Alterations in Homologous Recombination-Related Genes and Distinct Platinum Response in Metastatic Triple-Negative Breast Cancers: A Subgroup Analysis of the ProfiLER-01 Trial.

Journal of personalized medicine(2022)

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摘要
mutations in were detected in seven (13.5%) patients, while alterations in other HRR genes or hypermethylation in or were reported in 16 (30.7%) patients; furthermore, no alteration was found in the majority of patients ( = 29; 55.8%). Among 27 patients who received platinum-based chemotherapy, the disease control rate was 80%, 55% and 18% (groups A, B and C, respectively; = 0.049). Regarding group B, patients with disease control exhibited mutations in , and the genes or methylation; Conclusion: mutations in HRR genes and epimutations in were associated with disease control through platinum-based chemotherapy. As such, apart from well-characterized alterations in , a more comprehensive evaluation of HRD should be considered in order to enlarge the selection of patients with mTNBC that could benefit from platinum-based chemotherapy.
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关键词
BRCA,DNA repair,HRR genes,TNBC,homologous recombination,platinum-based chemotherapy,triple-negative breast cancer
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