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 Inga Plaskocinska
A1 Hannah Shipman
A1 James Drummond
A1 Edward Thompson
A1 Vanessa Buchanan
A1 Barbara Newcombe
A1 Charlotte Hodgkin
A1 Elisa Barter
A1 Paul Ridley
A1 Rita Ng
A1 Suzanne Miller
A1 Adela Dann
A1 Victoria Licence
A1 Hayley Webb
A1 Li Tee Tan
A1 Margaret Daly
A1 Sarah Ayers
A1 Barnaby Rufford
A1 Helena Earl
A1 Christine Parkinson
A1 Timothy Duncan
A1 Mercedes Jimenez-Linan
A1 Gurdeep S Sagoo
A1 Stephen Abbs
A1 Nicholas Hulbert-Williams
A1 Paul Pharoah
A1 Robin Crawford
A1 James D Brenton
A1 Marc Tischkowitz
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.