New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study

Inga Plaskocinska¹, Hannah Shipman¹, James Drummond², Edward Thompson², Vanessa Buchanan³, Barbara Newcombe⁴, Charlotte Hodgkin⁴, Elisa Barter⁵, Paul Ridley⁶, Rita Ng⁶, Suzanne Miller⁷, Adela Dann⁸, Victoria Licence⁸, Hayley Webb⁹, Li Tee Tan⁷, Margaret Daly⁹, Sarah Ayers⁵, Barnaby Rufford⁶, Helena Earl¹⁰, Christine Parkinson¹¹, Timothy Duncan¹², Mercedes Jimenez-Linan¹³, Gurdeep S Sagoo¹⁴, Stephen Abbs¹⁵, Nicholas Hulbert-Williams¹⁶, Paul Pharoah¹⁷, Robin Crawford¹¹, James D Brenton¹⁸, Marc Tischkowitz¹

Affiliations

¹ Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, Cambridgeshire, UK East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK.
² East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK.
³ PHG Foundation, Cambridge, UK.
⁴ Cambridge Cancer Trials Centre, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK.
⁵ Department of Oncology, Peterborough and Stamford Hospitals NHS Foundation Trust, Peterborough, Peterborough, UK.
⁶ Cancer Services, The Ipswich Hospital NHS Trust, Ipswich, Suffolk, UK.
⁷ Clinical Cancer Services, Hinchingbrooke Health Care NHS Trust, Huntingdon, Cambridgeshire, UK.
⁸ Cancer Research Team, Norfolk and Norwich University Hospitals NHS Foundation Trust, Norwich, Norfolk, UK Department of Obstetrics and Gynaecology, Norfolk and Norwich University Hospitals NHS Foundation Trust, Norwich, Norfolk, UK.
⁹ Department of Oncology, The Queen Elizabeth Hospital King's Lynn NHS Foundation Trust, King's Lynn, UK.
¹⁰ Department of Oncology, University of Cambridge, NIHR Cambridge Biomedical Research Centre, Cambridge, Cambridgeshire, UK.
¹¹ Cancer Services, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK.
¹² Department of Obstetrics and Gynaecology, Norfolk and Norwich University Hospitals NHS Foundation Trust, Norwich, Norfolk, UK.
¹³ Department of Pathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK.
¹⁴ PHG Foundation, Cambridge, UK Academic Unit of Health Economics, Leeds Institute of Health Sciences, University of Leeds, Leeds, UK.
¹⁵ Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, Cambridgeshire, UK.
¹⁶ Department of Psychology, University of Chester, Chester, Cheshire West and Chester, UK.
¹⁷ Department of Public Health and Primary Care, University of Cambridge, Cambridge, Cambridgeshire, UK.
¹⁸ Cancer Services, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK Cancer Research UK Cambridge Institute, Cambridge, Cambridgeshire, UK.

PMID: 27208206
PMCID: PMC5099175
DOI: 10.1136/jmedgenet-2016-103902

New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study

Inga Plaskocinska et al. J Med Genet. 2016 Oct.

. 2016 Oct;53(10):655-61.

doi: 10.1136/jmedgenet-2016-103902. Epub 2016 May 12.

Authors

Affiliations

¹ Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, Cambridgeshire, UK East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK.
² East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK.
³ PHG Foundation, Cambridge, UK.
⁴ Cambridge Cancer Trials Centre, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK.
⁵ Department of Oncology, Peterborough and Stamford Hospitals NHS Foundation Trust, Peterborough, Peterborough, UK.
⁶ Cancer Services, The Ipswich Hospital NHS Trust, Ipswich, Suffolk, UK.
⁷ Clinical Cancer Services, Hinchingbrooke Health Care NHS Trust, Huntingdon, Cambridgeshire, UK.
⁸ Cancer Research Team, Norfolk and Norwich University Hospitals NHS Foundation Trust, Norwich, Norfolk, UK Department of Obstetrics and Gynaecology, Norfolk and Norwich University Hospitals NHS Foundation Trust, Norwich, Norfolk, UK.
⁹ Department of Oncology, The Queen Elizabeth Hospital King's Lynn NHS Foundation Trust, King's Lynn, UK.
¹⁰ Department of Oncology, University of Cambridge, NIHR Cambridge Biomedical Research Centre, Cambridge, Cambridgeshire, UK.
¹¹ Cancer Services, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK.
¹² Department of Obstetrics and Gynaecology, Norfolk and Norwich University Hospitals NHS Foundation Trust, Norwich, Norfolk, UK.
¹³ Department of Pathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK.
¹⁴ PHG Foundation, Cambridge, UK Academic Unit of Health Economics, Leeds Institute of Health Sciences, University of Leeds, Leeds, UK.
¹⁵ Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, Cambridgeshire, UK.
¹⁶ Department of Psychology, University of Chester, Chester, Cheshire West and Chester, UK.
¹⁷ Department of Public Health and Primary Care, University of Cambridge, Cambridge, Cambridgeshire, UK.
¹⁸ Cancer Services, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire, UK Cancer Research UK Cambridge Institute, Cambridge, Cambridgeshire, UK.

PMID: 27208206
PMCID: PMC5099175
DOI: 10.1136/jmedgenet-2016-103902

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.

Keywords: Clinical genetics; Genetic screening/counselling; Obstetrics and Gynaecology.

Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

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Figures

**Figure 1**
The location of hospitals in the Anglia region and number of patients recruited at each site.

**Figure 2**
The Genetic Testing in Epithelial Ovarian Cancer (GTEOC) protocol. VUS, variants of unknown significance.

**Figure 3**
Models of service delivery for genetic testing. DGH, district general hospital; GTEOC, Genetic Testing in Epithelial Ovarian Cancer study.

See this image and copyright information in PMC

References

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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

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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

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