Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
23535733
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.
DATE PUBLISHED
2013 Apr
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2012/05/14
accepted 2013/01/29
entrez 2013/03/29 06:00
pubmed 2013/03/29 06:00
medline 2013/05/23 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Garcia-Closas M Garcia-Closas Montserrat M 1] Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK. [2] Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK. [3].
Couch FJ Couch Fergus J FJ
Lindstrom S Lindstrom Sara S
Michailidou K Michailidou Kyriaki K
Schmidt MK Schmidt Marjanka K MK
Brook MN Brook Mark N MN
Orr N Orr Nick N
Rhie SK Rhie Suhn Kyong SK
Riboli E Riboli Elio E
Feigelson HS Feigelson Heather S HS
Le Marchand L Le Marchand Loic L
Buring JE Buring Julie E JE
Eccles D Eccles Diana D
Miron P Miron Penelope P
Fasching PA Fasching Peter A PA
Brauch H Brauch Hiltrud H
Chang-Claude J Chang-Claude Jenny J
Carpenter J Carpenter Jane J
Godwin AK Godwin Andrew K AK
Nevanlinna H Nevanlinna Heli H
Giles GG Giles Graham G GG
Cox A Cox Angela A
Hopper JL Hopper John L JL
Bolla MK Bolla Manjeet K MK
Wang Q Wang Qin Q
Dennis J Dennis Joe J
Dicks E Dicks Ed E
Howat WJ Howat Will J WJ
Schoof N Schoof Nils N
Bojesen SE Bojesen Stig E SE
Lambrechts D Lambrechts Diether D
Broeks A Broeks Annegien A
Andrulis IL Andrulis Irene L IL
Guénel P Guénel Pascal P
Burwinkel B Burwinkel Barbara B
Sawyer EJ Sawyer Elinor J EJ
Hollestelle A Hollestelle Antoinette A
Fletcher O Fletcher Olivia O
Winqvist R Winqvist Robert R
Brenner H Brenner Hermann H
Mannermaa A Mannermaa Arto A
Hamann U Hamann Ute U
Meindl A Meindl Alfons A
Lindblom A Lindblom Annika A
Zheng W Zheng Wei W
Devillee P Devillee Peter P
Goldberg MS Goldberg Mark S MS
Lubinski J Lubinski Jan J
Kristensen V Kristensen Vessela V
Swerdlow A Swerdlow Anthony A
Anton-Culver H Anton-Culver Hoda H
Dörk T Dörk Thilo T
Muir K Muir Kenneth K
Matsuo K Matsuo Keitaro K
Wu AH Wu Anna H AH
Radice P Radice Paolo P
Teo SH Teo Soo Hwang SH
Shu XO Shu Xiao-Ou XO
Blot W Blot William W
Kang D Kang Daehee D
Hartman M Hartman Mikael M
Sangrajrang S Sangrajrang Suleeporn S
Shen CY Shen Chen-Yang CY
Southey MC Southey Melissa C MC
Park DJ Park Daniel J DJ
Hammet F Hammet Fleur F
Stone J Stone Jennifer J
Veer LJ Veer Laura J Van't LJ
Rutgers EJ Rutgers Emiel J EJ
Lophatananon A Lophatananon Artitaya A
Stewart-Brown S Stewart-Brown Sarah S
Siriwanarangsan P Siriwanarangsan Pornthep P
Peto J Peto Julian J
Schrauder MG Schrauder Michael G MG
Ekici AB Ekici Arif B AB
Beckmann MW Beckmann Matthias W MW
Dos Santos Silva I Dos Santos Silva Isabel I
Johnson N Johnson Nichola N
Warren H Warren Helen H
Tomlinson I Tomlinson Ian I
Kerin MJ Kerin Michael J MJ
Miller N Miller Nicola N
Marme F Marme Federick F
Schneeweiss A Schneeweiss Andreas A
Sohn C Sohn Christof C
Truong T Truong Therese T
Laurent-Puig P Laurent-Puig Pierre P
Kerbrat P Kerbrat Pierre P
Nordestgaard BG Nordestgaard Børge G BG
Nielsen SF Nielsen Sune F SF
Flyger H Flyger Henrik H
Milne RL Milne Roger L RL
Perez JI Perez Jose Ignacio Arias JI
Menéndez P Menéndez Primitiva P
Müller H Müller Heiko H
Arndt V Arndt Volker V
Stegmaier C Stegmaier Christa C
Lichtner P Lichtner Peter P
Lochmann M Lochmann Magdalena M
Justenhoven C Justenhoven Christina C
Ko YD Ko Yon-Dschun YD
Gene ENvironmental Interaction and breast CAncer (GENICA) Network
Muranen TA Muranen Taru A TA
Aittomäki K Aittomäki Kristiina K
Blomqvist C Blomqvist Carl C
Greco D Greco Dario D
Heikkinen T Heikkinen Tuomas T
Ito H Ito Hidemi H
Iwata H Iwata Hiroji H
Yatabe Y Yatabe Yasushi Y
Antonenkova NN Antonenkova Natalia N NN
Margolin S Margolin Sara S
Kataja V Kataja Vesa V
Kosma VM Kosma Veli-Matti VM
Hartikainen JM Hartikainen Jaana M JM
Balleine R Balleine Rosemary R
kConFab Investigators
Tseng CC Tseng Chiu-Chen CC
Berg DV Berg David Van Den DV
Stram DO Stram Daniel O DO
Neven P Neven Patrick P
Dieudonné AS Dieudonné Anne-Sophie AS
Leunen K Leunen Karin K
Rudolph A Rudolph Anja A
Nickels S Nickels Stefan S
Flesch-Janys D Flesch-Janys Dieter D
Peterlongo P Peterlongo Paolo P
Peissel B Peissel Bernard B
Bernard L Bernard Loris L
Olson JE Olson Janet E JE
Wang X Wang Xianshu X
Stevens K Stevens Kristen K
Severi G Severi Gianluca G
Baglietto L Baglietto Laura L
McLean C McLean Catriona C
Coetzee GA Coetzee Gerhard A GA
Feng Y Feng Ye Y
Henderson BE Henderson Brian E BE
Schumacher F Schumacher Fredrick F
Bogdanova NV Bogdanova Natalia V NV
Labrèche F Labrèche France F
Dumont M Dumont Martine M
Yip CH Yip Cheng Har CH
Taib NA Taib Nur Aishah Mohd NA
Cheng CY Cheng Ching-Yu CY
Shrubsole M Shrubsole Martha M
Long J Long Jirong J
Pylkäs K Pylkäs Katri K
Jukkola-Vuorinen A Jukkola-Vuorinen Arja A
Kauppila S Kauppila Saila S
Knight JA Knight Julia A JA
Glendon G Glendon Gord G
Mulligan AM Mulligan Anna Marie AM
Tollenaar RA Tollenaar Robertus A E M RA
Seynaeve CM Seynaeve Caroline M CM
Kriege M Kriege Mieke M
Hooning MJ Hooning Maartje J MJ
van den Ouweland AM van den Ouweland Ans M W AM
van Deurzen CH van Deurzen Carolien H M CH
Lu W Lu Wei W
Gao YT Gao Yu-Tang YT
Cai H Cai Hui H
Balasubramanian SP Balasubramanian Sabapathy P SP
Cross SS Cross Simon S SS
Reed MW Reed Malcolm W R MW
Signorello L Signorello Lisa L
Cai Q Cai Qiuyin Q
Shah M Shah Mitul M
Miao H Miao Hui H
Chan CW Chan Ching Wan CW
Chia KS Chia Kee Seng KS
Jakubowska A Jakubowska Anna A
Jaworska K Jaworska Katarzyna K
Durda K Durda Katarzyna K
Hsiung CN Hsiung Chia-Ni CN
Wu PE Wu Pei-Ei PE
Yu JC Yu Jyh-Cherng JC
Ashworth A Ashworth Alan A
Jones M Jones Michael M
Tessier DC Tessier Daniel C DC
González-Neira A González-Neira Anna A
Pita G Pita Guillermo G
Alonso MR Alonso M Rosario MR
Vincent D Vincent Daniel D
Bacot F Bacot Francois F
Ambrosone CB Ambrosone Christine B CB
Bandera EV Bandera Elisa V EV
John EM John Esther M EM
Chen GK Chen Gary K GK
Hu JJ Hu Jennifer J JJ
Rodriguez-Gil JL Rodriguez-Gil Jorge L JL
Bernstein L Bernstein Leslie L
Press MF Press Michael F MF
Ziegler RG Ziegler Regina G RG
Millikan RM Millikan Robert M RM
Deming-Halverson SL Deming-Halverson Sandra L SL
Nyante S Nyante Sarah S
Ingles SA Ingles Sue A SA
Waisfisz Q Waisfisz Quinten Q
Tsimiklis H Tsimiklis Helen H
Makalic E Makalic Enes E
Schmidt D Schmidt Daniel D
Bui M Bui Minh M
Gibson L Gibson Lorna L
Müller-Myhsok B Müller-Myhsok Bertram B
Schmutzler RK Schmutzler Rita K RK
Hein R Hein Rebecca R
Dahmen N Dahmen Norbert N
Beckmann L Beckmann Lars L
Aaltonen K Aaltonen Kirsimari K
Czene K Czene Kamila K
Irwanto A Irwanto Astrid A
Liu J Liu Jianjun J
Turnbull C Turnbull Clare C
Familial Breast Cancer Study (FBCS)
Rahman N Rahman Nazneen N
Meijers-Heijboer H Meijers-Heijboer Hanne H
Uitterlinden AG Uitterlinden Andre G AG
Rivadeneira F Rivadeneira Fernando F
Australian Breast Cancer Tissue Bank (ABCTB) Investigators
Olswold C Olswold Curtis C
Slager S Slager Susan S
Pilarski R Pilarski Robert R
Ademuyiwa F Ademuyiwa Foluso F
Konstantopoulou I Konstantopoulou Irene I
Martin NG Martin Nicholas G NG
Montgomery GW Montgomery Grant W GW
Slamon DJ Slamon Dennis J DJ
Rauh C Rauh Claudia C
Lux MP Lux Michael P MP
Jud SM Jud Sebastian M SM
Bruning T Bruning Thomas T
Weaver J Weaver Joellen J
Sharma P Sharma Priyanka P
Pathak H Pathak Harsh H
Tapper W Tapper Will W
Gerty S Gerty Sue S
Durcan L Durcan Lorraine L
Trichopoulos D Trichopoulos Dimitrios D
Tumino R Tumino Rosario R
Peeters PH Peeters Petra H PH
Kaaks R Kaaks Rudolf R
Campa D Campa Daniele D
Canzian F Canzian Federico F
Weiderpass E Weiderpass Elisabete E
Johansson M Johansson Mattias M
Khaw KT Khaw Kay-Tee KT
Travis R Travis Ruth R
Clavel-Chapelon F Clavel-Chapelon Françoise F
Kolonel LN Kolonel Laurence N LN
Chen C Chen Constance C
Beck A Beck Andy A
Hankinson SE Hankinson Susan E SE
Berg CD Berg Christine D CD
Hoover RN Hoover Robert N RN
Lissowska J Lissowska Jolanta J
Figueroa JD Figueroa Jonine D JD
Chasman DI Chasman Daniel I DI
Gaudet MM Gaudet Mia M MM
Diver WR Diver W Ryan WR
Willett WC Willett Walter C WC
Hunter DJ Hunter David J DJ
Simard J Simard Jacques J
Benitez J Benitez Javier J
Dunning AM Dunning Alison M AM
Sherman ME Sherman Mark E ME
Chenevix-Trench G Chenevix-Trench Georgia G
Chanock SJ Chanock Stephen J SJ
Hall P Hall Per P
Pharoah PD Pharoah Paul D P PD
Vachon C Vachon Celine C
Easton DF Easton Douglas F DF
Haiman CA Haiman Christopher A CA
Kraft P Kraft Peter P
INVESTIGATORS
JOURNAL
VOLUME: 45
ISSUE: 4
TITLE: Nature genetics
ISOABBREVIATION: Nat Genet
YEAR: 2013
MONTH: Apr
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1546-1718
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Nat Genet
COUNTRY: United States
ISSNLINKING: 1061-4036
NLMUNIQUEID: 9216904
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GRANTID AGENCY COUNTRY
U01 CA069417 NCI NIH HHS United States
U19 CA 148065-01 NCI NIH HHS United States
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P30 CA016086 NCI NIH HHS United States
K07 CA092044 NCI NIH HHS United States
U01 CA098216 NCI NIH HHS United States
R01 CA128978 NCI NIH HHS United States
090532 Wellcome Trust United Kingdom
U01 CA098758 NCI NIH HHS United States
U01 CA069446 NCI NIH HHS United States
10118 Cancer Research UK United Kingdom
U01 CA098710 NCI NIH HHS United States
U01 CA069638 NCI NIH HHS United States
CA116201 NCI NIH HHS United States
P30 CA016056 NCI NIH HHS United States
C1287/A10710 Cancer Research UK United Kingdom
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U01-CA98216 NCI NIH HHS United States
R01 CA092447 NCI NIH HHS United States
R01 CA073629 NCI NIH HHS United States
11022 Cancer Research UK United Kingdom
CA122340 NCI NIH HHS United States
CIHR Canada
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BREAST CANCER NOW RESEARCH CENTRE Breast Cancer Now United Kingdom
G1000143 Medical Research Council United Kingdom
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14136 Cancer Research UK United Kingdom
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G0401527 Medical Research Council United Kingdom
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C1287/A12014 Cancer Research UK United Kingdom
U01 CA069631 NCI NIH HHS United States
U01 CA098233 NCI NIH HHS United States
R01 CA077398 NCI NIH HHS United States
R01 CA132839 NCI NIH HHS United States
U01-CA98758 NCI NIH HHS United States
U19 CA148065 NCI NIH HHS United States
R01 CA122340 NCI NIH HHS United States
C1287/A10118 Cancer Research UK United Kingdom
R37 CA054281 NCI NIH HHS United States
10124 Cancer Research UK United Kingdom
R01 CA100598 NCI NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Breast Neoplasms pathology
Case-Control Studies pathology
Cooperative Behavior pathology
Female pathology
Genetic Loci genetics
Genetic Predisposition to Disease genetics
Genome-Wide Association Study genetics
Genotype genetics
Humans genetics
Meta-Analysis as Topic genetics
Oligonucleotide Array Sequence Analysis genetics
Polymorphism, Single Nucleotide genetics
Receptors, Estrogen metabolism
Risk Factors metabolism
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Receptors, Estrogen
OTHER ID's
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