Adolescent Triple-negative Breast Cancer with Germline Mutation of both BRCA1 and TP53: A Case Report

Almost 5–10% of breast cancer cases have inherited mutations. TP53 tumor suppressor gene is frequently mutated in human malignancies, including breast cancer. In addition, BRCA1 and BRCA 2 are the most frequently mutated genes in breast cancer. Nearly 80% of BRCA1 mutation carriers are diagnosed with breast cancer at a young age before menopause. There are currently no report of early onset breast cancer with both BRCA1 and TP53 germline mutations. Here, we report the case of a 14-years-old female diagnosed with triple-negative breast cancer (TNBC) with a family history of malignant tumors. The cancer metastasized to multiple lymph nodes 1 year and 4 months after surgery, and the progression-free survival (PFS) after subsequent chemotherapy and surgery has been over 2 years and 9 months. The patient’s white blood cells were screened against a panel of 11 cancer-related genes, and both germline mutations of BRCA1 and TP53 were identified. Genetic tests on the patient’s family members revealed the same BRCA1 mutation in her father and brother but no mutation was detected in other members. The case indicates that a multiple gene panel screening should be performed for the family members of breast cancer patients with an early age of onset and a family history of cancer.