Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.
Stig EBojesen;
Karen APooley;
Sharon EJohnatty;
JonathanBeesley;
KyriakiMichailidou;
Jonathan PTyrer;
Stacey LEdwards;
Hilda APickett;
Howard CShen;
Chanel ESmart;
+435 more...
Kristine MHillman;
Phuong LMai;
KateLawrenson;
Michael DStutz;
YiLu;
RodKarevan;
NicholasWoods;
Rebecca LJohnston;
Juliet DFrench;
XiaoqingChen;
MarenWeischer;
Sune FNielsen;
Melanie JMaranian;
MayaGhoussaini;
ShahanaAhmed;
CarolineBaynes;
Manjeet KBolla;
QinWang;
JoeDennis;
LesleyMcGuffog;
DanielBarrowdale;
AndrewLee;
SueHealey;
MichaelLush;
Daniel CTessier;
DanielVincent;
FrançisBacot;
Australian Cancer Study;
Australian Ovarian Cancer Study;
Kathleen Cuningham Foundation Consortium for Research into Famil;
Gene Environment Interaction and Breast Cancer (GENICA);
Swedish Breast Cancer Study (SWE-BRCA);
Hereditary Breast and Ovarian Cancer Research Group Netherlands ;
Epidemiological study of BRCA1 & BRCA2 Mutation Carriers ;
Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers ;
IgnaceVergote;
SandrinaLambrechts;
EvelynDespierre;
Harvey ARisch;
AnnaGonzález-Neira;
Mary AnneRossing;
GuillermoPita;
Jennifer ADoherty;
NuriaAlvarez;
Melissa CLarson;
Brooke LFridley;
NilsSchoof;
JennyChang-Claude;
Mine SCicek;
Julian Peto 
;
Kimberly RKalli;
AnnegienBroeks;
Sebastian MArmasu;
Marjanka KSchmidt;
Linde MBraaf;
BorisWinterhoff;
HeliNevanlinna;
Gottfried EKonecny;
DietherLambrechts;
LisaRogmann;
PascalGuénel;
AttilaTeoman;
Roger LMilne;
Joaquin JGarcia;
AngelaCox;
VijayalakshmiShridhar;
BarbaraBurwinkel;
FrederikMarme;
RebeccaHein;
Elinor JSawyer;
Christopher AHaiman;
ShanWang-Gohrke;
Irene LAndrulis;
Kirsten BMoysich;
John LHopper;
KunleOdunsi;
AnnikaLindblom;
Graham GGiles;
HermannBrenner;
JacquesSimard;
GalinaLurie;
Peter AFasching;
Michael ECarney;
PaoloRadice;
Lynne RWilkens;
AnthonySwerdlow;
Marc TGoodman;
HiltrudBrauch;
MontserratGarcia-Closas;
PeterHillemanns;
RobertWinqvist;
MatthiasDürst;
PeterDevilee;
IngoRunnebaum;
AnnaJakubowska;
JanLubinski;
ArtoMannermaa;
RalfButzow;
Natalia VBogdanova;
ThiloDörk;
Liisa MPelttari;
WeiZheng;
ArtoLeminen;
HodaAnton-Culver;
Clareann HBunker;
VesselaKristensen;
Roberta BNess;
KennethMuir;
RobertEdwards;
AlfonsMeindl;
FlorianHeitz;
KeitaroMatsuo;
Andreasdu Bois;
Anna HWu;
PhilippHarter;
Soo-HwangTeo;
IraSchwaab;
Xiao-OuShu;
WilliamBlot;
SatoyoHosono;
DaeheeKang;
ToruNakanishi;
MikaelHartman;
YasushiYatabe;
UteHamann;
Beth YKarlan;
SuleepornSangrajrang;
Susanne KrügerKjaer;
ValerieGaborieau;
AllanJensen;
DianaEccles;
EstridHøgdall;
Chen-YangShen;
JudithBrown;
Yin LingWoo;
MitulShah;
Mat Adenan NoorAzmi;
RobertLuben;
Siti ZawiahOmar;
KamilaCzene;
Robert AVierkant;
Børge GNordestgaard;
HenrikFlyger;
CelineVachon;
Janet EOlson;
XianshuWang;
Douglas ALevine;
AnjaRudolph;
Rachel PalmieriWeber;
DieterFlesch-Janys;
EdwinIversen;
StefanNickels;
Joellen MSchildkraut;
Isabel Dos SantosSilva;
Daniel WCramer;
Lorna Gibson ;
Kathryn LTerry;
OliviaFletcher;
Allison FVitonis;
C Ellenvan der Schoot;
Elizabeth MPoole;
Frans BLHogervorst;
Shelley STworoger;
JianjunLiu;
Elisa VBandera;
JingmeiLi;
Sara HOlson;
KeithHumphreys;
IreneOrlow;
CarlBlomqvist;
LornaRodriguez-Rodriguez;
KristiinaAittomäki;
Helga BSalvesen;
Taru AMuranen;
ElisabethWik;
BarbaraBrouwers;
CamillaKrakstad;
ElsWauters;
Mari KHalle;
HansWildiers;
Lambertus AKiemeney;
ClaireMulot;
Katja KAben;
PierreLaurent-Puig;
Anne MvanAltena;
ThérèseTruong;
Leon FAGMassuger;
JavierBenitez;
TanjaPejovic;
Jose Ignacio AriasPerez;
MaureenHoatlin;
M PilarZamora;
Linda SCook;
Sabapathy PBalasubramanian;
Linda EKelemen;
AndreasSchneeweiss;
Nhu DLe;
ChristofSohn;
AngelaBrooks-Wilson;
IanTomlinson;
Michael JKerin;
NicolaMiller;
CezaryCybulski;
Brian EHenderson;
JanuszMenkiszak;
FredrickSchumacher;
NicolasWentzensen;
LoicLe Marchand;
Hannah PYang;
Anna MarieMulligan;
GordGlendon;
Svend AageEngelholm;
Julia AKnight;
Claus KHøgdall;
CarmelApicella;
MartinGore;
HelenTsimiklis;
HonglinSong;
Melissa CSouthey;
AgnesJager;
Ans M Wvanden Ouweland;
RobertBrown;
John WMMartens;
James MFlanagan;
MiekeKriege;
JamesPaul;
SaraMargolin;
NadeemSiddiqui;
GianlucaSeveri;
Alice SWhittemore;
LauraBaglietto;
ValerieMcGuire;
ChristaStegmaier;
WeivaSieh;
HeikoMüller;
VolkerArndt;
FranceLabrèche;
Yu-TangGao;
Mark SGoldberg;
GongYang;
MartineDumont;
John RMcLaughlin;
ArndtHartmann;
Arif BEkici;
Matthias WBeckmann;
Catherine MPhelan;
Michael PLux;
JennyPermuth-Wey;
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MonicaBarile;
ArgyriosZiogas;
AlanAshworth;
AleksandraGentry-Maharaj;
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Susan JRamus;
NickOrr;
UshaMenon;
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ThomasBrüning;
Malcolm CPike;
Yon-DschunKo;
JolantaLissowska;
JonineFigueroa;
JolantaKupryjanczyk;
Stephen JChanock;
AgnieszkaDansonka-Mieszkowska;
ArjaJukkola-Vuorinen;
Iwona KRzepecka;
KatriPylkäs;
MariuszBidzinski;
SailaKauppila;
AntoinetteHollestelle;
CarolineSeynaeve;
Rob AEMTollenaar;
KatarzynaDurda;
KatarzynaJaworska;
Jaana MHartikainen;
Veli-MattiKosma;
VesaKataja;
Natalia NAntonenkova;
JirongLong;
MarthaShrubsole;
SandraDeming-Halverson;
ArtitayaLophatananon;
PornthepSiriwanarangsan;
SarahStewart-Brown;
NinaDitsch;
PeterLichtner;
Rita KSchmutzler;
HidemiIto;
HirojiIwata;
KazuoTajima;
Chiu-ChenTseng;
Daniel OStram;
Davidvan den Berg;
Cheng HarYip;
M KamranIkram;
Yew-ChingTeh;
HuiCai;
WeiLu;
Lisa BSignorello;
QiuyinCai;
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Keun-YoungYoo;
HuiMiao;
Philip Tsau-ChoongIau;
Yik YingTeo;
JamesMcKay;
CharlesShapiro;
FolusoAdemuyiwa;
GeorgeFountzilas;
Chia-NiHsiung;
Jyh-CherngYu;
Ming-FengHou;
Catherine SHealey;
CraigLuccarini;
SusanPeock;
DominiqueStoppa-Lyonnet;
PaoloPeterlongo;
Timothy RRebbeck;
MarionPiedmonte;
Christian FSinger;
EitanFriedman;
MadsThomassen;
KennethOffit;
Thomas VOHansen;
Susan LNeuhausen;
Csilla ISzabo;
IgnacioBlanco;
JudyGarber;
Steven ANarod;
Jeffrey NWeitzel;
MarcoMontagna;
EdithOlah;
Andrew KGodwin;
DrakoulisYannoukakos;
David EGoldgar;
TrinidadCaldes;
Evgeny NImyanitov;
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Banu KArun;
IanCampbell;
Arjen RMensenkamp;
Christi Jvan Asperen;
Kees EPvan Roozendaal;
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Jan COosterwijk;
Maartje JHooning;
Matti ARookus;
Rob Bvan der Luijt;
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D GarethEvans;
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LisaWalker;
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RadkaPlatte;
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Olga MSinilnikova;
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SylvieMazoyer;
ValérieBonadona;
VirginieCaux-Moncoutier;
AleksandraToloczko-Grabarek;
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TomaszByrski;
Amanda BSpurdle;
BernardoBonanni;
DanielaZaffaroni;
GiuseppeGiannini;
LorisBernard;
RiccardoDolcetti;
SiranoushManoukian;
NorbertArnold;
ChristophEngel;
HelmutDeissler;
KerstinRhiem;
DieterNiederacher;
HansjoergPlendl;
ChristianSutter;
BarbaraWappenschmidt;
AkeBorg;
BeatriceMelin;
JohannaRantala;
MariaSoller;
Katherine LNathanson;
Susan MDomchek;
Gustavo CRodriguez;
RituSalani;
Daphne GschwantlerKaulich;
Muy-KhengTea;
Shani ShimonPaluch;
YaelLaitman;
Anne-BineSkytte;
Torben AKruse;
Uffe BirkJensen;
MarkRobson;
Anne-MarieGerdes;
BentEjlertsen;
LenkaForetova;
Sharon ASavage;
JennyLester;
PennySoucy;
Karoline BKuchenbaecker;
CurtisOlswold;
Julie MCunningham;
SusanSlager;
Vernon SPankratz;
EdDicks;
Sunil RLakhani;
Fergus JCouch;
PerHall;
Alvaro NAMonteiro;
Simon AGayther;
Paul DPPharoah;
Roger RReddel;
Ellen LGoode;
Mark HGreene;
Douglas FEaston;
AndrewBerchuck;
Antonis CAntoniou;
GeorgiaChenevix-Trench;
Alison MDunning;
(2013)
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.
Nature genetics, 45 (4).
371-384e2.
ISSN 1061-4036
DOI: 10.1038/ng.2566
;
Kimberly RKalli;
AnnegienBroeks;
Sebastian MArmasu;
Marjanka KSchmidt;
Linde MBraaf;
BorisWinterhoff;
HeliNevanlinna;
Gottfried EKonecny;
DietherLambrechts;
LisaRogmann;
PascalGuénel;
AttilaTeoman;
Roger LMilne;
Joaquin JGarcia;
AngelaCox;
VijayalakshmiShridhar;
BarbaraBurwinkel;
FrederikMarme;
RebeccaHein;
Elinor JSawyer;
Christopher AHaiman;
ShanWang-Gohrke;
Irene LAndrulis;
Kirsten BMoysich;
John LHopper;
KunleOdunsi;
AnnikaLindblom;
Graham GGiles;
HermannBrenner;
JacquesSimard;
GalinaLurie;
Peter AFasching;
Michael ECarney;
PaoloRadice;
Lynne RWilkens;
AnthonySwerdlow;
Marc TGoodman;
HiltrudBrauch;
MontserratGarcia-Closas;
PeterHillemanns;
RobertWinqvist;
MatthiasDürst;
PeterDevilee;
IngoRunnebaum;
AnnaJakubowska;
JanLubinski;
ArtoMannermaa;
RalfButzow;
Natalia VBogdanova;
ThiloDörk;
Liisa MPelttari;
WeiZheng;
ArtoLeminen;
HodaAnton-Culver;
Clareann HBunker;
VesselaKristensen;
Roberta BNess;
KennethMuir;
RobertEdwards;
AlfonsMeindl;
FlorianHeitz;
KeitaroMatsuo;
Andreasdu Bois;
Anna HWu;
PhilippHarter;
Soo-HwangTeo;
IraSchwaab;
Xiao-OuShu;
WilliamBlot;
SatoyoHosono;
DaeheeKang;
ToruNakanishi;
MikaelHartman;
YasushiYatabe;
UteHamann;
Beth YKarlan;
SuleepornSangrajrang;
Susanne KrügerKjaer;
ValerieGaborieau;
AllanJensen;
DianaEccles;
EstridHøgdall;
Chen-YangShen;
JudithBrown;
Yin LingWoo;
MitulShah;
Mat Adenan NoorAzmi;
RobertLuben;
Siti ZawiahOmar;
KamilaCzene;
Robert AVierkant;
Børge GNordestgaard;
HenrikFlyger;
CelineVachon;
Janet EOlson;
XianshuWang;
Douglas ALevine;
AnjaRudolph;
Rachel PalmieriWeber;
DieterFlesch-Janys;
EdwinIversen;
StefanNickels;
Joellen MSchildkraut;
Isabel Dos SantosSilva;
Daniel WCramer;
Lorna Gibson ;
Kathryn LTerry;
OliviaFletcher;
Allison FVitonis;
C Ellenvan der Schoot;
Elizabeth MPoole;
Frans BLHogervorst;
Shelley STworoger;
JianjunLiu;
Elisa VBandera;
JingmeiLi;
Sara HOlson;
KeithHumphreys;
IreneOrlow;
CarlBlomqvist;
LornaRodriguez-Rodriguez;
KristiinaAittomäki;
Helga BSalvesen;
Taru AMuranen;
ElisabethWik;
BarbaraBrouwers;
CamillaKrakstad;
ElsWauters;
Mari KHalle;
HansWildiers;
Lambertus AKiemeney;
ClaireMulot;
Katja KAben;
PierreLaurent-Puig;
Anne MvanAltena;
ThérèseTruong;
Leon FAGMassuger;
JavierBenitez;
TanjaPejovic;
Jose Ignacio AriasPerez;
MaureenHoatlin;
M PilarZamora;
Linda SCook;
Sabapathy PBalasubramanian;
Linda EKelemen;
AndreasSchneeweiss;
Nhu DLe;
ChristofSohn;
AngelaBrooks-Wilson;
IanTomlinson;
Michael JKerin;
NicolaMiller;
CezaryCybulski;
Brian EHenderson;
JanuszMenkiszak;
FredrickSchumacher;
NicolasWentzensen;
LoicLe Marchand;
Hannah PYang;
Anna MarieMulligan;
GordGlendon;
Svend AageEngelholm;
Julia AKnight;
Claus KHøgdall;
CarmelApicella;
MartinGore;
HelenTsimiklis;
HonglinSong;
Melissa CSouthey;
AgnesJager;
Ans M Wvanden Ouweland;
RobertBrown;
John WMMartens;
James MFlanagan;
MiekeKriege;
JamesPaul;
SaraMargolin;
NadeemSiddiqui;
GianlucaSeveri;
Alice SWhittemore;
LauraBaglietto;
ValerieMcGuire;
ChristaStegmaier;
WeivaSieh;
HeikoMüller;
VolkerArndt;
FranceLabrèche;
Yu-TangGao;
Mark SGoldberg;
GongYang;
MartineDumont;
John RMcLaughlin;
ArndtHartmann;
Arif BEkici;
Matthias WBeckmann;
Catherine MPhelan;
Michael PLux;
JennyPermuth-Wey;
BernardPeissel;
Thomas ASellers;
FilomenaFicarazzi;
MonicaBarile;
ArgyriosZiogas;
AlanAshworth;
AleksandraGentry-Maharaj;
MichaelJones;
Susan JRamus;
NickOrr;
UshaMenon;
Celeste LPearce;
ThomasBrüning;
Malcolm CPike;
Yon-DschunKo;
JolantaLissowska;
JonineFigueroa;
JolantaKupryjanczyk;
Stephen JChanock;
AgnieszkaDansonka-Mieszkowska;
ArjaJukkola-Vuorinen;
Iwona KRzepecka;
KatriPylkäs;
MariuszBidzinski;
SailaKauppila;
AntoinetteHollestelle;
CarolineSeynaeve;
Rob AEMTollenaar;
KatarzynaDurda;
KatarzynaJaworska;
Jaana MHartikainen;
Veli-MattiKosma;
VesaKataja;
Natalia NAntonenkova;
JirongLong;
MarthaShrubsole;
SandraDeming-Halverson;
ArtitayaLophatananon;
PornthepSiriwanarangsan;
SarahStewart-Brown;
NinaDitsch;
PeterLichtner;
Rita KSchmutzler;
HidemiIto;
HirojiIwata;
KazuoTajima;
Chiu-ChenTseng;
Daniel OStram;
Davidvan den Berg;
Cheng HarYip;
M KamranIkram;
Yew-ChingTeh;
HuiCai;
WeiLu;
Lisa BSignorello;
QiuyinCai;
Dong-YoungNoh;
Keun-YoungYoo;
HuiMiao;
Philip Tsau-ChoongIau;
Yik YingTeo;
JamesMcKay;
CharlesShapiro;
FolusoAdemuyiwa;
GeorgeFountzilas;
Chia-NiHsiung;
Jyh-CherngYu;
Ming-FengHou;
Catherine SHealey;
CraigLuccarini;
SusanPeock;
DominiqueStoppa-Lyonnet;
PaoloPeterlongo;
Timothy RRebbeck;
MarionPiedmonte;
Christian FSinger;
EitanFriedman;
MadsThomassen;
KennethOffit;
Thomas VOHansen;
Susan LNeuhausen;
Csilla ISzabo;
IgnacioBlanco;
JudyGarber;
Steven ANarod;
Jeffrey NWeitzel;
MarcoMontagna;
EdithOlah;
Andrew KGodwin;
DrakoulisYannoukakos;
David EGoldgar;
TrinidadCaldes;
Evgeny NImyanitov;
LaimaTihomirova;
Banu KArun;
IanCampbell;
Arjen RMensenkamp;
Christi Jvan Asperen;
Kees EPvan Roozendaal;
HanneMeijers-Heijboer;
J MargrietCollée;
Jan COosterwijk;
Maartje JHooning;
Matti ARookus;
Rob Bvan der Luijt;
Theo A MvanOs;
D GarethEvans;
DebraFrost;
ElenaFineberg;
JulianBarwell;
LisaWalker;
M JohnKennedy;
RadkaPlatte;
RosemarieDavidson;
Steve DEllis;
TrevorCole;
BrigitteBressac-de Paillerets;
BrunoBuecher;
FrancescaDamiola;
LaurenceFaivre;
MarcFrenay;
Olga MSinilnikova;
OlivierCaron;
SophieGiraud;
SylvieMazoyer;
ValérieBonadona;
VirginieCaux-Moncoutier;
AleksandraToloczko-Grabarek;
JacekGronwald;
TomaszByrski;
Amanda BSpurdle;
BernardoBonanni;
DanielaZaffaroni;
GiuseppeGiannini;
LorisBernard;
RiccardoDolcetti;
SiranoushManoukian;
NorbertArnold;
ChristophEngel;
HelmutDeissler;
KerstinRhiem;
DieterNiederacher;
HansjoergPlendl;
ChristianSutter;
BarbaraWappenschmidt;
AkeBorg;
BeatriceMelin;
JohannaRantala;
MariaSoller;
Katherine LNathanson;
Susan MDomchek;
Gustavo CRodriguez;
RituSalani;
Daphne GschwantlerKaulich;
Muy-KhengTea;
Shani ShimonPaluch;
YaelLaitman;
Anne-BineSkytte;
Torben AKruse;
Uffe BirkJensen;
MarkRobson;
Anne-MarieGerdes;
BentEjlertsen;
LenkaForetova;
Sharon ASavage;
JennyLester;
PennySoucy;
Karoline BKuchenbaecker;
CurtisOlswold;
Julie MCunningham;
SusanSlager;
Vernon SPankratz;
EdDicks;
Sunil RLakhani;
Fergus JCouch;
PerHall;
Alvaro NAMonteiro;
Simon AGayther;
Paul DPPharoah;
Roger RReddel;
Ellen LGoode;
Mark HGreene;
Douglas FEaston;
AndrewBerchuck;
Antonis CAntoniou;
GeorgiaChenevix-Trench;
Alison MDunning;
(2013)
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.
Nature genetics, 45 (4).
371-384e2.
ISSN 1061-4036
DOI: 10.1038/ng.2566
TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ∼480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10(-7)), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10(-8)) and BRCA1 mutation carrier (P = 1.1 × 10(-5)) breast cancers and altered promoter assay signal. The minor allele at the peak 2 SNP rs7705526 associates with longer telomeres (P = 2.3 × 10(-14)), higher risk of low-malignant-potential ovarian cancer (P = 1.3 × 10(-15)) and greater promoter activity. The minor alleles at the peak 3 SNPs rs10069690 and rs2242652 increase ER-negative (P = 1.2 × 10(-12)) and BRCA1 mutation carrier (P = 1.6 × 10(-14)) breast and invasive ovarian (P = 1.3 × 10(-11)) cancer risks but not via altered telomere length. The cancer risk alleles of rs2242652 and rs10069690, respectively, increase silencing and generate a truncated TERT splice variant.
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- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3670748 (OA Location)
- 10.1038/ng.2566 (DOI)
- 23535731 (PubMed)