For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
30
views
18
references
 Top references
cited by
294
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
0 collections
    0
    shares
      2,035
      similar
       All similar
      • Record: found
      • Abstract: not found
      • Article: not found

      Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women

      Author(s): 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , 1 , Breast Cancer Association Consortium
      Publication date (Electronic):
      Journal: New England Journal of Medicine
      Publisher: Massachusetts Medical Society

      Read this article at

      ScienceOpenPublisherPubMed
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          <p class="first" id="d4655389e1642">Genetic testing for breast cancer susceptibility is widely used, but for many genes, evidence of an association with breast cancer is weak, underlying risk estimates are imprecise, and reliable subtype-specific risk estimates are lacking. </p>

          Related collections

          Most cited references18

          • Record: found
          • Abstract: found
          • Article: not found

          Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

          Karoline Kuchenbaecker, John Hopper, Daniel R. Barnes … (2017)
          The clinical management of BRCA1 and BRCA2 mutation carriers requires accurate, prospective cancer risk estimates.
          Article 0 comments Cited 707 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies.

            A. Antoniou, P.D.P. PHAROAH, S Narod … (2003)
            Germline mutations in BRCA1 and BRCA2 confer high risks of breast and ovarian cancer, but the average magnitude of these risks is uncertain and may depend on the context. Estimates based on multiple-case families may be enriched for mutations of higher risk and/or other familial risk factors, whereas risk estimates from studies based on cases unselected for family history have been imprecise. We pooled pedigree data from 22 studies involving 8,139 index case patients unselected for family history with female (86%) or male (2%) breast cancer or epithelial ovarian cancer (12%), 500 of whom had been found to carry a germline mutation in BRCA1 or BRCA2. Breast and ovarian cancer incidence rates for mutation carriers were estimated using a modified segregation analysis, based on the occurrence of these cancers in the relatives of mutation-carrying index case patients. The average cumulative risks in BRCA1-mutation carriers by age 70 years were 65% (95% confidence interval 44%-78%) for breast cancer and 39% (18%-54%) for ovarian cancer. The corresponding estimates for BRCA2 were 45% (31%-56%) and 11% (2.4%-19%). Relative risks of breast cancer declined significantly with age for BRCA1-mutation carriers (P trend.0012) but not for BRCA2-mutation carriers. Risks in carriers were higher when based on index breast cancer cases diagnosed at <35 years of age. We found some evidence for a reduction in risk in women from earlier birth cohorts and for variation in risk by mutation position for both genes. The pattern of cancer risks was similar to those found in multiple-case families, but their absolute magnitudes were lower, particularly for BRCA2. The variation in risk by age at diagnosis of index case is consistent with the effects of other genes modifying cancer risk in carriers.
            Article 0 comments Cited 290 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and non-genetic risk factors

              Andrew Lee, Nasim Mavaddat, Amber N Wilcox … (2019)
              Purpose Breast cancer (BC) risk prediction allows systematic identification of individuals at highest and lowest risk. We extend the BOADICEA risk model to incorporate the effects of Polygenic Risk Scores (PRS) and other risk factors (RFs). Methods BOADICEA incorporates the effects of truncating variants in BRCA1, BRCA2, PALB2, CHEK2 and ATM; a PRS based on 313 SNPs explaining 20% of BC polygenic variance; a residual polygenic component accounting for other genetic/familial effects; known lifestyle/hormonal/reproductive RFs and mammographic density, while allowing for missing information. Results Among all factors considered, the predicted UK BC risk distribution is widest for the PRS, followed by mammographic density. The highest BC risk stratification is achieved when all genetic and lifestyle/hormonal/reproductive/anthropomorphic factors are considered jointly. With all factors, the predicted lifetime risks for women in the UK population vary from 2.8% for the 1st percentile to 30.6% for the 99th. 14.7% of women are predicted to have a lifetime risk of ≥17%-<30% (moderate risk according to NICE guidelines) and 1.1% a lifetime risk of ≥30% (high risk). Conclusions This comprehensive model should enable high levels of BC risk stratification in the general population and women with family history, and facilitate individualised, informed decision-making on prevention therapies and screening.
              Article 0 comments Cited 218 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Contributors
                Renske Keeman: (View ORCID Profile)
                Brennan Decker: (View ORCID Profile)
                Mikael Eriksson: (View ORCID Profile)
                Maria Elena Martinez: (View ORCID Profile)
                Harald Surowy: (View ORCID Profile)
                Paul D.P. Pharoah: (View ORCID Profile)
                Journal
                Title: New England Journal of Medicine
                Abbreviated Title: N Engl J Med
                Publisher: Massachusetts Medical Society
                ISSN (Print): 0028-4793
                ISSN (Electronic): 1533-4406
                Publication date (Electronic): January 20 2021
                Affiliations
                [1 ]The authors’ affiliations are as follows: the Centre for Cancer Genetic Epidemiology, Departments of Public Health and Primary Care (L.D., S. Carvalho, J.A., K.A.P., Q.W., M.K.B., J.D., B.D., N. Mavaddat, K. Michailidou, A.C.A., P.D.P.P., D.F.E.) and Oncology (C.L., P.A.H., C. Baynes, D.M.C., L.F., V.R., M. Shah, P.D.P.P., A.M.D., D.F.E.), University of Cambridge, Cambridge, the Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine (A. Campbell, D.J.P.), and the...
                Article
                DOI: 10.1056/NEJMoa1913948
                PubMed ID: 33471991
                SO-VID: f34ee6d5-0b55-4f33-8ced-437333d9e00b
                Copyright © © 2021
                History

                Data availability:

                Comments

                Comment on this article

                scite_

                Similar content2,035

                See all similar

                Cited by282

                See all cited by

                Most referenced authors690

                See all reference authors