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Human Genetics

, Volume 124, Issue 1, pp 31–42 | Cite as

Hereditary breast cancer: new genetic developments, new therapeutic avenues

  • Philippe M. Campeau
  • William D. Foulkes
  • Marc D. Tischkowitz
Review Article

Abstract

Six genes confer a high risk for developing breast cancer (BRCA1/2, TP53, PTEN, STK11, CDH1). Both BRCA1 and BRCA2 have DNA repair functions, and BRCA1/2 deficient tumors are now being targeted by poly(ADP-ribose) polymerase inhibitors. Other genes conferring an increased risk for breast cancer include ATM, CHEK2, PALB2, BRIP1 and genome-wide association studies have identified lower penetrance alleles including FGFR2, a minor allele of which is associated with breast cancer. We review recent findings related to the function of some of these genes, and discuss how they can be targeted by various drugs. Gaining deeper insights in breast cancer susceptibility will improve our ability to identify those families at increased risk and permit the development of new and more specific therapeutic approaches.

Keywords

Breast Cancer Fanconi Anemia Breast Cancer Susceptibility Hereditary Breast Cancer Nijmegen Breakage Syndrome 
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.

Notes

Acknowledgments

Work in the laboratory of Foulkes was funded by the Canadian Breast Cancer Research Alliance and the Department of Defense (USA). Work in the laboratory of Tischkowitz is funded by the Jewish General Hospital Weekend to End Breast Cancer and Rethink Breast Cancer.

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Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Philippe M. Campeau
    • 1
  • William D. Foulkes
    • 1
    • 2
    • 3
    • 4
  • Marc D. Tischkowitz
    • 1
    • 2
    • 3
    • 4
  1. 1.Department of Medical Genetics, McGill University Health CentreMcGill UniversityMontrealCanada
  2. 2.Cancer Prevention Centre, Segal Cancer Centre, Sir M. B. Davis Jewish General HospitalMcGill UniversityMontrealCanada
  3. 3.Program in Cancer Genetics, Departments of Oncology and Human GeneticsMcGill UniversityMontrealCanada
  4. 4.Department of MedicineMcGill UniversityMontrealCanada

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