Genome-wide association studies identify four ER negative-specific breast cancer risk loci

Gene ENvironmental Interaction and breast CAncer (GENICA) Network; KConFab Investigators; Familial Breast Canc Study FBCS; Australian Breast Canc Tissue Bank

doi:10.1038/ng.2561

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

Standard

Genome-wide association studies identify four ER negative-specific breast cancer risk loci. / Gene ENvironmental Interaction and breast CAncer (GENICA) Network; KConFab Investigators; Familial Breast Canc Study FBCS; Australian Breast Canc Tissue Bank.

in: NAT GENET, Jahrgang 45, Nr. 4, 01.04.2013, S. 392-8, 398e1-2.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Gene ENvironmental Interaction and breast CAncer (GENICA) Network, KConFab Investigators, Familial Breast Canc Study FBCS & Australian Breast Canc Tissue Bank 2013, 'Genome-wide association studies identify four ER negative-specific breast cancer risk loci', NAT GENET, Jg. 45, Nr. 4, S. 392-8, 398e1-2. https://doi.org/10.1038/ng.2561

APA

Gene ENvironmental Interaction and breast CAncer (GENICA) Network, KConFab Investigators, Familial Breast Canc Study FBCS, & Australian Breast Canc Tissue Bank (2013). Genome-wide association studies identify four ER negative-specific breast cancer risk loci. NAT GENET, 45(4), 392-8, 398e1-2. https://doi.org/10.1038/ng.2561

Vancouver

Gene ENvironmental Interaction and breast CAncer (GENICA) Network, KConFab Investigators, Familial Breast Canc Study FBCS, Australian Breast Canc Tissue Bank. Genome-wide association studies identify four ER negative-specific breast cancer risk loci. NAT GENET. 2013 Apr 1;45(4):392-8, 398e1-2. https://doi.org/10.1038/ng.2561

Bibtex

@article{f7dbd32b8b2940fa907fd7807d72ea7d,

title = "Genome-wide association studies identify four ER negative-specific breast cancer risk loci",

abstract = "Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a meta-analysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10(-12) and LGR6, P = 1.4 × 10(-8)), 2p24.1 (P = 4.6 × 10(-8)) and 16q12.2 (FTO, P = 4.0 × 10(-8)), were associated with ER-negative but not ER-positive breast cancer (P > 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.",

keywords = "Breast Neoplasms, Case-Control Studies, Cooperative Behavior, Female, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Meta-Analysis as Topic, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Receptors, Estrogen, Risk Factors",

author = "Montserrat Garcia-Closas and Couch, {Fergus J} and Sara Lindstrom and Kyriaki Michailidou and Schmidt, {Marjanka K} and Brook, {Mark N} and Nick Orr and Rhie, {Suhn Kyong} and Elio Riboli and Feigelson, {Heather S} and {Le Marchand}, Loic and Buring, {Julie E} and Diana Eccles and Penelope Miron and Fasching, {Peter A} and Hiltrud Brauch and Jenny Chang-Claude and Jane Carpenter and Godwin, {Andrew K} and Heli Nevanlinna and Giles, {Graham G} and Angela Cox and Hopper, {John L} and Bolla, {Manjeet K} and Qin Wang and Joe Dennis and Ed Dicks and Howat, {Will J} and Nils Schoof and Bojesen, {Stig E} and Diether Lambrechts and Annegien Broeks and Andrulis, {Irene L} and Pascal Gu{\'e}nel and Barbara Burwinkel and Sawyer, {Elinor J} and Antoinette Hollestelle and Olivia Fletcher and Robert Winqvist and Hermann Brenner and Arto Mannermaa and Ute Hamann and Alfons Meindl and Annika Lindblom and Wei Zheng and Peter Devillee and Goldberg, {Mark S} and Jan Lubinski and Vessela Kristensen and Anthony Swerdlow and Hoda Anton-Culver and Thilo D{\"o}rk and Kenneth Muir and Keitaro Matsuo and Wu, {Anna H} and Paolo Radice and Teo, {Soo Hwang} and Xiao-Ou Shu and William Blot and Daehee Kang and Mikael Hartman and Suleeporn Sangrajrang and Chen-Yang Shen and Southey, {Melissa C} and Park, {Daniel J} and Fleur Hammet and Jennifer Stone and Veer, {Laura J Van't} and Rutgers, {Emiel J} and Artitaya Lophatananon and Sarah Stewart-Brown and Pornthep Siriwanarangsan and Julian Peto and Schrauder, {Michael G} and Ekici, {Arif B} and Beckmann, {Matthias W} and {Dos Santos Silva}, Isabel and Nichola Johnson and Helen Warren and Ian Tomlinson and Kerin, {Michael J} and Nicola Miller and Federick Marme and Andreas Schneeweiss and Christof Sohn and Therese Truong and Pierre Laurent-Puig and Pierre Kerbrat and Nordestgaard, {B{\o}rge G} and Nielsen, {Sune F} and Henrik Flyger and Milne, {Roger L} and Perez, {Jose Ignacio Arias} and Primitiva Men{\'e}ndez and Heiko M{\"u}ller and Volker Arndt and Christa Stegmaier and Peter Lichtner and Magdalena Lochmann and Christina Justenhoven and Yon-Dschun Ko and Muranen, {Taru A} and Kristiina Aittom{\"a}ki and Carl Blomqvist and Dario Greco and Tuomas Heikkinen and Hidemi Ito and Hiroji Iwata and Yasushi Yatabe and Antonenkova, {Natalia N} and Sara Margolin and Vesa Kataja and Veli-Matti Kosma and Hartikainen, {Jaana M} and Rosemary Balleine and Chiu-Chen Tseng and Berg, {David Van Den} and Stram, {Daniel O} and Patrick Neven and Anne-Sophie Dieudonn{\'e} and Karin Leunen and Anja Rudolph and Stefan Nickels and Dieter Flesch-Janys and Paolo Peterlongo and Bernard Peissel and Loris Bernard and Olson, {Janet E} and Xianshu Wang and Kristen Stevens and Gianluca Severi and Laura Baglietto and Catriona McLean and Coetzee, {Gerhard A} and Ye Feng and Henderson, {Brian E} and Fredrick Schumacher and Bogdanova, {Natalia V} and France Labr{\`e}che and Martine Dumont and Yip, {Cheng Har} and Taib, {Nur Aishah Mohd} and Ching-Yu Cheng and Martha Shrubsole and Jirong Long and Katri Pylk{\"a}s and Arja Jukkola-Vuorinen and Saila Kauppila and Knight, {Julia A} and Gord Glendon and Mulligan, {Anna Marie} and Tollenaar, {Robertus A E M} and Seynaeve, {Caroline M} and Mieke Kriege and Hooning, {Maartje J} and {van den Ouweland}, {Ans M W} and {van Deurzen}, {Carolien H M} and Wei Lu and Yu-Tang Gao and Hui Cai and Balasubramanian, {Sabapathy P} and Cross, {Simon S} and Reed, {Malcolm W R} and Lisa Signorello and Qiuyin Cai and Mitul Shah and Hui Miao and Chan, {Ching Wan} and Chia, {Kee Seng} and Anna Jakubowska and Katarzyna Jaworska and Katarzyna Durda and Chia-Ni Hsiung and Pei-Ei Wu and Jyh-Cherng Yu and Alan Ashworth and Michael Jones and Tessier, {Daniel C} and Anna Gonz{\'a}lez-Neira and Guillermo Pita and Alonso, {M Rosario} and Daniel Vincent and Francois Bacot and Ambrosone, {Christine B} and Bandera, {Elisa V} and John, {Esther M} and Chen, {Gary K} and Hu, {Jennifer J} and Rodriguez-Gil, {Jorge L} and Leslie Bernstein and Press, {Michael F} and Ziegler, {Regina G} and Millikan, {Robert M} and Deming-Halverson, {Sandra L} and Sarah Nyante and Ingles, {Sue A} and Quinten Waisfisz and Helen Tsimiklis and Enes Makalic and Daniel Schmidt and Minh Bui and Lorna Gibson and Bertram M{\"u}ller-Myhsok and Schmutzler, {Rita K} and Rebecca Hein and Norbert Dahmen and Lars Beckmann and Kirsimari Aaltonen and Kamila Czene and Astrid Irwanto and Jianjun Liu and Clare Turnbull and Nazneen Rahman and Hanne Meijers-Heijboer and Uitterlinden, {Andre G} and Fernando Rivadeneira and Curtis Olswold and Susan Slager and Robert Pilarski and Foluso Ademuyiwa and Irene Konstantopoulou and Martin, {Nicholas G} and Montgomery, {Grant W} and Slamon, {Dennis J} and Claudia Rauh and Lux, {Michael P} and Jud, {Sebastian M} and Thomas Bruning and Joellen Weaver and Priyanka Sharma and Harsh Pathak and Will Tapper and Sue Gerty and Lorraine Durcan and Dimitrios Trichopoulos and Rosario Tumino and Peeters, {Petra H} and Rudolf Kaaks and Daniele Campa and Federico Canzian and Elisabete Weiderpass and Mattias Johansson and Kay-Tee Khaw and Ruth Travis and Fran{\c c}oise Clavel-Chapelon and Kolonel, {Laurence N} and Constance Chen and Andy Beck and Hankinson, {Susan E} and Berg, {Christine D} and Hoover, {Robert N} and Jolanta Lissowska and Figueroa, {Jonine D} and Chasman, {Daniel I} and Gaudet, {Mia M} and Diver, {W Ryan} and Willett, {Walter C} and Hunter, {David J} and Jacques Simard and Javier Benitez and Dunning, {Alison M} and Sherman, {Mark E} and Georgia Chenevix-Trench and Chanock, {Stephen J} and Per Hall and Pharoah, {Paul D P} and Celine Vachon and Easton, {Douglas F} and Haiman, {Christopher A} and Peter Kraft and {Gene ENvironmental Interaction and breast CAncer (GENICA) Network} and {KConFab Investigators} and {Familial Breast Canc Study FBCS} and {Australian Breast Canc Tissue Bank}",

year = "2013",

month = apr,

day = "1",

doi = "10.1038/ng.2561",

language = "English",

volume = "45",

pages = "392--8, 398e1--2",

journal = "NAT GENET",

issn = "1061-4036",

publisher = "NATURE PUBLISHING GROUP",

number = "4",

}

RIS

TY - JOUR

T1 - Genome-wide association studies identify four ER negative-specific breast cancer risk loci

AU - Garcia-Closas, Montserrat

AU - Couch, Fergus J

AU - Lindstrom, Sara

AU - Michailidou, Kyriaki

AU - Schmidt, Marjanka K

AU - Brook, Mark N

AU - Orr, Nick

AU - Rhie, Suhn Kyong

AU - Riboli, Elio

AU - Feigelson, Heather S

AU - Le Marchand, Loic

AU - Buring, Julie E

AU - Eccles, Diana

AU - Miron, Penelope

AU - Fasching, Peter A

AU - Brauch, Hiltrud

AU - Chang-Claude, Jenny

AU - Carpenter, Jane

AU - Godwin, Andrew K

AU - Nevanlinna, Heli

AU - Giles, Graham G

AU - Cox, Angela

AU - Hopper, John L

AU - Bolla, Manjeet K

AU - Wang, Qin

AU - Dennis, Joe

AU - Dicks, Ed

AU - Howat, Will J

AU - Schoof, Nils

AU - Bojesen, Stig E

AU - Lambrechts, Diether

AU - Broeks, Annegien

AU - Andrulis, Irene L

AU - Guénel, Pascal

AU - Burwinkel, Barbara

AU - Sawyer, Elinor J

AU - Hollestelle, Antoinette

AU - Fletcher, Olivia

AU - Winqvist, Robert

AU - Brenner, Hermann

AU - Mannermaa, Arto

AU - Hamann, Ute

AU - Meindl, Alfons

AU - Lindblom, Annika

AU - Zheng, Wei

AU - Devillee, Peter

AU - Goldberg, Mark S

AU - Lubinski, Jan

AU - Kristensen, Vessela

AU - Swerdlow, Anthony

AU - Anton-Culver, Hoda

AU - Dörk, Thilo

AU - Muir, Kenneth

AU - Matsuo, Keitaro

AU - Wu, Anna H

AU - Radice, Paolo

AU - Teo, Soo Hwang

AU - Shu, Xiao-Ou

AU - Blot, William

AU - Kang, Daehee

AU - Hartman, Mikael

AU - Sangrajrang, Suleeporn

AU - Shen, Chen-Yang

AU - Southey, Melissa C

AU - Park, Daniel J

AU - Hammet, Fleur

AU - Stone, Jennifer

AU - Veer, Laura J Van't

AU - Rutgers, Emiel J

AU - Lophatananon, Artitaya

AU - Stewart-Brown, Sarah

AU - Siriwanarangsan, Pornthep

AU - Peto, Julian

AU - Schrauder, Michael G

AU - Ekici, Arif B

AU - Beckmann, Matthias W

AU - Dos Santos Silva, Isabel

AU - Johnson, Nichola

AU - Warren, Helen

AU - Tomlinson, Ian

AU - Kerin, Michael J

AU - Miller, Nicola

AU - Marme, Federick

AU - Schneeweiss, Andreas

AU - Sohn, Christof

AU - Truong, Therese

AU - Laurent-Puig, Pierre

AU - Kerbrat, Pierre

AU - Nordestgaard, Børge G

AU - Nielsen, Sune F

AU - Flyger, Henrik

AU - Milne, Roger L

AU - Perez, Jose Ignacio Arias

AU - Menéndez, Primitiva

AU - Müller, Heiko

AU - Arndt, Volker

AU - Stegmaier, Christa

AU - Lichtner, Peter

AU - Lochmann, Magdalena

AU - Justenhoven, Christina

AU - Ko, Yon-Dschun

AU - Muranen, Taru A

AU - Aittomäki, Kristiina

AU - Blomqvist, Carl

AU - Greco, Dario

AU - Heikkinen, Tuomas

AU - Ito, Hidemi

AU - Iwata, Hiroji

AU - Yatabe, Yasushi

AU - Antonenkova, Natalia N

AU - Margolin, Sara

AU - Kataja, Vesa

AU - Kosma, Veli-Matti

AU - Hartikainen, Jaana M

AU - Balleine, Rosemary

AU - Tseng, Chiu-Chen

AU - Berg, David Van Den

AU - Stram, Daniel O

AU - Neven, Patrick

AU - Dieudonné, Anne-Sophie

AU - Leunen, Karin

AU - Rudolph, Anja

AU - Nickels, Stefan

AU - Flesch-Janys, Dieter

AU - Peterlongo, Paolo

AU - Peissel, Bernard

AU - Bernard, Loris

AU - Olson, Janet E

AU - Wang, Xianshu

AU - Stevens, Kristen

AU - Severi, Gianluca

AU - Baglietto, Laura

AU - McLean, Catriona

AU - Coetzee, Gerhard A

AU - Feng, Ye

AU - Henderson, Brian E

AU - Schumacher, Fredrick

AU - Bogdanova, Natalia V

AU - Labrèche, France

AU - Dumont, Martine

AU - Yip, Cheng Har

AU - Taib, Nur Aishah Mohd

AU - Cheng, Ching-Yu

AU - Shrubsole, Martha

AU - Long, Jirong

AU - Pylkäs, Katri

AU - Jukkola-Vuorinen, Arja

AU - Kauppila, Saila

AU - Knight, Julia A

AU - Glendon, Gord

AU - Mulligan, Anna Marie

AU - Tollenaar, Robertus A E M

AU - Seynaeve, Caroline M

AU - Kriege, Mieke

AU - Hooning, Maartje J

AU - van den Ouweland, Ans M W

AU - van Deurzen, Carolien H M

AU - Lu, Wei

AU - Gao, Yu-Tang

AU - Cai, Hui

AU - Balasubramanian, Sabapathy P

AU - Cross, Simon S

AU - Reed, Malcolm W R

AU - Signorello, Lisa

AU - Cai, Qiuyin

AU - Shah, Mitul

AU - Miao, Hui

AU - Chan, Ching Wan

AU - Chia, Kee Seng

AU - Jakubowska, Anna

AU - Jaworska, Katarzyna

AU - Durda, Katarzyna

AU - Hsiung, Chia-Ni

AU - Wu, Pei-Ei

AU - Yu, Jyh-Cherng

AU - Ashworth, Alan

AU - Jones, Michael

AU - Tessier, Daniel C

AU - González-Neira, Anna

AU - Pita, Guillermo

AU - Alonso, M Rosario

AU - Vincent, Daniel

AU - Bacot, Francois

AU - Ambrosone, Christine B

AU - Bandera, Elisa V

AU - John, Esther M

AU - Chen, Gary K

AU - Hu, Jennifer J

AU - Rodriguez-Gil, Jorge L

AU - Bernstein, Leslie

AU - Press, Michael F

AU - Ziegler, Regina G

AU - Millikan, Robert M

AU - Deming-Halverson, Sandra L

AU - Nyante, Sarah

AU - Ingles, Sue A

AU - Waisfisz, Quinten

AU - Tsimiklis, Helen

AU - Makalic, Enes

AU - Schmidt, Daniel

AU - Bui, Minh

AU - Gibson, Lorna

AU - Müller-Myhsok, Bertram

AU - Schmutzler, Rita K

AU - Hein, Rebecca

AU - Dahmen, Norbert

AU - Beckmann, Lars

AU - Aaltonen, Kirsimari

AU - Czene, Kamila

AU - Irwanto, Astrid

AU - Liu, Jianjun

AU - Turnbull, Clare

AU - Rahman, Nazneen

AU - Meijers-Heijboer, Hanne

AU - Uitterlinden, Andre G

AU - Rivadeneira, Fernando

AU - Olswold, Curtis

AU - Slager, Susan

AU - Pilarski, Robert

AU - Ademuyiwa, Foluso

AU - Konstantopoulou, Irene

AU - Martin, Nicholas G

AU - Montgomery, Grant W

AU - Slamon, Dennis J

AU - Rauh, Claudia

AU - Lux, Michael P

AU - Jud, Sebastian M

AU - Bruning, Thomas

AU - Weaver, Joellen

AU - Sharma, Priyanka

AU - Pathak, Harsh

AU - Tapper, Will

AU - Gerty, Sue

AU - Durcan, Lorraine

AU - Trichopoulos, Dimitrios

AU - Tumino, Rosario

AU - Peeters, Petra H

AU - Kaaks, Rudolf

AU - Campa, Daniele

AU - Canzian, Federico

AU - Weiderpass, Elisabete

AU - Johansson, Mattias

AU - Khaw, Kay-Tee

AU - Travis, Ruth

AU - Clavel-Chapelon, Françoise

AU - Kolonel, Laurence N

AU - Chen, Constance

AU - Beck, Andy

AU - Hankinson, Susan E

AU - Berg, Christine D

AU - Hoover, Robert N

AU - Lissowska, Jolanta

AU - Figueroa, Jonine D

AU - Chasman, Daniel I

AU - Gaudet, Mia M

AU - Diver, W Ryan

AU - Willett, Walter C

AU - Hunter, David J

AU - Simard, Jacques

AU - Benitez, Javier

AU - Dunning, Alison M

AU - Sherman, Mark E

AU - Chenevix-Trench, Georgia

AU - Chanock, Stephen J

AU - Hall, Per

AU - Pharoah, Paul D P

AU - Vachon, Celine

AU - Easton, Douglas F

AU - Haiman, Christopher A

AU - Kraft, Peter

AU - Gene ENvironmental Interaction and breast CAncer (GENICA) Network

AU - KConFab Investigators

AU - Familial Breast Canc Study FBCS

AU - Australian Breast Canc Tissue Bank

PY - 2013/4/1

Y1 - 2013/4/1

N2 - Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a meta-analysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10(-12) and LGR6, P = 1.4 × 10(-8)), 2p24.1 (P = 4.6 × 10(-8)) and 16q12.2 (FTO, P = 4.0 × 10(-8)), were associated with ER-negative but not ER-positive breast cancer (P > 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.

AB - Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a meta-analysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10(-12) and LGR6, P = 1.4 × 10(-8)), 2p24.1 (P = 4.6 × 10(-8)) and 16q12.2 (FTO, P = 4.0 × 10(-8)), were associated with ER-negative but not ER-positive breast cancer (P > 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.

KW - Breast Neoplasms

KW - Case-Control Studies

KW - Cooperative Behavior

KW - Female

KW - Genetic Loci

KW - Genetic Predisposition to Disease

KW - Genome-Wide Association Study

KW - Genotype

KW - Humans

KW - Meta-Analysis as Topic

KW - Oligonucleotide Array Sequence Analysis

KW - Polymorphism, Single Nucleotide

KW - Receptors, Estrogen

KW - Risk Factors

U2 - 10.1038/ng.2561

DO - 10.1038/ng.2561

M3 - SCORING: Journal article

C2 - 23535733

VL - 45

SP - 392-8, 398e1-2

JO - NAT GENET

JF - NAT GENET

SN - 1061-4036

IS - 4

ER -