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, Peter A. Fasching, Matthias W. Beckmann, Reiner Strick, Arif B. Ekici, Annegien Broeks, Marjanka K. Schmidt, Flora E. Van Leeuwen, Laura J. Van't Veer, Melissa C. Southey, John L. Hopper, Carmel Apicella, Christopher A. Haiman, Brian E. Henderson, Loic Le Marchand, Laurence N. Kolonel, Vessela Kristensen, Grethe Grenaker Alnæs, David J. Hunter, Peter Kraft, David G. Cox, Susan E. Hankinson, Caroline Seynaeve, Maaike P G Vreeswijk, Rob A E M Tollenaar, Peter Devilee, Stephen Chanock, Jolanta Lissowska, Louise Brinton, Beata Peplonska, Kamila Czene, Per Hall, Yuqing Li, Jianjun Liu, Sabapathy Balasubramanian, Saeed Rafii, Malcolm W R Reed, Karen A. Pooley, Don Conroy, Caroline Baynes, Daehee Kang, Keun Young Yoo, Dong Young Noh, Sei Hyun Ahn, Chen Yang Shen, Hui Chun Wang, Jyh Cherng Yu, Pei Ei Wu, Hoda Anton-Culver, Argyrios Ziogoas, Kathleen Egan, Polly Newcomb, Linda Titus-Ernstoff, Amy Trentham Dietz, Alice J. Sigurdson, Bruce H. Alexander, Parveen Bhatti, Kristina Allen-Brady, Lisa A. Cannon-Albright, Jathine Wong, Georgia Chenevix-Trench, Amanda B. Spurdle, Jonathan Beesley, Paul D P Pharoah, Doug F. Easton, Montserrat Garcia-Closas

Research output: Contribution to journalArticle

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 languageEnglish (US)
Pages (from-to)1610-1616
Number of pages7
JournalCancer Epidemiology Biomarkers and Prevention
Volume18
Issue number5
DOIs
StatePublished - May 2009
Externally publishedYes

Fingerprint

Breast Neoplasms
Alleles
Gene Frequency
Single Nucleotide Polymorphism
Odds Ratio
Confidence Intervals
Progesterone Receptors
Estrogen Receptors
Sample Size
Genotype

ASJC Scopus subject areas

  • Epidemiology
  • Oncology

Cite this

Gaudet, M. M., Milne, R. L., Cox, A., Camp, N. J., Goode, E. L., Humphreys, M. K., ... Garcia-Closas, M. (2009). Five polymorphisms and breast cancer risk: Results from the breast cancer association consortium. Cancer Epidemiology Biomarkers and Prevention, 18(5), 1610-1616. https://doi.org/10.1158/1055-9965.EPI-08-0745

Five polymorphisms and breast cancer risk : Results from the breast cancer association consortium. / Gaudet, Mia M.; Milne, Roger L.; Cox, Angela; Camp, Nicola J.; Goode, Ellen L.; Humphreys, Manjeet K.; Dunning, Alison M.; Morrison, Jonathan; Giles, Graham G.; Severi, Gianluca; Baglietto, Laura; English, Dallas R.; Couch, Fergus J.; Olson, Janet E.; Wang, Xianshu; Chang-Claude, Jenny; Flesch-Janys, Dieter; Abbas, Sascha; Salazar, Ramona; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli Matti; Lindblom, Annika; Margolin, Sara; Heikkinen, Tuomas; Kämpjärvi, Kati; Aaltonen, Kirsimari; Nevanlinna, Heli; Bogdanova, Natalia; Coinac, Irina; Schürmann, Peter; Dörk, Thilo; Bartram, Claus R.; Schmutzler, Rita K.; Tchatchou, Sandrine; Burwinkel, Barbara; Brauch, Hiltrud; Torres, Diana; Hamann, Ute; Justenhoven, Christina; Ribas, Gloria; Arias, José I.; Benitez, Javier; Bojesen, Stig E.; Nordestgaard, Børge G.; Flyger, Henrik L.; Peto, Julian; Fletcher, Olivia; Johnson, Nichola; Silva, Isabel Dos Santos; Fasching, Peter A.; Beckmann, Matthias W.; Strick, Reiner; Ekici, Arif B.; Broeks, Annegien; Schmidt, Marjanka K.; Van Leeuwen, Flora E.; Van't Veer, Laura J.; Southey, Melissa C.; Hopper, John L.; Apicella, Carmel; Haiman, Christopher A.; Henderson, Brian E.; Le Marchand, Loic; Kolonel, Laurence N.; Kristensen, Vessela; Alnæs, Grethe Grenaker; Hunter, David J.; Kraft, Peter; Cox, David G.; Hankinson, Susan E.; Seynaeve, Caroline; Vreeswijk, Maaike P G; Tollenaar, Rob A E M; Devilee, Peter; Chanock, Stephen; Lissowska, Jolanta; Brinton, Louise; Peplonska, Beata; Czene, Kamila; Hall, Per; Li, Yuqing; Liu, Jianjun; Balasubramanian, Sabapathy; Rafii, Saeed; Reed, Malcolm W R; Pooley, Karen A.; Conroy, Don; Baynes, Caroline; Kang, Daehee; Yoo, Keun Young; Noh, Dong Young; Ahn, Sei Hyun; Shen, Chen Yang; Wang, Hui Chun; Yu, Jyh Cherng; Wu, Pei Ei; Anton-Culver, Hoda; Ziogoas, Argyrios; Egan, Kathleen; Newcomb, Polly; Titus-Ernstoff, Linda; Dietz, Amy Trentham; Sigurdson, Alice J.; Alexander, Bruce H.; Bhatti, Parveen; Allen-Brady, Kristina; Cannon-Albright, Lisa A.; Wong, Jathine; Chenevix-Trench, Georgia; Spurdle, Amanda B.; Beesley, Jonathan; Pharoah, Paul D P; Easton, Doug F.; Garcia-Closas, Montserrat.

In: Cancer Epidemiology Biomarkers and Prevention, Vol. 18, No. 5, 05.2009, p. 1610-1616.

Research output: Contribution to journalArticle

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, VM, 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, Silva, IDS, Fasching, PA, Beckmann, MW, Strick, R, Ekici, AB, Broeks, A, Schmidt, MK, Van Leeuwen, FE, Van't Veer, LJ, Southey, MC, Hopper, JL, Apicella, C, Haiman, CA, Henderson, BE, Le Marchand, L, Kolonel, LN, Kristensen, V, Alnæs, GG, Hunter, DJ, Kraft, P, Cox, DG, Hankinson, SE, Seynaeve, C, Vreeswijk, MPG, Tollenaar, RAEM, Devilee, P, Chanock, S, Lissowska, J, Brinton, L, Peplonska, B, Czene, K, Hall, P, Li, Y, Liu, J, Balasubramanian, S, Rafii, S, Reed, MWR, Pooley, KA, Conroy, D, Baynes, C, Kang, D, Yoo, KY, Noh, DY, Ahn, SH, Shen, CY, Wang, HC, Yu, JC, Wu, PE, Anton-Culver, H, Ziogoas, A, Egan, K, Newcomb, P, Titus-Ernstoff, L, Dietz, AT, Sigurdson, AJ, Alexander, BH, Bhatti, P, Allen-Brady, K, Cannon-Albright, LA, Wong, J, Chenevix-Trench, G, Spurdle, AB, Beesley, J, Pharoah, PDP, Easton, DF & Garcia-Closas, M 2009, 'Five polymorphisms and breast cancer risk: Results from the breast cancer association consortium', Cancer Epidemiology Biomarkers and Prevention, vol. 18, no. 5, pp. 1610-1616. https://doi.org/10.1158/1055-9965.EPI-08-0745
Gaudet, Mia M. ; Milne, Roger L. ; Cox, Angela ; Camp, Nicola J. ; Goode, Ellen L. ; Humphreys, Manjeet K. ; Dunning, Alison M. ; Morrison, Jonathan ; Giles, Graham G. ; Severi, Gianluca ; Baglietto, Laura ; English, Dallas R. ; Couch, Fergus J. ; Olson, Janet E. ; Wang, Xianshu ; Chang-Claude, Jenny ; Flesch-Janys, Dieter ; Abbas, Sascha ; Salazar, Ramona ; Mannermaa, Arto ; Kataja, Vesa ; Kosma, Veli Matti ; Lindblom, Annika ; Margolin, Sara ; Heikkinen, Tuomas ; Kämpjärvi, Kati ; Aaltonen, Kirsimari ; Nevanlinna, Heli ; Bogdanova, Natalia ; Coinac, Irina ; Schürmann, Peter ; Dörk, Thilo ; Bartram, Claus R. ; Schmutzler, Rita K. ; Tchatchou, Sandrine ; Burwinkel, Barbara ; Brauch, Hiltrud ; Torres, Diana ; Hamann, Ute ; Justenhoven, Christina ; Ribas, Gloria ; Arias, José I. ; Benitez, Javier ; Bojesen, Stig E. ; Nordestgaard, Børge G. ; Flyger, Henrik L. ; Peto, Julian ; Fletcher, Olivia ; Johnson, Nichola ; Silva, Isabel Dos Santos ; Fasching, Peter A. ; Beckmann, Matthias W. ; Strick, Reiner ; Ekici, Arif B. ; Broeks, Annegien ; Schmidt, Marjanka K. ; Van Leeuwen, Flora E. ; Van't Veer, Laura J. ; Southey, Melissa C. ; Hopper, John L. ; Apicella, Carmel ; Haiman, Christopher A. ; Henderson, Brian E. ; Le Marchand, Loic ; Kolonel, Laurence N. ; Kristensen, Vessela ; Alnæs, Grethe Grenaker ; Hunter, David J. ; Kraft, Peter ; Cox, David G. ; Hankinson, Susan E. ; Seynaeve, Caroline ; Vreeswijk, Maaike P G ; Tollenaar, Rob A E M ; Devilee, Peter ; Chanock, Stephen ; Lissowska, Jolanta ; Brinton, Louise ; Peplonska, Beata ; Czene, Kamila ; Hall, Per ; Li, Yuqing ; Liu, Jianjun ; Balasubramanian, Sabapathy ; Rafii, Saeed ; Reed, Malcolm W R ; Pooley, Karen A. ; Conroy, Don ; Baynes, Caroline ; Kang, Daehee ; Yoo, Keun Young ; Noh, Dong Young ; Ahn, Sei Hyun ; Shen, Chen Yang ; Wang, Hui Chun ; Yu, Jyh Cherng ; Wu, Pei Ei ; Anton-Culver, Hoda ; Ziogoas, Argyrios ; Egan, Kathleen ; Newcomb, Polly ; Titus-Ernstoff, Linda ; Dietz, Amy Trentham ; Sigurdson, Alice J. ; Alexander, Bruce H. ; Bhatti, Parveen ; Allen-Brady, Kristina ; Cannon-Albright, Lisa A. ; Wong, Jathine ; Chenevix-Trench, Georgia ; Spurdle, Amanda B. ; Beesley, Jonathan ; Pharoah, Paul D P ; Easton, Doug F. ; Garcia-Closas, Montserrat. / Five polymorphisms and breast cancer risk : Results from the breast cancer association consortium. In: Cancer Epidemiology Biomarkers and Prevention. 2009 ; Vol. 18, No. 5. pp. 1610-1616.
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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 Kosma, {Veli Matti} 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 Silva, {Isabel Dos Santos} and Fasching, {Peter A.} and Beckmann, {Matthias W.} and Reiner Strick and Ekici, {Arif B.} and Annegien Broeks and Schmidt, {Marjanka K.} and {Van Leeuwen}, {Flora E.} and {Van't Veer}, {Laura J.} and Southey, {Melissa C.} and Hopper, {John L.} and Carmel Apicella and Haiman, {Christopher A.} and Henderson, {Brian E.} and {Le Marchand}, Loic and Kolonel, {Laurence N.} and Vessela Kristensen and Aln{\ae}s, {Grethe Grenaker} and Hunter, {David J.} and Peter Kraft and Cox, {David G.} and Hankinson, {Susan E.} and Caroline Seynaeve and Vreeswijk, {Maaike P G} and Tollenaar, {Rob A E M} and Peter Devilee and Stephen Chanock and Jolanta Lissowska and Louise Brinton and Beata Peplonska and Kamila Czene and Per Hall and Yuqing Li and Jianjun Liu and Sabapathy Balasubramanian and Saeed Rafii and Reed, {Malcolm W R} and Pooley, {Karen A.} and Don Conroy and Caroline Baynes and Daehee Kang and Yoo, {Keun Young} and Noh, {Dong Young} and Ahn, {Sei Hyun} and Shen, {Chen Yang} and Wang, {Hui Chun} and Yu, {Jyh Cherng} and Wu, {Pei Ei} and Hoda Anton-Culver and Argyrios Ziogoas and Kathleen Egan and Polly Newcomb and Linda Titus-Ernstoff and Dietz, {Amy Trentham} and Sigurdson, {Alice J.} and Alexander, {Bruce H.} and Parveen Bhatti and Kristina Allen-Brady and Cannon-Albright, {Lisa A.} and Jathine Wong and Georgia Chenevix-Trench and Spurdle, {Amanda B.} and Jonathan Beesley and Pharoah, {Paul D P} and Easton, {Doug F.} and Montserrat Garcia-Closas",
year = "2009",
month = "5",
doi = "10.1158/1055-9965.EPI-08-0745",
language = "English (US)",
volume = "18",
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journal = "Cancer Epidemiology Biomarkers and Prevention",
issn = "1055-9965",
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}

TY - JOUR

T1 - Five polymorphisms and breast cancer risk

T2 - 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 - Silva, Isabel Dos Santos

AU - Fasching, Peter A.

AU - Beckmann, Matthias W.

AU - Strick, Reiner

AU - Ekici, Arif B.

AU - Broeks, Annegien

AU - Schmidt, Marjanka K.

AU - Van Leeuwen, Flora E.

AU - Van't Veer, Laura J.

AU - Southey, Melissa C.

AU - Hopper, John L.

AU - Apicella, Carmel

AU - Haiman, Christopher A.

AU - Henderson, Brian E.

AU - Le Marchand, Loic

AU - Kolonel, Laurence N.

AU - Kristensen, Vessela

AU - Alnæs, Grethe Grenaker

AU - Hunter, David J.

AU - Kraft, Peter

AU - Cox, David G.

AU - Hankinson, Susan E.

AU - Seynaeve, Caroline

AU - Vreeswijk, Maaike P G

AU - Tollenaar, Rob A E M

AU - Devilee, Peter

AU - Chanock, Stephen

AU - Lissowska, Jolanta

AU - Brinton, Louise

AU - Peplonska, Beata

AU - Czene, Kamila

AU - Hall, Per

AU - Li, Yuqing

AU - Liu, Jianjun

AU - Balasubramanian, Sabapathy

AU - Rafii, Saeed

AU - Reed, Malcolm W R

AU - Pooley, Karen A.

AU - Conroy, Don

AU - Baynes, Caroline

AU - Kang, Daehee

AU - Yoo, Keun Young

AU - Noh, Dong Young

AU - Ahn, Sei Hyun

AU - Shen, Chen Yang

AU - Wang, Hui Chun

AU - Yu, Jyh Cherng

AU - Wu, Pei Ei

AU - Anton-Culver, Hoda

AU - Ziogoas, Argyrios

AU - Egan, Kathleen

AU - Newcomb, Polly

AU - Titus-Ernstoff, Linda

AU - Dietz, Amy Trentham

AU - Sigurdson, Alice J.

AU - Alexander, Bruce H.

AU - Bhatti, Parveen

AU - Allen-Brady, Kristina

AU - Cannon-Albright, Lisa A.

AU - Wong, Jathine

AU - Chenevix-Trench, Georgia

AU - Spurdle, Amanda B.

AU - Beesley, Jonathan

AU - Pharoah, Paul D P

AU - Easton, Doug F.

AU - Garcia-Closas, Montserrat

PY - 2009/5

Y1 - 2009/5

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.

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