Long-term effects of risk-reducing salpingo-oophorectomy in BRCA1/2 germline pathogenic variant carriers

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Promotion A. Stuursma

This dissertation of Anniek Stuursma focuses on women with a hereditary increased risk of fallopian tube/ovarian cancer due to a BRCA1/2 gene mutation. These women are advised to have their fallopian tubes and ovaries removed at a young age (from the age of 35) to prevent cancer. The laparoscopic surgery is called a ‘risk-reducing salpingo-oophorectomy’ (RRSO) and results in acute menopause. We investigated the consequences of RRSO and the effects of treatment of menopausal symptoms.

RRSO lowers the risk of tubal/ovarian cancer and reduces fear of cancer. However, the resulting menopausal symptoms are severe and long-lasting, specifically the sexual symptoms. Our research shows that the effects of psychological treatment and hormone replacement therapy on menopausal symptoms are insufficiently investigated.

In addition, we did not find evidence for a lowering of breast cancer risk after RRSO, which was previously thought to be the case. The primary goal of RRSO therefore remains to reduce the risk of tubal/ovarian cancer.

Furthermore, we investigated whether women with a BRCA1/2 gene mutation are more likely to develop other types of cancer (in addition to breast and tubal/ovarian cancer). This may be the case, however larger studies are needed.

Finally, we investigated if women who had RRSO at premenopausal age have an increased risk of sarcopenia. Sarcopenia is a condition in which muscle mass and muscle strength decrease, partly caused by decreased levels of the female sex hormone oestrogen. Although 1 in 6 women had a lower muscle mass (with normal muscle strength), none of the women had sarcopenia.