Source:http://linkedlifedata.com/resource/pubmed/id/18372405
Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
2008-3-28
|
| pubmed:abstractText |
Estrogen exposure is a risk factor for breast cancer. Given that HSD17B2 gene encodes an enzyme that catalyses estradiol inactivation, it appears as a good candidate breast cancer susceptibility gene. This study was designed to screen for HSD17B2 germline mutations potentially involved in breast cancer predisposition. Our re-sequencing analysis did not identify any deleterious germline mutations, and therefore mutations in HSD17B2 do not explain the clustering of breast cancer cases in non-BRCA1/2 high-risk French Canadian families. However, six sequence variants were identified, including two novel missense variants. Expression assays revealed that p.Ala111Asp and p.Gly160Arg did not alter the catalytic properties of 17beta-hydroxysteroid dehydrogenase type 2 enzyme, although p.Ala111Asp appears to affect protein stability resulting in significant decreases in the protein levels, providing valuable information on structure-function relationship.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Apr
|
| pubmed:issn |
1479-6813
|
| pubmed:author | |
| pubmed:issnType |
Electronic
|
| pubmed:volume |
40
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
161-72
|
| pubmed:meshHeading |
pubmed-meshheading:18372405-Adult,
pubmed-meshheading:18372405-Aged,
pubmed-meshheading:18372405-Amino Acid Sequence,
pubmed-meshheading:18372405-Breast Neoplasms,
pubmed-meshheading:18372405-Case-Control Studies,
pubmed-meshheading:18372405-Cells, Cultured,
pubmed-meshheading:18372405-DNA Mutational Analysis,
pubmed-meshheading:18372405-Estradiol Dehydrogenases,
pubmed-meshheading:18372405-Family,
pubmed-meshheading:18372405-Female,
pubmed-meshheading:18372405-Gene Expression Regulation, Enzymologic,
pubmed-meshheading:18372405-Genetic Predisposition to Disease,
pubmed-meshheading:18372405-Germ-Line Mutation,
pubmed-meshheading:18372405-Humans,
pubmed-meshheading:18372405-Middle Aged,
pubmed-meshheading:18372405-Ovarian Neoplasms,
pubmed-meshheading:18372405-Polymorphism, Single Nucleotide,
pubmed-meshheading:18372405-Quebec,
pubmed-meshheading:18372405-Risk Factors,
pubmed-meshheading:18372405-Sequence Homology, Amino Acid,
pubmed-meshheading:18372405-Transfection
|
| pubmed:year |
2008
|
| pubmed:articleTitle |
Mutation analysis and characterization of HSD17B2 sequence variants in breast cancer cases from French Canadian families with high risk of breast and ovarian cancer.
|
| pubmed:affiliation |
Cancer Genomics Laboratory, Oncology and Molecular Endocrinology Research Center, Centre Hospitalier Universitaire de Québec and Laval University, Quebec G1V 4G2, Canada.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|