Early detection of cancers can help to significantly improve prognosis of patients and reduce mortality. This is particularly pronounced for cancers that, despite advances in diagnostic procedures, are still only detected late, such as ovarian cancers. This type of cancer is often detected at advanced stages and as a result has a five-year survival rate of less than 40%.

Additionally, other cancer types, such as breast cancer, may be subject to “overdiagnosis” (i.e., identification of cancers, which will never develop malignancy and thus are not clinically relevant).

Previous work carried out during the EpiFemCare project, has contributed to more sensitive and early detection modalities for these two cancer types. We are now in the process of exploring the potential of cell-free DNA methylation to detect breast and ovarian cancers in women with a BRCA mutation, and in the general population, at an earlier stage.