Linked Life Data

15172753

Source:http://linkedlifedata.com/resource/pubmed/id/15172753

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2004-6-2
pubmed:abstractText
The entire coding regions of the two breast cancer susceptibility genes BRCA1 and BRCA2 from breast cancer patients from 40 Cypriot families with multiple cases of breast and ovarian cancer were sequenced. A total of four protein-truncating mutations were found in six families. In BRCA1, a novel truncating mutation 5429delG was found in exon 21. In BRCA2, three truncating mutations were detected: a frameshift 8984delG in exon 22 and two nonsense mutations C1913X in exon 11 and K3326X in exon 27. It is noted that mutation 8984delG was found in three separate families, and haplotype analysis showed that this may be a founder mutation in the Cypriot population. In addition, a pair of rare variants, Q356R and S1512I, was detected in BRCA1 in patients belonging to two Cypriot families. The simultaneous presence of this pair of missense mutations may be associated with the breast cancer phenotype in the Cypriot population. We conclude that the BRCA2 gene appears to play a more important role in familial breast cancer in the Cypriot population than BRCA1.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0165-4608
pubmed:author
pubmed:issnType
Print
pubmed:volume
151
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
152-6
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation.
pubmed:affiliation
Department of Electron Microscopy and Molecular Pathology, The Cyprus Institute of Neurology and Genetics, POB 23462, 1683 Nicosia, Cyprus.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't