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

Journal of Medical Genetics - Tập 56 Số 3 - Trang 195-198 - 2019
Belinda Rahman1, Anne Lanceley1, Rebecca Kristeleit2, Jonathan A. Ledermann2, Michelle Lockley3,2, Mary McCormack2, Tim Mould2, Lucy Side4
1EGA Institute for Women’s Health, University College London, London, UK
2Gynaecological Oncology, University College London Hospitals NHS Foundation Trust, London, UK
3Barts Cancer Institute, Queen Mary University of London, London, UK
4Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, SO16 5YA, UK

Tóm tắt

BackgroundOvarian 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 BRCA2genes. Identifying patients who carry a BRCA mutation provides important information about potential response to treatment and eligibility for therapies such as poly ADP ribose polymerase (PARP) inhibitors. Implementation of systematic genetic testing of patients with ovarian cancer via oncology clinics (mainstreamed genetic testing, MGT) is increasing.Methods and resultsThis 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/BRCA2 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 variant of unknown significance (VUS) were referred to clinical genetics services.ConclusionsMGT appears to be a feasible way of providing BRCA testing to patients with ovarian cancer. Greater clarity of how oncologists use VUS results is needed, as well as further research on psychosocial implications of MGT for patients with ovarian cancer, which may include somatic testing in the future.

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Journal of Medical Genetics

Tập 56 Số 3

195-198

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