RT Journal Article
SR Electronic
T1 New paradigms for <em>BRCA1</em>/<em>BRCA2</em> testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 655
OP 661
DO 10.1136/jmedgenet-2016-103902
VO 53
IS 10
A1 Plaskocinska, Inga
A1 Shipman, Hannah
A1 Drummond, James
A1 Thompson, Edward
A1 Buchanan, Vanessa
A1 Newcombe, Barbara
A1 Hodgkin, Charlotte
A1 Barter, Elisa
A1 Ridley, Paul
A1 Ng, Rita
A1 Miller, Suzanne
A1 Dann, Adela
A1 Licence, Victoria
A1 Webb, Hayley
A1 Tan, Li Tee
A1 Daly, Margaret
A1 Ayers, Sarah
A1 Rufford, Barnaby
A1 Earl, Helena
A1 Parkinson, Christine
A1 Duncan, Timothy
A1 Jimenez-Linan, Mercedes
A1 Sagoo, Gurdeep S
A1 Abbs, Stephen
A1 Hulbert-Williams, Nicholas
A1 Pharoah, Paul
A1 Crawford, Robin
A1 Brenton, James D
A1 Tischkowitz, Marc
YR 2016
UL http://jmg.bmj.com/content/53/10/655.abstract
AB 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 &lt;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&lt;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.