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| PMID |
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| TITLE |
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| Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers. |
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| ABSTRACT |
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| Genetic variation at the TERT-CLPTM1L locus at 5p15.33 is associated with susceptibility to several cancers, including epithelial ovarian cancer (EOC). We have carried out fine-mapping of this region in EOC which implicates an association with a single nucleotide polymorphism (SNP) within the TERT promoter. We demonstrate that the minor alleles at rs2736109, and at an additional TERT promoter SNP, rs2736108, are associated with decreased breast cancer risk, and that the combination of both SNPs substantially reduces TERT promoter activity. |
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| DATE PUBLISHED |
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| HISTORY |
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| PUBSTATUS |
PUBSTATUSDATE |
| received |
2011/08/12 |
| accepted |
2011/08/21 |
| entrez |
2011/09/28 06:00 |
| pubmed |
2011/09/29 06:00 |
| medline |
2012/02/04 06:00 |
|
| AUTHORS |
|
| NAME |
COLLECTIVENAME |
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
AFFILIATIONINFO |
| Beesley J |
|
Beesley |
Jonathan |
J |
|
Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Queensland, Australia. jonathan.beesley@qimr.edu.au |
| Pickett HA |
|
Pickett |
Hilda A |
HA |
|
|
| Johnatty SE |
|
Johnatty |
Sharon E |
SE |
|
|
| Dunning AM |
|
Dunning |
Alison M |
AM |
|
|
| Chen X |
|
Chen |
Xiaoqing |
X |
|
|
| Li J |
|
Li |
Jun |
J |
|
|
| Michailidou K |
|
Michailidou |
Kyriaki |
K |
|
|
| Lu Y |
|
Lu |
Yi |
Y |
|
|
| Rider DN |
|
Rider |
David N |
DN |
|
|
| Palmieri RT |
|
Palmieri |
Rachel T |
RT |
|
|
| Stutz MD |
|
Stutz |
Michael D |
MD |
|
|
| Lambrechts D |
|
Lambrechts |
Diether |
D |
|
|
| Despierre E |
|
Despierre |
Evelyn |
E |
|
|
| Lambrechts S |
|
Lambrechts |
Sandrina |
S |
|
|
| Vergote I |
|
Vergote |
Ignace |
I |
|
|
| Chang-Claude J |
|
Chang-Claude |
Jenny |
J |
|
|
| Nickels S |
|
Nickels |
Stefan |
S |
|
|
| Vrieling A |
|
Vrieling |
Alina |
A |
|
|
| Flesch-Janys D |
|
Flesch-Janys |
Dieter |
D |
|
|
| Wang-Gohrke S |
|
Wang-Gohrke |
Shan |
S |
|
|
| Eilber U |
|
Eilber |
Ursula |
U |
|
|
| Bogdanova N |
|
Bogdanova |
Natalia |
N |
|
|
| Antonenkova N |
|
Antonenkova |
Natalia |
N |
|
|
| Runnebaum IB |
|
Runnebaum |
Ingo B |
IB |
|
|
| Dörk T |
|
Dörk |
Thilo |
T |
|
|
| Goodman MT |
|
Goodman |
Marc T |
MT |
|
|
| Lurie G |
|
Lurie |
Galina |
G |
|
|
| Wilkens LR |
|
Wilkens |
Lynne R |
LR |
|
|
| Matsuno RK |
|
Matsuno |
Rayna K |
RK |
|
|
| Kiemeney LA |
|
Kiemeney |
Lambertus A |
LA |
|
|
| Aben KK |
|
Aben |
Katja K H |
KK |
|
|
| Marees T |
|
Marees |
Tamara |
T |
|
|
| Massuger LF |
|
Massuger |
Leon F A G |
LF |
|
|
| Fridley BL |
|
Fridley |
Brooke L |
BL |
|
|
| Vierkant RA |
|
Vierkant |
Robert A |
RA |
|
|
| Bandera EV |
|
Bandera |
Elisa V |
EV |
|
|
| Olson SH |
|
Olson |
Sara H |
SH |
|
|
| Orlow I |
|
Orlow |
Irene |
I |
|
|
| Rodriguez-Rodriguez L |
|
Rodriguez-Rodriguez |
Lorna |
L |
|
|
| Cook LS |
|
Cook |
Linda S |
LS |
|
|
| Le ND |
|
Le |
Nhu D |
ND |
|
|
| Brooks-Wilson A |
|
Brooks-Wilson |
Angela |
A |
|
|
| Kelemen LE |
|
Kelemen |
Linda E |
LE |
|
|
| Campbell I |
|
Campbell |
Ian |
I |
|
|
| Gayther SA |
|
Gayther |
Simon A |
SA |
|
|
| Ramus SJ |
|
Ramus |
Susan J |
SJ |
|
|
| Gentry-Maharaj A |
|
Gentry-Maharaj |
Aleksandra |
A |
|
|
| Menon U |
|
Menon |
Usha |
U |
|
|
| Ahmed S |
|
Ahmed |
Shahana |
S |
|
|
| Baynes C |
|
Baynes |
Caroline |
C |
|
|
| Pharoah PD |
|
Pharoah |
Paul D |
PD |
|
|
|
kConFab Investigators |
|
|
|
|
|
|
Australian Ovarian Cancer Study Group |
|
|
|
|
|
|
ABCTB Investigators |
|
|
|
|
|
| Muir K |
|
Muir |
Kenneth |
K |
|
|
| Lophatananon A |
|
Lophatananon |
Artitaya |
A |
|
|
| Chaiwerawattana A |
|
Chaiwerawattana |
Arkom |
A |
|
|
| Wiangnon S |
|
Wiangnon |
Surapon |
S |
|
|
| Macgregor S |
|
Macgregor |
Stuart |
S |
|
|
| Easton DF |
|
Easton |
Douglas F |
DF |
|
|
| Reddel RR |
|
Reddel |
Roger R |
RR |
|
|
| Goode EL |
|
Goode |
Ellen L |
EL |
|
|
| Chenevix-Trench G |
|
Chenevix-Trench |
Georgia |
G |
|
|
|
Ovarian Cancer Association Consortium |
|
|
|
|
|
|
| INVESTIGATORS |
|
|
| JOURNAL |
|
| VOLUME: 6 |
| ISSUE: 9 |
| TITLE: PloS one |
| ISOABBREVIATION: PLoS One |
| YEAR: 2011 |
| MONTH: |
| DAY: |
| MEDLINEDATE: |
| SEASON: |
| CITEDMEDIUM: Internet |
| ISSN: 1932-6203 |
| ISSNTYPE: Electronic |
|
| MEDLINE JOURNAL |
|
| MEDLINETA: PLoS One |
| COUNTRY: United States |
| ISSNLINKING: 1932-6203 |
| NLMUNIQUEID: 101285081 |
|
| 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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|
|
| GRANTS |
|
| GRANTID |
AGENCY |
COUNTRY |
| C490/A11021 |
Cancer Research UK |
United Kingdom |
| N01-PC-67001 |
NCI NIH HHS |
United States |
| R01 CA058598 |
NCI NIH HHS |
United States |
| A10119 |
Cancer Research UK |
United Kingdom |
| R01 CA122443 |
NCI NIH HHS |
United States |
| A10124 |
Cancer Research UK |
United Kingdom |
| 10124 |
Cancer Research UK |
United Kingdom |
| K22 CA138563 |
NCI NIH HHS |
United States |
| 11022 |
Cancer Research UK |
United Kingdom |
| R01CA83918 |
NCI NIH HHS |
United States |
|
CIHR |
Canada |
|
Department of Health |
United Kingdom |
| C8197/A10123 |
Cancer Research UK |
United Kingdom |
| P50 CA136939 |
NCI NIH HHS |
United States |
| R01 CA083918 |
NCI NIH HHS |
United States |
| N01-CN-55424 |
NCI NIH HHS |
United States |
| G0801875 |
Medical Research Council |
United Kingdom |
| R01 CA58598 |
NCI NIH HHS |
United States |
| K07 CA095666 |
NCI NIH HHS |
United States |
| 10118 |
Cancer Research UK |
United Kingdom |
| C1287/A10118 |
Cancer Research UK |
United Kingdom |
| P50 CA136393 |
NCI NIH HHS |
United States |
|
| GENERAL NOTE |
|
|
| KEYWORDS |
|
|
| MESH HEADINGS |
|
| DESCRIPTORNAME |
QUALIFIERNAME |
| Breast Neoplasms |
genetics |
| Case-Control Studies |
genetics |
| Cystadenocarcinoma, Serous |
genetics |
| Female |
genetics |
| Humans |
genetics |
| Neoplasms, Glandular and Epithelial |
genetics |
| Ovarian Neoplasms |
genetics |
| Polymorphism, Single Nucleotide |
genetics |
| Prognosis |
genetics |
| Telomerase |
genetics |
|
| SUPPLEMENTARY MESH |
|
|
| GENE SYMBOLS |
|
|
| CHEMICALS |
|
| REGISTRYNUMBER |
NAMEOFSUBSTANCE |
| EC 2.7.7.49 |
TERT protein, human |
| EC 2.7.7.49 |
Telomerase |
|
| OTHER ID's |
|
|
|
