Graeme Elliott; Malcolm W R Reed; Melissa C Southey; Letitia Smith; Amanda B Spurdle; John L Hopper; Fergus J Couch; Janet E Olson; Xianshu Wang; Zachary Fredericksen; Peter Schürmann; Michael Bremer; Peter Hillemanns; Thilo Dörk; Peter Devilee; Christie J van Asperen; Rob A E M Tollenaar; Caroline Seynaeve; Per Hall; Kamila Czene; Jianjun Liu; Yuqing Li; Shahana Ahmed; Alison M Dunning; Melanie Maranian; Paul D P Pharoah; Georgia Chenevix-Trench; Jonathan Beesley; kConFab Investigators; AOCS Group; Natalia V Bogdanova; Natalia N Antonenkova; Iosif V Zalutsky; Hoda Anton-Culver; Argyrios Ziogas; Hiltrud Brauch; Stig E Bojesen; Henrik Flyger; Breast Cancer Association Consortium

doi:10.1093/jnci/djp167

Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042

Roger L Milne, Javier Benítez, Heli Nevanlinna, Tuomas Heikkinen, Kristiina Aittomäki, Carl Blomqvist, José Ignacio Arias, M Pilar Zamora, Barbara Burwinkel, Claus R Bartram, Alfons Meindl, Rita K Schmutzler, Angela Cox, Ian Brock, Graeme Elliott, Malcolm W R Reed, Melissa C Southey, Letitia Smith, Amanda B Spurdle, John L HopperFergus J Couch, Janet E Olson, Xianshu Wang, Zachary Fredericksen, Peter Schürmann, Michael Bremer, Peter Hillemanns, Thilo Dörk, Peter Devilee, Christie J van Asperen, Rob A E M Tollenaar, Caroline Seynaeve, Per Hall, Kamila Czene, Jianjun Liu, Yuqing Li, Shahana Ahmed, Alison M Dunning, Melanie Maranian, Paul D P Pharoah, Georgia Chenevix-Trench, Jonathan Beesley, kConFab Investigators, AOCS Group, Natalia V Bogdanova, Natalia N Antonenkova, Iosif V Zalutsky, Hoda Anton-Culver, Argyrios Ziogas, Hiltrud Brauch, Stig E Bojesen, Henrik Flyger, Breast Cancer Association Consortium

Department of Clinical Medicine

94 Citations (Scopus)

Abstract

BACKGROUND: 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. METHODS: 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. RESULTS: 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 > or = .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). CONCLUSION: The rs13387042 is associated with both ER-positive and ER-negative breast cancer in European women.

Original language	English
Journal	JNCI - Journal of the National Cancer Institute
Volume	101
Issue number	14
Pages (from-to)	1012-8
Number of pages	7
ISSN	0027-8874
DOIs	https://doi.org/10.1093/jnci/djp167
Publication status	Published - 2009

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10.1093/jnci/djp167

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Milne, R. L., Benítez, J., Nevanlinna, H., Heikkinen, T., Aittomäki, K., Blomqvist, C., Arias, J. I., Zamora, M. P., Burwinkel, B., Bartram, C. R., Meindl, A., Schmutzler, R. K., Cox, A., Brock, I., Elliott, G., Reed, M. W. R., Southey, M. C., Smith, L., Spurdle, A. B., ... Breast Cancer Association Consortium (2009). Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. JNCI - Journal of the National Cancer Institute, 101(14), 1012-8. https://doi.org/10.1093/jnci/djp167

Milne, RL, Benítez, J, Nevanlinna, H, Heikkinen, T, Aittomäki, 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, X, Fredericksen, Z, Schürmann, P, Bremer, M, Hillemanns, P, Dörk, T, Devilee, P, van Asperen, CJ, Tollenaar, RAEM, Seynaeve, C, Hall, P, Czene, K, Liu, J, Li, Y, Ahmed, S, Dunning, AM, Maranian, M, Pharoah, PDP, Chenevix-Trench, G, Beesley, J, kConFab Investigators, AOCS Group, Bogdanova, NV, Antonenkova, NN, Zalutsky, IV, Anton-Culver, H, Ziogas, A, Brauch, H, Bojesen, SE, Flyger, H & Breast Cancer Association Consortium 2009, 'Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042', JNCI - Journal of the National Cancer Institute, vol. 101, no. 14, pp. 1012-8. https://doi.org/10.1093/jnci/djp167

@article{a0b38580829211df928f000ea68e967b,

title = "Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042",

abstract = "BACKGROUND: 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. METHODS: 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. RESULTS: 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 > or = .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). CONCLUSION: The rs13387042 is associated with both ER-positive and ER-negative breast cancer in European women.",

author = "Milne, {Roger L} and Javier Ben{\'i}tez and Heli Nevanlinna and Tuomas Heikkinen and Kristiina Aittom{\"a}ki and Carl Blomqvist and Arias, {Jos{\'e} Ignacio} and Zamora, {M Pilar} and Barbara Burwinkel and Bartram, {Claus R} and Alfons Meindl and Schmutzler, {Rita K} and Angela Cox and Ian Brock and Graeme Elliott and Reed, {Malcolm W R} and Southey, {Melissa C} and Letitia Smith and Spurdle, {Amanda B} and Hopper, {John L} and Couch, {Fergus J} and Olson, {Janet E} and Xianshu Wang and Zachary Fredericksen and Peter Sch{\"u}rmann and Michael Bremer and Peter Hillemanns and Thilo D{\"o}rk 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 Yuqing Li and Shahana Ahmed and Dunning, {Alison M} and Melanie Maranian and Pharoah, {Paul D P} and Georgia Chenevix-Trench and Jonathan Beesley and {kConFab Investigators} and {AOCS Group} and Bogdanova, {Natalia V} and Antonenkova, {Natalia N} and Zalutsky, {Iosif V} and Hoda Anton-Culver and Argyrios Ziogas and Hiltrud Brauch and Bojesen, {Stig E} and Henrik Flyger and {Breast Cancer Association Consortium}",

note = "Keywords: Adult; Aged; Asian Continental Ancestry Group; Breast Neoplasms; Carcinoma, Ductal, Breast; Carcinoma, Intraductal, Noninfiltrating; Case-Control Studies; Confidence Intervals; Confounding Factors (Epidemiology); European Continental Ancestry Group; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Linkage Disequilibrium; Middle Aged; Neoplasms, Hormone-Dependent; Odds Ratio; Polymorphism, Single Nucleotide; Receptors, Estrogen; Receptors, Progesterone; Tumor Markers, Biological",

year = "2009",

doi = "10.1093/jnci/djp167",

language = "English",

volume = "101",

pages = "1012--8",

journal = "JNCI - Journal of the National Cancer Institute",

issn = "0027-8874",

publisher = "Oxford University Press",

number = "14",

}

TY - JOUR

T1 - Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042

AU - Milne, Roger L

AU - Benítez, Javier

AU - Nevanlinna, Heli

AU - Heikkinen, Tuomas

AU - Aittomäki, Kristiina

AU - Blomqvist, Carl

AU - Arias, José Ignacio

AU - Zamora, M Pilar

AU - Burwinkel, Barbara

AU - Bartram, Claus R

AU - Meindl, Alfons

AU - Schmutzler, Rita K

AU - Cox, Angela

AU - Brock, Ian

AU - Elliott, Graeme

AU - Reed, Malcolm W R

AU - Southey, Melissa C

AU - Smith, Letitia

AU - Spurdle, Amanda B

AU - Hopper, John L

AU - Couch, Fergus J

AU - Olson, Janet E

AU - Wang, Xianshu

AU - Fredericksen, Zachary

AU - Schürmann, Peter

AU - Bremer, Michael

AU - Hillemanns, Peter

AU - Dörk, Thilo

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 - Li, Yuqing

AU - Ahmed, Shahana

AU - Dunning, Alison M

AU - Maranian, Melanie

AU - Pharoah, Paul D P

AU - Chenevix-Trench, Georgia

AU - Beesley, Jonathan

AU - kConFab Investigators

AU - AOCS Group

AU - Bogdanova, Natalia V

AU - Antonenkova, Natalia N

AU - Zalutsky, Iosif V

AU - Anton-Culver, Hoda

AU - Ziogas, Argyrios

AU - Brauch, Hiltrud

AU - Bojesen, Stig E

AU - Flyger, Henrik

AU - Breast Cancer Association Consortium

N1 - Keywords: Adult; Aged; Asian Continental Ancestry Group; Breast Neoplasms; Carcinoma, Ductal, Breast; Carcinoma, Intraductal, Noninfiltrating; Case-Control Studies; Confidence Intervals; Confounding Factors (Epidemiology); European Continental Ancestry Group; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Linkage Disequilibrium; Middle Aged; Neoplasms, Hormone-Dependent; Odds Ratio; Polymorphism, Single Nucleotide; Receptors, Estrogen; Receptors, Progesterone; Tumor Markers, Biological

PY - 2009

Y1 - 2009

N2 - BACKGROUND: 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. METHODS: 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. RESULTS: 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 > or = .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). CONCLUSION: The rs13387042 is associated with both ER-positive and ER-negative breast cancer in European women.

AB - BACKGROUND: 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. METHODS: 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. RESULTS: 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 > or = .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). CONCLUSION: 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 - Journal article

C2 - 19567422

SN - 0027-8874

VL - 101

SP - 1012

EP - 1018

JO - JNCI - Journal of the National Cancer Institute

JF - JNCI - Journal of the National Cancer Institute

IS - 14

ER -

Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042

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