Search: onr:"swepub:oai:lup.lub.lu.se:de205e2a-c0eb-4400-a4ac-d4c9a2c26b2d" >
Association of brea...
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Hamdi, YosrLaval University
(author)
Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3
- Article/chapterEnglish2017
Publisher, publication year, extent ...
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2016-10-28
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Springer Science and Business Media LLC,2017
Numbers
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LIBRIS-ID:oai:lup.lub.lu.se:de205e2a-c0eb-4400-a4ac-d4c9a2c26b2d
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https://lup.lub.lu.se/record/de205e2a-c0eb-4400-a4ac-d4c9a2c26b2dURI
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https://doi.org/10.1007/s10549-016-4018-2DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:135054892URI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
Notes
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Purpose: Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways. Methods: Using data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast and ovarian cancer risks in 15,252 BRCA1 and 8211 BRCA2 mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of BRCA1/2. Results: We identified a region on 11q22.3 that is significantly associated with breast cancer risk in BRCA1 mutation carriers (most significant SNP rs228595 p = 7 × 10−6). This association was absent in BRCA2 carriers (p = 0.57). The 11q22.3 region notably encompasses genes such as ACAT1, NPAT, and ATM. Expression quantitative trait loci associations were observed in both normal breast and tumors across this region, namely for ACAT1, ATM, and other genes. In silico analysis revealed some overlap between top risk-associated SNPs and relevant biological features in mammary cell data, which suggests potential functional significance. Conclusion: We identified 11q22.3 as a new modifier locus in BRCA1 carriers. Replication in larger studies using estrogen receptor (ER)-negative or triple-negative (i.e., ER-, progesterone receptor-, and HER2-negative) cases could therefore be helpful to confirm the association of this locus with breast cancer risk.
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Soucy, PennyLaval University
(author)
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Kuchenbaeker, Karoline B.Wellcome Trust Sanger Institute
(author)
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Pastinen, TomiMcGill University
(author)
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Droit, ArnaudLaval University
(author)
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Lemaçon, AudreyLaval University
(author)
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Adlard, JulianChapel Allerton Hospital
(author)
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Aittomäki, KristiinaHelsinki University Central Hospital
(author)
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Andrulis, Irene L.Karolinska Institutet
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Arason, AdalgeirUniversity of Iceland
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Arnold, NorbertUniversity of Kiel
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Arun, Banu K.University of Texas
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Azzollini, JacopoIstituto Nazionale dei Tumori
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Bane, AnitaMcMaster University
(author)
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Barjhoux, LaureCentre Léon Bérard
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Barrowdale, DanielUniversity of Cambridge
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Benitez, JavierSpanish National Cancer Research Center (CNIO)
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Berthet, PascalineCentre François Baclesse
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Blok, Marinus J.Yukioka Hospital
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Bobolis, KristieCity of Hope National Medical Center
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Bonadona, ValérieCentre Léon Bérard
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Bonanni, BernardoEuropean Institute of Oncology
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Bradbury, Angela R.Cochin Hospital
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Brewer, CaroleRoyal Devon & Exeter Hospital
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Buecher, BrunoCurie Institute, Paris
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Buys, Saundra S.Huntsman Cancer Institute
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Caligo, Maria A.University Hospital of Pisa
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Chiquette, JocelyneHôpital du Saint-Sacrement
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Chung, Wendy K.Columbia University
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Claes, Kathleen B MGhent University Hospital
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Daly, Mary B.Fox Chase Cancer Center
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Damiola, FrancescaCentre Léon Bérard
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Davidson, RosemarieUniversity of Glasgow
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de la Hoya, MiguelHospital Clinico San Carlos de Madrid
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de Leeneer, KimGhent University Hospital
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Diez, OrlandVall d'Hebron University Hospital
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Ding, Yuan ChunCity of Hope National Medical Center
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Dolcetti, RiccardoUniversity of Queensland
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Domchek, Susan M.Cochin Hospital
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Dorfling, Cecilia M.University of Pretoria
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Eccles, DianaUniversity Hospital Southampton
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Eeles, RosRoyal Marsden NHS Foundation Trust
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Einbeigi, ZakariaSahlgrenska University Hospital
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Ejlertsen, BentCopenhagen University Hospital
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Engel, ChristophLeipzig University
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Gareth Evans, D.University of Manchester,Manchester University NHS Foundation Trust
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Feliubadalo, LidiaCatalan Institute of Oncology
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Foretova, LenkaMasaryk Memorial Cancer Institute
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Fostira, FlorentiaNational Centre for Scientific Research Demokritos
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Foulkes, William D.McGill University
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Fountzilas, GeorgeAristotle University of Thessaloniki
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Friedman, EitanTel-Aviv University
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Frost, DebraUniversity of Cambridge
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Ganschow, PamelaCity of Hope National Medical Center
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Ganz, Patricia A.Jonsson Comprehensive Cancer Center
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Garber, JudyDana-Farber Cancer Institute
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Gayther, Simon A.University of Southern California
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Gemo Study Collaborators, Study CollaboratorsParis Descartes University
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Gerdes, Anne MarieCopenhagen University Hospital
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Glendon, GordMount Sinai Hospital of University of Toronto
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Godwin, Andrew K.University of Kansas Medical Center
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Goldgar, David E.University of Utah
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Greene, Mark H.National Cancer Institute, USA
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Gronwald, JacekPomeranian Medical University
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Hahnen, EricUniversity Hospital of Cologne
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Hamann, UteGerman Cancer Research Centre
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Hansen, Thomas V OCopenhagen University Hospital
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Hart, StevenMayo Clinic Minnesota
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Hays, John L.
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Hogervorst, Frans B LNetherlands Cancer Institute
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Hulick, Peter J.NorthShore University HealthSystem
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Imyanitov, Evgeny N.N. N. Petrov Institute of Oncology
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Isaacs, ClaudineLombardi Comprehensive Cancer Center
(author)
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Izatt, LouiseGuy's and St Thomas' NHS Foundation Trust
(author)
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Jakubowska, AnnaPomeranian Medical University
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James, PaulUniversity of Melbourne
(author)
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Janavicius, RamunasState Research Institute Centre for Innovative Medicine
(author)
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Jensen, Uffe BirkAarhus University Hospital
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John, Esther M.Stanford University
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Joseph, VijaiMemorial Sloan-Kettering Cancer Center
(author)
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Just, WalterUniversity of Ulm
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Kaczmarek, KatarzynaPomeranian Medical University
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Karlan, Beth Y.Cedars-Sinai Medical Center
(author)
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Kconfab Investigators, InvestigatorsPeter MacCallum Cancer Centre
(author)
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Kets, Carolien M.Radboud University Nijmegen
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Kirk, JudyWestmead Hospital
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Kriege, MiekeErasmus University Medical Center
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Laitman, YaelSheba Medical Center
(author)
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Laurent, MaïtéCurie Institute, Paris
(author)
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Lazaro, ConxiCatalan Institute of Oncology
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Leslie, GoskaUniversity of Cambridge
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Lester, JennyCedars-Sinai Medical Center
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Lesueur, FabiennePSL University
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Liljegren, AnnelieKarolinska University Hospital
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Loman, NiklasLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital(Swepub:lu)onk-nlo
(author)
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Loud, Jennifer T.National Cancer Institute, USA
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Manoukian, SiranoushIstituto Nazionale dei Tumori
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Mariani, MilenaIstituto Nazionale dei Tumori
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Mazoyer, SylvieCentre de Recherche en Cancérologie de Lyon
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McGuffog, LesleyUniversity of Cambridge
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Meijers-Heijboer, Hanne E JAmsterdam UMC - Vrije Universiteit Amsterdam
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Meindl, AlfonsUniversity of Kiel
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Miller, AustinRoswell Park Cancer Institute
(author)
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Montagna, MarcoVeneto Institute of Oncology
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Mulligan, Anna MarieSaint Michael's Hospital
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Nathanson, Katherine L.Cochin Hospital
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Neuhausen, Susan L.City of Hope National Medical Center
(author)
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Nevanlinna, HeliHelsinki University Central Hospital
(author)
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Nussbaum, Robert L.University of Texas Health Science Centre
(author)
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Olah, EdithNational Institute of Oncology, Budapest
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Olopade, Olufunmilayo I.University of Chicago
(author)
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Ong, Kai renBirmingham Women’s Hospital Healthcare NHS Trust
(author)
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Oosterwijk, Jan C.University of Groningen
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Osorio, AnaBiomedical Network on Rare Diseases (CIBERER)
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Papi, LauraUniversity of Florence
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Park, Sue KyungSeoul National University
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Pedersen, Inge SokildeAalborg University Hospital
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Peissel, BernardIstituto Nazionale dei Tumori
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Segura, Pedro PerezHospital Clinico San Carlos de Madrid
(author)
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Peterlongo, PaoloIFOM - The FIRC Institute of Molecular Oncology
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Phelan, Catherine M.H. Lee Moffitt Cancer Center & Research Institute
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Radice, PaoloIstituto Nazionale dei Tumori
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Rantala, JohannaKarolinska Institutet
(author)
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Rappaport-Fuerhauser, ChristineMedical University of Vienna
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Rennert, GadCarmel Medical Center
(author)
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Richardson, AndreaJohns Hopkins University School of Medicine
(author)
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Robson, MarkMemorial Sloan-Kettering Cancer Center
(author)
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Rodriguez, Gustavo C.NorthShore University HealthSystem
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Rookus, Matti A.Netherlands Cancer Institute
(author)
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Schmutzler, Rita KatharinaUniversity Hospital of Cologne
(author)
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Sevenet, NicolasInstitut Bergoníe
(author)
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Shah, Payal D.Cochin Hospital
(author)
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Singer, Christian F.Medical University of Vienna
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Slavin, Thomas P.City of Hope National Medical Center
(author)
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Snape, KatieUniversity of London
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Sokolowska, JohannaUniversity Hospital of Nancy
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Sønderstrup, Ida Marie HeeholmSlagelse Hospital
(author)
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Southey, MelissaUniversity of Melbourne
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Spurdle, Amanda B.QIMR Berghofer Medical Research Institute
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Stadler, ZsofiaMemorial Sloan-Kettering Cancer Center
(author)
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Stoppa-Lyonnet, DominiqueCurie Institute, Paris
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Sukiennicki, GrzegorzPomeranian Medical University
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Sutter, ChristianUniversity Hospital Heidelberg
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Tan, YenMedical University of Vienna
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Tea, Muy KhengMedical University of Vienna
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Teixeira, Manuel R.University of Porto
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Teulé, AlexCatalan Institute of Oncology
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Teo, Soo HwangUniversity of Malaya
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Terry, Mary BethColumbia University
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Thomassen, MadsOdense University Hospital
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Tihomirova, LaimaLatvian Biomedical Research and Study Centre
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Tischkowitz, MarcAddenbrooke's Hospital
(author)
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Tognazzo, SilviaVeneto Institute of Oncology
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Toland, Amanda EwartOhio State University
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Tung, NadineBeth Israel Deaconess Medical Center
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van Den Ouweland, Ans M WErasmus University Medical Center
(author)
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van der Luijt, Rob B.University Medical Center Utrecht
(author)
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van Engelen, KlaartjeAcademic Medical Center of University of Amsterdam (AMC)
(author)
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van Rensburg, Elizabeth J.University of Pretoria
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Varon-Mateeva, RaymondaCharité - University Medicine Berlin
(author)
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Wappenschmidt, BarbaraUniversity Hospital of Cologne
(author)
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Wijnen, Juul T.Leiden University Medical Centre
(author)
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Rebbeck, TimothyUniversity of Pennsylvania
(author)
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Chenevix-Trench, GeorgiaQIMR Berghofer Medical Research Institute
(author)
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Offit, KennethMemorial Sloan-Kettering Cancer Center
(author)
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Couch, Fergus J.Mayo Clinic Minnesota
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Nord, SiljeOslo university hospital
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Easton, Douglas F.University of Cambridge
(author)
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Antoniou, Antonis C.University of Cambridge
(author)
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Simard, JacquesLaval University
(author)
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Laval UniversityWellcome Trust Sanger Institute
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In:Breast Cancer Research and Treatment: Springer Science and Business Media LLC161:1, s. 117-1340167-68061573-7217
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