Screening for Mutations in Hereditary Cancer Susceptibility Genes in a Region with High Endogamy in Brazil

Abstract

Introduction Cancer is a multifactorial disease dependent on the influence of genetic and environmental factors. About 10% of cancers are associated with germline mutations, which predispose to a higher risk of developing cancer. Currently, the use of panels that identify susceptibility and/or association genes cancer has been increasingly used, both in clinical practice and in scientific research.

Keywords

• hereditary cancer
• pathogenic variant
• multigene panel
• endogamy