title: [The genetics of thrombosis in cancer].
abstract: Venous thromboembolism (VTE) is a multifactorial and complex disease in which the interaction of genetic factors (estimated at 60%) and environmental factors (e.g., the use of oral contraceptives, pregnancy, immobility and cancer) determine the risk of thrombosis for each individual. In particular, the association between thrombosis and cancer is well established. Approximately 20% of patients with cancer develop a thromboembolic event over the course of the natural history of the tumor process, with thrombosis being the second leading cause of death for these patients. One of the greatest challenges currently facing the field of oncology is the identification of patients at high risk of VTE who can benefit from thromboprophylaxis. Currently, there is a VTE risk prediction model for patients with cancer (the Khorana risk score); however, its ability to identify patients at high risk is very low. It is important to note that this score, which is based on five clinical parameters, ignores the genetic variability associated with VTE risk. In this article, we present the preliminary results of the Oncothromb study, whose objective is to develop an individual VTE risk prediction model for patients with cancer who are treated with outpatient chemotherapy. Our model includes the clinical and genetic data on each patient (Thrombo inCode(®) genetic profile). Only by integrating multiple layers of biological information (clinical, plasmatic and genetic) we could obtain models that provide accurate information as to which patients are at high risk of developing a thromboembolic event associated with cancer so as to take appropriate prophylactic measures.
authors.affiliation: Unitat de Genòmica de Malalties Complexes (UGMC), Institut d'Investigació Biomèdica Sant Pau (IIB-Sant Pau), Hospital de la Santa Creu i Sant Pau, Barcelona, España. Electronic address: jsoria@santpau.cat.
authors.forename: José Manuel
authors.initials: JM
authors.lastname: Soria
authors.affiliation: Unitat de Genòmica de Malalties Complexes (UGMC), Institut d'Investigació Biomèdica Sant Pau (IIB-Sant Pau), Hospital de la Santa Creu i Sant Pau, Barcelona, España.
authors.forename: Sonia
authors.initials: S
authors.lastname: López
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use; D000066491:Clinical Decision-Making / Q000379:methods*; D003661:Decision Support Techniques; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D009369:Neoplasms / Q000150:complications* / Q000188:drug therapy; D018570:Risk Assessment; D012307:Risk Factors; D054556:Venous Thromboembolism / Q000175:diagnosis / Q000209:etiology / Q000235:genetics* / Q000517:prevention & control
chemical_list: D000970:Antineoplastic Agents; D005819:Genetic Markers
keywords: Cancer; Cáncer; Enfermedad tromboembólica venosa; Factores genéticos; Genetic factors; Genetic susceptibility; Medicina personalizada; Medicina predictiva; Modelos de predicción; Prediction models; Predictive medicine; Risk score; Score de riesgo; Susceptibilidad genética; Tailored medicine; Thrombosis; Trombosis; Venous thromboembolic disease