PMC8255550_01
Pathological information of the patient. H&E stain showed invasive ductal carcinoma (A). Immunohistochemistry results showed expression of Ki-67 (B), Topo II (C), and E-cadherin (D).
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The proband (III-1) is a 34-year-old woman diagnosed with triple-negative breast cancer (TNBC) (infiltrating ductal carcinoma, right breast, no lymph node metastasis, Ki-67 (maker of proliferation) [80%], topoisomerase (Topo) II [40%], ecadherin (ECAD) [+] [Figure 1], estrogen receptor (ER) [-], progesterone receptor (PR) [-], tumor protein (EC :2.7. 1.37) (P53) [-], human epidermal growth factor receptor 2 (HER2) [-]).
Pedigree of the patient. III-1 represents the proband in our case. Her grandmother died of OC. Her mother was diagnosed with BC & OC. Two of her aunts died of OC and EC & OC, respectively. BC, breast cancer. OC, ovarian cancer. EC, esophagus cancer.
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The patient III-20 underwent conventional radiotherapy after adjuvant chemotherapy due to left axillary lymph node metastasis (4/20). The pedigree of the affected family was shown in Figure 2.
Next-generation sequencing and Sanger sequencing analysis of the BRCA1 gene in the proband and her family members, respectively. Represent BRCA1 germline mutation of the proband. Identify BRCA1 germline mutation of the II-2, III-3, III-17, III-19, and III-20.
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The presence of the BRCA1 E1148Rfs*7 mutation was also identified in the peripheral blood samples of proband's five other family members (Figure 3).