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@ARTICLE{Coignard:167756,
author = {J. Coignard and M. Lush and J. Beesley and T. A. O'Mara and
J. Dennis and J. P. Tyrer and D. R. Barnes and L. McGuffog
and G. Leslie and M. K. Bolla and M. A. Adank and S. Agata
and T. Ahearn and K. Aittomäki and I. L. Andrulis and H.
Anton-Culver and V. Arndt$^*$ and N. Arnold and K. J.
Aronson and B. K. Arun and A. Augustinsson and J. Azzollini
and D. Barrowdale and C. Baynes and H. Becher and M.
Bermisheva and L. Bernstein and K. Białkowska and C.
Blomqvist and S. E. Bojesen and B. Bonanni and A. Borg and
H. Brauch and H. Brenner$^*$ and B. Burwinkel$^*$ and S. S.
Buys and T. Caldés and M. A. Caligo and D. Campa and B. D.
Carter and J. E. Castelao and J. Chang-Claude$^*$ and S. J.
Chanock and W. K. Chung and K. B. M. Claes and C. L. Clarke
and J. M. Collée and D. M. Conroy and K. Czene and M. B.
Daly and P. Devilee and O. Diez and Y. C. Ding and S. M.
Domchek and T. Dörk and I. Dos-Santos-Silva and A. M.
Dunning and M. Dwek and D. M. Eccles and A. H. Eliassen and
C. Engel and M. Eriksson and D. G. Evans and P. A. Fasching
and H. Flyger and F. Fostira and E. Friedman and L. Fritschi
and D. Frost and M. Gago-Dominguez and S. M. Gapstur and J.
Garber and V. Garcia-Barberan and M. García-Closas and J.
A. García-Sáenz and M. M. Gaudet and S. A. Gayther and A.
Gehrig and V. Georgoulias and G. G. Giles and A. K. Godwin
and M. S. Goldberg and D. E. Goldgar and A. González-Neira
and M. H. Greene and P. Guénel and L. Haeberle and E.
Hahnen and C. A. Haiman and N. Håkansson and P. Hall and U.
Hamann$^*$ and P. A. Harrington and S. N. Hart and W. He and
F. B. L. Hogervorst and A. Hollestelle and J. L. Hopper and
D. J. Horcasitas and P. J. Hulick and D. J. Hunter and E. N.
Imyanitov and A. Jager and A. Jakubowska and P. A. James and
U. B. Jensen and E. M. John and M. E. Jones and R. Kaaks and
P. M. Kapoor and B. Y. Karlan and R. Keeman and E.
Khusnutdinova and J. I. Kiiski and Y.-D. Ko and V.-M. Kosma
and P. Kraft and A. W. Kurian and Y. Laitman and D.
Lambrechts and L. Le Marchand and J. Lester and F. Lesueur
and T. Lindstrom and A. Lopez-Fernández and J. T. Loud and
C. Luccarini and A. Mannermaa and S. Manoukian and S.
Margolin and J. W. M. Martens and N. Mebirouk and A. Meindl
and A. Miller and R. L. Milne and M. Montagna and K. L.
Nathanson and S. L. Neuhausen and H. Nevanlinna and F. C.
Nielsen and K. M. O'Brien and O. I. Olopade and J. E. Olson
and H. Olsson and A. Osorio and L. Ottini and T.-W.
Park-Simon and M. T. Parsons and I. S. Pedersen and B.
Peshkin and P. Peterlongo and J. Peto and P. D. P. Pharoah
and K.-A. Phillips and E. C. Polley and B. Poppe and N.
Presneau and M. A. Pujana and K. Punie and P. Radice and J.
Rantala and M. U. Rashid and G. Rennert and H. S. Rennert
and M. Robson and A. Romero and M. Rossing and E. Saloustros
and D. P. Sandler and R. Santella and M. T. Scheuner and M.
K. Schmidt and G. Schmidt and C. Scott and P. Sharma and P.
Soucy and M. C. Southey and J. J. Spinelli and Z.
Steinsnyder and J. Stone and D. Stoppa-Lyonnet and A.
Swerdlow and R. M. Tamimi and W. J. Tapper and J. A. Taylor
and M. B. Terry and A. Teulé and D. L. Thull and M.
Tischkowitz and A. E. Toland and D. Torres and A. H. Trainer
and T. Truong and N. Tung and C. M. Vachon and A. Vega and
J. Vijai and Q. Wang and B. Wappenschmidt and C. R. Weinberg
and J. N. Weitzel and C. Wendt and A. Wolk and S. Yadav and
X. R. Yang and D. Yannoukakos and W. Zheng and A. Ziogas and
K. K. Zorn and S. K. Park and M. Thomassen and K. Offit and
R. K. Schmutzler and F. J. Couch and J. Simard and G.
Chenevix-Trench and D. F. Easton and N. Andrieu and A. C.
Antoniou and O. Bertrand and S. Caputo and A. Dupré and M.
Le Mentec and M. Belotti and A.-M. Birot and B. Buecher and
E. Fourme and M. Gauthier-Villars and L. Golmard and C.
Houdayer and V. Moncoutier and A. de Pauw and C. Saule and
O. Sinilnikova and S. Mazoyer and F. Damiola and L. Barjhoux
and C. Verny-Pierre and M. Léone and N. Boutry-Kryza and A.
Calender and S. Giraud and O. Caron and M. Guillaud-Bataille
and B. Bressac-de-Paillerets and Y. J. Bignon and N.
Uhrhammer and C. Lasset and V. Bonadona and P. Berthet and
D. Vaur and L. Castera and T. Noguchi and C. Popovici and H.
Sobol and V. Bourdon and T. Noguchi and A. Remenieras and C.
Noguès and I. Coupier and P. Pujol and A. Dumont and F.
Révillion and C. Adenis and D. Muller and E. Barouk-Simonet
and F. Bonnet and V. Bubien and N. Sevenet and M. Longy and
C. Toulas and R. Guimbaud and L. Gladieff and V. Feillel and
D. Leroux and H. Dreyfus and C. Rebischung and M. Peysselon
and F. Coron and L. Faivre and A. Baurand and C. Jacquot and
G. Bertolone and S. Lizard and F. Prieur and M. Lebrun and
C. Kientz and S. F. Ferrer and V. Mari and L. Vénat-Bouvet
and C. Delnatte and S. Bézieau and I. Mortemousque and F.
Coulet and C. Colas and F. Soubrier and M. Warcoin and J.
Sokolowska and M. Bronner and M.-A. Collonge-Rame and A.
Damette and P. Gesta and H. Lallaoui and J. Chiesa and D.
Molina-Gomes and O. Ingster and H. Gregory and Z.
Miedzybrodzka and P. J. Morrison and K.-R. Ong and A.
Donaldson and M. T. Rogers and M. J. Kennedy and M. E.
Porteous and C. Brewer and R. Davidson and L. Izatt and A.
Brady and J. Barwell and J. Adlard and C. Foo and F. Lalloo
and L. E. Side and J. Eason and A. Henderson and L. Walker
and R. A. Eeles and J. Cook and K. Snape and D. Eccles and
A. Murray and E. McCann and S. Fox and I. Campbell and A.
Spurdle and P. Webb and A. de Fazio and M. Tassell and J.
Kirk and G. Lindeman and M. Price and M. Southey and R.
Milne and S. Deb and D. Bowtell and A. H. van der Hout and
A. M. W. van den Ouweland and A. R. Mensenkamp and C. H. M.
van Deurzen and C. M. Kets and C. Seynaeve and C. J. van
Asperen and C. M. Aalfs and E. B. Gómez Garcia and F. E.
van Leeuwen and G. H. de Bock and H. E. J. Meijers-Heijboer
and I. M. Obdeijn and J. M. Collée and J. J. P. Gille and
J. C. Oosterwijk and J. T. Wijnen and L. E. van der Kolk and
M. J. Hooning and M. G. E. M. Ausems and M. J. E. Mourits
and M. J. Blok and M. A. Rookus and M. A. Adank and R. B.
van der Luijt and T. C. T. E. F. van Cronenburg and C. C.
van der Pol and N. S. Russell and S. Siesling and L.
Overbeek and R. Wijnands and J. L. de Lange and C. Clarke
and D. Graham and M. Sachchithananthan and D. Marsh and R.
Scott and R. Baxter and D. Yip and J. Carpenter and A. Davis
and N. Pathmanathan and P. Simpson},
collaboration = {GEMO Study Collaborators and EMBRACE Collaborators and K.
Investigators and H. Investigators and A. Investigators},
title = {{A} case-only study to identify genetic modifiers of breast
cancer risk for {BRCA}1/{BRCA}2 mutation carriers.},
journal = {Nature Communications},
volume = {12},
number = {1},
issn = {2041-1723},
address = {[London]},
publisher = {Nature Publishing Group UK},
reportid = {DKFZ-2021-00520},
pages = {1078},
year = {2021},
abstract = {Breast cancer (BC) risk for BRCA1 and BRCA2 mutation
carriers varies by genetic and familial factors. About 50
common variants have been shown to modify BC risk for
mutation carriers. All but three, were identified in general
population studies. Other mutation carrier-specific
susceptibility variants may exist but studies of mutation
carriers have so far been underpowered. We conduct a novel
case-only genome-wide association study comparing genotype
frequencies between 60,212 general population BC cases and
13,007 cases with BRCA1 or BRCA2 mutations. We identify
robust novel associations for 2 variants with BC for BRCA1
and 3 for BRCA2 mutation carriers, P < 10-8, at 5 loci,
which are not associated with risk in the general
population. They include rs60882887 at 11p11.2 where MADD,
SP11 and EIF1, genes previously implicated in BC biology,
are predicted as potential targets. These findings will
contribute towards customising BC polygenic risk scores for
BRCA1 and BRCA2 mutation carriers.},
keywords = {Adult / Alleles / BRCA1 Protein: genetics / BRCA2 Protein:
genetics / Breast Neoplasms: genetics / Female / Genetic
Predisposition to Disease: genetics / Genome-Wide
Association Study: methods / Genotype / Humans / Linkage
Disequilibrium / Middle Aged / Mutation / Polymorphism,
Single Nucleotide / Quantitative Trait Loci: genetics / Risk
Factors / BRCA1 Protein (NLM Chemicals) / BRCA1 protein,
human (NLM Chemicals) / BRCA2 Protein (NLM Chemicals) /
BRCA2 protein, human (NLM Chemicals)},
cin = {C071 / C070 / C120 / HD01 / C080 / C020 / B072 / B070},
ddc = {500},
cid = {I:(DE-He78)C071-20160331 / I:(DE-He78)C070-20160331 /
I:(DE-He78)C120-20160331 / I:(DE-He78)HD01-20160331 /
I:(DE-He78)C080-20160331 / I:(DE-He78)C020-20160331 /
I:(DE-He78)B072-20160331 / I:(DE-He78)B070-20160331},
pnm = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
pid = {G:(DE-HGF)POF4-313},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:33597508},
doi = {10.1038/s41467-020-20496-3},
url = {https://inrepo02.dkfz.de/record/167756},
}
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