Feasibility study for the joint genomic diagnosis of genetic risk and sensitivity to new drugs in breast, ovarian and colorectal tumors


Funding: On October 23rd 2019, an agreement was signed between the Ministry of Health and ACC for the funding of the GerSom Project with a 6.400.000,00€ grant. On December 17th 2019 ACC received the first 500.000,00€ tranche from the Ministry of Health. The second tranche is scheduled for 2020 with an amount of 4,300,000.00€ and the third and final tranche (1,600,000.00€) is scheduled for 2022.

Abstract: The general objective of this Research Program, is to study the feasibility of a joint diagnostic path, at the time of diagnosis of cancer, for the simultaneous identification of somatic mutations (for prognostic purposes and for anticipating the response to therapy) and hereditary variants (to identify the genetic risk of cancer) in patients with ovarian cancer, some subtypes of breast cancer (triple-negative) or colorectal cancer. The study involves 17 high standard institutes for comprehensive cancer patient care and research (IRCCS) of the ACC network. The feasibility of this project involves two main elements: i) the preparation of a high density gene panel (GerSom panel) for the simultaneous analysis of hereditary variants and somatic mutations, at low cost (<400€) and executable in a short time (<1 week); ii) the preparation of a database allowing the correct clinical management of information deriving from genetic analysis (both for treatments’ choice and for the mapping of genetic risk).

Project coordinator: The scientific coordinator of the project is Prof. Ruggero De Maria Marchiano, president of ACC.

Partecipating institutions: Fondazione Policlinico Universitario Agostino Gemelli (Centro Coordinatore dello Studio), Centro Di Riferimento Oncologico di Aviano, Istituto Nazionale Tumori Regina Elena, Istituto Nazionale Dei Tumori, Ospedale Policlinico San Martino, Istituto Nazionale Tumori IRCCS “Fondazione G. Pascale”, Ospedale Oncologico Di Bari – IRCCS Istituto Tumori “Giovanni Paolo II”, Azienda Unità Sanitaria Locale – IRCCS Reggio Emilia, Istituto Oncologico Veneto, Centro di Riferimento Oncologico della Basilicata, Ente Ospedaliero Specializzato In Gastroenterologia “Saverio de Bellis”, Istituto Clinico Humanitas – Humanitas Mirasole SpA, Ospedale San Raffaele S.r.l., Istituto Europeo di Oncologia S.r.l., Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori, Fondazione del Piemonte per l’Oncologia e la Fondazione di Religione e di Culto “Casa Sollievo della Sofferenza” Opera di San Pio da Pietrelcina.

Starting and ending date:The project started on December 3rd 2019 and it will end on December 2nd 2022