Linked Life Data

10341343

Source:http://linkedlifedata.com/resource/pubmed/id/10341343

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1999-6-7
pubmed:abstractText
A new type of mutation by deletion-insertion in BRCA-1 gene is found in three unrelated French breast/ovarian cancer families. Surprisingly, deletion and insertion occurred at the same nucleotide position at the end of exon 11 (3958del5ins4), thus generating a truncated protein. This original mutation consists in a deletion of 5 bp (CTCAG) and in an insertion of 4 different bp (AGGC). Here, we proposed two hypothesis to explain this phenomenom. The first hypothesis is the formation of a hairpin stem-loop structure comprising the mutational site and the sequence corresponding to the duplication insertion 2 nucleotides before the mutation. The second hypothesis, more speculative, consists in an abortive integration of a human mobile element as a human transposon (tigger 1) which involved a deletion of 5 bp during its excision and an insertion of 4 bases corresponding to the 5' extremity of the transposon.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0007-4551
pubmed:author
pubmed:issnType
Print
pubmed:volume
86
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
385-90
pubmed:dateRevised
2009-11-11
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
[Mutation by deletion-insertion in BRCA-1 gene in three unrelated French breast/ovarian cancer families: possible implication of a mobile element].
pubmed:affiliation
Laboratoire d'oncologie moléculaire, Inserm CRI 9502 & EA 2145, Centre Jean-Perrin, BP 392, 58, rue Montalembert, 63011 Clermont-Ferrand Cedex 1, France.
pubmed:publicationType
Journal Article, English Abstract, Research Support, Non-U.S. Gov't