Homologous Recombination Abnormalities Associated With BRCA1/2 Mutations as Predicted by Machine Learning of Targeted Next-Generation Sequencing Data.

Maher Albitar,Hong Zhang,Andrew Pecora,Stanley Waintraub,Deena Graham,Mira Hellmann,Donna McNamara,Ahmad Charifa,Ivan De Dios,Wanlong Ma,Andre Goy

Breast cancer : basic and clinical research（2023）

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摘要

These data demonstrate that CNA when combined with ML can reliably predict the presence of level HRD with high specificity. Using mutant cases as gold standard, this ML can be used to predict HRD in cancers with mutations in other HRR genes as well as in WT tumors.

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关键词

Homologous recombination deficiency, BRCA1, BRCA2, double-strand break, copy number variation, next-generation sequencing, machine learning, prediction, PARP inhibitors, response

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