Breast Cancer Research and Treatment

, Volume 151, Issue 2, pp 475–476 | Cite as

Interpretation of genomic variation and disease association: the great missense mutation challenge!

  • Tú Nguyen-Dumont
  • Ingrid Winship
  • Melissa C. Southey
Letter to the Editor


Breast Cancer Breast Cancer Risk Missense Mutation BRCA1 Mutation Carrier Missense Variant 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. 1.
    Nguyen-Dumont T, Hammet F, Mahmoodi M et al (2015) Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry. Breast Cancer Res Treat 149(2):547–554. doi: 10.1007/s10549-014-3260-8 CrossRefPubMedGoogle Scholar
  2. 2.
    Antoniou AC, Casadei S, Heikkinen T et al (2014) Breast-cancer risk in families with mutations in PALB2. N Engl J Med 371(6):497–506. doi: 10.1056/NEJMoa1400382 CrossRefPubMedCentralPubMedGoogle Scholar
  3. 3.
    Southey MC, Park DJ, Nguyen-Dumont T et al (2013) COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration. Breast Cancer Res 15(3):402. doi: 10.1186/bcr3434 PubMedCentralPubMedGoogle Scholar
  4. 4. Accessed 16 April 2015

Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  • Tú Nguyen-Dumont
    • 1
  • Ingrid Winship
    • 2
    • 3
  • Melissa C. Southey
    • 1
  1. 1.Genetic Epidemiology Laboratory, Department of PathologyThe University of MelbourneMelbourneAustralia
  2. 2.Department of MedicineThe University of MelbourneMelbourneAustralia
  3. 3.The Royal Melbourne HospitalParkvilleAustralia

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