Synchronous Ovarian and Breast Cancers with a Novel Variant inBRCA2 Gene: A Case Report

We report a case of a 52-year-old female with a family history of pancreatic and colon cancers who presented with a right breastmass positive for high-grade medullar carcinoma with triple-negative biomolecular profile. Further workup was performedfinding a left ovarian mass. The patient underwent laparotomy performing optimal cytoreduction on bilateral ovarian tumors;the pathology and immunohistochemistry confirmed bilateral ovary adenocarcinoma with positive peritoneal malignancy. Dueto her synchronic breast and ovarian cancers, a genetic profile was performed detecting a new pathogenic variant in the BRCA2gene: c.3606_3607del (p.Ser1203Cysfs). She was given chemotherapy with carboplatin and paclitaxel obtaining complete clinicalresponse. Regarding her breast cancer, she had a right modified radical mastectomy and prophylactic left mastectomy obtainingcomplete clinical response. This case presents with an unusual subtype and difficult histologic diagnosis of a synchronicmedullar breast cancer and ovary carcinoma associated with a new mutation of the BRCA2 gene.