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Mainstreamed genetic testing for women with ovarian cancer: first-year experience

Rahman, B; Lanceley, A; Kristeleit, R; Ledermann, J; Lockley, M; McCormack, M; Mould, T; (2019) Mainstreamed genetic testing for women with ovarian cancer: first-year experience. Journal of Medical Genetics , 56 (3) pp. 195-198. 10.1136/jmedgenet-2017-105140. Green open access

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Abstract

BACKGROUND: Ovarian cancer is the fifth most common cause of cancer death for women in the UK. Up to 18% of cases can be attributed to germline mutations in BRCA1 and BRCA2 genes. Identifying patients who carry a BRCA mutation provides important information about potential response to treatment and eligibility for therapies such as PARP-inhibitors. Implementation of systematic genetic testing of ovarian cancer patients via oncology clinics (mainstreamed genetic testing, MGT) is increasing. METHODS AND RESULTS: This service evaluation reports on the first year of MGT at a tertiary oncology centre in London, UK. In total, 122 patients with high grade non-mucinous ovarian cancer underwent BRCA germline testing via MGT. Eighteen patients (14.8%) were found to carry a deleterious BRCA1/2 mutation. Four BRCA carriers did not meet previous criteria for genetic testing and would have been missed. Six BRCA carriers accessed PARP-inhibitors post-MGT. Only 22% of patients with a VUS were referred to clinical genetics services. CONCLUSIONS: MGT appears to be a feasible way of providing BRCA testing to ovarian cancer patients. Greater clarity of how oncologists use VUS results is needed, as well as further research on psychosocial implications of MGT for ovarian cancer patients which may include somatic testing in the future.

Type: Article
Title: Mainstreamed genetic testing for women with ovarian cancer: first-year experience
Open access status: An open access version is available from UCL Discovery
DOI: 10.1136/jmedgenet-2017-105140
Publisher version: http://doi.org/10.1136/jmedgenet-2017-105140
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > CRUK Cancer Trials Centre
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Oncology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL EGA Institute for Womens Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL EGA Institute for Womens Health > Womens Cancer
URI: https://discovery.ucl.ac.uk/id/eprint/10044326
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