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@ARTICLE{Kramer:163919,
author = {I. Kramer and M. J. Hooning and N. Mavaddat and M.
Hauptmann and R. Keeman and E. W. Steyerberg and D.
Giardiello and A. C. Antoniou and P. D. P. Pharoah and S.
Canisius and Z. Abu-Ful and I. L. Andrulis and H.
Anton-Culver and K. J. Aronson and A. Augustinsson and H.
Becher and M. W. Beckmann and S. Behrens$^*$ and J. Benitez
and M. Bermisheva and N. V. Bogdanova and S. E. Bojesen and
M. K. Bolla and B. Bonanni and H. Brauch$^*$ and M. Bremer
and S. Y. Brucker and B. Burwinkel$^*$ and J. E. Castelao
and T. L. Chan and J. Chang-Claude$^*$ and S. J. Chanock and
G. Chenevix-Trench and J.-Y. Choi and C. L. Clarke and J. M.
Collée 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 A. M. Dunning and M. Dwek and D. M.
Eccles and D. G. Evans and P. A. Fasching and H. Flyger and
M. Gago-Dominguez and M. García-Closas and J. A.
García-Sáenz and G. G. Giles and D. E. Goldgar and A.
González-Neira and C. A. Haiman and N. Håkansson and U.
Hamann$^*$ and M. Hartman and B. A. M. Heemskerk-Gerritsen
and A. Hollestelle and J. L. Hopper and M.-F. Hou and A.
Howell and H. Ito and M. Jakimovska and A. Jakubowska and W.
Janni and E. M. John and A. Jung$^*$ and D. Kang and C. M.
Kets and E. Khusnutdinova and Y.-D. Ko and V. N. Kristensen
and A. W. Kurian and A. Kwong and D. Lambrechts and L. Le
Marchand and J. Li and A. Lindblom and J. Lubiński and A.
Mannermaa and M. Manoochehri$^*$ and S. Margolin and K.
Matsuo and D. Mavroudis and A. Meindl and R. L. Milne and A.
M. Mulligan and T. A. Muranen and S. L. Neuhausen and H.
Nevanlinna and W. G. Newman and A. F. Olshan and J. E. Olson
and H. Olsson and T.-W. Park-Simon and J. Peto and C.
Petridis and D. Plaseska-Karanfilska and N. Presneau and K.
Pylkäs and P. Radice and G. Rennert and A. Romero and R.
Roylance and E. Saloustros and E. J. Sawyer and R. K.
Schmutzler and L. Schwentner and C. Scott and M.-H. See and
M. Shah and C.-Y. Shen and X.-O. Shu and S. Siesling and S.
Slager and C. Sohn and M. C. Southey and J. J. Spinelli and
J. Stone and W. J. Tapper and M. Tengström and S. H. Teo
and M. B. Terry and R. A. E. M. Tollenaar and I. Tomlinson
and M. A. Troester and C. M. Vachon and C. van Ongeval and
E. M. van Veen and R. Winqvist and A. Wolk and W. Zheng and
A. Ziogas and D. F. Easton and P. Hall and M. K. Schmidt and
A.-L. Børresen-Dale and K. Sahlberg and L. Ottestad and R.
Kåresen and E. Schlichting and M. M. Holmen and T. Sauer
and V. Haakensen and O. Engebråten and B. Naume and A.
Fosså and C. Kiserud and K. Reinertsen and Å. Helland and
M. Riis and J. Geisler and G. G. Alnæs 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 J. D.
Graham and M. Sachchithananthan and D. Amor and L. Andrews
and Y. Antill and R. Balleine and J. Beesley and I. Bennett
and M. Bogwitz and L. Botes and M. Brennan and M. Brown and
M. Buckley and J. Burke and P. Butow and L. Caldon and I.
Campbell and D. Chauhan and M. Chauhan and G.
Chenevix-Trench and A. Christian and P. Cohen and A. Colley
and A. Crook and J. Cui and M. Cummings and S.-J. Dawson and
A. deFazio and M. Delatycki and R. Dickson and J. Dixon and
T. Edkins and S. Edwards and G. Farshid and A. Fellows and
G. Fenton and M. Field and J. Flanagan and P. Fong and L.
Forrest and S. Fox and J. French and M. Friedlander and C.
Gaff and M. Gattas and P. George and S. Greening and M.
Harris and S. Hart and N. Hayward and J. Hopper and C.
Hoskins and C. Hunt and P. James and M. Jenkins and A. Kidd
and J. Kirk and J. Koehler and J. Kollias and S. Lakhani and
M. Lawrence and G. Lindeman and L. Lipton and L. Lobb and G.
Mann and D. Marsh and S. A. McLachlan and B. Meiser and R.
Milne and S. Nightingale and S. O'Connell and S. O'Sullivan
and D. G. Ortega and N. Pachter and B. Patterson and A.
Pearn and K. Phillips and E. Pieper and E. Rickard and B.
Robinson and M. Saleh and E. Salisbury and C. Saunders and
J. Saunus and R. Scott and C. Scott and A. Sexton and A.
Shelling and P. Simpson and M. Southey and A. Spurdle and J.
Taylor and R. Taylor and H. Thorne and A. Trainer and K.
Tucker and J. Visvader and L. Walker and R. Williams and I.
Winship and M. A. Young},
collaboration = {NBCS Collaborators and A. Investigators and k.
Investigators},
title = {{B}reast {C}ancer {P}olygenic {R}isk {S}core and
{C}ontralateral {B}reast {C}ancer {R}isk.},
journal = {The American journal of human genetics},
volume = {107},
number = {5},
issn = {0002-9297},
address = {New York, NY},
publisher = {Elsevier},
reportid = {DKFZ-2020-02143},
pages = {837-848},
year = {2020},
note = {2020 Nov 5;107(5):837-848},
abstract = {Previous research has shown that polygenic risk scores
(PRSs) can be used to stratify women according to their risk
of developing primary invasive breast cancer. This study
aimed to evaluate the association between a recently
validated PRS of 313 germline variants (PRS313) and
contralateral breast cancer (CBC) risk. We included 56,068
women of European ancestry diagnosed with first invasive
breast cancer from 1990 onward with follow-up from the
Breast Cancer Association Consortium. Metachronous CBC risk
(N = 1,027) according to the distribution of PRS313 was
quantified using Cox regression analyses. We assessed PRS313
interaction with age at first diagnosis, family history,
morphology, ER status, PR status, and HER2 status, and
(neo)adjuvant therapy. In studies of Asian women, with
limited follow-up, CBC risk associated with PRS313 was
assessed using logistic regression for 340 women with CBC
compared with 12,133 women with unilateral breast cancer.
Higher PRS313 was associated with increased CBC risk: hazard
ratio per standard deviation (SD) = 1.25 $(95\%CI$ =
1.18-1.33) for Europeans, and an OR per SD = 1.15 $(95\%CI$
= 1.02-1.29) for Asians. The absolute lifetime risks of CBC,
accounting for death as competing risk, were $12.4\%$ for
European women at the 10th percentile and $20.5\%$ at the
90th percentile of PRS313. We found no evidence of
confounding by or interaction with individual
characteristics, characteristics of the primary tumor, or
treatment. The C-index for the PRS313 alone was 0.563
$(95\%CI$ = 0.547-0.586). In conclusion, PRS313 is an
independent factor associated with CBC risk and can be
incorporated into CBC risk prediction models to help improve
stratification and optimize surveillance and treatment
strategies.},
cin = {C020 / TU01 / C080 / B072 / B070},
ddc = {570},
cid = {I:(DE-He78)C020-20160331 / I:(DE-He78)TU01-20160331 /
I:(DE-He78)C080-20160331 / I:(DE-He78)B072-20160331 /
I:(DE-He78)B070-20160331},
pnm = {319H - Addenda (POF3-319H)},
pid = {G:(DE-HGF)POF3-319H},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:33022221},
doi = {10.1016/j.ajhg.2020.09.001},
url = {https://inrepo02.dkfz.de/record/163919},
}