Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium

Mia M Gaudet; Roger L Milne; Angela Cox; Nicola J Camp; Ellen L Goode; Manjeet K Humphreys; Alison M Dunning; Jonathan Morrison; Graham G Giles; Gianluca Severi; Laura Baglietto; Dallas R English; Fergus J Couch; Janet E Olson; Xianshu Wang; Jenny Chang-Claude; Dieter Flesch-Janys; Sascha Abbas; Ramona Salazar; Arto Mannermaa; Vesa Kataja; Veli-Matti Kosma; Annika Lindblom; Sara Margolin; Tuomas Heikkinen; Kati Kämpjärvi; Kirsimari Aaltonen; Heli Nevanlinna; Natalia Bogdanova; Irina Coinac; Peter Schürmann; Thilo Dörk; Claus R Bartram; Rita K Schmutzler; Sandrine Tchatchou; Barbara Burwinkel; Hiltrud Brauch; Diana Torres; Ute Hamann; Christina Justenhoven; Gloria Ribas; José I Arias; Javier Benitez; Stig E Bojesen; Børge G Nordestgaard; Henrik L Flyger; Julian Peto; Olivia Fletcher; Nichola Johnson; Isabel Dos Santos Silva; Australian Ovarian Cancer Study Group; Breast Cancer Association Consortium

doi:10.1158/1055-9965.EPI-08-0745

Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium

Mia M Gaudet, Roger L Milne, Angela Cox, Nicola J Camp, Ellen L Goode, Manjeet K Humphreys, Alison M Dunning, Jonathan Morrison, Graham G Giles, Gianluca Severi, Laura Baglietto, Dallas R English, Fergus J Couch, Janet E Olson, Xianshu Wang, Jenny Chang-Claude, Dieter Flesch-Janys, Sascha Abbas, Ramona Salazar, Arto MannermaaVesa Kataja, Veli-Matti Kosma, Annika Lindblom, Sara Margolin, Tuomas Heikkinen, Kati Kämpjärvi, Kirsimari Aaltonen, Heli Nevanlinna, Natalia Bogdanova, Irina Coinac, Peter Schürmann, Thilo Dörk, Claus R Bartram, Rita K Schmutzler, Sandrine Tchatchou, Barbara Burwinkel, Hiltrud Brauch, Diana Torres, Ute Hamann, Christina Justenhoven, Gloria Ribas, José I Arias, Javier Benitez, Stig E Bojesen, Børge G Nordestgaard, Henrik L Flyger, Julian Peto, Olivia Fletcher, Nichola Johnson, Isabel Dos Santos Silva, Australian Ovarian Cancer Study Group, Breast Cancer Association Consortium

Department of Clinical Medicine

53 Citations (Scopus)

Abstract

Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361525, CASP10 rs13010627, PGR rs1042838, and BID rs8190315 may influence breast cancer risk, but the evidence is inconclusive due to their small sample size. These polymorphisms were genotyped in more than 30,000 breast cancer cases and 30,000 controls, primarily of European descent, from 30 studies in the Breast Cancer Association Consortium. We calculated odds ratios (OR) and 95% confidence intervals (95% CI) as a measure of association. We found that the minor alleles for these polymorphisms were not related to invasive breast cancer risk overall in women of European descent: ECCR4 per-allele OR (95% CI) = 0.99 (0.97-1.02), minor allele frequency = 27.5%; TNF 1.00 (0.95-1.06), 5.0%; CASP10 1.02 (0.98-1.07), 6.5%; PGR 1.02 (0.99-1.06), 15.3%; and BID 0.98 (0.86-1.12), 1.7%. However, we observed significant between-study heterogeneity for associations with risk for single-nucleotide polymorphisms (SNP) in CASP10, PGR, and BID. Estimates were imprecise for women of Asian and African descent due to small numbers and lower minor allele frequencies (with the exception of BID SNP). The ORs for each copy of the minor allele were not significantly different by estrogen or progesterone receptor status, nor were any significant interactions found between the polymorphisms and age or family history of breast cancer. In conclusion, our data provide persuasive evidence against an overall association between invasive breast cancer risk and ERCC4 rs744154, TNF rs361525, CASP10 rs13010627, PGR rs1042838, and BID rs8190315 genotypes among women of European descent.

Original language	English
Journal	Cancer Epidemiology, Biomarkers & Prevention
Volume	18
Issue number	5
Pages (from-to)	1610-6
Number of pages	7
ISSN	1055-9965
DOIs	https://doi.org/10.1158/1055-9965.EPI-08-0745
Publication status	Published - 2009

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10.1158/1055-9965.EPI-08-0745

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Gaudet, M. M., Milne, R. L., Cox, A., Camp, N. J., Goode, E. L., Humphreys, M. K., Dunning, A. M., Morrison, J., Giles, G. G., Severi, G., Baglietto, L., English, D. R., Couch, F. J., Olson, J. E., Wang, X., Chang-Claude, J., Flesch-Janys, D., Abbas, S., Salazar, R., ... Breast Cancer Association Consortium (2009). Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium. Cancer Epidemiology, Biomarkers & Prevention, 18(5), 1610-6. https://doi.org/10.1158/1055-9965.EPI-08-0745

Gaudet, MM, Milne, RL, Cox, A, Camp, NJ, Goode, EL, Humphreys, MK, Dunning, AM, Morrison, J, Giles, GG, Severi, G, Baglietto, L, English, DR, Couch, FJ, Olson, JE, Wang, X, Chang-Claude, J, Flesch-Janys, D, Abbas, S, Salazar, R, Mannermaa, A, Kataja, V, Kosma, V-M, Lindblom, A, Margolin, S, Heikkinen, T, Kämpjärvi, K, Aaltonen, K, Nevanlinna, H, Bogdanova, N, Coinac, I, Schürmann, P, Dörk, T, Bartram, CR, Schmutzler, RK, Tchatchou, S, Burwinkel, B, Brauch, H, Torres, D, Hamann, U, Justenhoven, C, Ribas, G, Arias, JI, Benitez, J, Bojesen, SE, Nordestgaard, BG, Flyger, HL, Peto, J, Fletcher, O, Johnson, N, Dos Santos Silva, I, Australian Ovarian Cancer Study Group & Breast Cancer Association Consortium 2009, 'Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium', Cancer Epidemiology, Biomarkers & Prevention, vol. 18, no. 5, pp. 1610-6. https://doi.org/10.1158/1055-9965.EPI-08-0745

@article{8aa35400829211df928f000ea68e967b,

title = "Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium",

abstract = "Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361525, CASP10 rs13010627, PGR rs1042838, and BID rs8190315 may influence breast cancer risk, but the evidence is inconclusive due to their small sample size. These polymorphisms were genotyped in more than 30,000 breast cancer cases and 30,000 controls, primarily of European descent, from 30 studies in the Breast Cancer Association Consortium. We calculated odds ratios (OR) and 95% confidence intervals (95% CI) as a measure of association. We found that the minor alleles for these polymorphisms were not related to invasive breast cancer risk overall in women of European descent: ECCR4 per-allele OR (95% CI) = 0.99 (0.97-1.02), minor allele frequency = 27.5%; TNF 1.00 (0.95-1.06), 5.0%; CASP10 1.02 (0.98-1.07), 6.5%; PGR 1.02 (0.99-1.06), 15.3%; and BID 0.98 (0.86-1.12), 1.7%. However, we observed significant between-study heterogeneity for associations with risk for single-nucleotide polymorphisms (SNP) in CASP10, PGR, and BID. Estimates were imprecise for women of Asian and African descent due to small numbers and lower minor allele frequencies (with the exception of BID SNP). The ORs for each copy of the minor allele were not significantly different by estrogen or progesterone receptor status, nor were any significant interactions found between the polymorphisms and age or family history of breast cancer. In conclusion, our data provide persuasive evidence against an overall association between invasive breast cancer risk and ERCC4 rs744154, TNF rs361525, CASP10 rs13010627, PGR rs1042838, and BID rs8190315 genotypes among women of European descent.",

author = "Gaudet, {Mia M} and Milne, {Roger L} and Angela Cox and Camp, {Nicola J} and Goode, {Ellen L} and Humphreys, {Manjeet K} and Dunning, {Alison M} and Jonathan Morrison and Giles, {Graham G} and Gianluca Severi and Laura Baglietto and English, {Dallas R} and Couch, {Fergus J} and Olson, {Janet E} and Xianshu Wang and Jenny Chang-Claude and Dieter Flesch-Janys and Sascha Abbas and Ramona Salazar and Arto Mannermaa and Vesa Kataja and Veli-Matti Kosma and Annika Lindblom and Sara Margolin and Tuomas Heikkinen and Kati K{\"a}mpj{\"a}rvi and Kirsimari Aaltonen and Heli Nevanlinna and Natalia Bogdanova and Irina Coinac and Peter Sch{\"u}rmann and Thilo D{\"o}rk and Bartram, {Claus R} and Schmutzler, {Rita K} and Sandrine Tchatchou and Barbara Burwinkel and Hiltrud Brauch and Diana Torres and Ute Hamann and Christina Justenhoven and Gloria Ribas and Arias, {Jos{\'e} I} and Javier Benitez and Bojesen, {Stig E} and Nordestgaard, {B{\o}rge G} and Flyger, {Henrik L} and Julian Peto and Olivia Fletcher and Nichola Johnson and {Dos Santos Silva}, Isabel and {Australian Ovarian Cancer Study Group} and {Breast Cancer Association Consortium}",

note = "Keywords: Alleles; BH3 Interacting Domain Death Agonist Protein; Breast Neoplasms; Case-Control Studies; Caspase 10; DNA-Binding Proteins; Europe; Female; Genetic Predisposition to Disease; Genotype; Humans; Intracellular Signaling Peptides and Proteins; Logistic Models; Nuclear Proteins; Polymorphism, Single Nucleotide; Risk; Tumor Necrosis Factor-alpha",

year = "2009",

doi = "10.1158/1055-9965.EPI-08-0745",

language = "English",

volume = "18",

pages = "1610--6",

journal = "Cancer Epidemiology, Biomarkers & Prevention",

issn = "1055-9965",

publisher = "American Association for Cancer Research (A A C R)",

number = "5",

}

TY - JOUR

T1 - Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium

AU - Gaudet, Mia M

AU - Milne, Roger L

AU - Cox, Angela

AU - Camp, Nicola J

AU - Goode, Ellen L

AU - Humphreys, Manjeet K

AU - Dunning, Alison M

AU - Morrison, Jonathan

AU - Giles, Graham G

AU - Severi, Gianluca

AU - Baglietto, Laura

AU - English, Dallas R

AU - Couch, Fergus J

AU - Olson, Janet E

AU - Wang, Xianshu

AU - Chang-Claude, Jenny

AU - Flesch-Janys, Dieter

AU - Abbas, Sascha

AU - Salazar, Ramona

AU - Mannermaa, Arto

AU - Kataja, Vesa

AU - Kosma, Veli-Matti

AU - Lindblom, Annika

AU - Margolin, Sara

AU - Heikkinen, Tuomas

AU - Kämpjärvi, Kati

AU - Aaltonen, Kirsimari

AU - Nevanlinna, Heli

AU - Bogdanova, Natalia

AU - Coinac, Irina

AU - Schürmann, Peter

AU - Dörk, Thilo

AU - Bartram, Claus R

AU - Schmutzler, Rita K

AU - Tchatchou, Sandrine

AU - Burwinkel, Barbara

AU - Brauch, Hiltrud

AU - Torres, Diana

AU - Hamann, Ute

AU - Justenhoven, Christina

AU - Ribas, Gloria

AU - Arias, José I

AU - Benitez, Javier

AU - Bojesen, Stig E

AU - Nordestgaard, Børge G

AU - Flyger, Henrik L

AU - Peto, Julian

AU - Fletcher, Olivia

AU - Johnson, Nichola

AU - Dos Santos Silva, Isabel

AU - Australian Ovarian Cancer Study Group

AU - Breast Cancer Association Consortium

N1 - Keywords: Alleles; BH3 Interacting Domain Death Agonist Protein; Breast Neoplasms; Case-Control Studies; Caspase 10; DNA-Binding Proteins; Europe; Female; Genetic Predisposition to Disease; Genotype; Humans; Intracellular Signaling Peptides and Proteins; Logistic Models; Nuclear Proteins; Polymorphism, Single Nucleotide; Risk; Tumor Necrosis Factor-alpha

PY - 2009

Y1 - 2009

N2 - Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361525, CASP10 rs13010627, PGR rs1042838, and BID rs8190315 may influence breast cancer risk, but the evidence is inconclusive due to their small sample size. These polymorphisms were genotyped in more than 30,000 breast cancer cases and 30,000 controls, primarily of European descent, from 30 studies in the Breast Cancer Association Consortium. We calculated odds ratios (OR) and 95% confidence intervals (95% CI) as a measure of association. We found that the minor alleles for these polymorphisms were not related to invasive breast cancer risk overall in women of European descent: ECCR4 per-allele OR (95% CI) = 0.99 (0.97-1.02), minor allele frequency = 27.5%; TNF 1.00 (0.95-1.06), 5.0%; CASP10 1.02 (0.98-1.07), 6.5%; PGR 1.02 (0.99-1.06), 15.3%; and BID 0.98 (0.86-1.12), 1.7%. However, we observed significant between-study heterogeneity for associations with risk for single-nucleotide polymorphisms (SNP) in CASP10, PGR, and BID. Estimates were imprecise for women of Asian and African descent due to small numbers and lower minor allele frequencies (with the exception of BID SNP). The ORs for each copy of the minor allele were not significantly different by estrogen or progesterone receptor status, nor were any significant interactions found between the polymorphisms and age or family history of breast cancer. In conclusion, our data provide persuasive evidence against an overall association between invasive breast cancer risk and ERCC4 rs744154, TNF rs361525, CASP10 rs13010627, PGR rs1042838, and BID rs8190315 genotypes among women of European descent.

AB - Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361525, CASP10 rs13010627, PGR rs1042838, and BID rs8190315 may influence breast cancer risk, but the evidence is inconclusive due to their small sample size. These polymorphisms were genotyped in more than 30,000 breast cancer cases and 30,000 controls, primarily of European descent, from 30 studies in the Breast Cancer Association Consortium. We calculated odds ratios (OR) and 95% confidence intervals (95% CI) as a measure of association. We found that the minor alleles for these polymorphisms were not related to invasive breast cancer risk overall in women of European descent: ECCR4 per-allele OR (95% CI) = 0.99 (0.97-1.02), minor allele frequency = 27.5%; TNF 1.00 (0.95-1.06), 5.0%; CASP10 1.02 (0.98-1.07), 6.5%; PGR 1.02 (0.99-1.06), 15.3%; and BID 0.98 (0.86-1.12), 1.7%. However, we observed significant between-study heterogeneity for associations with risk for single-nucleotide polymorphisms (SNP) in CASP10, PGR, and BID. Estimates were imprecise for women of Asian and African descent due to small numbers and lower minor allele frequencies (with the exception of BID SNP). The ORs for each copy of the minor allele were not significantly different by estrogen or progesterone receptor status, nor were any significant interactions found between the polymorphisms and age or family history of breast cancer. In conclusion, our data provide persuasive evidence against an overall association between invasive breast cancer risk and ERCC4 rs744154, TNF rs361525, CASP10 rs13010627, PGR rs1042838, and BID rs8190315 genotypes among women of European descent.

U2 - 10.1158/1055-9965.EPI-08-0745

DO - 10.1158/1055-9965.EPI-08-0745

M3 - Journal article

C2 - 19423537

SN - 1055-9965

VL - 18

SP - 1610

EP - 1616

JO - Cancer Epidemiology, Biomarkers & Prevention

JF - Cancer Epidemiology, Biomarkers & Prevention

IS - 5

ER -

Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium

Abstract

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