Study of mutations identified in exome sequencing of hepatoblastomas

• Grant number: 14/24701-0
• Support Opportunities: Scholarships in Brazil - Master
• Start date: August 01, 2015
• End date: March 31, 2016
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Agreement: Coordination of Improvement of Higher Education Personnel (CAPES)
• Principal Investigator: Ana Cristina Victorino Krepischi
• Grantee: Talita Ferreira Marques Aguiar
• Host Institution: A C Camargo Cancer Center. Fundação Antonio Prudente (FAP). São Paulo , SP, Brazil

Abstract

During embryogenesis, a change or block the normal process of cell differentiation and/or organogenesis can result in congenital anomalies or, possibly, development of an embryonic tumor. Hepatoblastomas are embryonic liver tumors with histological features that recapitulate different stages of differentiation of this organ. Due to its rarity, molecular data regarding carcinogenesis of hepatoblastomas are scarce. The identification of genetic pathways involved in the origin of hepatoblastomas can expand the understanding of the connection between rupture of differentiation and cancer. With this aim, we conducted research of rare genetic variants identified in the coding regions of the genome sequencing by next generation (or exome sequencing, exome sequencing). The sequencing data were obtained in exome Illumina platform DNA samples from 6 pairs of hepatoblastomas and their non-tumor edges obtained in Biobank - Tumor Bank AC Camargo Cancer Center. The purpose of this project is to develop an analysis of the data derived from sequencing the exome of hepatoblastomas with careful annotation of genomic variants using public databases to identify potentially pathogenic rare somatic events. Validation of rare genomic variants will be conducted by a panel of construction in order to select a group of genes with somatic mutations validated for investigation of mutations in a group of independent hepatoblastomas. (AU)