Ontology highlight
ABSTRACT:
SUBMITTER: de Garibay GR
PROVIDER: S-EPMC3722678 | biostudies-literature | 2013 Aug
REPOSITORIES: biostudies-literature
European journal of human genetics : EJHG 20121205 8
Fanconi anemia is a genetically heterogeneous autosomal recessive disorder characterized by development abnormalities, bone marrow failure, and childhood cancers. Compelling evidence indicates a common genetic basis for FA and breast/ovarian cancer susceptibility. Recently, biallelic germ-line mutations in SLX4 have been demonstrated to cause a previously unknown FA subtype (FA-P). We address the role of SLX4/FANCP in breast/ovarian cancer susceptibility by conducting a comprehensive mutation sc ...[more]