학술논문
Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families
Document Type
Article
Author
Castéra, Laurent; Harter, Valentin; Muller, Etienne; Krieger, Sophie; Goardon, Nicolas; Ricou, Agathe; Rousselin, Antoine; Paimparay, Germain; Legros, Angelina; Bruet, Olivia; Quesnelle, Céline; Domin, Florian; San, Chankannira; Brault, Baptiste; Fouillet, Robin; Abadie, Caroline; Béra, Odile; Berthet, Pascaline; Frébourg, Thierry; Vaur, Dominique
Source
Genetics in Medicine; December 2018, Vol. 20 Issue: 12 p1677-1686, 10p
Subject
Language
ISSN
10983600; 15300366
Abstract
Integration of gene panels in the diagnosis of hereditary breast and ovarian cancer (HBOC) requires a careful evaluation of the risk associated with pathogenic or likely pathogenic variants (PVs) detected in each gene. Here we analyzed 34 genes in 5131 suspected HBOC index cases by next-generation sequencing.