guest ::
| Home > Publications Database > Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots. > print |
| Home > Publications Database > Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots. > print |
| 001 | 140749 | ||
| 005 | 20250415113105.0 | ||
| 024 | 7 | _ | |a 10.1007/s10689-019-00121-z |2 doi |
| 024 | 7 | _ | |a pmid:30680470 |2 pmid |
| 024 | 7 | _ | |a 1389-9600 |2 ISSN |
| 024 | 7 | _ | |a 1573-7292 |2 ISSN |
| 024 | 7 | _ | |a altmetric:54568837 |2 altmetric |
| 037 | _ | _ | |a DZNE-2020-07071 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Chiu, Celine |b 0 |
| 245 | _ | _ | |a Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots. |
| 260 | _ | _ | |a Dordrecht [u.a.] |c 2019 |b Springer Science + Business Media B.V |
| 264 | _ | 1 | |3 online |2 Crossref |b Springer Science and Business Media LLC |c 2019-01-24 |
| 264 | _ | 1 | |3 print |2 Crossref |b Springer Science and Business Media LLC |c 2019-07-01 |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1744709424_5562 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a Medulloblastoma is the most frequent malignant brain tumor in childhood. This highly malignant neoplasm occurs usually before 10 years of age and more frequently in boys. The 5-year event-free survival rate for high-risk medulloblastoma is low at 62% despite a multimodal therapy including surgical resection, radiation therapy and chemotherapy. We report the case of a boy, who was born to consanguineous parents. Prominently, he had multiple café-au-lait spots. At the age of 3 years he was diagnosed with a high-risk metastatic medulloblastoma. The patient died only 11 months after diagnosis of a fulminant relapse presenting as meningeal and spinal dissemination. Whole-exome sequencing of germline DNA was employed to detect the underlying mutation for this putative cancer syndrome presenting with the combination of medulloblastoma and skin alterations. After screening all possible homozygous gene SNVs, we identified a mutation of SON, an essential protein in cell cycle regulation and cell proliferation, as the most likely genetic cause. |
| 536 | _ | _ | |a 345 - Population Studies and Genetics (POF3-345) |0 G:(DE-HGF)POF3-345 |c POF3-345 |f POF III |x 0 |
| 542 | _ | _ | |i 2019-01-24 |2 Crossref |u http://www.springer.com/tdm |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, |
| 650 | _ | 7 | |a DNA-Binding Proteins |2 NLM Chemicals |
| 650 | _ | 7 | |a Minor Histocompatibility Antigens |2 NLM Chemicals |
| 650 | _ | 7 | |a SON protein, human |2 NLM Chemicals |
| 650 | _ | 2 | |a Cafe-au-Lait Spots: genetics |2 MeSH |
| 650 | _ | 2 | |a Cerebellar Neoplasms: genetics |2 MeSH |
| 650 | _ | 2 | |a Child, Preschool |2 MeSH |
| 650 | _ | 2 | |a Consanguinity |2 MeSH |
| 650 | _ | 2 | |a DNA-Binding Proteins: genetics |2 MeSH |
| 650 | _ | 2 | |a Fatal Outcome |2 MeSH |
| 650 | _ | 2 | |a Humans |2 MeSH |
| 650 | _ | 2 | |a Male |2 MeSH |
| 650 | _ | 2 | |a Medulloblastoma: genetics |2 MeSH |
| 650 | _ | 2 | |a Minor Histocompatibility Antigens: genetics |2 MeSH |
| 650 | _ | 2 | |a Pedigree |2 MeSH |
| 650 | _ | 2 | |a Point Mutation |2 MeSH |
| 650 | _ | 2 | |a Syndrome |2 MeSH |
| 700 | 1 | _ | |a Loth, Stefanie |b 1 |
| 700 | 1 | _ | |a Kuhlen, Michaela |b 2 |
| 700 | 1 | _ | |a Ginzel, Sebastian |b 3 |
| 700 | 1 | _ | |a Schaper, Jörg |b 4 |
| 700 | 1 | _ | |a Rosenbaum, Thorsten |b 5 |
| 700 | 1 | _ | |a Pietsch, Torsten |0 P:(DE-2719)2812617 |b 6 |u dzne |
| 700 | 1 | _ | |a Borkhardt, Arndt |b 7 |
| 700 | 1 | _ | |a Hoell, Jessica I |0 P:(DE-HGF)0 |b 8 |e Corresponding author |
| 773 | 1 | 8 | |a 10.1007/s10689-019-00121-z |b : Springer Science and Business Media LLC, 2019-01-24 |n 3 |p 353-358 |3 journal-article |2 Crossref |t Familial Cancer |v 18 |y 2019 |x 1389-9600 |
| 773 | _ | _ | |a 10.1007/s10689-019-00121-z |g Vol. 18, no. 3, p. 353 - 358 |0 PERI:(DE-600)2015448-3 |n 3 |q 18:3<353 - 358 |p 353-358 |t Familial cancer |v 18 |y 2019 |x 1389-9600 |
| 856 | 4 | _ | |u https://pub.dzne.de/record/140749/files/DZNE-2020-07071_Restricted.pdf |
| 856 | 4 | _ | |u https://pub.dzne.de/record/140749/files/DZNE-2020-07071_Restricted.pdf?subformat=pdfa |x pdfa |
| 909 | C | O | |p VDB |o oai:pub.dzne.de:140749 |
| 910 | 1 | _ | |a Deutsches Zentrum für Neurodegenerative Erkrankungen |0 I:(DE-588)1065079516 |k DZNE |b 6 |6 P:(DE-2719)2812617 |
| 913 | 1 | _ | |a DE-HGF |b Gesundheit |l Erkrankungen des Nervensystems |1 G:(DE-HGF)POF3-340 |0 G:(DE-HGF)POF3-345 |3 G:(DE-HGF)POF3 |2 G:(DE-HGF)POF3-300 |4 G:(DE-HGF)POF |v Population Studies and Genetics |x 0 |
| 914 | 1 | _ | |y 2019 |
| 915 | _ | _ | |a Nationallizenz |0 StatID:(DE-HGF)0420 |2 StatID |d 2022-11-17 |w ger |
| 915 | _ | _ | |a JCR |0 StatID:(DE-HGF)0100 |2 StatID |b FAM CANCER : 2021 |d 2022-11-17 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0200 |2 StatID |b SCOPUS |d 2022-11-17 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0300 |2 StatID |b Medline |d 2022-11-17 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0199 |2 StatID |b Clarivate Analytics Master Journal List |d 2022-11-17 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0150 |2 StatID |b Web of Science Core Collection |d 2022-11-17 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1110 |2 StatID |b Current Contents - Clinical Medicine |d 2022-11-17 |
| 915 | _ | _ | |a IF < 5 |0 StatID:(DE-HGF)9900 |2 StatID |d 2022-11-17 |
| 920 | 1 | _ | |0 I:(DE-2719)1011009 |k Brainbank (Bonn) |l Brainbank Unit Bonn |x 0 |
| 980 | _ | _ | |a journal |
| 980 | _ | _ | |a VDB |
| 980 | _ | _ | |a I:(DE-2719)1011009 |
| 980 | _ | _ | |a UNRESTRICTED |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1200/JCO.2016.67.2428 |2 Crossref |o 10.1200/JCO.2016.67.2428 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1002/ajmg.a.38142 |2 Crossref |o 10.1002/ajmg.a.38142 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1056/NEJMoa1306555 |2 Crossref |o 10.1056/NEJMoa1306555 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1055/s-0034-1389905 |2 Crossref |o 10.1055/s-0034-1389905 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1093/bioinformatics/btp352 |2 Crossref |o 10.1093/bioinformatics/btp352 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1016/j.expneurol.2012.11.029 |2 Crossref |o 10.1016/j.expneurol.2012.11.029 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1038/ng.806 |2 Crossref |o 10.1038/ng.806 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1093/bioinformatics/btq330 |2 Crossref |o 10.1093/bioinformatics/btq330 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1038/nmeth0410-248 |2 Crossref |o 10.1038/nmeth0410-248 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1038/nprot.2009.86 |2 Crossref |o 10.1038/nprot.2009.86 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1002/humu.22511 |2 Crossref |o 10.1002/humu.22511 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1016/j.devcel.2010.06.005 |2 Crossref |o 10.1016/j.devcel.2010.06.005 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1016/j.tibtech.2013.03.005 |2 Crossref |o 10.1016/j.tibtech.2013.03.005 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1038/onc.2017.208 |2 Crossref |o 10.1038/onc.2017.208 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1002/jcb.24672 |2 Crossref |o 10.1002/jcb.24672 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1091/mbc.e09-02-0126 |2 Crossref |o 10.1091/mbc.e09-02-0126 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1186/1476-4598-11-88 |2 Crossref |o 10.1186/1476-4598-11-88 |
| 999 | C | 5 | |9 -- missing cx lookup -- |a 10.1016/j.molcel.2016.02.024 |2 Crossref |o 10.1016/j.molcel.2016.02.024 |
| Library | Collection | CLSMajor | CLSMinor | Language | Author |
|---|