Abstract
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.
Highlights
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
In the UK, there are no standard guidelines for testing patients with ovarian cancer for germline mutations of BRCA1/2, with practice varying by region
Guidelines do exist for patients with breast cancer, whereby the National Institute for Health and Care Excellence (NICE) recommends that all women with a 10% chance of harbouring a BRCA mutation should be offered testing, and testing should be considered down to a threshold of 5% (NICE, 2013)
Summary
Despite the increasing clinical importance of germline BRCA mutation status in managing women with ovarian cancer, few patients are currently being tested. It means that results can consistently be provided within a clinically useful timeframe, allowing their incorporation into treatment decisions, such as choice of chemotherapy or eligibility for trials The availability of this technology opens up opportunities to re-evaluate traditional means of selecting patients for testing, how well these criteria perform in differentiating between patients who should and should not be offered testing. A number of risk prediction models have been developed to estimate the risk of an individual, all of which require family history details on which to base risk assessments These models, such as BOADICEA or BRCAPRO, can be cumbersome to use, in a busy clinic (Fischer et al, 2013).
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
