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
22037553
TITLE
A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer.
ABSTRACT
Estrogen receptor (ER)-negative breast cancer shows a higher incidence in women of African ancestry compared to women of European ancestry. In search of common risk alleles for ER-negative breast cancer, we combined genome-wide association study (GWAS) data from women of African ancestry (1,004 ER-negative cases and 2,745 controls) and European ancestry (1,718 ER-negative cases and 3,670 controls), with replication testing conducted in an additional 2,292 ER-negative cases and 16,901 controls of European ancestry. We identified a common risk variant for ER-negative breast cancer at the TERT-CLPTM1L locus on chromosome 5p15 (rs10069690: per-allele odds ratio (OR) = 1.18 per allele, P = 1.0 × 10(-10)). The variant was also significantly associated with triple-negative (ER-negative, progesterone receptor (PR)-negative and human epidermal growth factor-2 (HER2)-negative) breast cancer (OR = 1.25, P = 1.1 × 10(-9)), particularly in younger women (<50 years of age) (OR = 1.48, P = 1.9 × 10(-9)). Our results identify a genetic locus associated with estrogen receptor negative breast cancer subtypes in multiple populations.
DATE PUBLISHED
2011 Dec
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2011/05/03
accepted 2011/09/28
aheadofprint 2011/10/30
entrez 2011/11/01 06:00
pubmed 2011/11/01 06:00
medline 2012/01/21 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Haiman CA Haiman Christopher A CA Department of Preventive Medicine, Keck School of Medicine, University of Southern California/Norris Comprehensive Cancer Center, Los Angeles, USA. haiman@usc.edu
Chen GK Chen Gary K GK
Vachon CM Vachon Celine M CM
Canzian F Canzian Federico F
Dunning A Dunning Alison A
Millikan RC Millikan Robert C RC
Wang X Wang Xianshu X
Ademuyiwa F Ademuyiwa Foluso F
Ahmed S Ahmed Shahana S
Ambrosone CB Ambrosone Christine B CB
Baglietto L Baglietto Laura L
Balleine R Balleine Rosemary R
Bandera EV Bandera Elisa V EV
Beckmann MW Beckmann Matthias W MW
Berg CD Berg Christine D CD
Bernstein L Bernstein Leslie L
Blomqvist C Blomqvist Carl C
Blot WJ Blot William J WJ
Brauch H Brauch Hiltrud H
Buring JE Buring Julie E JE
Carey LA Carey Lisa A LA
Carpenter JE Carpenter Jane E JE
Chang-Claude J Chang-Claude Jenny J
Chanock SJ Chanock Stephen J SJ
Chasman DI Chasman Daniel I DI
Clarke CL Clarke Christine L CL
Cox A Cox Angela A
Cross SS Cross Simon S SS
Deming SL Deming Sandra L SL
Diasio RB Diasio Robert B RB
Dimopoulos AM Dimopoulos Athanasios M AM
Driver WR Driver W Ryan WR
Dünnebier T Dünnebier Thomas T
Durcan L Durcan Lorraine L
Eccles D Eccles Diana D
Edlund CK Edlund Christopher K CK
Ekici AB Ekici Arif B AB
Fasching PA Fasching Peter A PA
Feigelson HS Feigelson Heather S HS
Flesch-Janys D Flesch-Janys Dieter D
Fostira F Fostira Florentia F
Försti A Försti Asta A
Fountzilas G Fountzilas George G
Gerty SM Gerty Susan M SM
Gene Environment Interaction and Breast Cancer in Germany (GENICA) Consortium
Giles GG Giles Graham G GG
Godwin AK Godwin Andrew K AK
Goodfellow P Goodfellow Paul P
Graham N Graham Nikki N
Greco D Greco Dario D
Hamann U Hamann Ute U
Hankinson SE Hankinson Susan E SE
Hartmann A Hartmann Arndt A
Hein R Hein Rebecca R
Heinz J Heinz Judith J
Holbrook A Holbrook Andrea A
Hoover RN Hoover Robert N RN
Hu JJ Hu Jennifer J JJ
Hunter DJ Hunter David J DJ
Ingles SA Ingles Sue A SA
Irwanto A Irwanto Astrid A
Ivanovich J Ivanovich Jennifer J
John EM John Esther M EM
Johnson N Johnson Nicola N
Jukkola-Vuorinen A Jukkola-Vuorinen Arja A
Kaaks R Kaaks Rudolf R
Ko YD Ko Yon-Dschun YD
Kolonel LN Kolonel Laurence N LN
Konstantopoulou I Konstantopoulou Irene I
Kosma VM Kosma Veli-Matti VM
Kulkarni S Kulkarni Swati S
Lambrechts D Lambrechts Diether D
Lee AM Lee Adam M AM
Marchand LL Marchand Loïc Le LL
Lesnick T Lesnick Timothy T
Liu J Liu Jianjun J
Lindstrom S Lindstrom Sara S
Mannermaa A Mannermaa Arto A
Margolin S Margolin Sara S
Martin NG Martin Nicholas G NG
Miron P Miron Penelope P
Montgomery GW Montgomery Grant W GW
Nevanlinna H Nevanlinna Heli H
Nickels S Nickels Stephan S
Nyante S Nyante Sarah S
Olswold C Olswold Curtis C
Palmer J Palmer Julie J
Pathak H Pathak Harsh H
Pectasides D Pectasides Dimitrios D
Perou CM Perou Charles M CM
Peto J Peto Julian J
Pharoah PD Pharoah Paul D P PD
Pooler LC Pooler Loreall C LC
Press MF Press Michael F MF
Pylkäs K Pylkäs Katri K
Rebbeck TR Rebbeck Timothy R TR
Rodriguez-Gil JL Rodriguez-Gil Jorge L JL
Rosenberg L Rosenberg Lynn L
Ross E Ross Eric E
Rüdiger T Rüdiger Thomas T
Silva Idos S Silva Isabel dos Santos Idos S
Sawyer E Sawyer Elinor E
Schmidt MK Schmidt Marjanka K MK
Schulz-Wendtland R Schulz-Wendtland Rüdiger R
Schumacher F Schumacher Fredrick F
Severi G Severi Gianluca G
Sheng X Sheng Xin X
Signorello LB Signorello Lisa B LB
Sinn HP Sinn Hans-Peter HP
Stevens KN Stevens Kristen N KN
Southey MC Southey Melissa C MC
Tapper WJ Tapper William J WJ
Tomlinson I Tomlinson Ian I
Hogervorst FB Hogervorst Frans B L FB
Wauters E Wauters Els E
Weaver J Weaver JoEllen J
Wildiers H Wildiers Hans H
Winqvist R Winqvist Robert R
Van Den Berg D Van Den Berg David D
Wan P Wan Peggy P
Xia LY Xia Lucy Y LY
Yannoukakos D Yannoukakos Drakoulis D
Zheng W Zheng Wei W
Ziegler RG Ziegler Regina G RG
Siddiq A Siddiq Afshan A
Slager SL Slager Susan L SL
Stram DO Stram Daniel O DO
Easton D Easton Douglas D
Kraft P Kraft Peter P
Henderson BE Henderson Brian E BE
Couch FJ Couch Fergus J FJ
INVESTIGATORS
JOURNAL
VOLUME: 43
ISSUE: 12
TITLE: Nature genetics
ISOABBREVIATION: Nat. Genet.
YEAR: 2011
MONTH: Dec
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
Research Support, U.S. Gov't, Non-P.H.S.
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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Cites Nat Genet. 2011 Jan;43(1):60-5 21131975
Cites Nature. 2007 Jun 28;447(7148):1087-93 17529967
Cites Nat Genet. 2007 Aug;39(8):954-6 17618282
Cites Nat Genet. 2008 Mar;40(3):310-5 18264096
Cites Nat Genet. 2008 Nov;40(11):1307-12 18794855
Cites Nat Genet. 2008 Dec;40(12):1404-6 18978790
Cites Nat Genet. 2009 Aug;41(8):899-904 19578367
Cites J Clin Oncol. 2009 Sep 20;27(27):4515-21 19704069
Cites Expert Rev Mol Med. 2010;12:e16 20478107
Cites Nat Genet. 2010 Jun;42(6):504-7 20453838
Cites PLoS Genet. 2010 Jul;6(7):e1001016 20628624
Cites Nat Genet. 2010 Oct;42(10):885-92 20852631
Cites Nat Genet. 2010 Oct;42(10):880-4 20852633
Cites JAMA. 2006 Jun 7;295(21):2492-502 16757721
GRANTS
GRANTID AGENCY COUNTRY
090532 Wellcome Trust United Kingdom
10118 Cancer Research UK United Kingdom
CA122340 NCI NIH HHS United States
CA128978 NCI NIH HHS United States
CA148065 NCI NIH HHS United States
P30 CA016086 NCI NIH HHS United States
P30 ES010126 NIEHS NIH HHS United States
R01 CA092447 NCI NIH HHS United States
R01 CA122340 NCI NIH HHS United States
R01 CA122340-04 NCI NIH HHS United States
R01 CA128978 NCI NIH HHS United States
R01 CA128978-04 NCI NIH HHS United States
R25 CA092049 NCI NIH HHS United States
U19 CA148065 NCI NIH HHS United States
U19 CA148065-02 NCI NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
African Americans
Aged
Breast Neoplasms metabolism
Case-Control Studies metabolism
European Continental Ancestry Group metabolism
Female metabolism
Genetic Loci metabolism
Genetic Predisposition to Disease metabolism
Genome-Wide Association Study metabolism
Genotype metabolism
Humans metabolism
Membrane Proteins genetics
Middle Aged genetics
Neoplasm Proteins genetics
Polymorphism, Single Nucleotide genetics
Receptors, Estrogen metabolism
Telomerase genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 CLPTM1L protein, human
0 Membrane Proteins
0 Neoplasm Proteins
0 Receptors, Estrogen
EC 2.7.7.49 TERT protein, human
EC 2.7.7.49 Telomerase
OTHER ID's
OTHERID SOURCE
NIHMS353821 NLM
PMC3279120 NLM