Genomics and hereditary cancer syndromes in women's health: a focus on gynaecological management

Hereditary or familial cancer syndromes are caused by inherited pathogenic variants in cancer susceptibility genes and are associated with an increased risk of developing malignancies occurring at an earlier age. BRCA-associated Hereditary Breast and Ovarian Cancer and Lynch Syndromes are the most common conditions encountered in gynaecology. Identification presents opportunities to prevent or reduce the risk of cancer, or to detect cancers at earlier stages with improved outcomes. When cancer does occur, there may be options for personalized therapeutic approaches. Cancer prevention invariably requires risk-reducing surgical treatment, which may result in irreversible loss of fertility and premature menopause; issues which must be addressed through a personalized management approach. Regular review with adjustments to plans are required as individuals pass through different reproductive life-stages. Comprehensive management requires a multi-professional approach including specialist genetics input, prevention of cancer by education, modification of risk factors and specific interventions, in addition to psychosocial support.