Mutations in BRCA1/BRCA2 are found in 15.5% of women with serous or endometrioid Epithelial Ovarian Cancer (EOC) but at present genetic testing is not systematically offered to this patient group and many women with inherited mutations are being missed. Recently several other EOC predisposing genes have been identified, although these are much less frequent than BRCA1/BRCA2. The barrier to implementing comprehensive clinical testing has been the cost of sequencing and concerns about acceptability, and this project aims to address these issues by evaluating the application of NGS technology to mainstream clinical practice. Identifying a BRCA1/BRCA2 mutation in a woman with ovarian cancer not only provides important information regarding treatment response and overall prognosis, but is crucial for cancer prevention in other family relatives. There will therefore be direct benefits to study participants and their relatives and ultimately the expectation is that the methodology proposed here will be used routinely in clinical practice in Cambridge and other centres thereby allowing collection of further, larger datasets to refine the results of this study.
- Is it feasible, acceptable and cost-effective to screen all newly diagnosed women with EOC?
- Is it useful to test for the rarer genes (MLH1, MSH2, MSH6, PMS2, RAD51C, RAD51D and BRIP1) that predispose to EOC in addition to BRCA1/BRCA2?
- Can we improve our knowledge of the impact of inherited BRCA1/BRCA2 mutations on response to treatments for EOC?
The GTEOC study has closed the recruitment on the 1 July 2015. We have recruited 233 patients throughout East Anglia Region.