Three Cases of Breast Cancer in a Family with Hereditary Breast and Ovarian Cancer Syndrome Undergoing Risk-reducing Salpingo-oophorectomy

Abstract

We report three cases of BRCA2-related breast cancer within a family with hereditary breast and ovarian cancer syndrome (HBOC), in which risk-reducing salpingo-oophorectomy (RRSO) was performed. Two out of three sisters, including the proband, developed breast cancer, one had colon cancer, and their paternal cousin also developed metachronous bilateral breast cancer. The cousin's father (paternal uncle) was diagnosed with prostate cancer and his sister (paternal aunt), with ovarian cancer. Because of a family history suggestive of HBOC, the proband was subjected to BRCA genetic testing, revealing a deleterious germline mutation in BRCA2. The same deleterious mutation was confirmed in the sister and the cousin diagnosed with breast cancer. All three cases were luminal cancer and received mastectomy and endocrine therapy. As these three cases already had a genetic diagnosis of HBOC, RRSO was performed concomitantly with the surgical therapy for benign lesions in the uterus and was followed by endocrine therapy.