Linked Life Data

18989156

Source:http://linkedlifedata.com/resource/pubmed/id/18989156

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
2008-11-7
pubmed:abstractText
In 1990, an 18-month-old Micronesian girl was initially diagnosed with a right adrenocortical carcinoma. More than a decade later (2003), she was diagnosed with metastatic osteosarcoma with the primary in her right proximal fibula. Given this child's remarkable history of malignancy, she underwent testing for a genetic mutation that is associated with increased cancer formation. One such cancer syndrome is called Li-Fraumeni syndrome where approximately 70% of patients carry a genetic mutation in the p53 tumor suppressor gene. Patients with LFS are at risk for developing cancers of the breast, soft tissues, brain, bone, adrenal gland, and blood cells. Mutational analysis of our patient did reveal the presence of a germline mutation of the p53 tumor suppressor gene. She was found to have a base pair change (A-->C) at nucleotide 394 resulting in a lysine to glutamine amino acid change at codon 132 (K132Q), which remarkably has never been described in association with either adrenocortical carcinoma or osteosarcoma.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1536-3678
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
30
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
803-6
pubmed:dateRevised
2011-10-6
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Germline p53 mutation in a Micronesian child with adrenocortical carcinoma and subsequent osteosarcoma.
pubmed:affiliation
Department of Pediatrics, Tripler Army Medical Center, 1 Jarrett White Road, Tripler AMC, HI 96859-5000, USA. heather.delaney@amedd.army.mil
pubmed:publicationType
Journal Article, Case Reports