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New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study
  1. Inga Plaskocinska1,2,
  2. Hannah Shipman1,2,
  3. James Drummond2,
  4. Edward Thompson2,
  5. Vanessa Buchanan3,
  6. Barbara Newcombe4,
  7. Charlotte Hodgkin4,
  8. Elisa Barter5,
  9. Paul Ridley6,
  10. Rita Ng6,
  11. Suzanne Miller7,
  12. Adela Dann8,9,
  13. Victoria Licence8,9,
  14. Hayley Webb10,
  15. Li Tee Tan7,
  16. Margaret Daly10,
  17. Sarah Ayers5,
  18. Barnaby Rufford6,
  19. Helena Earl11,
  20. Christine Parkinson12,
  21. Timothy Duncan9,
  22. Mercedes Jimenez-Linan13,
  23. Gurdeep S Sagoo3,14,
  24. Stephen Abbs1,
  25. Nicholas Hulbert-Williams15,
  26. Paul Pharoah16,
  27. Robin Crawford12,
  28. James D Brenton12,17,
  29. Marc Tischkowitz1,2
  1. 1Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, Cambridgeshire, UK
  2. 2East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK
  3. 3PHG Foundation, Cambridge, UK
  4. 4Cambridge Cancer Trials Centre, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK
  5. 5Department of Oncology, Peterborough and Stamford Hospitals NHS Foundation Trust, Peterborough, Peterborough, UK
  6. 6Cancer Services, The Ipswich Hospital NHS Trust, Ipswich, Suffolk, UK
  7. 7Clinical Cancer Services, Hinchingbrooke Health Care NHS Trust, Huntingdon, Cambridgeshire, UK
  8. 8Cancer Research Team, Norfolk and Norwich University Hospitals NHS Foundation Trust, Norwich, Norfolk, UK
  9. 9Department of Obstetrics and Gynaecology, Norfolk and Norwich University Hospitals NHS Foundation Trust, Norwich, Norfolk, UK
  10. 10Department of Oncology, The Queen Elizabeth Hospital King's Lynn NHS Foundation Trust, King's Lynn, UK
  11. 11Department of Oncology, University of Cambridge, NIHR Cambridge Biomedical Research Centre, Cambridge, Cambridgeshire, UK
  12. 12Cancer Services, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK
  13. 13Department of Pathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK
  14. 14Academic Unit of Health Economics, Leeds Institute of Health Sciences, University of Leeds, Leeds, UK
  15. 15Department of Psychology, University of Chester, Chester, Cheshire West and Chester, UK
  16. 16Department of Public Health and Primary Care, University of Cambridge, Cambridge, Cambridgeshire, UK
  17. 17Cancer Research UK Cambridge Institute, Cambridge, Cambridgeshire, UK
  1. Correspondence to Dr Marc Tischkowitz, Department of Medical Genetics, Box 238, Level 6 Addenbrooke's Treatment Centre, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK; mdt33{at}cam.ac.uk

Abstract

Background Over recent years genetic testing for germline mutations in BRCA1/BRCA2 has become more readily available because of technological advances and reducing costs.

Objective To explore the feasibility and acceptability of offering genetic testing to all women recently diagnosed with epithelial ovarian cancer (EOC).

Methods Between 1 July 2013 and 30 June 2015 women newly diagnosed with EOC were recruited through six sites in East Anglia, UK into the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study. Eligibility was irrespective of patient age and family history of cancer. The psychosocial arm of the study used self-report, psychometrically validated questionnaires (Depression Anxiety and Stress Scale (DASS-21); Impact of Event Scale (IES)) and cost analysis was performed.

Results 232 women were recruited and 18 mutations were detected (12 in BRCA1, 6 in BRCA2), giving a mutation yield of 8%, which increased to 12% in unselected women aged <70 years (17/146) but was only 1% in unselected women aged ≥70 years (1/86). IES and DASS-21 scores in response to genetic testing were significantly lower than equivalent scores in response to cancer diagnosis (p<0.001). Correlation tests indicated that although older age is a protective factor against any traumatic impacts of genetic testing, no significant correlation exists between age and distress outcomes.

Conclusions The mutation yield in unselected women diagnosed with EOC from a heterogeneous population with no founder mutations was 8% in all ages and 12% in women under 70. Unselected genetic testing in women with EOC was acceptable to patients and is potentially less resource-intensive than current standard practice.

  • Clinical genetics
  • Genetic screening/counselling
  • Obstetrics and Gynaecology

This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

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