Evidence map›Paper›PMID 23535731›Full record

ArticleNature genetics2013

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.

Stig E Bojesen, Karen A Pooley, Sharon E Johnatty, Jonathan Beesley, Kyriaki Michailidou, Jonathan P Tyrer, Stacey L Edwards, Hilda A Pickett, Howard C Shen, Chanel E Smart and 435 more

Registry-linked trialOpen access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00040222 (Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer), which is not on this map. Cited by 359 papers, 8 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
359citing papers in PubMed, 8 pooled it
42.3field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT00040222 completednot on this map

Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer

TypeobservationalSponsorNational Cancer Institute (NCI)Ran2002Enrolled377ConditionsFamilial Ovarian Cancer, Familial Breast Cancer, BRCA1-associate Malignancies, BRCA2-associated Malignancies
3 · Its place in the literature

Who cites it

359 citing papers in PubMed, 8 syntheses or guidelines pooled it, 537 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. TERT rs10069690 polymorphism and cancers risk: A meta-analysis.Molecular genetics & genomic medicine · 2019
    Pooled it
  5. Pooled it
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  9. Trial
  10. Article
  11. Germline polygenic score for prostate cancer aggressiveness.medRxiv : the preprint server for health sciences · 2026
    Article
  12. Review
  13. Article
  14. Article
  15. Article
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299 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

445 authors at 20 institutions in 31 countries.

Stig E BojesenCopenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmark. stig.egil.bojesen@regionh.dk
Karen A Pooley
Sharon E Johnatty
Jonathan Beesley
Kyriaki Michailidou
Jonathan P Tyrer
Stacey L Edwards
Hilda A Pickett
Howard C Shen
Chanel E Smart
Kristine M Hillman
Phuong L Mai
Kate Lawrenson
Michael D Stutz
Yi Lu
Rod Karevan
Nicholas Woods
Rebecca L Johnston
Juliet D French
Xiaoqing Chen
Maren Weischer
Sune F Nielsen
Melanie J Maranian
Maya Ghoussaini
Shahana Ahmed
Caroline Baynes
Manjeet K Bolla
Qin Wang
Joe Dennis
Lesley McGuffog
Daniel Barrowdale
Andrew Lee
Sue Healey
Michael Lush
Daniel C Tessier
Daniel Vincent
Françis Bacot
Australian Cancer Study
Australian Ovarian Cancer Study
Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab)
Gene Environment Interaction and Breast Cancer (GENICA)
Swedish Breast Cancer Study (SWE-BRCA)
Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON)
Epidemiological study of BRCA1 & BRCA2 Mutation Carriers (EMBRACE)
Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO)
Ignace Vergote
Sandrina Lambrechts
Evelyn Despierre
Harvey A Risch
Anna González-Neira
Mary Anne Rossing
Guillermo Pita
Jennifer A Doherty
Nuria Alvarez
Melissa C Larson
Brooke L Fridley
Nils Schoof
Jenny Chang-Claude
Mine S Cicek
Julian Peto
Kimberly R Kalli
Annegien Broeks
Sebastian M Armasu
Marjanka K Schmidt
Linde M Braaf
Boris Winterhoff
Heli Nevanlinna
Gottfried E Konecny
Diether Lambrechts
Lisa Rogmann
Pascal Guénel
Attila Teoman
Roger L Milne
Joaquin J Garcia
Angela Cox
Vijayalakshmi Shridhar
Barbara Burwinkel
Frederik Marme
Rebecca Hein
Elinor J Sawyer
Christopher A Haiman
Shan Wang-Gohrke
Irene L Andrulis
Kirsten B Moysich
John L Hopper
Kunle Odunsi
Annika Lindblom
Graham G Giles
Hermann Brenner
Jacques Simard
Galina Lurie
Peter A Fasching
Michael E Carney
Paolo Radice
Lynne R Wilkens
Anthony Swerdlow
Marc T Goodman
Hiltrud Brauch
Montserrat Garcia-Closas
Peter Hillemanns
Robert Winqvist
Matthias Dürst
Peter Devilee
Ingo Runnebaum
Anna Jakubowska
Jan Lubinski
Arto Mannermaa
Ralf Butzow
Natalia V Bogdanova
Thilo Dörk
Liisa M Pelttari
Wei Zheng
Arto Leminen
Hoda Anton-Culver
Clareann H Bunker
Vessela Kristensen
Roberta B Ness
Kenneth Muir
Robert Edwards
Alfons Meindl
Florian Heitz
Keitaro Matsuo
Andreas du Bois
Anna H Wu
Philipp Harter
Soo-Hwang Teo
Ira Schwaab
Xiao-Ou Shu
William Blot
Satoyo Hosono
Daehee Kang
Toru Nakanishi
Mikael Hartman
Yasushi Yatabe
Ute Hamann
Beth Y Karlan
Suleeporn Sangrajrang
Susanne Krüger Kjaer
Valerie Gaborieau
Allan Jensen
Diana Eccles
Estrid Høgdall
Chen-Yang Shen
Judith Brown
Yin Ling Woo
Mitul Shah
Mat Adenan Noor Azmi
Robert Luben
Siti Zawiah Omar
Kamila Czene
Robert A Vierkant
Børge G Nordestgaard
Henrik Flyger
Celine Vachon
Janet E Olson
Xianshu Wang
Douglas A Levine
Anja Rudolph
Rachel Palmieri Weber
Dieter Flesch-Janys
Edwin Iversen
Stefan Nickels
Joellen M Schildkraut
Isabel Dos Santos Silva
Daniel W Cramer
Lorna Gibson
Kathryn L Terry
Olivia Fletcher
Allison F Vitonis
C Ellen van der Schoot
Elizabeth M Poole
Frans B L Hogervorst
Shelley S Tworoger
Jianjun Liu
Elisa V Bandera
Jingmei Li
Sara H Olson
Keith Humphreys
Irene Orlow
Carl Blomqvist
Lorna Rodriguez-Rodriguez
Kristiina Aittomäki
Helga B Salvesen
Taru A Muranen
Elisabeth Wik
Barbara Brouwers
Camilla Krakstad
Els Wauters
Mari K Halle
Hans Wildiers
Lambertus A Kiemeney
Claire Mulot
Katja K Aben
Pierre Laurent-Puig
Anne Mvan Altena
Thérèse Truong
Leon F A G Massuger
Javier Benitez
Tanja Pejovic
Jose Ignacio Arias Perez
Maureen Hoatlin
M Pilar Zamora
Linda S Cook
Sabapathy P Balasubramanian
Linda E Kelemen
Andreas Schneeweiss
Nhu D Le
Christof Sohn
Angela Brooks-Wilson
Ian Tomlinson
Michael J Kerin
Nicola Miller
Cezary Cybulski
Brian E Henderson
Janusz Menkiszak
Fredrick Schumacher
Nicolas Wentzensen
Loic Le Marchand
Hannah P Yang
Anna Marie Mulligan
Gord Glendon
Svend Aage Engelholm
Julia A Knight
Claus K Høgdall
Carmel Apicella
Martin Gore
Helen Tsimiklis
Honglin Song
Melissa C Southey
Agnes Jager
Ans M Wvan den Ouweland
Robert Brown
John W M Martens
James M Flanagan
Mieke Kriege
James Paul
Sara Margolin
Nadeem Siddiqui
Gianluca Severi
Alice S Whittemore
Laura Baglietto
Valerie McGuire
Christa Stegmaier
Weiva Sieh
Heiko Müller
Volker Arndt
France Labrèche
Yu-Tang Gao
Mark S Goldberg
Gong Yang
Martine Dumont
John R McLaughlin
Arndt Hartmann
Arif B Ekici
Matthias W Beckmann
Catherine M Phelan
Michael P Lux
Jenny Permuth-Wey
Bernard Peissel
Thomas A Sellers
Filomena Ficarazzi
Monica Barile
Argyrios Ziogas
Alan Ashworth
Aleksandra Gentry-Maharaj
Michael Jones
Susan J Ramus
Nick Orr
Usha Menon
Celeste L Pearce
Thomas Brüning
Malcolm C Pike
Yon-Dschun Ko
Jolanta Lissowska
Jonine Figueroa
Jolanta Kupryjanczyk
Stephen J Chanock
Agnieszka Dansonka-Mieszkowska
Arja Jukkola-Vuorinen
Iwona K Rzepecka
Katri Pylkäs
Mariusz Bidzinski
Saila Kauppila
Antoinette Hollestelle
Caroline Seynaeve
Rob A E M Tollenaar
Katarzyna Durda
Katarzyna Jaworska
Jaana M Hartikainen
Veli-Matti Kosma
Vesa Kataja
Natalia N Antonenkova
Jirong Long
Martha Shrubsole
Sandra Deming-Halverson
Artitaya Lophatananon
Pornthep Siriwanarangsan
Sarah Stewart-Brown
Nina Ditsch
Peter Lichtner
Rita K Schmutzler
Hidemi Ito
Hiroji Iwata
Kazuo Tajima
Chiu-Chen Tseng
Daniel O Stram
David van den Berg
Cheng Har Yip
M Kamran Ikram
Yew-Ching Teh
Hui Cai
Wei Lu
Lisa B Signorello
Qiuyin Cai
Dong-Young Noh
Keun-Young Yoo
Hui Miao
Philip Tsau-Choong Iau
Yik Ying Teo
James McKay
Charles Shapiro
Foluso Ademuyiwa
George Fountzilas
Chia-Ni Hsiung
Jyh-Cherng Yu
Ming-Feng Hou
Catherine S Healey
Craig Luccarini
Susan Peock
Dominique Stoppa-Lyonnet
Paolo Peterlongo
Timothy R Rebbeck
Marion Piedmonte
Christian F Singer
Eitan Friedman
Mads Thomassen
Kenneth Offit
Thomas V O Hansen
Susan L Neuhausen
Csilla I Szabo
Ignacio Blanco
Judy Garber
Steven A Narod
Jeffrey N Weitzel
Marco Montagna
Edith Olah
Andrew K Godwin
Drakoulis Yannoukakos
David E Goldgar
Trinidad Caldes
Evgeny N Imyanitov
Laima Tihomirova
Banu K Arun
Ian Campbell
Arjen R Mensenkamp
Christi J van Asperen
Kees E P van Roozendaal
Hanne Meijers-Heijboer
J Margriet Collée
Jan C Oosterwijk
Maartje J Hooning
Matti A Rookus
Rob B van der Luijt
Theo A Mvan Os
D Gareth Evans
Debra Frost
Elena Fineberg
Julian Barwell
Lisa Walker
M John Kennedy
Radka Platte
Rosemarie Davidson
Steve D Ellis
Trevor Cole
Brigitte Bressac-de Paillerets
Bruno Buecher
Francesca Damiola
Laurence Faivre
Marc Frenay
Olga M Sinilnikova
Olivier Caron
Sophie Giraud
Sylvie Mazoyer
Valérie Bonadona
Virginie Caux-Moncoutier
Aleksandra Toloczko-Grabarek
Jacek Gronwald
Tomasz Byrski
Amanda B Spurdle
Bernardo Bonanni
Daniela Zaffaroni
Giuseppe Giannini
Loris Bernard
Riccardo Dolcetti
Siranoush Manoukian
Norbert Arnold
Christoph Engel
Helmut Deissler
Kerstin Rhiem
Dieter Niederacher
Hansjoerg Plendl
Christian Sutter
Barbara Wappenschmidt
Ake Borg
Beatrice Melin
Johanna Rantala
Maria Soller
Katherine L Nathanson
Susan M Domchek
Gustavo C Rodriguez
Ritu Salani
Daphne Gschwantler Kaulich
Muy-Kheng Tea
Shani Shimon Paluch
Yael Laitman
Anne-Bine Skytte
Torben A Kruse
Uffe Birk Jensen
Mark Robson
Anne-Marie Gerdes
Bent Ejlertsen
Lenka Foretova
Sharon A Savage
Jenny Lester
Penny Soucy
Karoline B Kuchenbaecker
Curtis Olswold
Julie M Cunningham
Susan Slager
Vernon S Pankratz
Ed Dicks
Sunil R Lakhani
Fergus J Couch
Per Hall
Alvaro N A Monteiro
Simon A Gayther
Paul D P Pharoah
Roger R Reddel
Ellen L Goode
Mark H Greene
Douglas F Easton
Andrew Berchuck
Antonis C Antoniou
Georgia Chenevix-Trench
Alison M Dunning
University of Cambridge · GBUniversity of Southern California · USMayo Clinic in Florida · USErasmus MC · NLHeidelberg University · DEMayo Clinic · USPomeranian Medical University · PLVanderbilt University · USAichi Cancer Center · JPKarolinska Institutet · SEQIMR Berghofer Medical Research Institute · AUUniversity of Helsinki · FIInstitute of Cancer Research · GBKU Leuven · BEMemorial Sloan Kettering Cancer Center · USGerman Cancer Research Center · DEMoffitt Cancer Center · USSpanish National Cancer Research Centre · ESThe Maria Sklodowska-Curie National Research Institute of Oncology · PLThe Netherlands Cancer Institute · NL

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
UNIVERSITY OF PENNSYLVANIA CAN CTR SUPPORT GRANTP30CA016520 · NCI · UNIVERSITY OF PENNSYLVANIA · PI SHELLEY L BERGER · 1985 to 2026
$222.3M
Clinical Genetic Studies of Familial and Hereditary Cancer SyndromesZIACP010144 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI SAVAGE, SHARON A. · 2009 to 2025
$111.8M
Hormone-Related CancersZIACP010126 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI GIERACH, GRETCHEN · 2009 to 2025
$103.5M
TRANSCRIPTIONAL PROFILINGP30CA072720 · NCI · UNIV OF MED/DENT NJ-R W JOHNSON MED SCH · PI Chang S Chan · 1997 to 2026
$94.5M
TRANSLATIONAL RESEARCHP30CA076292 · NCI · UNIVERSITY OF SOUTH FLORIDA · PI KENNETH Lynn WRIGHT · 1998 to 2026
$93.5M
Laboratory of Translational GenomicsZIACP010201 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI PROKUNINA-OLSSON, LIUDMILA · 2010 to 2025
$91.2M
Southern Community Cohort StudyR01CA092447 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BLOT, WILLIAM J., ZHENG, WEI · 2001 to 2015
$74.0M
University of Hawaii Cancer Center CCSGP30CA071789 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI Xin Chen · 1996 to 2026
$56.2M
The Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI PETER C LUCAS · 2005 to 2026
$49.9M
Use of microfluidic tumor cultures to enable clinical trials of therapies for ovarian cancerP50CA136393 · NCI · MAYO CLINIC ROCHESTER · PI Zhenkun Lou · 2009 to 2026
$37.0M
Ovarian cancer GWAS discovery, expansion and replication (N2 - Project #1)U19CA148112 · NCI · H. LEE MOFFITT CANCER CTR & RES INST · PI SELLERS, THOMAS A · 2010 to 2014
$10.2M
Breast Cancer Now BREAST CANCER NOW RESEARCH CENTRECancer Research UK 10118Cancer Research UK 10124Cancer Research UK 11022Cancer Research UK 11174Cancer Research UK 13086Cancer Research UK 15960Cancer Research UK 16561Cancer Research UK 16565Cancer Research UK C12292/A11174Cancer Research UK C1287/A10118Cancer Research UK C1287/A10710Cancer Research UK C1287/A12014Cancer Research UK C1287/A9540CIHRNCI NIH HHS CA116201NCI NIH HHS CA128978NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA016520NCI NIH HHS P30 CA071789NCI NIH HHS P30 CA072720NCI NIH HHS P30 CA076292NCI NIH HHS P50 CA116201NCI NIH HHS P50 CA136393NCI NIH HHS R01 CA083918NCI NIH HHS R01 CA087538NCI NIH HHS R01 CA092447NCI NIH HHS R01 CA112523NCI NIH HHS R01 CA122443NCI NIH HHS R01 CA128978NCI NIH HHS R01 CA149429NCI NIH HHS R37 CA070867NCI NIH HHS RC4 CA153828NCI NIH HHS U19 CA148112Wellcome Trust 076113Wellcome Trust 090532
6 · The paper itself

Abstract

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.

Indexed as

Alternative SplicingBiomarkers, TumorBreast NeoplasmsCase-Control StudiesChromatinDNA MethylationFemaleGene Expression ProfilingGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansLuciferasesOligonucleotide Array Sequence AnalysisOvarian NeoplasmsBiomarkers, TumorChromatinLuciferasesRNA, MessengerTelomeraseTERT protein, human

Identifiers

PMID23535731
PMCPMC3670748
OpenAlexW2133857310

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.