Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

ABSTRACT:

Background

Hereditary cancer predisposition syndromes are responsible for approximately 5-10% of all diagnosed cancer cases. In the past, single-gene analysis of specific high risk genes was used for the determination of the genetic cause of cancer heritability in certain families. The application of Next Generation Sequencing (NGS) technology has facilitated multigene panel analysis and is widely used in clinical practice, for the identification of individuals with cancer predisposing gene variants. The purpose of this study was to investigate the extent and nature of variants in genes implicated in hereditary cancer predisposition in individuals referred for testing in our laboratory.

Methods

In total, 1197 individuals from Greece, Romania and Turkey were referred to our l

SUBMITTER: Tsaousis GN 

PROVIDER: S-EPMC6547505 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature