BRCA1 Reversion Mutation Confers Resistance to Olaparib and Camrelizumab in a Patient with Breast Cancer Liver Metastasis

Jia-Ni Pan; Lei Lei; Wei-Wu Ye; Xiao-Jia Wang; Wen-Ming Cao

doi:10.4048/jbc.2021.24.e39

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자료유형: 학술저널

저자정보: Jia-Ni Pan (Department of Breast Medical Oncology Cancer Hospital of the University of Chinese Academy of Scien) Lei Lei (Department of Breast Medical Oncology Cancer Hospital of the University of Chinese Academy of Scien) Wei-Wu Ye (Department of Breast Medical Oncology Cancer Hospital of the University of Chinese Academy of Scien) Xiao-Jia Wang (Department of Breast Medical Oncology Cancer Hospital of the University of Chinese Academy of Scien) Wen-Ming Cao (Department of Breast Medical Oncology Cancer Hospital of the University of Chinese Academy of Scien)

저널정보: 한국유방암학회 Journal of Breast Cancer Journal of Breast Cancer Vol.24 No.5

발행연도: 2021.10

수록면: 474 - 480 (7page)

DOI: 10.4048/jbc.2021.24.e39

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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.

#Breast neoplasms #Poly(ADP-ribose) polymerase inhibitors #High-throughput nucleotide sequencing #Circulating tumor DNA

참고문헌 (16)

참고문헌 신청

Roy R / 2011 / BRCA1 and BRCA2 : different roles in a common pathway of genome protection / Nat Rev Cancer 12:68~78

Sakai W / 2008 / Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers / Nature 451:1116~1120

Edwards SL / 2008 / Resistance to therapy caused by intragenic deletion in BRCA2 / Nature 451:1111~1115

Wang Y / 2016 / The BRCA1-Δ11q alternative splice isoform bypasses germline mutations and promotes therapeutic resistance to PARP inhibition and cisplatin / Cancer Res 76:2778~2790

Pettitt SJ / 2020 / Clinical BRCA1/2 reversion analysis identifies hotspot mutations and predicted neoantigens associated with therapy resistance / Cancer Discov 10:1475~1488

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