Ontology highlight
ABSTRACT:
SUBMITTER: Rampersaud E
PROVIDER: S-EPMC6457220 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Blood advances 20190401 7
Recent studies have identified germline mutations in <i>TP53</i>, <i>PAX5</i>, <i>ETV6</i>, and <i>IKZF1</i> in kindreds with familial acute lymphoblastic leukemia (ALL), but the genetic basis of ALL in many kindreds is unknown despite mutational analysis of the exome. Here, we report a germline deletion of <i>ETV6</i> identified by linkage and structural variant analysis of whole-genome sequencing data segregating in a kindred with thrombocytopenia, B-progenitor acute lymphoblastic leukemia, an ...[more]