Germline testing, access to genetic counseling, and treatment implications in advanced breast cancer

Metastatic breast cancer refers to the spread of cancer cells to distant parts of the body. Metastatic cells spread via the lymphatics or vascular system to form metastatic lesions, also called secondary tumors. Most cases are associated with mutations in the BRCA1 and BRCA2 genes. These defective genes pass from generation to generation. Germline testing helps in screening patients with a positive family history, thus aiding in protection from metastasis and helping in targeted therapy. The physician should offer genetic counseling to patients with a positive history of breast cancer. Treatment strategies include chemotherapy, hormonal therapy, radiotherapy, and immunotherapy. Surgical options include breast conservation surgeries and mastectomy, which is followed by breast reconstruction surgery. Palliative therapy includes control of symptoms and pain management. Supportive services such as counseling, support groups, and integrative therapy could assist patients and their families in overcoming emotional, social and spiritual needs. Besides treatment, clinical trials could enhance cancer research and lead to effective treatment.