Data · dataset · 2016
Next-generation sequencing reveals germline mutations in an infant with synchronous occurrence of nephro- and neuroblastoma
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Although neuro- and nephroblastoma are common solid tumors in children, the simultaneous occurrence is very rare and is often associated with syndromes.
Description
Here, we present a unique case of synchronous occurrence of neuro- and nephroblastoma in an infant with no signs of congenital anomalies or a syndrome. We performed genetic testing for possible candidate genes as underlying mutation using the next-generation sequencing (NGS) approach to target 94 genes and 284 single-nucleotide polymorphisms (SNPs) involved in cancer.
We uncovered a novel heterozygous germline missense mutation p.F58L (c.172T→C) in the anaplastic lymphoma kinase ( ALK ) gene and one novel heterozygous rearrangement Q418Hfs
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- 11 (c.1254_1264delins TTACTTAGTACAAGAACTG) in the Fanconi anemia gene FANCD2 leading to a truncated protein. Besides, several SNPs associated with the occurrence of neuroblastoma and/or nephroblastoma or multiple primary tumors were identified. The next-generation sequencing approach might in the future be useful not only in understanding tumor etiology but also in recognizing new genetic markers and targets for future personalized therapy.
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Where it is published
- Repository landing page tandf.figshare.com/articles/dataset/Next-generation_sequencing_reveals_germline_m… ↗
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- DOI doi.org/10.6084/m9.figshare.3427172.v1 ↗
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Documentation and papers
- Creative Commons Attribution 4.0 International creativecommons.org/licenses/by/4.0/legalcode ↗
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- IsSupplementTo 10.1080/08880018.2016.1184362 doi.org/10.1080/08880018.2016.1184362 ↗
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Catalogue records · 2
- DataCite API api.datacite.org/dois/10.6084/m9.figshare.3427172.v1 ↗
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- DataCite Commons commons.datacite.org/doi.org/10.6084/m9.figshare.3427172.v1 ↗
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Topics
- Stated by source
- Biological sciences · Computer and information sciences · Physical sciences
- From keywords
- Bioinformatics and computational biology · Cancer · Genetics
- Inferred from text
- Sequencing 75%
Related
Provenance · 1 source records, 13 field assertions
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|---|---|---|---|
| DataCite | 10.6084/m9.figshare.3427172.v1 | 14 d ago | JSON v1 |
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