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

Cristiana Roggia,Sorin Armeanu-Ebinger,Axel Gschwind,Olga Seibel-Kelemen, Sonja Hertler,Ulrike Faust,Alexandra Liebmann,Tobias B. Haack,Manuela Neumann,Irina Bonzheim,Andrea Forschner,Hans-Georg Kopp,Franziska Herster,Andreas Hartkopf,Michael Bitzer,Nisar P. Malek,Ines B. Brecht,Kristina Ruhm,Yvonne Möller,Hubert Löwenheim

European Journal of Cancer（2022）

Cited 0|Views60
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Abstract
•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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Key words
Next-generation sequencing,Tumour–normal testing,Precision oncology,Personalised medicine,Cancer predisposition syndrome
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