When tumour tissue is unavailable, cell-free DNA (cfDNA)can serve as a surrogate for genetic analyses. Because mutated alleles in cfDNA are usually below 1%, next-generation sequencing (NGS)must be narrowed to target only clinically relevant genes. In this proof-of-concept study, we developed a panel to use in ultra-deep sequencing to identify such mutations in cfDNA.

Development of a gene panel for next-generation sequencing of clinically relevant mutations in cell-free DNA from cancer patients / Malapelle, U., Mayo de Las Casas, C., Rocco, D., Garzon, M., Pisapia, P., Jordana Ariza, N., Russo, M., Sgariglia, R., DE LUCA, C., Pepe, F., Martinez Bueno, A., Morales Espinosa, D., González Cao, M., Karachaliou, N., Viteri Ramirez, S., Bellevicine, C., Molina Vila, M.A., Rosell, R., Troncone, G.. - In: BRITISH JOURNAL OF CANCER. - ISSN 0007-0920. - (2017). [10.1038/bjc.2017.8]

Development of a gene panel for next-generation sequencing of clinically relevant mutations in cell-free DNA from cancer patients

MALAPELLE, UMBERTO;Pisapia, Pasquale;RUSSO, MARIA;SGARIGLIA, ROBERTA;DE LUCA, CATERINA;PEPE, FRANCESCO;BELLEVICINE, CLAUDIO;TRONCONE, GIANCARLO
2017

Abstract

When tumour tissue is unavailable, cell-free DNA (cfDNA)can serve as a surrogate for genetic analyses. Because mutated alleles in cfDNA are usually below 1%, next-generation sequencing (NGS)must be narrowed to target only clinically relevant genes. In this proof-of-concept study, we developed a panel to use in ultra-deep sequencing to identify such mutations in cfDNA.
2017
Development of a gene panel for next-generation sequencing of clinically relevant mutations in cell-free DNA from cancer patients / Malapelle, U., Mayo de Las Casas, C., Rocco, D., Garzon, M., Pisapia, P., Jordana Ariza, N., Russo, M., Sgariglia, R., DE LUCA, C., Pepe, F., Martinez Bueno, A., Morales Espinosa, D., González Cao, M., Karachaliou, N., Viteri Ramirez, S., Bellevicine, C., Molina Vila, M.A., Rosell, R., Troncone, G.. - In: BRITISH JOURNAL OF CANCER. - ISSN 0007-0920. - (2017). [10.1038/bjc.2017.8]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/666079
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