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@ARTICLE{Seibert:131811,
author = {T. M. Seibert and C. C. Fan and Y. Wang and V. Zuber and R.
Karunamuni and J. K. Parsons and R. A. Eeles and D. F.
Easton and Z. Kote-Jarai and A. A. Al Olama and S. B. Garcia
and K. Muir and H. Grönberg and F. Wiklund and M. Aly and
J. Schleutker and C. Sipeky and T. L. Tammela and B. G.
Nordestgaard and S. F. Nielsen and M. Weischer and R.
Bisbjerg and M. A. Røder and P. Iversen and T. J. Key and
R. C. Travis and D. E. Neal and J. L. Donovan and F. C.
Hamdy and P. Pharoah and N. Pashayan and K.-T. Khaw and C.
Maier and W. Vogel and M. Luedeke and K. Herkommer and A. S.
Kibel and C. Cybulski and D. Wokolorczyk and W. Kluzniak and
L. Cannon-Albright and H. Brenner$^*$ and K. Cuk$^*$ and
K.-U. Saum$^*$ and J. Y. Park and T. A. Sellers and C.
Slavov and R. Kaneva and V. Mitev and J. Batra and J. A.
Clements and A. Spurdle and M. R. Teixeira and P. Paulo and
S. Maia and H. Pandha and A. Michael and A. Kierzek and D.
S. Karow and I. G. Mills and O. A. Andreassen and A. M.
Dale},
collaboration = {P. Consortium},
title = {{P}olygenic hazard score to guide screening for aggressive
prostate cancer: development and validation in large scale
cohorts.},
journal = {The BMJ},
volume = {360},
issn = {0007-1447},
address = {Malden},
publisher = {BMJ Publishing Group},
reportid = {DKFZ-2018-00106},
pages = {j5757},
year = {2018},
abstract = {To develop and validate a genetic tool to predict age of
onset of aggressive prostate cancer (PCa) and to guide
decisions of who to screen and at what age.Analysis of
genotype, PCa status, and age to select single nucleotide
polymorphisms (SNPs) associated with diagnosis. These
polymorphisms were incorporated into a survival analysis to
estimate their effects on age at diagnosis of aggressive PCa
(that is, not eligible for surveillance according to
National Comprehensive Cancer Network guidelines; any of
Gleason score ≥7, stage T3-T4, PSA (prostate specific
antigen) concentration ≥10 ng/L, nodal metastasis, distant
metastasis). The resulting polygenic hazard score is an
assessment of individual genetic risk. The final model was
applied to an independent dataset containing genotype and
PSA screening data. The hazard score was calculated for
these men to test prediction of survival free from
PCa.Multiple institutions that were members of international
PRACTICAL consortium.All consortium participants of European
ancestry with known age, PCa status, and quality assured
custom (iCOGS) array genotype data. The development dataset
comprised 31 747 men; the validation dataset comprised
6411 men.Prediction with hazard score of age of onset of
aggressive cancer in validation set.In the independent
validation set, the hazard score calculated from 54 single
nucleotide polymorphisms was a highly significant predictor
of age at diagnosis of aggressive cancer (z=11.2, P<10-16).
When men in the validation set with high scores (>98th
centile) were compared with those with average scores
(30th-70th centile), the hazard ratio for aggressive cancer
was 2.9 $(95\%$ confidence interval 2.4 to 3.4). Inclusion
of family history in a combined model did not improve
prediction of onset of aggressive PCa (P=0.59), and
polygenic hazard score performance remained high when family
history was accounted for. Additionally, the positive
predictive value of PSA screening for aggressive PCa was
increased with increasing polygenic hazard score.Polygenic
hazard scores can be used for personalised genetic risk
estimates that can predict for age at onset of aggressive
PCa.},
cin = {C070 / G110 / L101},
ddc = {610},
cid = {I:(DE-He78)C070-20160331 / I:(DE-He78)G110-20160331 /
I:(DE-He78)L101-20160331},
pnm = {313 - Cancer risk factors and prevention (POF3-313)},
pid = {G:(DE-HGF)POF3-313},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:29321194},
pmc = {pmc:PMC5759091},
doi = {10.1136/bmj.j5757 },
url = {https://inrepo02.dkfz.de/record/131811},
}