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A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

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A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. / Siddiq, Afshan; Couch, Fergus J; Chen, Gary K; Lindström, Sara; Eccles, Diana; Millikan, Robert C; Michailidou, Kyriaki; Stram, Daniel O; Beckmann, Lars; Rhie, Suhn Kyong; Ambrosone, Christine B; Aittomäki, Kristiina; Amiano, Pilar; Apicella, Carmel; Investigators, Australian Breast Cancer Tissue Bank; Baglietto, Laura; Bandera, Elisa V; Beckmann, Matthias W; Berg, Christine D; Bernstein, Leslie; Blomqvist, Carl; Brauch, Hiltrud; Brinton, Louise; Bui, Quang M; Buring, Julie E; Buys, Saundra S; Campa, Daniele; Carpenter, Jane E; Chasman, Daniel I; Chang-Claude, Jenny; Chen, Constance; Clavel-Chapelon, Françoise; Cox, Angela; Cross, Simon S; Czene, Kamila; Deming, Sandra L; Diasio, Robert B; Diver, W Ryan; Dunning, Alison M; Durcan, Lorraine; Ekici, Arif B; Fasching, Peter A; Study, Familial Breast Cancer; Feigelson, Heather Spencer; Fejerman, Laura; Figueroa, Jonine D; Fletcher, Olivia; Flesch-Janys, Dieter; Gaudet, Mia M; Consortium, GENICA; Gerty, Susan M; Rodriguez-Gil, Jorge L; Giles, Graham G; Gils, van; Carla, H; Godwin, Andrew K; Graham, Nikki; Greco, Dario; Hall, Per; Hankinson, Susan E; Hartmann, Arndt; Hein, Rebecca; Heinz, Judith; Hoover, Robert N; Hopper, John L; Hu, Jennifer J; Huntsman, Scott; Ingles, Sue A; Irwanto, Astrid; Isaacs, Claudine; Jacobs, Kevin B; John, Esther M; Justenhoven, Christina; Kaaks, Rudolf; Kolonel, Laurence N; Coetzee, Gerhard A; Lathrop, Mark; Loic, Le Marchand; Lee, Adam M; Lee, I-Min; Lesnick, Timothy; Lichtner, Peter; Liu, Jianjun; Lund, Eiliv; Makalic, Enes; Martin, Nicholas G; McLean, Catriona A; Meijers-Heijboer, Hanne; Meindl, Alfons; Miron, Penelope; Monroe, Kristine R; Montgomery, Grant W; Müller-Myhsok, Bertram; Nickels, Stefan; Nyante, Sarah J; Olswold, Curtis; Overvad, Kim; Palli, Domenico; Park, Daniel J; Palmer, Julie R; Pathak, Harsh; Peto, Julian; Pharoah, Paul; Rahman, Nazneen; Rivadeneira, Fernando; Schmidt, Daniel F; Schmutzler, Rita K; Slager, Susan; Southey, Melissa C; Stevens, Kristen N; Sinn, Hans-Peter; Press, Michael F; Ross, Eric; Riboli, Elio; Ridker, Paul M; Schumacher, Fredrick R; Severi, Gianluca; Isabel, Dos Santos Silva; Stone, Jennifer; Sund, Malin; Tapper, William J; Thun, Michael J; Travis, Ruth C; Turnbull, Clare; Uitterlinden, Andre G; Waisfisz, Quinten; Wang, Xianshu; Wang, Zhaoming; Weaver, Joellen; Schulz-Wendtland, Rüdiger; Wilkens, Lynne R; David, Van Den Berg; Zheng, Wei; Ziegler, Regina G; Ziv, Elad; Nevanlinna, Heli; Easton, Douglas F; Hunter, David J; Henderson, Brian E; Chanock, Stephen J; Garcia-Closas, Montserrat; Kraft, Peter; Haiman, Christopher A; Vachon, Celine M.

In: HUM MOL GENET, Vol. 21, No. 24, 24, 2012, p. 5373-5384.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Siddiq, A, Couch, FJ, Chen, GK, Lindström, S, Eccles, D, Millikan, RC, Michailidou, K, Stram, DO, Beckmann, L, Rhie, SK, Ambrosone, CB, Aittomäki, K, Amiano, P, Apicella, C, Investigators, ABCTB, Baglietto, L, Bandera, EV, Beckmann, MW, Berg, CD, Bernstein, L, Blomqvist, C, Brauch, H, Brinton, L, Bui, QM, Buring, JE, Buys, SS, Campa, D, Carpenter, JE, Chasman, DI, Chang-Claude, J, Chen, C, Clavel-Chapelon, F, Cox, A, Cross, SS, Czene, K, Deming, SL, Diasio, RB, Diver, WR, Dunning, AM, Durcan, L, Ekici, AB, Fasching, PA, Study, FBC, Feigelson, HS, Fejerman, L, Figueroa, JD, Fletcher, O, Flesch-Janys, D, Gaudet, MM, Consortium, GENICA, Gerty, SM, Rodriguez-Gil, JL, Giles, GG, Gils, V, Carla, H, Godwin, AK, Graham, N, Greco, D, Hall, P, Hankinson, SE, Hartmann, A, Hein, R, Heinz, J, Hoover, RN, Hopper, JL, Hu, JJ, Huntsman, S, Ingles, SA, Irwanto, A, Isaacs, C, Jacobs, KB, John, EM, Justenhoven, C, Kaaks, R, Kolonel, LN, Coetzee, GA, Lathrop, M, Loic, LM, Lee, AM, Lee, I-M, Lesnick, T, Lichtner, P, Liu, J, Lund, E, Makalic, E, Martin, NG, McLean, CA, Meijers-Heijboer, H, Meindl, A, Miron, P, Monroe, KR, Montgomery, GW, Müller-Myhsok, B, Nickels, S, Nyante, SJ, Olswold, C, Overvad, K, Palli, D, Park, DJ, Palmer, JR, Pathak, H, Peto, J, Pharoah, P, Rahman, N, Rivadeneira, F, Schmidt, DF, Schmutzler, RK, Slager, S, Southey, MC, Stevens, KN, Sinn, H-P, Press, MF, Ross, E, Riboli, E, Ridker, PM, Schumacher, FR, Severi, G, Isabel, DSS, Stone, J, Sund, M, Tapper, WJ, Thun, MJ, Travis, RC, Turnbull, C, Uitterlinden, AG, Waisfisz, Q, Wang, X, Wang, Z, Weaver, J, Schulz-Wendtland, R, Wilkens, LR, David, VDB, Zheng, W, Ziegler, RG, Ziv, E, Nevanlinna, H, Easton, DF, Hunter, DJ, Henderson, BE, Chanock, SJ, Garcia-Closas, M, Kraft, P, Haiman, CA & Vachon, CM 2012, 'A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.', HUM MOL GENET, vol. 21, no. 24, 24, pp. 5373-5384. <http://www.ncbi.nlm.nih.gov/pubmed/22976474?dopt=Citation>

APA

Siddiq, A., Couch, F. J., Chen, G. K., Lindström, S., Eccles, D., Millikan, R. C., Michailidou, K., Stram, D. O., Beckmann, L., Rhie, S. K., Ambrosone, C. B., Aittomäki, K., Amiano, P., Apicella, C., Investigators, A. B. C. T. B., Baglietto, L., Bandera, E. V., Beckmann, M. W., Berg, C. D., ... Vachon, C. M. (2012). A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. HUM MOL GENET, 21(24), 5373-5384. [24]. http://www.ncbi.nlm.nih.gov/pubmed/22976474?dopt=Citation

Vancouver

Siddiq A, Couch FJ, Chen GK, Lindström S, Eccles D, Millikan RC et al. A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. HUM MOL GENET. 2012;21(24):5373-5384. 24.

Bibtex

@article{6d2c9d61410a41018a4793a4e3a4932d,
title = "A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.",
abstract = "Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor status have revealed loci contributing to susceptibility of estrogen receptor (ER)-negative subtypes. To identify additional genetic variants for ER-negative breast cancer, we conducted the largest meta-analysis of ER-negative disease to date, comprising 4754 ER-negative cases and 31 663 controls from three GWAS: NCI Breast and Prostate Cancer Cohort Consortium (BPC3) (2188 ER-negative cases; 25 519 controls of European ancestry), Triple Negative Breast Cancer Consortium (TNBCC) (1562 triple negative cases; 3399 controls of European ancestry) and African American Breast Cancer Consortium (AABC) (1004 ER-negative cases; 2745 controls). We performed in silico replication of 86 SNPs at P ? 1 × 10(-5) in an additional 11 209 breast cancer cases (946 with ER-negative disease) and 16 057 controls of Japanese, Latino and European ancestry. We identified two novel loci for breast cancer at 20q11 and 6q14. SNP rs2284378 at 20q11 was associated with ER-negative breast cancer (combined two-stage OR = 1.16; P = 1.1 × 10(-8)) but showed a weaker association with overall breast cancer (OR = 1.08, P = 1.3 × 10(-6)) based on 17 869 cases and 43 745 controls and no association with ER-positive disease (OR = 1.01, P = 0.67) based on 9965 cases and 22 902 controls. Similarly, rs17530068 at 6q14 was associated with breast cancer (OR = 1.12; P = 1.1 × 10(-9)), and with both ER-positive (OR = 1.09; P = 1.5 × 10(-5)) and ER-negative (OR = 1.16, P = 2.5 × 10(-7)) disease. We also confirmed three known loci associated with ER-negative (19p13) and both ER-negative and ER-positive breast cancer (6q25 and 12p11). Our results highlight the value of large-scale collaborative studies to identify novel breast cancer risk loci.",
keywords = "Humans, Female, Breast Neoplasms/*genetics, Polymorphism, Single Nucleotide/genetics, Genetic Predisposition to Disease/*genetics, Receptors, Estrogen/genetics, *Genome-Wide Association Study, Humans, Female, Breast Neoplasms/*genetics, Polymorphism, Single Nucleotide/genetics, Genetic Predisposition to Disease/*genetics, Receptors, Estrogen/genetics, *Genome-Wide Association Study",
author = "Afshan Siddiq and Couch, {Fergus J} and Chen, {Gary K} and Sara Lindstr{\"o}m and Diana Eccles and Millikan, {Robert C} and Kyriaki Michailidou and Stram, {Daniel O} and Lars Beckmann and Rhie, {Suhn Kyong} and Ambrosone, {Christine B} and Kristiina Aittom{\"a}ki and Pilar Amiano and Carmel Apicella and Investigators, {Australian Breast Cancer Tissue Bank} and Laura Baglietto and Bandera, {Elisa V} and Beckmann, {Matthias W} and Berg, {Christine D} and Leslie Bernstein and Carl Blomqvist and Hiltrud Brauch and Louise Brinton and Bui, {Quang M} and Buring, {Julie E} and Buys, {Saundra S} and Daniele Campa and Carpenter, {Jane E} and Chasman, {Daniel I} and Jenny Chang-Claude and Constance Chen and Fran{\c c}oise Clavel-Chapelon and Angela Cox and Cross, {Simon S} and Kamila Czene and Deming, {Sandra L} and Diasio, {Robert B} and Diver, {W Ryan} and Dunning, {Alison M} and Lorraine Durcan and Ekici, {Arif B} and Fasching, {Peter A} and Study, {Familial Breast Cancer} and Feigelson, {Heather Spencer} and Laura Fejerman and Figueroa, {Jonine D} and Olivia Fletcher and Dieter Flesch-Janys and Gaudet, {Mia M} and GENICA Consortium and Gerty, {Susan M} and Rodriguez-Gil, {Jorge L} and Giles, {Graham G} and van Gils and H Carla and Godwin, {Andrew K} and Nikki Graham and Dario Greco and Per Hall and Hankinson, {Susan E} and Arndt Hartmann and Rebecca Hein and Judith Heinz and Hoover, {Robert N} and Hopper, {John L} and Hu, {Jennifer J} and Scott Huntsman and Ingles, {Sue A} and Astrid Irwanto and Claudine Isaacs and Jacobs, {Kevin B} and John, {Esther M} and Christina Justenhoven and Rudolf Kaaks and Kolonel, {Laurence N} and Coetzee, {Gerhard A} and Mark Lathrop and Loic, {Le Marchand} and Lee, {Adam M} and I-Min Lee and Timothy Lesnick and Peter Lichtner and Jianjun Liu and Eiliv Lund and Enes Makalic and Martin, {Nicholas G} and McLean, {Catriona A} and Hanne Meijers-Heijboer and Alfons Meindl and Penelope Miron and Monroe, {Kristine R} and Montgomery, {Grant W} and Bertram M{\"u}ller-Myhsok and Stefan Nickels and Nyante, {Sarah J} and Curtis Olswold and Kim Overvad and Domenico Palli and Park, {Daniel J} and Palmer, {Julie R} and Harsh Pathak and Julian Peto and Paul Pharoah and Nazneen Rahman and Fernando Rivadeneira and Schmidt, {Daniel F} and Schmutzler, {Rita K} and Susan Slager and Southey, {Melissa C} and Stevens, {Kristen N} and Hans-Peter Sinn and Press, {Michael F} and Eric Ross and Elio Riboli and Ridker, {Paul M} and Schumacher, {Fredrick R} and Gianluca Severi and Isabel, {Dos Santos Silva} and Jennifer Stone and Malin Sund and Tapper, {William J} and Thun, {Michael J} and Travis, {Ruth C} and Clare Turnbull and Uitterlinden, {Andre G} and Quinten Waisfisz and Xianshu Wang and Zhaoming Wang and Joellen Weaver and R{\"u}diger Schulz-Wendtland and Wilkens, {Lynne R} and David, {Van Den Berg} and Wei Zheng and Ziegler, {Regina G} and Elad Ziv and Heli Nevanlinna and Easton, {Douglas F} and Hunter, {David J} and Henderson, {Brian E} and Chanock, {Stephen J} and Montserrat Garcia-Closas and Peter Kraft and Haiman, {Christopher A} and Vachon, {Celine M}",
year = "2012",
language = "English",
volume = "21",
pages = "5373--5384",
journal = "HUM MOL GENET",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "24",

}

RIS

TY - JOUR

T1 - A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

AU - Siddiq, Afshan

AU - Couch, Fergus J

AU - Chen, Gary K

AU - Lindström, Sara

AU - Eccles, Diana

AU - Millikan, Robert C

AU - Michailidou, Kyriaki

AU - Stram, Daniel O

AU - Beckmann, Lars

AU - Rhie, Suhn Kyong

AU - Ambrosone, Christine B

AU - Aittomäki, Kristiina

AU - Amiano, Pilar

AU - Apicella, Carmel

AU - Investigators, Australian Breast Cancer Tissue Bank

AU - Baglietto, Laura

AU - Bandera, Elisa V

AU - Beckmann, Matthias W

AU - Berg, Christine D

AU - Bernstein, Leslie

AU - Blomqvist, Carl

AU - Brauch, Hiltrud

AU - Brinton, Louise

AU - Bui, Quang M

AU - Buring, Julie E

AU - Buys, Saundra S

AU - Campa, Daniele

AU - Carpenter, Jane E

AU - Chasman, Daniel I

AU - Chang-Claude, Jenny

AU - Chen, Constance

AU - Clavel-Chapelon, Françoise

AU - Cox, Angela

AU - Cross, Simon S

AU - Czene, Kamila

AU - Deming, Sandra L

AU - Diasio, Robert B

AU - Diver, W Ryan

AU - Dunning, Alison M

AU - Durcan, Lorraine

AU - Ekici, Arif B

AU - Fasching, Peter A

AU - Study, Familial Breast Cancer

AU - Feigelson, Heather Spencer

AU - Fejerman, Laura

AU - Figueroa, Jonine D

AU - Fletcher, Olivia

AU - Flesch-Janys, Dieter

AU - Gaudet, Mia M

AU - Consortium, GENICA

AU - Gerty, Susan M

AU - Rodriguez-Gil, Jorge L

AU - Giles, Graham G

AU - Gils, van

AU - Carla, H

AU - Godwin, Andrew K

AU - Graham, Nikki

AU - Greco, Dario

AU - Hall, Per

AU - Hankinson, Susan E

AU - Hartmann, Arndt

AU - Hein, Rebecca

AU - Heinz, Judith

AU - Hoover, Robert N

AU - Hopper, John L

AU - Hu, Jennifer J

AU - Huntsman, Scott

AU - Ingles, Sue A

AU - Irwanto, Astrid

AU - Isaacs, Claudine

AU - Jacobs, Kevin B

AU - John, Esther M

AU - Justenhoven, Christina

AU - Kaaks, Rudolf

AU - Kolonel, Laurence N

AU - Coetzee, Gerhard A

AU - Lathrop, Mark

AU - Loic, Le Marchand

AU - Lee, Adam M

AU - Lee, I-Min

AU - Lesnick, Timothy

AU - Lichtner, Peter

AU - Liu, Jianjun

AU - Lund, Eiliv

AU - Makalic, Enes

AU - Martin, Nicholas G

AU - McLean, Catriona A

AU - Meijers-Heijboer, Hanne

AU - Meindl, Alfons

AU - Miron, Penelope

AU - Monroe, Kristine R

AU - Montgomery, Grant W

AU - Müller-Myhsok, Bertram

AU - Nickels, Stefan

AU - Nyante, Sarah J

AU - Olswold, Curtis

AU - Overvad, Kim

AU - Palli, Domenico

AU - Park, Daniel J

AU - Palmer, Julie R

AU - Pathak, Harsh

AU - Peto, Julian

AU - Pharoah, Paul

AU - Rahman, Nazneen

AU - Rivadeneira, Fernando

AU - Schmidt, Daniel F

AU - Schmutzler, Rita K

AU - Slager, Susan

AU - Southey, Melissa C

AU - Stevens, Kristen N

AU - Sinn, Hans-Peter

AU - Press, Michael F

AU - Ross, Eric

AU - Riboli, Elio

AU - Ridker, Paul M

AU - Schumacher, Fredrick R

AU - Severi, Gianluca

AU - Isabel, Dos Santos Silva

AU - Stone, Jennifer

AU - Sund, Malin

AU - Tapper, William J

AU - Thun, Michael J

AU - Travis, Ruth C

AU - Turnbull, Clare

AU - Uitterlinden, Andre G

AU - Waisfisz, Quinten

AU - Wang, Xianshu

AU - Wang, Zhaoming

AU - Weaver, Joellen

AU - Schulz-Wendtland, Rüdiger

AU - Wilkens, Lynne R

AU - David, Van Den Berg

AU - Zheng, Wei

AU - Ziegler, Regina G

AU - Ziv, Elad

AU - Nevanlinna, Heli

AU - Easton, Douglas F

AU - Hunter, David J

AU - Henderson, Brian E

AU - Chanock, Stephen J

AU - Garcia-Closas, Montserrat

AU - Kraft, Peter

AU - Haiman, Christopher A

AU - Vachon, Celine M

PY - 2012

Y1 - 2012

N2 - Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor status have revealed loci contributing to susceptibility of estrogen receptor (ER)-negative subtypes. To identify additional genetic variants for ER-negative breast cancer, we conducted the largest meta-analysis of ER-negative disease to date, comprising 4754 ER-negative cases and 31 663 controls from three GWAS: NCI Breast and Prostate Cancer Cohort Consortium (BPC3) (2188 ER-negative cases; 25 519 controls of European ancestry), Triple Negative Breast Cancer Consortium (TNBCC) (1562 triple negative cases; 3399 controls of European ancestry) and African American Breast Cancer Consortium (AABC) (1004 ER-negative cases; 2745 controls). We performed in silico replication of 86 SNPs at P ? 1 × 10(-5) in an additional 11 209 breast cancer cases (946 with ER-negative disease) and 16 057 controls of Japanese, Latino and European ancestry. We identified two novel loci for breast cancer at 20q11 and 6q14. SNP rs2284378 at 20q11 was associated with ER-negative breast cancer (combined two-stage OR = 1.16; P = 1.1 × 10(-8)) but showed a weaker association with overall breast cancer (OR = 1.08, P = 1.3 × 10(-6)) based on 17 869 cases and 43 745 controls and no association with ER-positive disease (OR = 1.01, P = 0.67) based on 9965 cases and 22 902 controls. Similarly, rs17530068 at 6q14 was associated with breast cancer (OR = 1.12; P = 1.1 × 10(-9)), and with both ER-positive (OR = 1.09; P = 1.5 × 10(-5)) and ER-negative (OR = 1.16, P = 2.5 × 10(-7)) disease. We also confirmed three known loci associated with ER-negative (19p13) and both ER-negative and ER-positive breast cancer (6q25 and 12p11). Our results highlight the value of large-scale collaborative studies to identify novel breast cancer risk loci.

AB - Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor status have revealed loci contributing to susceptibility of estrogen receptor (ER)-negative subtypes. To identify additional genetic variants for ER-negative breast cancer, we conducted the largest meta-analysis of ER-negative disease to date, comprising 4754 ER-negative cases and 31 663 controls from three GWAS: NCI Breast and Prostate Cancer Cohort Consortium (BPC3) (2188 ER-negative cases; 25 519 controls of European ancestry), Triple Negative Breast Cancer Consortium (TNBCC) (1562 triple negative cases; 3399 controls of European ancestry) and African American Breast Cancer Consortium (AABC) (1004 ER-negative cases; 2745 controls). We performed in silico replication of 86 SNPs at P ? 1 × 10(-5) in an additional 11 209 breast cancer cases (946 with ER-negative disease) and 16 057 controls of Japanese, Latino and European ancestry. We identified two novel loci for breast cancer at 20q11 and 6q14. SNP rs2284378 at 20q11 was associated with ER-negative breast cancer (combined two-stage OR = 1.16; P = 1.1 × 10(-8)) but showed a weaker association with overall breast cancer (OR = 1.08, P = 1.3 × 10(-6)) based on 17 869 cases and 43 745 controls and no association with ER-positive disease (OR = 1.01, P = 0.67) based on 9965 cases and 22 902 controls. Similarly, rs17530068 at 6q14 was associated with breast cancer (OR = 1.12; P = 1.1 × 10(-9)), and with both ER-positive (OR = 1.09; P = 1.5 × 10(-5)) and ER-negative (OR = 1.16, P = 2.5 × 10(-7)) disease. We also confirmed three known loci associated with ER-negative (19p13) and both ER-negative and ER-positive breast cancer (6q25 and 12p11). Our results highlight the value of large-scale collaborative studies to identify novel breast cancer risk loci.

KW - Humans

KW - Female

KW - Breast Neoplasms/genetics

KW - Polymorphism, Single Nucleotide/genetics

KW - Genetic Predisposition to Disease/genetics

KW - Receptors, Estrogen/genetics

KW - Genome-Wide Association Study

KW - Humans

KW - Female

KW - Breast Neoplasms/genetics

KW - Polymorphism, Single Nucleotide/genetics

KW - Genetic Predisposition to Disease/genetics

KW - Receptors, Estrogen/genetics

KW - Genome-Wide Association Study

M3 - SCORING: Journal article

VL - 21

SP - 5373

EP - 5384

JO - HUM MOL GENET

JF - HUM MOL GENET

SN - 0964-6906

IS - 24

M1 - 24

ER -