The epidemiological study incorporates:
- A case-control study (comparing the prevalence of cancer in affected and unaffected mutation carriers, and non-carriers provides data to establish risk)
- A cohort study (following mutation carriers, from the time of their recruitment, prospectively for cancer incidence 5 years +; these cancers might be self-reported at follow up questionnaires or with flagging obtained through the NHS Central Registry
- From 2020 an additional study of current and new eligible recruits, primarily female carriers at risk of ovarian and/or breast cancer, for initial evaluation of new early cancer detection strategies to involve-
- Collection of annual follow up bloods to identify potential blood markers for early breast and ovarian cancer
- Collection of serial cervical samples to evaluate the potential of early ovarian cancer markers -this will be a small group pilot study