Computational analysis of the role of exonic variations in breast cancer genesis and progression

• Grant number: 14/03681-1
• Support Opportunities: Scholarships in Brazil - Post-Doctorate
• Effective date (Start): June 01, 2014
• Effective date (End): May 31, 2015
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Dirce Maria Carraro
• Grantee: Rodrigo Fernandes Ramalho
• Host Institution: A C Camargo Cancer Center. Fundação Antonio Prudente (FAP). São Paulo , SP, Brazil
• Associated research grant: 13/23277-8 - Molecular aspects involved in the development and progression of breast ductal carcinoma: investigation of carcinoma in situ progression and the role of BRCA1 mutation in the triple negative tumor, AP.TEM

Abstract

The elucidation of the mechanisms of cancer pathogenesis involves the identification and analysis of DNA somatic variations. Undoubtly cancer diagnosis and therapy will be improved with the advent of Next Genetation Sequencing technologies (NGS). Thanks to NGS technology it has become feasible to dected several types of genomic variation, e.g, single-nucleotide variations, insertions and deletions (indels) and copy number variations in high resolution. However, the huge amount of sequencing data provides a hard computational and statistical challenge. Moreover, distinguish the causal variations among thousands of others found in the cancer genome represents a hard biological question. Here, we propose the computational analysis of sequence data from the exome of breast cancer samples The mains objectives are a) compare the exonic somatic variations between two stages of ductal carcinome to a better understanding of tumor progression, b) evaluate the relevance of somatic mutations on epigenetic modifiers to the viability of agressive cancers. Additionally, we propose the development of scripts to combine the advantages of several programs for NGS data analysis. (AU)