Childhood cancer predisposition syndromes—a concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric …
T Ripperger, SS Bielack, A Borkhardt… - American journal of …, 2017 - Wiley Online Library
Heritable predisposition is an important cause of cancer in children and adolescents.
Although a large number of cancer predisposition genes and their associated syndromes …
Although a large number of cancer predisposition genes and their associated syndromes …
Retinoblastoma and neuroblastoma predisposition and surveillance
J Kamihara, F Bourdeaut, WD Foulkes… - Clinical Cancer …, 2017 - AACR
Retinoblastoma (RB) is the most common intraocular malignancy in childhood.
Approximately 40% of retinoblastomas are hereditary and due to germline mutations in the …
Approximately 40% of retinoblastomas are hereditary and due to germline mutations in the …
Genetics and molecular diagnostics in retinoblastoma—an update
SE Soliman, H Racher, C Zhang… - The Asia-Pacific …, 2017 - journals.lww.com
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 …
retinoblastomas are initiated by biallelic mutation of the retinoblastoma tumor suppressor …
[HTML][HTML] Chromosome 3 status combined with BAP1 and EIF1AX mutation profiles are associated with metastasis in uveal melanoma
KG Ewens, PA Kanetsky… - … & visual science, 2014 - iovs.arvojournals.org
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 …
identified in uveal melanoma (UM). The aim of this study was to determine whether …
[HTML][HTML] Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma/DICER1 syndrome: a …
M Brenneman, A Field, J Yang, G Williams… - …, 2015 - ncbi.nlm.nih.gov
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 …
indication of a pleiotropic cancer predisposition, DICER1 syndrome, comprising a range of …
Tumor syndromes predisposing to osteosarcoma
M Hameed, D Mandelker - Advances in anatomic pathology, 2018 - journals.lww.com
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 …
adolescents and young adults. It accounts for about 5% of all childhood cancers. Although …
Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “de novo” SCN1A Mutations in Children with Dravet Syndrome
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 …
mutations. To investigate the origin of the mutations, we developed and applied a new …
[HTML][HTML] Genetic predisposition to solid pediatric cancers
M Capasso, A Montella, M Tirelli, T Maiorino… - Frontiers in …, 2020 - frontiersin.org
Progresses over the past years have extensively improved our capacity to use genome-
scale analyses—including high-density genotyping and exome and genome sequencing …
scale analyses—including high-density genotyping and exome and genome sequencing …
[HTML][HTML] NCT/DKFZ MASTER handbook of interpreting whole-genome, transcriptome, and methylome data for precision oncology
A Mock, MV Teleanu, S Kreutzfeldt, CE Heilig… - NPJ Precision …, 2023 - nature.com
Abstract Analysis of selected cancer genes has become an important tool in precision
oncology but cannot fully capture the molecular features and, most importantly …
oncology but cannot fully capture the molecular features and, most importantly …
[HTML][HTML] Next-generation sequencing applications for inherited retinal diseases
A Dockery, L Whelan, P Humphries… - International Journal of …, 2021 - mdpi.com
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 …
diverse conditions. IRDs phenotype (s) can be isolated to the eye or can involve multiple …