Heritable predisposition is an important cause of cancer in children and adolescents.
Although a large number of cancer predisposition genes and their associated syndromes …

Retinoblastoma (RB) is the most common intraocular malignancy in childhood.
Approximately 40% of retinoblastomas are hereditary and due to germline mutations in the …

Retinoblastoma is the prototype genetic cancer: in one or both eyes of young children, most
retinoblastomas are initiated by biallelic mutation of the retinoblastoma tumor suppressor …

Purpose.: Somatic mutations in GNAQ, GNA11, SF3B1, EIF1AX, and BAP1 have been
identified in uveal melanoma (UM). The aim of this study was to determine whether …

Pleuropulmonary blastoma (PPB) is the most frequent pediatric lung tumor and often the first
indication of a pleiotropic cancer predisposition, DICER1 syndrome, comprising a range of …

Osteosarcoma (OS) is the most common primary bone tumor affecting predominantly
adolescents and young adults. It accounts for about 5% of all childhood cancers. Although …

The majority of children with Dravet syndrome (DS) are caused by de novo SCN1A
mutations. To investigate the origin of the mutations, we developed and applied a new …

Progresses over the past years have extensively improved our capacity to use genome-
scale analyses—including high-density genotyping and exome and genome sequencing …

Abstract Analysis of selected cancer genes has become an important tool in precision
oncology but cannot fully capture the molecular features and, most importantly …

Inherited retinal diseases (IRDs) represent a collection of phenotypically and genetically
diverse conditions. IRDs phenotype (s) can be isolated to the eye or can involve multiple …