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Multiple Targets, Germline BRCA1 Mutation and HRD in a Lung Cancer Patient: Molecular Considerations and Treatment Decision-Making.

TUMORI JOURNAL(2024)

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摘要
INTRODUCTION:Several biomarkers are currently available to address targeted treatments in cancer patients, with lung malignancies representing one of the best examples.CASE DESCRIPTION:We report the case of a patient affected by advanced non-small cell lung cancer with an uncommon histology and a complex biology. The use of a large next-generation sequencing (NGS) NGS panel allowed us to identify an extremely rare BRAF mutation (V600Q), a MET amplification, a high tumor mutational burden, a germline pathogenetic BRCA1 mutation and a homologous recombination deficiency through RAD51 assay. The treatment decision was driven by the abundance of molecular information.CONCLUSIONS:This case highlights that an attentive and critical evaluation of molecular reports is key for the tailoring of treatment algorithms at the patient-level scale.
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关键词
precision medicine,lung cancer,BRCA mutation,HRD,RAD51
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