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. 2015 Jun 4;372(23):2243-57.
doi: 10.1056/NEJMsr1501341. Epub 2015 May 27.

Gene-panel sequencing and the prediction of breast-cancer risk

Douglas F Easton  1 , Paul D P Pharoah, Antonis C Antoniou, Marc Tischkowitz, Sean V Tavtigian, Katherine L Nathanson, Peter Devilee, Alfons Meindl, Fergus J Couch, Melissa Southey, David E Goldgar, D Gareth R Evans, Georgia Chenevix-Trench, Nazneen Rahman, Mark Robson, Susan M Domchek, William D Foulkes
Affiliations

Gene-panel sequencing and the prediction of breast-cancer risk

Douglas F Easton et al. N Engl J Med. .
No abstract available

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Figures

Figure 1
Figure 1. Predicted Cumulative Risk of Breast Cancer for a Carrier of a Deleterious Mutation in PALB2 and for a Deleterious Mutation in CHEK2
Solid red lines represent summary estimates, and red dashed lines the upper and lower 90% confidence limits. The absolute risks were estimated by applying the estimates of relative risk to the rates for the incidence of breast cancer in England from 2003 through 2007 (obtained from the database Cancer Incidence in Five Continents, volume X). The solid blue lines represent the cumulative risks according to these population incidence rates (i.e., corresponding to a relative risk of 1). Estimates ignore competing mortality (i.e., they represent the cumulative risks in the absence of death from another cause). The dashed horizontal black lines represent lifetime risks that are twice and four times as high as the population average. Thus, a “typical” carrier of the CHEK2 mutation is likely to fall into the category of moderate risk. The best estimate for carriers of the PALB2 mutation places them in the high-risk category, but the confidence interval for the estimate is such that their risk may be moderate. These estimates constitute average cumulative risks (for a woman not selected for other risk factors) and are modified by other risk factors, including family history.
See this image and copyright information in PMC

Comment in

  • ClinGen and Genetic Testing.
    Easton DF, Pharoah PD, Foulkes WD. Easton DF, et al. N Engl J Med. 2015 Oct;373(14):1378. doi: 10.1056/NEJMc1508700. N Engl J Med. 2015. PMID: 26422736 No abstract available.
  • ClinGen and Genetic Testing.
    Karam R, Pesaran T, Chao E. Karam R, et al. N Engl J Med. 2015 Oct;373(14):1376-7. doi: 10.1056/NEJMc1508700. N Engl J Med. 2015. PMID: 26422737 No abstract available.
  • ClinGen and Genetic Testing.
    Peshkin BN, Isaacs C. Peshkin BN, et al. N Engl J Med. 2015 Oct;373(14):1377. doi: 10.1056/NEJMc1508700. N Engl J Med. 2015. PMID: 26422738 No abstract available.
  • ClinGen and Genetic Testing.
    Nielsen M, ten Broeke S, Sijmons R. Nielsen M, et al. N Engl J Med. 2015 Oct;373(14):1377. doi: 10.1056/NEJMc1508700. N Engl J Med. 2015. PMID: 26422739 No abstract available.
  • ClinGen and Genetic Testing.
    Lennerz JK, Ramamurthy L. Lennerz JK, et al. N Engl J Med. 2015 Oct;373(14):1377-8. doi: 10.1056/NEJMc1508700. N Engl J Med. 2015. PMID: 26422740 No abstract available.

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