In:
Journal of Molecular Endocrinology, Bioscientifica, Vol. 40, No. 4 ( 2008-01-21), p. 161-172
Abstract:
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 17β-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.
Type of Medium:
Online Resource
ISSN:
0952-5041
,
1479-6813
Language:
Unknown
Publisher:
Bioscientifica
Publication Date:
2008
detail.hit.zdb_id:
1478171-2
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