BRCA Testing



  1. Capoluongo, E. et al. 2017. Guidance statement on BRCA1/2 tumour testing in ovarian cancer patients. Semin Oncol. 44:187-197
  2. Vergote, I. et al. 2016. Current perspectives on recommendations for BRCA genetic testing in ovarian cancer patients. Eur. J. Cancer Oxf. Engl. 69:127–134
  3. Alsop, K. et al. 2012. BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. J. Clin. Oncol. Off. J. Am. Soc. Clin. Oncol. 30, 2654–2663.
  4. Swisher, E. et al. 2008. Secondary BRCA1 mutations in BRCA1-mutated ovarian carcinomas with platinum resistance. Cancer Res. 68, 2581–2586.
  5. Ledermann, J. et al. 2014. Olaparib maintenance therapy in patients with platinum-sensitive relapsed serous ovarian cancer: a preplanned retrospective analysis of outcomes by BRCA status in a randomised phase 2 trial. Lancet Oncol. 15, 852–861.
  6. Gourley, C. et al. 2010. Increased incidence of visceral metastases in Scottish patients with BRCA1/2-defective ovarian cancer: an extension of the ovarian BRCAness phenotype. J. Clin. Oncol. Off. J. Am. Soc. Clin. Oncol. 28, 2505–2511.
  7. Tan, D. & Kaye, S. 2015. Chemotherapy for Patients with BRCA1 and BRCA2-Mutated Ovarian Cancer: Same or Different? Am. Soc. Clin. Oncol. Educ. Book Am. Soc. Clin. Oncol. Meet. 114–121. doi:10.14694/EdBook_AM.2015.35.114.
  8. Bolton, K. et al. 2012. Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. JAMA. 307, 382–390.
  9. Petrucelli, N. et al. 2010. Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2. Genet. Med. Off. J. Am. Coll. Med. Genet. 12, 245–259.
  10. Surbone, A. 2011. Social and ethical implications of BRCA testing. Ann. Oncol. Off. J. Eur. Soc. Med. Oncol. 22 Suppl 1, i60-66.
  11. Finch, A. et al. 2006. Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation. JAMA 296, 185–192.
  12. Domchek, S. et al. 2010. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA. 304, 967–975.
  13. Ledermann, J. et al. 2016. Appendix 7: Ovarian cancer: eUpdate published online September 2016. Ann Oncol. 27(S5):145. 
  14. Pal, T. et al. 2005. BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer. 104(12):2807-2816.
  15. Pennington, KP. et al. 2014. Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clin Cancer Res. 20(3):764-775.
  16. Moschetta, M. et al. 2016. BRCA somatic mutations and epigenetic BRCA modifications in serous ovarian cancer. Ann. Oncol. Off. J. Eur. Soc. Med. Oncol. 27, 1449–1455.
  17. Ngeow J et al. npj Genomic Medicine 2016;1:15006
  18. Vergote I et al. Facts Views Vis Obgyn 2016:8 (3):161-167

GB-17589 - Date of preparation: July 2019