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15-12-2015 | Gynecologic cancers | Article

UK BRCA mutation testing in patients with ovarian cancer

Angela George


Despite the increasing clinical importance of germline BRCA mutation status in managing women with ovarian cancer, few patients are currently being tested. The traditional means of selecting patients for BRCA mutation testing using restrictive criteria will miss many women with a mutation. To expand access to testing and streamline the testing process, several centres in the UK have been developing new models for BRCA testing. Trials with these integrated models involving closer collaborations between genetics and oncology services are now under way. In addition to testing for BRCA mutations, there is also increasing interest in testing for other genes associated with a predisposition to ovarian cancer. Advances in next-generation sequencing technology have resulted in the development of comprehensive genetic testing panels for use in the research and diagnostic settings. Interest is also increasing in expanding testing for somatic mutations in ovarian cancer, particularly for genes such as BRCA1 and BRCA2, whereby mutations may allow more patients to benefit from targeted agents, including poly(ADP-ribose) polymerase inhibitors. In this review, the issues of who should be offered testing, how testing could be delivered, when testing should occur and the technology and costs associated with genetic testing are addressed.

Br J Cancer 2015; 113 Suppl 1: S17-21. doi:10.1038/bjc.2015.396

KeywordsBRCA mutation; ovarian cancer; guidelines; BRCA1; BRCA2; BRCA testing

The decisions about who should undertake testing for germline BRCA1 and BRCA2 mutations, as well as when and how it should be carried out, are becoming increasingly important for ovarian cancer patients in the UK. Over the last few years, greater public awareness of the genetic component of breast and ovarian cancer has resulted in increasing patient demand for testing. This, combined with an expanding range of clinical implications for ovarian cancer patients found to carry a BRCA1 or BRCA2 mutation, has presented a central role for genetic testing. Recent studies have suggested that approximately 15% of all ovarian cancer patients harbour a germline mutation in BRCA1 and BRCA2, few of whom are currently being offered testing (Pal et al, 2005; Walsh et al, 2011; Zhang et al, 2011; Alsop et al, 2012).

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