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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00007483naa a2200889 4500
001oai:lup.lub.lu.se:2588ef81-ed7e-4640-84a3-36692e54036b
003SwePub
008180903s2017 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/2588ef81-ed7e-4640-84a3-36692e54036b2 URI
0247 a https://doi.org/10.1093/jnci/djw3022 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Kuchenbaecker, Karoline B.u Wellcome Trust,University of Cambridge4 aut
2451 0a Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers
264 c 2017-03-09
264 1b 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 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
7001 a McGuffog, Lesleyu University of Cambridge4 aut
7001 a Barrowdale, Danielu University of Cambridge4 aut
7001 a Lee, Andrewu University of Cambridge4 aut
7001 a Soucy, Pennyu Centre hospitalier universitaire de Québec4 aut
7001 a Dennis, Joeu University of Cambridge4 aut
7001 a Domchek, Susan M.u Cochin Hospital4 aut
7001 a Robson, Marku Memorial Sloan-Kettering Cancer Center4 aut
7001 a Spurdle, Amanda B.u QIMR Berghofer Medical Research Institute4 aut
7001 a Ramus, Susan J.u University of New South Wales,Garvan Institute of Medical Research4 aut
7001 a Mavaddat, Nasimu University of Cambridge4 aut
7001 a Terry, Mary Bethu Columbia University4 aut
7001 a Neuhausen, Susan L.u City of Hope National Medical Center4 aut
7001 a Schmutzler, Rita Katharinau University Hospital of Cologne4 aut
7001 a Simard, Jacquesu Centre hospitalier universitaire de Québec4 aut
7001 a Pharoah, Paul D.P.u University of Cambridge4 aut
7001 a Offit, Kennethu Memorial Sloan-Kettering Cancer Center4 aut
7001 a Couch, Fergus J.u Mayo Clinic Minnesota4 aut
7001 a Chenevix-Trench, Georgiau QIMR Berghofer Medical Research Institute4 aut
7001 a Easton, Douglas F.u University of Cambridge4 aut
7001 a Antoniou, Antonis C.u University of Cambridge4 aut
7001 a Healey, Sueu QIMR Berghofer Medical Research Institute4 aut
7001 a Lush, Michaelu University of Cambridge4 aut
7001 a Hamann, Uteu German Cancer Research Centre4 aut
7001 a Southey, Melissau University of Melbourne4 aut
7001 a John, Esther M.u Cancer Prevention Institute of California4 aut
7001 a Chung, Wendy K.u Columbia University4 aut
7001 a Daly, Mary B.u Fox Chase Cancer Center4 aut
7001 a Buys, Saundra S.u Huntsman Cancer Institute4 aut
7001 a Goldgar, David E.u University of Utah4 aut
7001 a Dorfling, Cecilia M.u University of Pretoria4 aut
7001 a van Rensburg, Elizabeth J.u University of Pretoria4 aut
7001 a Ding, Yuan Chunu City of Hope National Medical Center4 aut
7001 a Ejlertsen, Bentu Copenhagen University Hospital4 aut
7001 a Gerdes, Anne Marieu Copenhagen University Hospital4 aut
7001 a Hansen, Thomas V.O.u Copenhagen University Hospital4 aut
7001 a Slager, Susanu Mayo Clinic Minnesota4 aut
7001 a Hallberg, Emilyu Mayo Clinic Minnesota4 aut
7001 a Benitez, Javieru Biomedical Network on Rare Diseases (CIBERER),Spanish National Cancer Research Center (CNIO)4 aut
7001 a Osorio, Anau Biomedical Network on Rare Diseases (CIBERER)4 aut
7001 a Cohen, Nancyu City of Hope National Medical Center4 aut
7001 a Lawler, Williamu City of Hope National Medical Center4 aut
7001 a Weitzel, Jeffrey N.u City of Hope National Medical Center4 aut
7001 a Peterlongo, Paolou IFOM - The FIRC Institute of Molecular Oncology4 aut
7001 a Pensotti, Valeriau Cogentech,IFOM - The FIRC Institute of Molecular Oncology4 aut
7001 a Dolcetti, Riccardou CRO (Centro di Riferimento Oncologico) Aviano National Cancer Institute,University of Queensland4 aut
7001 a Barile, Monicau European Institute of Oncology4 aut
7001 a Bonanni, Bernardou European Institute of Oncology4 aut
7001 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
7001 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
7102 a Wellcome Trustb University of Cambridge4 org
7730 t Journal of the National Cancer Instituted : Oxford University Press (OUP)g 109:7q 109:7x 0027-8874x 1460-2105
8564 u http://dx.doi.org/10.1093/jnci/djw302x freey FULLTEXT
8564 u https://academic.oup.com/jnci/article-pdf/109/7/djw302/23556726/djw302.pdf
8564 8u https://lup.lub.lu.se/record/2588ef81-ed7e-4640-84a3-36692e54036b
8564 8u https://doi.org/10.1093/jnci/djw302

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