Linked Life Data

20088375

Source:http://linkedlifedata.com/resource/pubmed/id/20088375

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2010-1-21
pubmed:abstractText
Analysis of genetic predisposition to cancer can provide valuable information for early cancer detection or even prevention. Insertion 5382insC in BRCA1 gene is the most frequent mutation among those associated with high risk of breast cancer in women of East European origin. The method of 5382insC detection using fluorescent labeled allele specific oligonucleotides in Duplex Scorpion format has been developed. The method can be used in real-time PCR conditions as well as in conditions of end-point fluorescence measurement followed regular PCR. The adequacy of the method was demonstrated in the study of 5382insC mutation frequency in breast cancer patients. 564 samples of genomic DNA from breast cancer patients were genotyped. Eleven patients (1.95%) were found to be heterozygous for BRCA1 5382insC mutation. 5382insC allele frequency in breast cancer patients group was 0.0098. The method can be used as in clinical practice to determine individuals of a high risk of breast cancer, as in wide-scale population studies.
pubmed:language
rus
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0026-8984
pubmed:author
pubmed:issnType
Print
pubmed:volume
43
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
999-1005
pubmed:meshHeading
pubmed:articleTitle
[Detection of 5382insC mutation in human BRCA1 gene using fluorescent labeled oligonucleotides].
pubmed:publicationType
Journal Article, English Abstract