Ontology highlight
ABSTRACT:
SUBMITTER: Quiles F
PROVIDER: S-EPMC3629201 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Quiles Francisco F Fernández-Rodríguez Juana J Mosca Roberto R Feliubadaló Lídia L Tornero Eva E Brunet Joan J Blanco Ignacio I Capellá Gabriel G Pujana Miquel Àngel MÀ Aloy Patrick P Monteiro Alvaro A Lázaro Conxi C
PloS one 20130417 4
Germline inactivating mutations in BRCA1 and BRCA2 genes are responsible for Hereditary Breast and Ovarian Cancer Syndrome (HBOCS). Genetic testing of these genes is available, although approximately 15% of tests identify variants of uncertain significance (VUS). Classification of these variants into pathogenic or non-pathogenic type is an important challenge in genetic diagnosis and counseling. The aim of the present study is to functionally assess a set of 7 missense VUS (Q1409L, S1473P, E1586 ...[more]