Molecular and phenotypic evaluation of individuals and families with multilocus inherited Neoplasia alleles Syndrome

• Grant number: 21/04130-2
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: August 01, 2021
• End date: January 31, 2023
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Giovana Tardin Torrezan
• Grantee: Sophia Mascagni Silva
• Host Institution: A C Camargo Cancer Center. Fundação Antonio Prudente (FAP). São Paulo , SP, Brazil

Abstract

Currently, the genetic diagnosis of individuals at risk for hereditary cancer predisposition syndromes (HCPS) is carried out through the sequencing of a new generation of multigenic panels containing from ten to a hundred cancer predisposition genes (GPC). Recent studies in the literature and in our group show that a small portion of patients with SPHC has pathogenic / probably pathogenic (P / PP) variants in more than one gene, including genes of high and moderate cancer penetration. This condition has recently been described as multilocus inherited neoplasia alleles syndrome (MINAS). However, the clinical implications related to the expressiveness of multiple variants in an individual are still largely unknown. Thus, the phenotypic and molecular characterization of individuals and families in which two or more P / PP variants are secreting may provide evidence about the etiology of the tumors, synergistic effects, and modified risks in these individuals. In this sense, the present study aims to describe the clinical characteristics of patients/families with MINAS and to evaluate the molecular characteristics (protein expression and loss of heterozygosis) of these individuals' tumors, seeking to define etiology relationships between variants and tumors. In addition to the main objectives of the work, this project also aims at the technical and scientific training of the student, who will have the opportunity to get involved in other projects of the group related to the theme of hereditary tumors.(AU)