title: Genetic instability and increased mutational load: which diagnostic tool best direct patients with cancer to immunotherapy?
abstract: The occurrence of high rates of somatic mutations in cancer is believed to correspond to increased frequency of neo-epitope formation and tumor immunogenicity. Thus, classification of patients with cancer according to degree a somatic hyper-mutational status could be proposed as a predictive biomarker of responsiveness to immunotherapy with immune checkpoint inhibitors. Here, we discuss the suitable and reliable tests easily adoptable in clinical practice to assess somatic mutational status in patients with advanced cancer.
authors.affiliation: Unit of Cancer Genetics, Institute of Biomolecular Chemistry-National Research Council (ICB-CNR), Traversa La Crucca 3, Baldinca Li Punti, 07100, Sassari, Italy. gpalmieri@yahoo.com.
authors.forename: Giuseppe
authors.identifier: 0000-0002-4350-2276
authors.initials: G
authors.lastname: Palmieri
authors.affiliation: Unit of Cancer Genetics, Institute of Biomolecular Chemistry-National Research Council (ICB-CNR), Traversa La Crucca 3, Baldinca Li Punti, 07100, Sassari, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Colombino
authors.affiliation: Institute of Pathology, Azienda Ospedaliero Universitaria (AOU), Sassari, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Cossu
authors.affiliation: Center of Predictive Molecular Medicine, Center for Excellence on Ageing and Translational Medicine, University of Chieti-Pescara, Chieti, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Marchetti
authors.affiliation: Istituto Nazionale Tumori Fondazione Pascale, Naples, Italy.
authors.forename: Gerardo
authors.initials: G
authors.lastname: Botti
authors.affiliation: Istituto Nazionale Tumori Fondazione Pascale, Naples, Italy.
authors.forename: Paolo A
authors.initials: PA
authors.lastname: Ascierto
mesh_terms: D004273:DNA, Neoplasm / Q000235:genetics; D004587:Electrophoresis, Agar Gel; D056426:Genetic Loci; D042822:Genomic Instability; D006801:Humans; D007167:Immunotherapy; D018895:Microsatellite Repeats / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D009369:Neoplasms / Q000235:genetics* / Q000276:immunology / Q000628:therapy*
chemical_list: D004273:DNA, Neoplasm