Linked Life Data

19517271

Source:http://linkedlifedata.com/resource/pubmed/id/19517271

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2009-11-2
pubmed:abstractText
Only about 40% of the familial aggregation of breast cancer can be attributed to germline mutations in currently identified genes, primarily BRCA1 and BRCA2. A recent genome-wide association study focusing on Jewish Ashkenazi high risk women identified a novel locus on chromosome 6 as putatively containing breast cancer susceptibility genes, a locus that contains two seemingly novel candidate genes: RNF146 and ECHDC1. To further explore the role of these two genes in inherited predisposition to breast cancer. High risk, cancer affected Jewish Ashkenazi women, were genotyped for harboring germline mutations in the coding exons of both the RNF146 and ECHDC1 genes, using direct sequencing. All participants were Ashkenazim, of high risk families, and affected with cancer: 104 with breast cancer [age at diagnosis (mean +/- SD) 51 +/- 11.1 years], and one with ovarian cancer (61 years). None was a carrier of the predominant Jewish BRCA1/BRCA2 mutations. An intronic sequence alteration was detected in 4/105 genotyped patients in intron 3 of the ECHDC1 gene. No other sequence alterations were detected in the genomic regions analyzed of the RNF146 and ECHDC1 genes in any of the study participants. Mutations in the coding regions of the RNF146 and ECHDC1 genes do not contribute to the burden of inherited predisposition of breast cancer in Ashkenazi high risk women.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1573-7292
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
399-402
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
The RNF146 and ECHDC1 genes as candidates for inherited breast and ovarian cancer in Jewish Ashkenazi women.
pubmed:affiliation
The Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, 52621 Tel-Hashomer, Israel.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't