Ovarian cancer and BRCA1/2 pathogenic variants: from
optimized detection to the health impact of risk-reducing
surgery
Ovarian cancer and BRCAI/2 pathogenic variants
Tubal/ovarian cancer is a deadly disease. A proportion of these cancers is caused by mutations in the BRCA1 or BRCA2 genes. Identifying these genetic alterations is important, as it can improve treatment and, in the case of inherited mutations, give family members the opportunity to take preventive measures.
This thesis addresses two main questions. First, how can we optimize the detection of BRCA1/2 mutations? In the Netherlands, a tumor-first approach has been introduced recently, in which tumor tissue is tested first. This strategy was developed to detect mutations in an efficient and inclusive manner. However, this thesis shows that in practice not every patient is tested. Notably, older patients and those with lower socioeconomic status are less likely to complete the testing pathway. In addition, disease characteristics (such as tumor type) and treatment characteristics (such as undergoing surgery) play a major role.
Second, this thesis examines the consequences of preventive surgery in women with an increased hereditary risk. Removal of the ovaries and fallopian tubes substantially reduces cancer risk, but also induces early menopause. This can lead to long-term symptoms, particularly affecting sexual and psychosocial well-being. Our studies show that there is still limited research on effective treatments for these symptoms.
This thesis shows that targeted action is needed: all patients should be given the opportunity to be tested, with extra attention for specific groups. In addition, more research is needed to reduce symptoms after preventive surgery. Only then can we prevent cancer, improve treatment, and improve quality of life.