Hereditary Ovarian Cancer and Germline Mutations: Review Article

Ovarian cancer is the most lethal gynecologic malignancy, nearly 80% of patients are diagnosed at advanced stage disease (III/IV). Different risk factors are associated with ovarian cancer Obesity, High fat diet, Hormone replacement therapy, and most importantly a family history of breast/ovarian cancer and/or colon cancer. Close relative with ovarian cancer increases a woman’s risk of developing ovarian cancer by ~3 times. Women with family history of ovarian cancer should consider regular clinical exams. Moreover, Women who carry BRCA1 or BRCA2 mutation are at a very high risk and surgical removal of the ovaries and fallopian tubes are recommended. Different types of mutations were found either BRCA1 or BRCA2ranging in size from 1bp (point mutation and/or frameshift mutations) up to hundreds or thousands of base pairs, such as Large genomic rearrangements (LRGs). Therefore, Identifying women with higher risk is essential for surveillance, surgical removal of the ovaries and for earlier diagnosis.

Keywords: Ovarian Cancer; BRCA1; BRCA2; LRGs.