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1. (WO2018197934) METHOD FOR SEARCHING AND IDENTIFYING A GENETIC CONDITION PRODROMAL OF THE ONSET OF SOLID TUMORS

Pub. No.:    WO/2018/197934    International Application No.:    PCT/IB2017/054231
Publication Date: Fri Nov 02 00:59:59 CET 2018 International Filing Date: Fri Jul 14 01:59:59 CEST 2017
IPC: C12Q 1/68
G06F 19/10
Applicants: BIOSCIENCE SERVICES S.R.L.
Inventors: MUCCI, Giuseppe
Title: METHOD FOR SEARCHING AND IDENTIFYING A GENETIC CONDITION PRODROMAL OF THE ONSET OF SOLID TUMORS
Abstract:
The method for searching and identifying a genetic condition prodromal of the onset of solid tumors in a healthy subject includes an evaluation cycle of a genetic stability or instability condition and at least one repetition cycle of said evaluation. The repetition cycles are carried out periodically on the subject, with the frequency depending on the result of the previous cycle. Each cycle includes the steps of: - taking a sample of biological material, isolating the DNA from the biological material, amplifying and sequencing the isolated DNA; - verifying the presence of mutations selected in a predetermined set of genes of the sample under consideration, said set of genes and said mutations being associated with the onset of solid tumors; - the predetermined set of genes including either a subset of the panel of genes or hotspots connected to one or more solid tumors, or the entire panel of genes connected to solid tumors; - verifying the frequency of mutations detected for each gene and for each evaluation cycle, the mutations being selected from the aforementioned selected mutations; - recording the mutations detected for each gene or group of genes and their frequency; - defining or updating a genetic instability index of the subject, either overall (IT) or for a single gene (IG), for each repetition cycle, based on the frequency of mutations detected and on the basis of the increase in the frequency of mutations; - evaluating, in each repetition cycle, the subject's entry into a prodromal genetic condition upon the onset of one or more solid tumors or groups of solid tumors on the basis of a threshold value (ITS,JGS) of the genetic instability index (IT,JG), defined for each single gene or group of genes, being exceeded.