Global Disparities in Breast Cancer Genetics Testing, Counselling and Management

  • C. H. YipEmail author
  • D. G. Evans
  • G. Agarwal
  • I. Buccimazza
  • A. Kwong
  • R. Morant
  • I. Prakash
  • C. Y. Song
  • N. A. Taib
  • C. Tausch
  • O. Ung
  • S. Meterissian
Surgical Symposium Contribution


Hereditary breast cancers, mainly due to BRCA1 and BRCA2 mutations, account for only 5–10% of this disease. The threshold for genetic testing is a 10% likelihood of detecting a mutation, as determined by validated models such as BOADICEA and Manchester Scoring System. A 90–95% reduction in breast cancer risk can be achieved with bilateral risk-reducing mastectomy in unaffected BRCA mutation carriers. In patients with BRCA-associated breast cancer, there is a 40% risk of contralateral breast cancer and hence risk-reducing contralateral mastectomy is recommended, which can be performed simultaneously with surgery for unilateral breast cancer. Other options for risk management include surveillance by mammogram and breast magnetic resonance imaging, and chemoprevention with hormonal agents. With the advent of next-generation sequencing and development of multigene panel testing, the cost and time taken for genetic testing have reduced, making it possible for treatment-focused genetic testing. There are also drugs such as the PARP inhibitors that specifically target the BRCA mutation. Risk management multidisciplinary clinics are designed to quantify risk, and offer advice on preventative strategies. However, such services are only possible in high-income settings. In low-resource settings, the prohibitive cost of testing and the lack of genetic counsellors are major barriers to setting up a breast cancer genetics service. Family history is often not well documented because of the stigma associated with cancer. Breast cancer genetics services remain an unmet need in low- and middle-income countries, where the priority is to optimise access to quality treatment.



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Copyright information

© Société Internationale de Chirurgie 2019

Authors and Affiliations

  • C. H. Yip
    • 1
    Email author
  • D. G. Evans
    • 2
  • G. Agarwal
    • 3
  • I. Buccimazza
    • 4
  • A. Kwong
    • 5
  • R. Morant
    • 6
  • I. Prakash
    • 7
  • C. Y. Song
    • 8
  • N. A. Taib
    • 9
  • C. Tausch
    • 10
  • O. Ung
    • 11
  • S. Meterissian
    • 7
  1. 1.Department of SurgeryRamsay Sime Darby Health CareSubang JayaMalaysia
  2. 2.NIHR Manchester Biomedical Research Centre, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and HealthUniversity of Manchester, Manchester Academic Health Science CentreManchesterUK
  3. 3.Department of Endocrine and Breast SurgerySanjay Gandhi Postgraduate Institute of Medical SciencesLucknowIndia
  4. 4.Department of Surgery, Nelson R Mandela School of MedicineUniversity of KwaZulu-NatalDurbanSouth Africa
  5. 5.Department of SurgeryUniversity of Hong KongHong KongHong Kong
  6. 6.Tumour and Breast CentreSt GallenSwitzerland
  7. 7.Department of SurgeryMcGill University Health CenterMontrealCanada
  8. 8.University of GalwayGalwayIreland
  9. 9.Department of SurgeryUniversity of MalayaKuala LumpurMalaysia
  10. 10.Department of SurgeryBreast-Center ZurichZurichSwitzerland
  11. 11.Department of SurgeryUniversity of QueenslandBrisbaneAustralia

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