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  • Kuchenbaecker, Karoline B.Wellcome Trust,University of Cambridge (author)

Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

  • Article/chapterEnglish2017

Publisher, publication year, extent ...

  • 2017-03-09
  • Oxford University Press (OUP),2017

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:2588ef81-ed7e-4640-84a3-36692e54036b
  • https://lup.lub.lu.se/record/2588ef81-ed7e-4640-84a3-36692e54036bURI
  • https://doi.org/10.1093/jnci/djw302DOI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • 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.

Subject headings and genre

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  • McGuffog, LesleyUniversity of Cambridge (author)
  • Barrowdale, DanielUniversity of Cambridge (author)
  • Lee, AndrewUniversity of Cambridge (author)
  • Soucy, PennyCentre hospitalier universitaire de Québec (author)
  • Dennis, JoeUniversity of Cambridge (author)
  • Domchek, Susan M.Cochin Hospital (author)
  • Robson, MarkMemorial Sloan-Kettering Cancer Center (author)
  • Spurdle, Amanda B.QIMR Berghofer Medical Research Institute (author)
  • Ramus, Susan J.University of New South Wales,Garvan Institute of Medical Research (author)
  • Mavaddat, NasimUniversity of Cambridge (author)
  • Terry, Mary BethColumbia University (author)
  • Neuhausen, Susan L.City of Hope National Medical Center (author)
  • Schmutzler, Rita KatharinaUniversity Hospital of Cologne (author)
  • Simard, JacquesCentre hospitalier universitaire de Québec (author)
  • Pharoah, Paul D.P.University of Cambridge (author)
  • Offit, KennethMemorial Sloan-Kettering Cancer Center (author)
  • Couch, Fergus J.Mayo Clinic Minnesota (author)
  • Chenevix-Trench, GeorgiaQIMR Berghofer Medical Research Institute (author)
  • Easton, Douglas F.University of Cambridge (author)
  • Antoniou, Antonis C.University of Cambridge (author)
  • Healey, SueQIMR Berghofer Medical Research Institute (author)
  • Lush, MichaelUniversity of Cambridge (author)
  • Hamann, UteGerman Cancer Research Centre (author)
  • Southey, MelissaUniversity of Melbourne (author)
  • John, Esther M.Cancer Prevention Institute of California (author)
  • Chung, Wendy K.Columbia University (author)
  • Daly, Mary B.Fox Chase Cancer Center (author)
  • Buys, Saundra S.Huntsman Cancer Institute (author)
  • Goldgar, David E.University of Utah (author)
  • Dorfling, Cecilia M.University of Pretoria (author)
  • van Rensburg, Elizabeth J.University of Pretoria (author)
  • Ding, Yuan ChunCity of Hope National Medical Center (author)
  • Ejlertsen, BentCopenhagen University Hospital (author)
  • Gerdes, Anne MarieCopenhagen University Hospital (author)
  • Hansen, Thomas V.O.Copenhagen University Hospital (author)
  • Slager, SusanMayo Clinic Minnesota (author)
  • Hallberg, EmilyMayo Clinic Minnesota (author)
  • Benitez, JavierBiomedical Network on Rare Diseases (CIBERER),Spanish National Cancer Research Center (CNIO) (author)
  • Osorio, AnaBiomedical Network on Rare Diseases (CIBERER) (author)
  • Cohen, NancyCity of Hope National Medical Center (author)
  • Lawler, WilliamCity of Hope National Medical Center (author)
  • Weitzel, Jeffrey N.City of Hope National Medical Center (author)
  • Peterlongo, PaoloIFOM - The FIRC Institute of Molecular Oncology (author)
  • Pensotti, ValeriaCogentech,IFOM - The FIRC Institute of Molecular Oncology (author)
  • Dolcetti, RiccardoCRO (Centro di Riferimento Oncologico) Aviano National Cancer Institute,University of Queensland (author)
  • Barile, MonicaEuropean Institute of Oncology (author)
  • Bonanni, BernardoEuropean Institute of Oncology (author)
  • Borg, AkeLund 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 Medicine(Swepub:lu)onk-abo (author)
  • Ehrencrona, HansLund 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 Hospital(Swepub:lu)med-hen (author)
  • Wellcome TrustUniversity of Cambridge (creator_code:org_t)

Related titles

  • In:Journal of the National Cancer Institute: Oxford University Press (OUP)109:70027-88741460-2105

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