A Mutation in the 5´ Untranslated Region of the BRCA1 Gene in Sporadic Breast Cancer Causes Downregulation of Translation Efficiency  

Oleh:

Wang, J. ; Lu, C. ; Min, D. ; Wang, Z. ; Ma, X.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The Journal of International Medical Research vol. 35 no. 04 (Jul. 2007), page 564-573.
Topik: 5´ Untranslated Region of the BRCA1 Gene; sporadic breast cancer; translation

Ketersediaan

Perpustakaan FK Nomor Panggil: J11.K.2007.01 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

We screened 117 breast tumour samples in Chinese females for mutations in the breast cancer 1 (BRCA1) gene and identified a novel mutation in the 5´ untranslated region (5´ UTR) in two patients with grade III infiltrating ductal breast carcinoma. We examined whether this 5´ UTR mutation affected the translational efficiency of BRCA1 protein. A vector was constructed containing the mutated 5´ UTR up-stream of luciferase and we compared its translational efficiency with a wild-type 5´ UTR. The expression of BRCA1 protein in breast tumour samples was evaluated using immunohistochemistry. The mutated 5´ UTR of BRCA1 resulted in less luciferase activity compared with the wild-type 5´ UTR, while there were no significant differences in luciferase mRNA levels. BRCA1 protein was much less expressed in breast tumour tissue from patients with the 5´ UTR mutation than in samples from patients without the mutation. Our results show that a mutation in the 5´ UTR of the BRCA1 gene downregulates translational efficiency of the protein.

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