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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
Plaskocinska, Inga Shipman, Hannah Drummond, James Thompson, Edward Buchanan, Vanessa Newcombe, Barbara Hodgkin, Charlotte Barter, Elisa Ridley, Paul Ng, Rita
Plaskocinska, Inga
Shipman, Hannah
Drummond, James
Thompson, Edward
Buchanan, Vanessa
Newcombe, Barbara
Hodgkin, Charlotte
Barter, Elisa
Ridley, Paul
Ng, Rita
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Editors
Other Contributors
EPub Date
Publication Date
2016-05-12
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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. The Genetic Testing in Epithelial Ovarian Cancer (GTEOC) Study explored the feasibility and acceptability of offering genetic testing to all women recently diagnosed with epithelial ovarian cancer (EOC).
Methods: From 1st July 2013 to 30th June 2015 women newly diagnosed with EOC were recruited through six sites in East Anglia, UK. Eligibility was irrespective of patient age and family history of cancer. The psychosocial arm of the study utilised 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 increases to 12% in unselected women <70 years (17/146) and 1% in unselected women >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<.001). Correlation tests indicated that whilst older age is a protective factor against any traumatic impacts of genetic testing, no significant correlation exists between age and distress outcomes.
Conclusion: 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.
Citation
Plaskocinska, I., et. al. (2016). New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer – results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) Study. Journal of Medical Genetics, 53(10), 655-61. DOI: 10.1136/ jmedgenet-2016-103902
Publisher
Journal
Journal of Medical Genetics
Research Unit
DOI
10.1136/jmedgenet-2016-103902
PubMed ID
PubMed Central ID
Type
Article
Language
en
Description
Series/Report no.
ISSN
0022-2593
EISSN
1468-6244