% IMPORTANT: The following is UTF-8 encoded. This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.
@ARTICLE{Mavaddat:142242,
author = {N. Mavaddat and K. Michailidou and J. Dennis and M. Lush
and L. Fachal and A. Lee and J. P. Tyrer and T.-H. Chen and
Q. Wang and M. K. Bolla and X. Yang and M. A. Adank and T.
Ahearn and K. Aittomäki and J. Allen and I. L. Andrulis and
H. Anton-Culver and N. N. Antonenkova and V. Arndt$^*$ and
K. J. Aronson and P. L. Auer and P. Auvinen and M.
Barrdahl$^*$ and L. E. Beane Freeman and M. W. Beckmann and
S. Behrens$^*$ and J. Benitez and M. Bermisheva and L.
Bernstein and C. Blomqvist and N. V. Bogdanova and S. E.
Bojesen and B. Bonanni and A.-L. Børresen-Dale and H.
Brauch$^*$ and M. Bremer and H. Brenner$^*$ and A. Brentnall
and I. W. Brock and A. Brooks-Wilson and S. Y. Brucker and
T. Brüning and B. Burwinkel$^*$ and D. Campa$^*$ and B. D.
Carter and J. E. Castelao and S. J. Chanock and R.
Chlebowski and H. Christiansen and C. L. Clarke and J. M.
Collée and E. Cordina-Duverger and S. Cornelissen and F. J.
Couch and A. Cox and S. S. Cross and K. Czene and M. B. Daly
and P. Devilee and T. Dörk and I. Dos-Santos-Silva and M.
Dumont and L. Durcan and M. Dwek and D. M. Eccles and A. B.
Ekici and A. H. Eliassen and C. Ellberg and C. Engel and M.
Eriksson and D. G. Evans and P. A. Fasching and J. Figueroa
and O. Fletcher and H. Flyger and A. Försti$^*$ and L.
Fritschi and M. Gabrielson and M. Gago-Dominguez and S. M.
Gapstur and J. A. García-Sáenz and M. M. Gaudet and V.
Georgoulias and G. G. Giles and I. R. Gilyazova and G.
Glendon and M. S. Goldberg and D. E. Goldgar and A.
González-Neira and G. I. Grenaker Alnæs and M. Grip and J.
Gronwald and A. Grundy and P. Guénel and L. Haeberle and E.
Hahnen and C. A. Haiman and N. Håkansson and U. Hamann$^*$
and S. E. Hankinson and E. F. Harkness and S. N. Hart and W.
He and A. Hein and J. Heyworth and P. Hillemanns and A.
Hollestelle and M. J. Hooning and R. N. Hoover and J. L.
Hopper and A. Howell and G. Huang$^*$ and K. Humphreys and
D. J. Hunter and M. Jakimovska and A. Jakubowska and W.
Janni and E. M. John and N. Johnson and M. E. Jones and A.
Jukkola-Vuorinen and A. Jung$^*$ and R. Kaaks$^*$ and K.
Kaczmarek and V. Kataja and R. Keeman and M. J. Kerin and E.
Khusnutdinova and J. I. Kiiski and J. A. Knight and Y.-D. Ko
and V.-M. Kosma and S. Koutros and V. N. Kristensen and U.
Krüger and T. Kühl and D. Lambrechts and L. Le Marchand
and E. Lee and F. Lejbkowicz and J. Lilyquist and A.
Lindblom and S. Lindström and J. Lissowska and W.-Y. Lo and
S. Loibl and J. Long and J. Lubiński and M. P. Lux and R.
J. MacInnis and T. Maishman and E. Makalic and I. Maleva
Kostovska and A. Mannermaa and S. Manoukian and S. Margolin
and J. W. M. Martens and M. E. Martinez and D. Mavroudis and
C. McLean and A. Meindl and U. Menon and P. Middha$^*$ and
N. Miller and F. Moreno and A. M. Mulligan and C. Mulot and
V. M. Muñoz-Garzon and S. L. Neuhausen and H. Nevanlinna
and P. Neven and W. G. Newman and S. F. Nielsen and B. G.
Nordestgaard and A. Norman and K. Offit and J. E. Olson and
H. Olsson and N. Orr and V. S. Pankratz and T.-W. Park-Simon
and J. I. A. Perez and C. Pérez-Barrios and P. Peterlongo
and J. Peto and M. Pinchev and D. Plaseska-Karanfilska and
E. C. Polley and R. Prentice and N. Presneau and D.
Prokofyeva and K. Purrington and K. Pylkäs and B. Rack and
P. Radice and R. Rau-Murthy and G. Rennert and H. S. Rennert
and V. Rhenius and M. Robson and A. Romero and K. J. Ruddy
and M. Ruebner and E. Saloustros and D. P. Sandler and E. J.
Sawyer and D. F. Schmidt and R. K. Schmutzler and A.
Schneeweiss$^*$ and M. J. Schoemaker and F. Schumacher and
P. Schürmann and L. Schwentner and C. Scott and R. J. Scott
and C. Seynaeve and M. Shah and M. E. Sherman and M. J.
Shrubsole and X.-O. Shu and S. Slager and A. Smeets and C.
Sohn and P. Soucy and M. C. Southey and J. J. Spinelli and
C. Stegmaier and J. Stone and A. J. Swerdlow and R. M.
Tamimi and W. J. Tapper and J. A. Taylor and M. B. Terry and
K. Thöne and R. A. E. M. Tollenaar and I. Tomlinson and T.
Truong and M. Tzardi and H.-U. Ulmer and M. Untch and C. M.
Vachon and E. M. van Veen and J. Vijai and C. R. Weinberg
and C. Wendt and A. S. Whittemore and H. Wildiers and W.
Willett and R. Winqvist and A. Wolk and X. R. Yang and D.
Yannoukakos and Y. Zhang$^*$ and W. Zheng and A. Ziogas and
A. M. Dunning and D. J. Thompson and G. Chenevix-Trench and
J. Chang-Claude$^*$ and M. K. Schmidt and P. Hall and R. L.
Milne and P. D. P. Pharoah and A. C. Antoniou and N.
Chatterjee and P. Kraft and M. García-Closas and J. Simard
and D. F. Easton},
collaboration = {A. Investigators and k. Investigators and {NBCS
Collaborators}},
title = {{P}olygenic {R}isk {S}cores for {P}rediction of {B}reast
{C}ancer and {B}reast {C}ancer {S}ubtypes.},
journal = {The American journal of human genetics},
volume = {104},
number = {1},
issn = {0002-9297},
address = {New York, NY},
publisher = {Elsevier},
reportid = {DKFZ-2019-00045},
pages = {21 - 34},
year = {2019},
abstract = {Stratification of women according to their risk of breast
cancer based on polygenic risk scores (PRSs) could improve
screening and prevention strategies. Our aim was to develop
PRSs, optimized for prediction of estrogen receptor
(ER)-specific disease, from the largest available
genome-wide association dataset and to empirically validate
the PRSs in prospective studies. The development dataset
comprised 94,075 case subjects and 75,017 control subjects
of European ancestry from 69 studies, divided into training
and validation sets. Samples were genotyped using
genome-wide arrays, and single-nucleotide polymorphisms
(SNPs) were selected by stepwise regression or lasso
penalized regression. The best performing PRSs were
validated in an independent test set comprising 11,428 case
subjects and 18,323 control subjects from 10 prospective
studies and 190,040 women from UK Biobank (3,215 incident
breast cancers). For the best PRSs (313 SNPs), the odds
ratio for overall disease per 1 standard deviation in ten
prospective studies was 1.61 $(95\%CI:$ 1.57-1.65) with area
under receiver-operator curve (AUC) = 0.630 $(95\%CI:$
0.628-0.651). The lifetime risk of overall breast cancer in
the top centile of the PRSs was $32.6\%.$ Compared with
women in the middle quintile, those in the highest $1\%$ of
risk had 4.37- and 2.78-fold risks, and those in the lowest
$1\%$ of risk had 0.16- and 0.27-fold risks, of developing
ER-positive and ER-negative disease, respectively.
Goodness-of-fit tests indicated that this PRS was well
calibrated and predicts disease risk accurately in the tails
of the distribution. This PRS is a powerful and reliable
predictor of breast cancer risk that may improve breast
cancer prevention programs.},
cin = {C020 / C070 / C080 / C050 / B072 / V964 / L101 / L801},
ddc = {570},
cid = {I:(DE-He78)C020-20160331 / I:(DE-He78)C070-20160331 /
I:(DE-He78)C080-20160331 / I:(DE-He78)C050-20160331 /
I:(DE-He78)B072-20160331 / I:(DE-He78)V964-20160331 /
I:(DE-He78)L101-20160331 / I:(DE-He78)L801-20160331},
pnm = {319H - Addenda (POF3-319H)},
pid = {G:(DE-HGF)POF3-319H},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:30554720},
doi = {10.1016/j.ajhg.2018.11.002},
url = {https://inrepo02.dkfz.de/record/142242},
}
guest ::