Hereditary site-specific ovarian cancer syndrome

Hereditary site-specific ovarian cancer syndrome (also known as hereditary ovarian cancer syndrome or familial ovarian cancer) is a genetic predisposition syndrome characterized by an increased risk of developing epithelial ovarian cancer, including fallopian tube and primary peritoneal cancers, without a significantly elevated risk of breast cancer or other cancers typically seen in broader hereditary breast-ovarian cancer syndromes. This syndrome primarily affects the female reproductive system, specifically the ovaries, fallopian tubes, and peritoneum. It is most commonly associated with pathogenic variants in the BRCA1 and BRCA2 genes, though in some families the underlying genetic cause may involve other susceptibility genes or remain unidentified. Clinical features include the development of ovarian cancer, often of the high-grade serous histological subtype, typically presenting in adulthood, frequently between the ages of 40 and 60 years. Symptoms of ovarian cancer may include abdominal bloating, pelvic or abdominal pain, difficulty eating or feeling full quickly, and urinary frequency or urgency. Because ovarian cancer often presents at an advanced stage due to the lack of effective early screening methods, outcomes can be challenging. Management of individuals with this syndrome focuses on risk reduction and surveillance. Risk-reducing bilateral salpingo-oophorectomy (surgical removal of the ovaries and fallopian tubes) is the most effective preventive strategy and is generally recommended after completion of childbearing, typically between ages 35 and 45 depending on the specific gene involved. Genetic counseling is essential for affected families to identify at-risk individuals. When ovarian cancer develops, treatment typically involves cytoreductive surgery and platinum-based chemotherapy. PARP inhibitors (such as olaparib, niraparib, and rucaparib) have become an important part of the treatment landscape, particularly for patients with BRCA-associated tumors, offering improved progression-free survival.

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