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KMID : 0620920230550071451
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Experimental & Molecular Medicine
2023 Volume.55 No. 7 p.1451 ~ p.1461
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Genomic characteristics of triple negative apocrine carcinoma: a comparison to triple negative breast cancer
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Kim Ji-Yeon
Park Sa-Bin
Cho Eun-Yoon
Lee Jeong-Eon
Jung Hae-Hyun
Chae Byung-Joo
Kim Seok-Won
Nam Seok-Jin
Cho Soo-Youn
Park Yeon-Hee
Ahn Jin-Seok
Lee Se-Min
Im Young-Hyuck
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Abstract
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Apocrine carcinoma is a rare breast cancer subtype. As such, the genomic characteristics of apocrine carcinoma with triple negative immunohistochemical results (TNAC), which has been treated as triple negative breast cancer (TNBC), have not been revealed. In this study, we evaluated the genomic characteristics of TNAC compared to TNBC with low Ki-67 (LK-TNBC). In the genetic analysis of 73 TNACs and 32 LK-TNBCs, the most frequently mutated driver gene in TNAC was TP53 (16/56, 28.6%), followed by PIK3CA (9/56, 16.1%), ZNF717 (8/56, 14.3%), and PIK3R1 (6/56, 10.71%). Mutational signature analysis showed enrichment of defective DNA mismatch repair (MMR)-related signatures (SBS6 and SBS21) and the SBS5 signature in TNAC, whereas an APOBEC activity-associated mutational signature (SBS13) was more prominent in LK-TNBC (Student’s t test, p?
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KEYWORD
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Genetics research, Translational research, Breast cancer, Cancer genomics
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