Published in:
01-06-2005 | Poster Presentation
Identification of novel sequence alterations and the functional analysis of the BRCA1 promoter/5'-UTR in families from Upper Silesia, Poland
Authors:
J Pamuła, M Krześniak, H Zientek, WP Pękala, M Rusin, E Grzybowska
Published in:
Breast Cancer Research
|
Special Issue 2/2005
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Excerpt
The human BRCA1 gene is under transcriptional control of two alternative promoters, α and β, that drive the transcription of exon 1a or exon 1b, respectively. Additionally, the 5'-UTR region, encompassing both exons 1, contains multiple putative and functional regulatory sequences. At the RNA level each exon 1 is linked, by splicing, with exon 2 that contains the translation start site. The aim of this study was to search for sequence alterations within the BRCA1 promoter and 5'-UTR in patients with breast and/or ovarian cancer, and to assess whether these sequence variants influence activity of the BRCA1 promoter region. …