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KMID : 1134120210240050474
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Journal of Breast Cancer
2021 Volume.24 No. 5 p.474 ~ p.480
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BRCA1 Reversion Mutation Confers Resistance to Olaparib and Camrelizumab in a Patient with Breast Cancer Liver Metastasis
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Pan Jia-Ni
Lei Lei
Ye Wei-Wu
Wang Xiao-Jia
Cao Wen-Ming
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Abstract
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Reversion mutations are associated with clinical resistance to poly(ADP-ribose) polymerase inhibitors (PARPi). Here, we describe the detection of a BRCA1 reversion mutation in a 39-year-old woman with metastatic breast cancer harboring a heterozygous germline BRCA1 exons 7?8 deletion who received PARPi olaparib combined with immune checkpoint inhibitor camrelizumab as third-line therapy. During progression from the olaparib and camrelizumab combination therapy, we identified via genomic sequencing a novel 7-base pair somatic deletion in BRCA1 (c.617_623delACAAATC). Sequence analyses indicated that this mutation realigned the reading frame of BRCA1, which potentially led to the reversal of its normal function and conferred resistance to PARPi.
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KEYWORD
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Breast neoplasms, Poly(ADP-ribose) polymerase inhibitors, High-throughput nucleotide sequencing, Circulating tumor DNA
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