Search: onr:"swepub:oai:lup.lub.lu.se:2588ef81-ed7e-4640-84a3-36692e54036b" > Evaluation of polyg...
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000 | 07483naa a2200889 4500 | |
001 | oai:lup.lub.lu.se:2588ef81-ed7e-4640-84a3-36692e54036b | |
003 | SwePub | |
008 | 180903s2017 | |||||||||||000 ||eng| | |
024 | 7 | a https://lup.lub.lu.se/record/2588ef81-ed7e-4640-84a3-36692e54036b2 URI |
024 | 7 | a https://doi.org/10.1093/jnci/djw3022 DOI |
040 | a (SwePub)lu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Kuchenbaecker, Karoline B.u Wellcome Trust,University of Cambridge4 aut |
245 | 1 0 | a Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers |
264 | c 2017-03-09 | |
264 | 1 | b Oxford University Press (OUP),c 2017 |
520 | a Background: Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 associated with ovarian cancer (OC) risk. Several of these are also associated with risk of BC or OC for women who carry a pathogenic mutation in the high-risk BC and OC genes BRCA1 or BRCA2. The combined effects of these variants on BC or OC risk for BRCA1 and BRCA2 mutation carriers have not yet been assessed while their clinical management could benefit from improved personalized risk estimates. Methods: We constructed polygenic risk scores (PRS) using BC and OC susceptibility SNPs identified through population-based GWAS: for BC (overall, estrogen receptor [ER]-positive, and ER-negative) and for OC. Using data from 15 252 female BRCA1 and 8211 BRCA2 carriers, the association of each PRS with BC or OC risk was evaluated using a weighted cohort approach, with time to diagnosis as the outcome and estimation of the hazard ratios (HRs) per standard deviation increase in the PRS. Results: The PRS for ER-negative BC displayed the strongest association with BC risk in BRCA1 carriers (HR = 1.27, 95% confidence interval [CI] = 1.23 to 1.31, P = 8.2 × 10-53). InBRCA2 carriers, the strongest association with BC risk was seen for the overall BCPRS (HR = 1.22, 95% CI = 1.17 to 1.28, P = 7.2 × 10-20). The OC PRS was strongly associated with OC risk for both BRCA1 and BRCA2 carriers. These translate to differences in absolute risks (more than 10% in each case) between the top and bottom deciles of the PRS distribution; for example, the OC risk was 6% by age 80 years for BRCA2 carriers at the 10th percentile of the OC PRS compared with 19% risk for those at the 90th percentile of PRS. Conclusions: BC and OC PRS are predictive of cancer risk in BRCA1 and BRCA2 carriers. Incorporation of the PRS into risk prediction models has promise to better inform decisions on cancer risk management. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng |
700 | 1 | a McGuffog, Lesleyu University of Cambridge4 aut |
700 | 1 | a Barrowdale, Danielu University of Cambridge4 aut |
700 | 1 | a Lee, Andrewu University of Cambridge4 aut |
700 | 1 | a Soucy, Pennyu Centre hospitalier universitaire de Québec4 aut |
700 | 1 | a Dennis, Joeu University of Cambridge4 aut |
700 | 1 | a Domchek, Susan M.u Cochin Hospital4 aut |
700 | 1 | a Robson, Marku Memorial Sloan-Kettering Cancer Center4 aut |
700 | 1 | a Spurdle, Amanda B.u QIMR Berghofer Medical Research Institute4 aut |
700 | 1 | a Ramus, Susan J.u University of New South Wales,Garvan Institute of Medical Research4 aut |
700 | 1 | a Mavaddat, Nasimu University of Cambridge4 aut |
700 | 1 | a Terry, Mary Bethu Columbia University4 aut |
700 | 1 | a Neuhausen, Susan L.u City of Hope National Medical Center4 aut |
700 | 1 | a Schmutzler, Rita Katharinau University Hospital of Cologne4 aut |
700 | 1 | a Simard, Jacquesu Centre hospitalier universitaire de Québec4 aut |
700 | 1 | a Pharoah, Paul D.P.u University of Cambridge4 aut |
700 | 1 | a Offit, Kennethu Memorial Sloan-Kettering Cancer Center4 aut |
700 | 1 | a Couch, Fergus J.u Mayo Clinic Minnesota4 aut |
700 | 1 | a Chenevix-Trench, Georgiau QIMR Berghofer Medical Research Institute4 aut |
700 | 1 | a Easton, Douglas F.u University of Cambridge4 aut |
700 | 1 | a Antoniou, Antonis C.u University of Cambridge4 aut |
700 | 1 | a Healey, Sueu QIMR Berghofer Medical Research Institute4 aut |
700 | 1 | a Lush, Michaelu University of Cambridge4 aut |
700 | 1 | a Hamann, Uteu German Cancer Research Centre4 aut |
700 | 1 | a Southey, Melissau University of Melbourne4 aut |
700 | 1 | a John, Esther M.u Cancer Prevention Institute of California4 aut |
700 | 1 | a Chung, Wendy K.u Columbia University4 aut |
700 | 1 | a Daly, Mary B.u Fox Chase Cancer Center4 aut |
700 | 1 | a Buys, Saundra S.u Huntsman Cancer Institute4 aut |
700 | 1 | a Goldgar, David E.u University of Utah4 aut |
700 | 1 | a Dorfling, Cecilia M.u University of Pretoria4 aut |
700 | 1 | a van Rensburg, Elizabeth J.u University of Pretoria4 aut |
700 | 1 | a Ding, Yuan Chunu City of Hope National Medical Center4 aut |
700 | 1 | a Ejlertsen, Bentu Copenhagen University Hospital4 aut |
700 | 1 | a Gerdes, Anne Marieu Copenhagen University Hospital4 aut |
700 | 1 | a Hansen, Thomas V.O.u Copenhagen University Hospital4 aut |
700 | 1 | a Slager, Susanu Mayo Clinic Minnesota4 aut |
700 | 1 | a Hallberg, Emilyu Mayo Clinic Minnesota4 aut |
700 | 1 | a Benitez, Javieru Biomedical Network on Rare Diseases (CIBERER),Spanish National Cancer Research Center (CNIO)4 aut |
700 | 1 | a Osorio, Anau Biomedical Network on Rare Diseases (CIBERER)4 aut |
700 | 1 | a Cohen, Nancyu City of Hope National Medical Center4 aut |
700 | 1 | a Lawler, Williamu City of Hope National Medical Center4 aut |
700 | 1 | a Weitzel, Jeffrey N.u City of Hope National Medical Center4 aut |
700 | 1 | a Peterlongo, Paolou IFOM - The FIRC Institute of Molecular Oncology4 aut |
700 | 1 | a Pensotti, Valeriau Cogentech,IFOM - The FIRC Institute of Molecular Oncology4 aut |
700 | 1 | a Dolcetti, Riccardou CRO (Centro di Riferimento Oncologico) Aviano National Cancer Institute,University of Queensland4 aut |
700 | 1 | a Barile, Monicau European Institute of Oncology4 aut |
700 | 1 | a Bonanni, Bernardou European Institute of Oncology4 aut |
700 | 1 | a Borg, Akeu Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)onk-abo |
700 | 1 | a Ehrencrona, Hansu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Skåne University Hospital4 aut0 (Swepub:lu)med-hen |
710 | 2 | a Wellcome Trustb University of Cambridge4 org |
773 | 0 | t Journal of the National Cancer Instituted : Oxford University Press (OUP)g 109:7q 109:7x 0027-8874x 1460-2105 |
856 | 4 | u http://dx.doi.org/10.1093/jnci/djw302x freey FULLTEXT |
856 | 4 | u https://academic.oup.com/jnci/article-pdf/109/7/djw302/23556726/djw302.pdf |
856 | 4 8 | u https://lup.lub.lu.se/record/2588ef81-ed7e-4640-84a3-36692e54036b |
856 | 4 8 | u https://doi.org/10.1093/jnci/djw302 |
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