Breast Cancer in a Woman Carrying Both BRCA1 and BRCA2 Mutations

What happened, in summary

A premenopausal woman in her 30s found a lump in her right breast. Imaging showed a small suspicious mass, and biopsy confirmed invasive ductal carcinoma. There was no evidence of distant spread, and the cancer was classified as Stage I. The tumor was estrogen- and progesterone-receptor positive and HER2-negative.

Because she was young and had a strong family history of cancer, genetic testing was performed and found pathogenic variants in both BRCA1 and BRCA2. She underwent a right mastectomy with sentinel lymph node biopsy, and the sampled nodes were negative. A genomic recurrence test suggested benefit from chemotherapy. She chose to prioritize cancer treatment over infertility treatment and received epirubicin plus cyclophosphamide followed by paclitaxel. She then started tamoxifen with ovarian suppression.

Genetic counseling became an important part of her care. Testing later showed that her mother carried the same BRCA2 variant and her father carried the same BRCA1 variant. The patient was counseled about future cancer surveillance and possible risk-reducing surgery. At 17 months of follow-up, she remained free of breast-cancer recurrence.