Germline findings in patients with advanced malignancies screened with paired blood–tumour testing for personalised treatment approaches

European Journal of Cancer(2023)

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摘要
•Significant amount of relevant germline variants is detected by blood-tumour testing.•Carriers do not always fulfil clinical criteria for cancer predisposition.•Blood–Tumour testing identifies novel links between cancer predisposition genes and cancer types.•Family-specific screening strategies are required when cancer predisposition genes are found in atypical tumours.
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关键词
Next-generation sequencing,Tumour–normal testing,Precision oncology,Personalised medicine,Cancer predisposition syndrome
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