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| PMID |
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| TITLE |
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| A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. |
|
| ABSTRACT |
|
|
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| 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. |
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| DATE PUBLISHED |
|
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| 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 |
|
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| 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 |
|
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| Henderson BE |
|
Henderson |
Brian E |
BE |
|
|
| Couch FJ |
|
Couch |
Fergus J |
FJ |
|
|
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| INVESTIGATORS |
|
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| 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 |
| Cites |
Proc Natl Acad Sci U S A. 2001 Sep 11;98(19):10869-74 |
11553815 |
|
| 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 |
|
|
