EpiFemGen (Epigenetics of Female Malignancies with Genetic Predisposition): This element of the EpiFem programme involves the study of hormonal, genetic and epigenetic changes in cells and body fluids of women who are known to be genetically predisposed to breast, ovarian and womb/uterine cancers. As per the EPIFEMPRO programme, EPIFEMGEN will entail the epigenetic analysis of tissue specific collections including cervical cells, buccal cells, and blood samples from which serum and distinct white blood cell types will be derived.
Women who carry mutations on the BRCA 1 and 2 genes are already well known to have a much increased risk of both ovarian and breast cancer. A woman with a BRCA mutation has up to an 85% risk for breast cancer and 40% risk for ovarian cancer in their lifetime. Whilst such genetic predisposition is well define and understood we plan to investigate the impact of these mutations on epigenetic and hormonal regulation in order to define any defects in the ‘systems’ biology of affected women. We envisage that the increased knowledge generated from the EPIFEMGEN programme will fuel development of novel interventions for high-risk women, or techniques to detect cancers earlier, when they are easier to treat. The programme may also offer some insight into cancer development that may help prevent cancer in lower risk women.
The outcome of EpiFemGen will inform and initiate a clinical trial which will test whether rectifying the hormonal milieu in these women will ‘normalise’ the epigenome to prevent cancer development without the need to surgically resect organs including the ovaries, fallopian tubes and breasts.
Page last modified on 08 jul 13 11:41