Linked Life Data

19594371

Source:http://linkedlifedata.com/resource/pubmed/id/19594371

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2009-8-11
pubmed:abstractText
Recurring mutations in the BRCA1 gene are noted in some populations and represent either founder mutations or a mutational hot spot. The C61G*BRCA1 (c.181T>G) missense mutation is a pathogenic one commonly reported in Polish individuals. A Jewish non-Ashkenazi family (of Italian ancestry) was found to carry this mutation, and the present study aimed at evaluating whether this mutation represents a founder mutation or a mutational hot spot. To that end, multilocus allelotyping using five markers intragenic to and flanking the BRCA1 gene spanning a genomic region of approximately 1.5 Mbp was carried out in that family and in 20 unrelated Polish C61G*BRCA1 mutation carriers. Phasing was done using affected and unaffected Jewish family members. The alleles that compose the pathogenic, mutation-carrying intragenic BRCA1 haplotype of the Jewish mutation carriers were detected in 18/20 Polish mutation carriers. The two flanking markers farthest away showed more diversity, between and even within Polish individuals. In conclusion, the *BRCA1 missense mutation is a founder mutation that can be detected in geographically related populations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1945-0257
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
13
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
465-9
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Haplotype of the C61G BRCA1 mutation in Polish and Jewish individuals.
pubmed:affiliation
Institute of Oncology, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't