BRCA Testing in Breast Cancer: Who Needs It and What Positive Results Mean

For a young patient with early, well-localised disease, breast conservation surgery is advisable over mastectomy: a wide excision with lymph node dissection or sentinel biopsy, followed by pathology review. If the oestrogen receptor is positive on the final specimen, tamoxifen is started after surgery, and chemotherapy is added if indicated by the pathology. Starting tamoxifen before surgery is not advisable.

Neoadjuvant chemotherapy should be started before referral in two situations: triple-negative breast cancer, and locally advanced disease, meaning a tumour over 5 cm, ulceration, peau d'orange skin change, satellite nodules, or bulky or supraclavicular nodes. In locally advanced disease, surgery follows after around four to four and a half months of chemotherapy. In genuinely advanced or metastatic disease, treatment is systemic only, chemotherapy or hormone therapy, with no surgery. For anything in between, it is always better to discuss the specific case jointly before deciding independently whether and when to start treatment.

No, a BRCA1 and BRCA2 test should be done first. Indications for testing are all triple-negative breast cancer, a strong first-degree family history (a sister, mother, or maternal or paternal aunt with breast cancer), and any history of male breast cancer in the family, which alone is enough to warrant testing. If the BRCA test comes back positive, mastectomy of the affected breast should be combined with prophylactic mastectomy of the opposite side. If BRCA testing isn't available locally, it can be arranged through Dr. Jain's centre.

There is no single definitive treatment; breast cancer, like all solid tumours, requires multimodal treatment. Chemotherapy alone, radiotherapy alone, or hormone therapy alone cannot cure it. Surgery has to be part of the treatment plan for a cure, combined with hormone therapy, chemotherapy or radiation as indicated, though surgery alone is occasionally sufficient in very select cases.

It's mandatory, and Dr. Jain considers it roughly 95% of overall cancer management. Physical rehabilitation covers arm exercises and lifelong protection of the affected arm, no rings, blood pressure cuffs or needles on that side. Psychological rehabilitation matters just as much, since patients carry real emotional weight after a cancer diagnosis, and in some settings social rehabilitation is needed too, since patients can lose their jobs, or in some communities face marital breakdown, because of the diagnosis.

All patients with triple-negative breast cancer, patients with a strong first-degree family history of breast cancer, and anyone with a family history of male breast cancer, which alone warrants testing.

The surgical plan shifts to mastectomy of the affected breast combined with prophylactic mastectomy of the opposite breast, given the substantially elevated risk of a second primary cancer.