Breast cancer in a teenage girl with BRCA mutation: A case report from a low middle-income country

INTRODUCTION: A staggering majority of pediatric breast masses are benign (mostly fibroadenoma) and so a biopsy is not readily performed as it can potentially lead to a future breast disfigurement. However, this should not be standard practice as this can lead to a delayed diagnosis, and hence, the treatment of pediatric breast cancer (BC); this was also seen in our patient's scenario. CASE HISTORY: Here, we report the case of the youngest known breast cancer patient in Pakistan, a 15-year-old girl. The right-sided breast lump which was diagnosed clinically as a fibroadenoma later turned out to be stage IIb pT3N0M0 metaplastic breast carcinoma with BRCA1 positivity and mutations in SMARCA4. Being young and unmarried, the patient and her family decided to opt for breast-conserving surgery with high-risk surveillance for breast and ovaries. DISCUSSION: We believe that prophylactic surgeries can be delayed with strict surveillance and thorough counseling. As pediatric BC is linked to a less favorable prognosis, every young patient diagnosed with breast cancer and their family should undergo genetic testing. BC management should be handled by specialists in the field and doctors should be trained for initial diagnostics and timely referral of patients. CONCLUSION: It is important to improve our understanding of genetic predisposition and testing in lower-middle-income countries. Considering the changing global trends, we suggest that the utilization of genetic services is direly needed to improve preventative care for at-risk individuals with breast and other cancers.