Linked Life Data

18428420

Source:http://linkedlifedata.com/resource/pubmed/id/18428420

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2008-4-22
pubmed:abstractText
Li-Fraumeni Syndrome (LFS; OMIM #151623) is an autosomal dominant cancer predisposition syndrome characterized by early onset tumors including sarcomas, breast cancer, leukemia, brain tumors, and adrenocortical carcinoma. Li-Fraumeni syndrome is primarily attributed to germline mutations in the p53 tumor suppressor gene, which encodes tumor protein 53. In addition to germline p53 mutations, the p53 gene is the most commonly mutated gene in human cancers, with as much as 50% of tumors containing somatic p53 mutations. This unit provides a protocol to perform germline mutation analysis of the p53 gene. The protocol includes steps for amplification and sequencing of the entire coding region of the p53 gene (exons 2 to 11). The protocol was designed for detecting germline alterations from DNA extracted from blood; however, with some additional optimization, it could also be used to detect somatic mutations in DNA extracted from tumors.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1934-8258
pubmed:author
pubmed:copyrightInfo
Copyright 2008 by John Wiley & Sons, Inc.
pubmed:issnType
Electronic
pubmed:volume
Chapter 10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
Unit 10.10
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
p53 Testing for Li-Fraumeni and Li-Fraumeni-like syndromes.
pubmed:affiliation
City of Hope National Medical Center, Duarte, California, USA.
pubmed:publicationType
Journal Article