| pubmed-article:10739763 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10739763 | lifeskim:mentions | umls-concept:C0231330 | lld:lifeskim |
| pubmed-article:10739763 | lifeskim:mentions | umls-concept:C0241888 | lld:lifeskim |
| pubmed-article:10739763 | lifeskim:mentions | umls-concept:C0006118 | lld:lifeskim |
| pubmed-article:10739763 | lifeskim:mentions | umls-concept:C1116439 | lld:lifeskim |
| pubmed-article:10739763 | lifeskim:mentions | umls-concept:C0292369 | lld:lifeskim |
| pubmed-article:10739763 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:10739763 | lifeskim:mentions | umls-concept:C0206530 | lld:lifeskim |
| pubmed-article:10739763 | lifeskim:mentions | umls-concept:C0175668 | lld:lifeskim |
| pubmed-article:10739763 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:10739763 | pubmed:dateCreated | 2000-5-31 | lld:pubmed |
| pubmed-article:10739763 | pubmed:abstractText | We have identified a family afflicted over multiple generations with posterior fossa tumors of infancy, including central nervous system (CNS) malignant rhabdoid tumor (a subset of primitive neuroectodermal tumors, or PNET) and choroid plexus carcinoma. Various hereditary tumor syndromes, including Li-Fraumeni syndrome, Gorlin syndrome, and Turcot syndrome, have been linked to increased risk of developing CNS PNETs and choroid plexus tumors. Malignant rhabdoid tumors of the CNS and kidney show loss of heterozygosity at chromosome 22q11. The hSNF5 gene on chromosome 22q11 has recently been identified as a candidate tumor-suppressor gene in sporadic CNS and renal malignant rhabdoid tumors. We describe a family in which both affected and some unaffected family members were found to have a germline splice-site mutation of the hSNF5 gene, leading to exclusion of exon 7 from the mature cDNA and a subsequent frameshift. Tumor tissue shows loss of the wild-type hSNF5 allele, in keeping with a tumor-suppressor gene. These findings suggest that germline mutations in hSNF5 are associated with a novel autosomal dominant syndrome with incomplete penetrance that predisposes to malignant posterior fossa brain tumors in infancy. | lld:pubmed |
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| pubmed-article:10739763 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10739763 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10739763 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:10739763 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10739763 | pubmed:month | Apr | lld:pubmed |
| pubmed-article:10739763 | pubmed:issn | 0002-9297 | lld:pubmed |
| pubmed-article:10739763 | pubmed:author | pubmed-author:AndrulisI LIL | lld:pubmed |
| pubmed-article:10739763 | pubmed:author | pubmed-author:DrakeJ MJM | lld:pubmed |
| pubmed-article:10739763 | pubmed:author | pubmed-author:RutkaJ TJT | lld:pubmed |
| pubmed-article:10739763 | pubmed:author | pubmed-author:TaylorM DMD | lld:pubmed |
| pubmed-article:10739763 | pubmed:author | pubmed-author:GokgozNN | lld:pubmed |
| pubmed-article:10739763 | pubmed:author | pubmed-author:MainprizeT... | lld:pubmed |
| pubmed-article:10739763 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10739763 | pubmed:volume | 66 | lld:pubmed |
| pubmed-article:10739763 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10739763 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10739763 | pubmed:pagination | 1403-6 | lld:pubmed |
| pubmed-article:10739763 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:10739763 | pubmed:year | 2000 | lld:pubmed |
| pubmed-article:10739763 | pubmed:articleTitle | Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene. | lld:pubmed |
| pubmed-article:10739763 | pubmed:affiliation | Arthur and Sonia Labatt Brain Tumor Research Centre, Division of Neurosurgery, Hospital for Sick Children, University of Toronto, Toronto, Canada. | lld:pubmed |
| pubmed-article:10739763 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10739763 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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