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

• Main Authors: Israel Gomy, Maria Del Pilar Estevez Diz
• Format: Article
• Language: English
• Published: Sociedade Brasileira de Genética 2016-01-01
• Series: Genetics and Molecular Biology
• Subjects: next-generation sequencing; hereditary cancer; genetic counseling; risk assessment
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016005001102&lng=en&tlng=en

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.