Identification of genetic variants related to cancer predisposition in cohort of patients with embryonal tumors or pediatric tumors and additional clinical signs

• Grant number: 18/05961-2
• Support Opportunities: Scholarships in Brazil - Post-Doctoral
• Effective date (Start): December 01, 2018
• Effective date (End): June 13, 2021
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Ana Cristina Victorino Krepischi
• Grantee: Anne Caroline Barbosa Teixeira
• Host Institution: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Associated research grant: 13/08028-1 - CEGH-CEL - Human Genome and Stem Cell Research Center, AP.CEPID

Abstract

Pediatric tumors are intrinsically different from tumors in adults, and childhood cancer is inseparable from processes of cell differentiation and organogenesis. The causes of most pediatric cancers are unknown and there is no significant association with environmental risk factors; therefore, nothing can be done for prevention. Leukemias, lymphomas and tumors of the central nervous system are the most frequent neoplasms in children, but most other solid tumors are less studied because they are rare among pediatric tumors in general. One of the great challenges of biomedical research is to associate human genetic variants with phenotypic characteristics. Rare and common genetic variations influence cancer susceptibility, not only in cancer predisposition syndromes (caused by rare mutations with high penetrance), but also in susceptibility to sporadic neoplasms (combination of low to moderate risk variants). The prevalence and the spectrum of mutated genes in the predisposition to cancer among children and adolescents remain little explored. In this context, our project aims to study the genetic variants that are associated with the development of pediatric cancer, especially in hepatoblastoma-type embryonic tumors and patients with pediatric tumors and additional clinical signs. As an approach, we will investigate copy number alterations per array-CGH and complete exome sequencing in cohort of patients affected by pediatric malignancies, aiming at the identification and characterization of the spectrum of germline genetic variants associated with predisposition to cancer.

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

PIRES, SARA FERREIRA; TOLEZANO, GIOVANNA CANTINI; DA COSTA, SILVIA SOUZA; KAWAHIRA, RACHEL SAYURI HONJO; KIM, CHONG AE; ROSENBERG, CARLA; TEIXEIRA, ANNE CAROLINE BARBOSA; BERTOLA, DEBORA ROMEO; KREPISCHI, ANA CRISTINA VICTORINO. Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma. PEDIATRIC BLOOD & CANCER, AUG 2020. (18/21047-9, 13/08028-1, 18/05961-2)

MARQUES AGUIAR, TALITA FERREIRA; RIVAS, MARIA PRATES; COSTA, SILVIA; MASCHIETTO, MARIANA; RODRIGUES, TATIANE; DE BARROS, JULIANA SOBRAL; BARBOSA, ANNE CAROLINE; VALIERIS, RENAN; FERNANDES, GUSTAVO R.; BERTOLA, DEBORA R.; et al. Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients. FRONTIERS IN ONCOLOGY, v. 10, MAY 5 2020. (13/08028-1, 18/05961-2, 16/04785-0, 17/11212-0, 16/23462-8, 18/21047-9)