EP3561075A1 — Detecting mutations in tumour biopsies and cell-free samples

USPTO Abstract

The invention provides a method for detecting one or more mutations or genetic variations in a blood, serum, or plasma sample of a subject having cancer or suspected of having cancer, the method comprising: identifying a plurality of mutations or genetic variations in a tumor sample of the subject by whole exome sequencing; collecting a blood, serum, or plasma sample from the subject, and isolating cell-free DNA from the blood, serum, plasma, or tumor sample; amplifying a plurality of loci corresponding to the mutations or genetic variations from the cell-free DNA to obtain amplicons; sequencing the amplicons to obtain sequence reads; and detecting one or more of the mutations or genetic variations present in the cell-free DNA from the sequence reads; optionally wherein the cell-free DNA comprises circulating tumor DNA.