OBSOLETE: Familial ovarian cancer

Familial ovarian cancer (Orphanet code 213517) is an obsolete disease classification that was previously used to describe hereditary predisposition to ovarian cancer occurring in multiple members of the same family. This entry has been retired from active use in Orphanet because the understanding of hereditary ovarian cancer has evolved significantly. Cases previously grouped under this term are now more precisely classified under specific genetic syndromes, most notably Hereditary Breast and Ovarian Cancer syndrome (HBOC), which is primarily associated with pathogenic variants in the BRCA1 and BRCA2 genes, and Lynch syndrome (hereditary nonpolyposis colorectal cancer syndrome), associated with mismatch repair gene mutations (MLH1, MSH2, MSH6, PMS2). Other genes such as RAD51C, RAD51D, and BRIP1 have also been identified as moderate-penetrance ovarian cancer susceptibility genes. Patients with hereditary ovarian cancer typically present in adulthood with epithelial ovarian carcinoma, often of the high-grade serous subtype. Symptoms may include abdominal bloating, pelvic pain, difficulty eating or feeling full quickly, and urinary frequency. Because this specific Orphanet entry is obsolete, patients and clinicians are directed to the more specific disease entities that now encompass hereditary ovarian cancer syndromes. Management of hereditary ovarian cancer includes enhanced surveillance, risk-reducing salpingo-oophorectomy, and targeted therapies such as PARP inhibitors (e.g., olaparib, niraparib) for BRCA-associated cancers. Genetic counseling and testing are essential components of care for families with a history of ovarian cancer.

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