Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era

AUTOR(ES)

Gomy, Israel, Diz, Maria Del Pilar Estevez

FONTE

Genet. Mol. Biol.

DATA DE PUBLICAÇÃO

13/05/2016

RESUMO

Abstract Hereditary cancer risk assessment is a multidisciplinary and dynamic process, with the purpose of estimating probabilities of germline mutations in cancer susceptibility genes and assessing empiric risks of cancer based on personal and family histories, in order to offer clinical and molecular diagnoses and clinical management based on these risks. Genetic tests are available and most of them are reimbursed by insurance companies, although they are generally not covered by the public health systems of developing countries. More recently, molecular diagnosis of hereditary cancer is feasible through next-generation sequencing (NGS) panels. Here we review the benefits and limitations of NGS technologies in the clinical practice.

Documentos Relacionados

• Next-generation Sequencing-based genomic profiling: Fostering innovation in cancer care?
• Application of Next-generation Sequencing in Clinical Molecular Diagnostics
• Glycogen Storage Diseases: Next-Generation Medicine
• The Role of Next-Generation Sequencing in the Diagnosis of Lysosomal Storage Disorders
• Production of the next-generation library virtual tour