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@ARTICLE{Fachal:153048,
author = {L. Fachal and H. Aschard and J. Beesley and D. R. Barnes
and J. Allen and S. Kar and K. A. Pooley and J. Dennis and
K. Michailidou and C. Turman and P. Soucy and A. Lemaçon
and M. Lush and J. P. Tyrer and M. Ghoussaini and M. M.
Marjaneh and X. Jiang and S. Agata and K. Aittomäki and M.
R. Alonso and I. L. Andrulis and H. Anton-Culver and N. N.
Antonenkova and A. Arason and V. Arndt$^*$ and K. J. Aronson
and B. K. Arun and B. Auber and P. L. Auer and J. Azzollini
and J. Balmaña and R. B. Barkardottir and D. Barrowdale and
A. Beeghly-Fadiel and J. Benitez and M. Bermisheva and K.
Białkowska and A. M. Blanco and C. Blomqvist and W. Blot
and N. V. Bogdanova and S. E. Bojesen and M. K. Bolla and B.
Bonanni and A. Borg and K. Bosse and H. Brauch and H.
Brenner$^*$ and I. Briceno and I. W. Brock and A.
Brooks-Wilson and T. Brüning and B. Burwinkel$^*$ and S. S.
Buys and Q. Cai and T. Caldés and M. A. Caligo and N. J.
Camp and I. Campbell and F. Canzian$^*$ and J. S. Carroll
and B. D. Carter and J. E. Castelao and J. Chiquette and H.
Christiansen and W. K. Chung and K. B. M. Claes and C. L.
Clarke and J. M. Collée and S. Cornelissen and F. J. Couch
and A. Cox and S. S. Cross and C. Cybulski and K. Czene and
M. B. Daly and M. de la Hoya and P. Devilee and O. Diez and
Y. C. Ding and G. S. Dite and S. M. Domchek and T. Dörk and
I. Dos-Santos-Silva and A. Droit and S. Dubois and M. Dumont
and M. Duran and L. Durcan and M. Dwek and D. M. Eccles and
C. Engel and M. Eriksson and D. G. Evans and P. A. Fasching
and O. Fletcher and G. Floris and H. Flyger and L. Foretova
and W. D. Foulkes and E. Friedman and L. Fritschi and D.
Frost and M. Gabrielson and M. Gago-Dominguez and G. Gambino
and P. A. Ganz and S. M. Gapstur and J. Garber and J. A.
García-Sáenz and M. M. Gaudet and V. Georgoulias and G. G.
Giles and G. Glendon and A. K. Godwin and M. S. Goldberg and
D. E. Goldgar and A. González-Neira and M. G. Tibiletti and
M. H. Greene and M. Grip and J. Gronwald and A. Grundy and
P. Guénel and E. Hahnen and C. A. Haiman and N. Håkansson
and P. Hall and U. Hamann$^*$ and P. A. Harrington and J. M.
Hartikainen and M. Hartman and W. He and C. S. Healey and B.
A. M. Heemskerk-Gerritsen and J. Heyworth and P. Hillemanns
and F. B. L. Hogervorst and A. Hollestelle and M. J. Hooning
and J. L. Hopper and A. Howell and G. Huang and P. J. Hulick
and E. N. Imyanitov and C. Isaacs and M. Iwasaki and A.
Jager and M. Jakimovska and A. Jakubowska and P. A. James
and R. Janavicius and R. C. Jankowitz and E. M. John and N.
Johnson and M. E. Jones and A. Jukkola-Vuorinen and A.
Jung$^*$ and R. Kaaks$^*$ and D. Kang and P. M. Kapoor and
B. Y. Karlan and R. Keeman and M. J. Kerin and E.
Khusnutdinova and J. I. Kiiski and J. Kirk and C. M.
Kitahara and Y.-D. Ko and I. Konstantopoulou and V.-M. Kosma
and S. Koutros and K. Kubelka-Sabit and A. Kwong and K.
Kyriacou and Y. Laitman and D. Lambrechts and E. Lee and G.
Leslie and J. Lester and F. Lesueur and A. Lindblom and
W.-Y. Lo and J. Long and A. Lophatananon and J. T. Loud and
J. Lubiński and R. J. MacInnis and T. Maishman and E.
Makalic and A. Mannermaa and M. Manoochehri$^*$ and S.
Manoukian and S. Margolin and M. E. Martinez and K. Matsuo
and T. Maurer and D. Mavroudis and R. Mayes and L. McGuffog
and C. McLean and N. Mebirouk and A. Meindl and A. Miller
and N. Miller and M. Montagna and F. Moreno and K. Muir and
A. M. Mulligan and V. M. Muñoz-Garzon and T. A. Muranen and
S. A. Narod and R. Nassir and K. L. Nathanson and S. L.
Neuhausen and H. Nevanlinna and P. Neven and F. C. Nielsen
and L. Nikitina-Zake and A. Norman and K. Offit and E. Olah
and O. I. Olopade and H. Olsson and N. Orr and A. Osorio and
V. S. Pankratz and J. Papp and S. K. Park and T.-W.
Park-Simon and M. T. Parsons and J. Paul and I. S. Pedersen
and B. Peissel and B. Peshkin and P. Peterlongo and J. Peto
and D. Plaseska-Karanfilska and K. Prajzendanc and R.
Prentice and N. Presneau and D. Prokofyeva and M. A. Pujana
and K. Pylkäs and P. Radice and S. J. Ramus and J. Rantala
and R. Rau-Murthy and G. Rennert and H. A. Risch and M.
Robson and A. Romero and M. Rossing and E. Saloustros and E.
Sánchez-Herrero and D. P. Sandler and M. Santamariña and
C. Saunders and E. J. Sawyer and M. T. Scheuner and D. F.
Schmidt and R. K. Schmutzler and A. Schneeweiss and M. J.
Schoemaker and B. Schöttker$^*$ and P. Schürmann and C.
Scott and R. J. Scott and L. Senter and C. M. Seynaeve and
M. Shah and P. Sharma and C.-Y. Shen and X.-O. Shu and C. F.
Singer and T. P. Slavin and S. Smichkoska and M. C. Southey
and J. J. Spinelli and A. B. Spurdle and J. Stone and D.
Stoppa-Lyonnet and C. Sutter and A. J. Swerdlow and R. M.
Tamimi and Y. Y. Tan and W. J. Tapper and J. A. Taylor and
M. R. Teixeira and M. Tengström and S. H. Teo and M. B.
Terry and A. Teulé and M. Thomassen and D. L. Thull and M.
Tischkowitz and A. E. Toland and R. A. E. M. Tollenaar and
I. Tomlinson and D. Torres and G. Torres-Mejía and M. A.
Troester and T. Truong and N. Tung and M. Tzardi and H.-U.
Ulmer and C. M. Vachon and C. J. van Asperen and L. E. van
der Kolk and E. J. van Rensburg and A. Vega and A. Viel and
J. Vijai and M. J. Vogel and Q. Wang and B. Wappenschmidt
and C. R. Weinberg and J. N. Weitzel and C. Wendt and H.
Wildiers and R. Winqvist and A. Wolk and A. H. Wu and D.
Yannoukakos and Y. Zhang and W. Zheng and D. Hunter and P.
D. P. Pharoah and J. Chang-Claude$^*$ and M. García-Closas
and M. K. Schmidt and R. L. Milne and V. N. Kristensen and
J. D. French and S. L. Edwards and A. C. Antoniou and G.
Chenevix-Trench and J. Simard and D. F. Easton and P. Kraft
and A. M. Dunning and V. Mari and P. Berthet and L. Castera
and D. Vaur and H. Lallaoui and Y.-J. Bignon and N.
Uhrhammer and V. Bonadona and C. Lasset and F. Révillion
and P. Vennin and D. Muller and D. M. Gomes and O. Ingster
and I. Coupier and P. Pujol and M.-A. Collonge-Rame and I.
Mortemousque and O. Bera and M. Rose and A. Baurand and G.
Bertolone and L. Faivre and H. Dreyfus and D. Leroux and L.
Venat-Bouvet and S. Bézieau and C. Delnatte and J. Chiesa
and B. Gilbert-Dussardier and P. Gesta and F. P. Prieur and
M. Bronner and J. Sokolowska and F. Coulet and N.
Boutry-Kryza and A. Calender and S. Giraud and M. Leone and
S. Fert-Ferrer and D. Stoppa-Lyonnet and Y. Jiao and F. L.
Lesueur and N. Mebirouk and E. Barouk-Simonet and V. Bubien
and M. Longy and N. Sevenet and L. Gladieff and C. Toulas
and A. Reimineras and H. Sobol and B. B. Paillerets and O.
Cabaret and O. Caron and M. Guillaud-Bataille and E. Rouleau
and M. Belotti and B. Buecher and S. Caputo and C. Colas and
A. D. Pauw and E. Fourme and M. Gauthier-Villars and L.
Golmard and V. Moncoutier and C. Saule and A. Donaldson and
A. Murray and A. Brady and C. Brewer and C. Pottinger and C.
Miller and D. Gallagher and H. Gregory and J. Cook and J.
Eason and J. Adlard and J. Barwell and K.-R. Ong and K.
Snape and L. Walker and L. Izatt and L. Side and M.
Tischkowitz and M. T. Rogers and M. E. Porteous and M. Ahmed
and P. J. Morrison and P. Brennan and R. Eeles and R.
Davidson and A. Sexton and A. Christian and A. Trainer and
A. Spigelman and A. Fellows and A. Shelling and A. D. Fazio
and A. Blackburn and A. Crook and B. Meiser and B. Patterson
and C. Clarke and C. Saunders and C. Hunt and C. Scott and
D. Amor and D. Marsh and E. Edkins and E. Salisbury and E.
Haan and E. Neidermayr and F. Macrea and G. Farshid and G.
Lindeman and G. Trench and G. Mann and G. Giles and G. Gill
and H. Thorne and I. Campbell and I. Hickie and I. Winship
and J. Flanagan and J. Kollias and J. Visvader and J. Stone
and J. Taylor and J. Burke and J. Saunus and J. Forbes and
J. Hopper and J. Beesley and J. Kirk and J. French and K.
Tucker and K. Wu and K. Phillips and L. Lipton and L.
Andrews and L. Lobb and L. Walker and M. Kentwell and M.
Spurdle and M. Cummings and M. Gleeson and M. Harris and M.
Jenkins and M. A. Young and M. Delatycki and M. Wallis and
M. Burgess and M. Price and M. Brown and M. Southey and M.
Bogwitz and M. Field and M. Friedlander and M. Gattas and M.
Saleh and N. Hayward and N. Pachter and P. Cohen and P.
Duijf and P. James and P. Simpson and P. Fong and P. Butow
and R. Williams and R. Kefford and R. Scott and R. Milne and
R. Balleine and S.-J. Dawson and S. Lok and S. O'Connell and
S. Greening and S. Nightingale and S. Edwards and S. Fox and
S.-A. McLachlan and S. Lakhani and Y. Antill and C. Aalfs
and H. Meijers-Heijboer and K. van Engelen and H. Gille and
I. Boere and M. Collée and C. van Deurzen and M. Hooning
and I.-M. Obdeijn and A. van den Ouweland and C. Seynaeve
and S. Siesling and J. Verloop and C. van Asperen and P.
Devilee and T. van Cronenburg and R. Blok and M. de Boer and
E. G. Garcia and M. Adank and F. Hogervorst and D. Jenner
and F. van Leeuwen and M. Rookus and N. Russell and M.
Schmidt and S. van den Belt-Dusebout and C. Kets and A.
Mensenkamp and T. de Bock and A. van der Hout and M. Mourits
and J. Oosterwijk and M. Ausems and M. Koudijs and C. Clarke
and D. Marsh and R. Scott and R. Baxter and D. Yip and J.
Carpenter and A. Davis and N. Pathmanathan and P. Simpson
and D. Graham and M. Sachchithananthan},
collaboration = {GEMO Study Collaborators and EMBRACE Collaborators and K.
Investigators and H. Investigators and A. Investigators},
title = {{F}ine-mapping of 150 breast cancer risk regions identifies
191 likely target genes.},
journal = {Nature genetics},
volume = {52},
number = {1},
issn = {1546-1718},
address = {London},
publisher = {Macmillan Publishers Limited, part of Springer Nature},
reportid = {DKFZ-2020-00130},
pages = {56-73},
year = {2020},
note = {2020 Jan;52(1):56-73},
abstract = {Genome-wide association studies have identified breast
cancer risk variants in over 150 genomic regions, but the
mechanisms underlying risk remain largely unknown. These
regions were explored by combining association analysis with
in silico genomic feature annotations. We defined 205
independent risk-associated signals with the set of credible
causal variants in each one. In parallel, we used a Bayesian
approach (PAINTOR) that combines genetic association,
linkage disequilibrium and enriched genomic features to
determine variants with high posterior probabilities of
being causal. Potentially causal variants were significantly
over-represented in active gene regulatory regions and
transcription factor binding sites. We applied our INQUSIT
pipeline for prioritizing genes as targets of those
potentially causal variants, using gene expression
(expression quantitative trait loci), chromatin interaction
and functional annotations. Known cancer drivers,
transcription factors and genes in the developmental,
apoptosis, immune system and DNA integrity checkpoint gene
ontology pathways were over-represented among the
highest-confidence target genes.},
cin = {C071 / C070 / C120 / C080 / C055 / B072 / B070 / C020 /
HD01},
ddc = {570},
cid = {I:(DE-He78)C071-20160331 / I:(DE-He78)C070-20160331 /
I:(DE-He78)C120-20160331 / I:(DE-He78)C080-20160331 /
I:(DE-He78)C055-20160331 / I:(DE-He78)B072-20160331 /
I:(DE-He78)B070-20160331 / I:(DE-He78)C020-20160331 /
I:(DE-He78)HD01-20160331},
pnm = {319H - Addenda (POF3-319H)},
pid = {G:(DE-HGF)POF3-319H},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:31911677},
doi = {10.1038/s41588-019-0537-1},
url = {https://inrepo02.dkfz.de/record/153048},
}
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