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A BRCA2 germline mutation and high expression of immune checkpoints in a TNBC patient

9 Oct 2023

Abstract excerpt

Triple-negative breast cancer (TNBC) is the most aggressive subtype of mammary carcinoma. Here, we describe a case of an 81-year-old female diagnosed with ductal triple negative breast cancer with a germline pathogenic variant in BReast CAncer gene2 (BRCA2). Genetic testing also revealed the presence of four somatic mutations in the ephrin type-A receptor 3 (EphA3), TP53, BRCA1-associated protein (BAP1), and MYB...

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PMID: 37813891
DOI: 10.1038/s41420-023-01651-3

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