Identification of novel alternatively spliced BRCA1-associated RING domain (BARD1) messenger RNAs in human peripheral blood lymphocytes and in sporadic breast cancer tissues
✍ Scribed by Grazia Lombardi; Elisabetta Falaschi; Claudio Di Cristofano; Antonio Giuseppe Naccarato; Elisa Sensi; Paolo Aretini; Manuela Roncella; Generoso Bevilacqua; Maria Adelaide Caligo
- Book ID
- 102220892
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 161 KB
- Volume
- 46
- Category
- Article
- ISSN
- 1045-2257
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✦ Synopsis
Abstract
BARD1 (BRCA1‐associated RING domain) is the dominant binding partner of BRCA1 in vivo. The BARD1 gene has been reported to be mutated in a subset of breast and ovarian cancer patients and BARD1 germ‐line mutations have been identified in breast cancer patients negative for BRCA1 or BRCA2 gene alterations. In the present study, we show by RT‐PCR and direct sequencing analysis the occurrence of seven novel and one previously identified BARD1 splicing variants in human lymphocytes and breast cancers. Two of the eight variants (BARD1δ and BARD1 ΔRIN) preserve a correct open reading frame and could encode BARD1 internally deleted proteins, while the remaining six variants display premature stop codons. Characterization of the relative expression of BARD1 FL, BARD1δ, and BARD1 ΔRIN using quantitative PCR analysis indicated that the mean expression levels of BARD1 FL, BARD1δ, and BARD1 ΔRIN were significantly higher in tumors than in morphologically normal tissues and lymphocytes. However, we were unable to identify either qualitatively or quantitatively tumor‐specific expression patterns of the identified BARD1 splicing variants. © 2007 Wiley‐Liss, Inc.