Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

Tomas Kirchhoff; Mia M Gaudet; Antonis C Antoniou; Lesley McGuffog; Manjeet K Humphreys; Alison M Dunning; Stig E Bojesen; Børge G Nordestgaard; Henrik Flyger; Daehee Kang; Keun-Young Yoo; Dong-Young Noh; Sei-Hyun Ahn; Thilo Dork; Peter Schürmann; Johann H Karstens; Peter Hillemanns; Fergus J Couch; Janet Olson; Celine Vachon; Xianshu Wang; Angela Cox; Ian Brock; Graeme Elliott; Malcolm W R Reed; Barbara Burwinkel; Alfons Meindl; Hiltrud Brauch; Ute Hamann; Yon-Dschun Ko; Annegien Broeks; Marjanka K Schmidt; Laura J Van 't Veer; Linde M Braaf; Nichola Johnson; Olivia Fletcher; Lorna Gibson; Julian Peto; Clare Turnbull; Sheila Seal; Anthony Renwick; Nazneen Rahman; Pei-Ei Wu; Jyh-Cherng Yu; Chia-Ni Hsiung; Chen-Yang Shen; Melissa C Southey; John L Hopper; Fleur Hammet; Thijs Van Dorpe; GENICA Network

doi:10.1371/journal.pone.0035706

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

Tomas Kirchhoff, Mia M Gaudet, Antonis C Antoniou, Lesley McGuffog, Manjeet K Humphreys, Alison M Dunning, Stig E Bojesen, Børge G Nordestgaard, Henrik Flyger, Daehee Kang, Keun-Young Yoo, Dong-Young Noh, Sei-Hyun Ahn, Thilo Dork, Peter Schürmann, Johann H Karstens, Peter Hillemanns, Fergus J Couch, Janet Olson, Celine VachonXianshu Wang, Angela Cox, Ian Brock, Graeme Elliott, Malcolm W R Reed, Barbara Burwinkel, Alfons Meindl, Hiltrud Brauch, Ute Hamann, Yon-Dschun Ko, Annegien Broeks, Marjanka K Schmidt, Laura J Van 't Veer, Linde M Braaf, Nichola Johnson, Olivia Fletcher, Lorna Gibson, Julian Peto, Clare Turnbull, Sheila Seal, Anthony Renwick, Nazneen Rahman, Pei-Ei Wu, Jyh-Cherng Yu, Chia-Ni Hsiung, Chen-Yang Shen, Melissa C Southey, John L Hopper, Fleur Hammet, Thijs Van Dorpe, GENICA Network

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Abstract

Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I(2) = 49.3%; p =

Originalsprog	Engelsk
Tidsskrift	P L o S One
Vol/bind	7
Udgave nummer	6
Sider (fra-til)	e35706
ISSN	1932-6203
DOI	https://doi.org/10.1371/journal.pone.0035706
Status	Udgivet - 2012

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10.1371/journal.pone.0035706

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Kirchhoff, T., Gaudet, M. M., Antoniou, A. C., McGuffog, L., Humphreys, M. K., Dunning, A. M., Bojesen, S. E., Nordestgaard, B. G., Flyger, H., Kang, D., Yoo, K.-Y., Noh, D.-Y., Ahn, S.-H., Dork, T., Schürmann, P., Karstens, J. H., Hillemanns, P., Couch, F. J., Olson, J., ... GENICA Network (2012). Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2. P L o S One, 7(6), e35706. https://doi.org/10.1371/journal.pone.0035706

Kirchhoff, T, Gaudet, MM, Antoniou, AC, McGuffog, L, Humphreys, MK, Dunning, AM, Bojesen, SE , Nordestgaard, BG , Flyger, H, Kang, D, Yoo, K-Y, Noh, D-Y, Ahn, S-H, Dork, T, Schürmann, P, Karstens, JH, Hillemanns, P, Couch, FJ, Olson, J, Vachon, C, Wang, X, Cox, A, Brock, I, Elliott, G, Reed, MWR, Burwinkel, B, Meindl, A, Brauch, H, Hamann, U, Ko, Y-D, Broeks, A, Schmidt, MK, Van 't Veer, LJ, Braaf, LM, Johnson, N, Fletcher, O, Gibson, L, Peto, J, Turnbull, C, Seal, S, Renwick, A, Rahman, N, Wu, P-E, Yu, J-C, Hsiung, C-N, Shen, C-Y, Southey, MC, Hopper, JL, Hammet, F, Van Dorpe, T & GENICA Network 2012, 'Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2', P L o S One, bind 7, nr. 6, s. e35706. https://doi.org/10.1371/journal.pone.0035706

@article{6a243601c16a41299fea21478a9ed605,

title = "Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2",

abstract = "Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I(2) = 49.3%; p = ",

keywords = "Alleles, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Chromosomes, Human, Pair 6, Confidence Intervals, Female, Genetic Association Studies, Genetic Predisposition to Disease, Heterozygote, Humans, Middle Aged, Odds Ratio, Polymorphism, Single Nucleotide, Proportional Hazards Models, Receptors, Estrogen, Risk Factors",

author = "Tomas Kirchhoff and Gaudet, {Mia M} and Antoniou, {Antonis C} and Lesley McGuffog and Humphreys, {Manjeet K} and Dunning, {Alison M} and Bojesen, {Stig E} and Nordestgaard, {B{\o}rge G} and Henrik Flyger and Daehee Kang and Keun-Young Yoo and Dong-Young Noh and Sei-Hyun Ahn and Thilo Dork and Peter Sch{\"u}rmann and Karstens, {Johann H} and Peter Hillemanns and Couch, {Fergus J} and Janet Olson and Celine Vachon and Xianshu Wang and Angela Cox and Ian Brock and Graeme Elliott and Reed, {Malcolm W R} and Barbara Burwinkel and Alfons Meindl and Hiltrud Brauch and Ute Hamann and Yon-Dschun Ko and Annegien Broeks and Schmidt, {Marjanka K} and {Van 't Veer}, {Laura J} and Braaf, {Linde M} and Nichola Johnson and Olivia Fletcher and Lorna Gibson and Julian Peto and Clare Turnbull and Sheila Seal and Anthony Renwick and Nazneen Rahman and Pei-Ei Wu and Jyh-Cherng Yu and Chia-Ni Hsiung and Chen-Yang Shen and Southey, {Melissa C} and Hopper, {John L} and Fleur Hammet and {Van Dorpe}, Thijs and {GENICA Network}",

year = "2012",

doi = "10.1371/journal.pone.0035706",

language = "English",

volume = "7",

pages = "e35706",

journal = "P L o S One",

issn = "1932-6203",

publisher = "Public Library of Science",

number = "6",

}

TY - JOUR

T1 - Breast cancer risk and 6q22.33

T2 - combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

AU - Kirchhoff, Tomas

AU - Gaudet, Mia M

AU - Antoniou, Antonis C

AU - McGuffog, Lesley

AU - Humphreys, Manjeet K

AU - Dunning, Alison M

AU - Bojesen, Stig E

AU - Nordestgaard, Børge G

AU - Flyger, Henrik

AU - Kang, Daehee

AU - Yoo, Keun-Young

AU - Noh, Dong-Young

AU - Ahn, Sei-Hyun

AU - Dork, Thilo

AU - Schürmann, Peter

AU - Karstens, Johann H

AU - Hillemanns, Peter

AU - Couch, Fergus J

AU - Olson, Janet

AU - Vachon, Celine

AU - Wang, Xianshu

AU - Cox, Angela

AU - Brock, Ian

AU - Elliott, Graeme

AU - Reed, Malcolm W R

AU - Burwinkel, Barbara

AU - Meindl, Alfons

AU - Brauch, Hiltrud

AU - Hamann, Ute

AU - Ko, Yon-Dschun

AU - Broeks, Annegien

AU - Schmidt, Marjanka K

AU - Van 't Veer, Laura J

AU - Braaf, Linde M

AU - Johnson, Nichola

AU - Fletcher, Olivia

AU - Gibson, Lorna

AU - Peto, Julian

AU - Turnbull, Clare

AU - Seal, Sheila

AU - Renwick, Anthony

AU - Rahman, Nazneen

AU - Wu, Pei-Ei

AU - Yu, Jyh-Cherng

AU - Hsiung, Chia-Ni

AU - Shen, Chen-Yang

AU - Southey, Melissa C

AU - Hopper, John L

AU - Hammet, Fleur

AU - Van Dorpe, Thijs

AU - GENICA Network

PY - 2012

Y1 - 2012

N2 - Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I(2) = 49.3%; p =

AB - Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I(2) = 49.3%; p =

KW - Alleles

KW - BRCA1 Protein

KW - BRCA2 Protein

KW - Breast Neoplasms

KW - Chromosomes, Human, Pair 6

KW - Confidence Intervals

KW - Female

KW - Genetic Association Studies

KW - Genetic Predisposition to Disease

KW - Heterozygote

KW - Humans

KW - Middle Aged

KW - Odds Ratio

KW - Polymorphism, Single Nucleotide

KW - Proportional Hazards Models

KW - Receptors, Estrogen

KW - Risk Factors

U2 - 10.1371/journal.pone.0035706

DO - 10.1371/journal.pone.0035706

M3 - Journal article

C2 - 22768030

SN - 1932-6203

VL - 7

SP - e35706

JO - P L o S One

JF - P L o S One

IS - 6

ER -

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

Abstract

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