June 27, 2025- Little is known about what causes ovarian cancer, and there is no way to detect it early yet. About 75% of the time when someone is diagnosed with ovarian cancer, it has already progressed to stage 3 or stage 4, which means it has spread to other parts of the body. Mayo Clinic physicians, researchers and patients had been working together to learn more about this devastating disease when a 22-year-old patient, who has two rare genetic conditions that dramatically elevate lifetime cancer risk, came to Mayo Clinic.
The patient carries a hereditary BRCA2 mutation, which is one of the genes that causes hereditary breast and ovarian cancer (HBOC) syndrome, and a hereditary TP53 mutation, which causes Li-Fraumeni syndrome.
At Mayo Clinic, she was diagnosed with breast cancer. Imaging also revealed she had an ovarian cyst. Although the cyst was benign, she chose to have a mastectomy and hysterectomy with removal of her ovaries and fallopian tubes, a procedure called a bilateral salpingo-oophorectomy, because of her elevated cancer risk. Upon further examination, her Mayo Clinic physician and research team detected early, hidden changes in the cells lining her fallopian tubes, revealing signals that may point to the first signs of ovarian cancer before symptoms or visible lesions appear.
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