Ovarian Cancer With Breast Metastasis and Two Pathogenic Variants of BRCA1 Gene

Abstract

Ovarian cancer is the second most common gynecologic cancer after uterine cancer in the United States. Ovarian cancer ranks sixth in cancer deaths among women, accounting for more deaths than other female reproductive system cancers. Breast metastasis in ovarian cancer is a rare presentation and predicts a poor prognosis and challenging management. Our case is a 42-year-old Chinese woman with high-grade serous ovarian carcinoma that presents with metastasis to the breast during the course of her illness. Genetic evaluation of the ovarian tumor showed two BRCA1 pathogenic variants. Germline pathogenic variant of c.2110_2111DelAA and a somatic variant of c.4071_4096+14del40. Our patient was offered different treatment regimens but showed progression of her disease. The low survival rate and high recurrence rate in ovarian cancer show that we still need to investigate our current approved treatments. Our report aims to shed light on the genetic evaluation of ovarian tumors and treatment options available in refractory cases of progressive ovarian cancer. Furthermore, we explain our investigational therapy regimen and the reasoning behind it.