Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes

Abstract Background In a considerable number of patients with a suspected hereditary tumor syndrome (HTS), no underlying germline mutation is detected in the most likely affected genes. The present study aimed to establish and validate a large gene panel for HTS, and determine its diagnostic yield a...

Full description

Bibliographic Details
Main Authors: Jonas Henn, Isabel Spier, Ronja S. Adam, Stefanie Holzapfel, Siegfried Uhlhaas, Katrin Kayser, Guido Plotz, Sophia Peters, Stefan Aretz
Format: Article
Language:English
Published: BMC 2019-01-01
Series:Hereditary Cancer in Clinical Practice
Subjects:
Familial tumor syndromes
Hereditary cancer
Tumor predisposition syndromes
Targeted sequencing
Next generation sequencing
Online Access:http://link.springer.com/article/10.1186/s13053-018-0102-4

Internet

http://link.springer.com/article/10.1186/s13053-018-0102-4

Similar Items