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Hereditary breast cancer: new genetic developments, new therapeutic avenues

Human Genetics volume 124, pages 31–42 (2008)Cite this 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.

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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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Affiliations

  1. Department of Medical Genetics, McGill University Health Centre, McGill University, Montreal, QC, Canada

    Philippe M. Campeau, William D. Foulkes & Marc D. Tischkowitz

  2. Cancer Prevention Centre, Segal Cancer Centre, Sir M. B. Davis Jewish General Hospital, McGill University, A802, 3755 Cote Ste Catherine Road, Montreal, H3T 1E2, QC, Canada

    William D. Foulkes & Marc D. Tischkowitz

  3. Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC, Canada

    William D. Foulkes & Marc D. Tischkowitz

  4. Department of Medicine, McGill University, Montreal, QC, Canada

    William D. Foulkes & Marc D. Tischkowitz

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  1. Philippe M. Campeau
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Campeau, P.M., Foulkes, W.D. & Tischkowitz, M.D. Hereditary breast cancer: new genetic developments, new therapeutic avenues. Hum Genet 124, 31–42 (2008). https://doi.org/10.1007/s00439-008-0529-1

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Keywords

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