Novel alternatively spliced variant with a deletion of 52 BP in exon 6 of the progesterone receptor gene is observed frequently in breast cancer tissues
✍ Scribed by Hisashi Hisatomi; Norio Kohno; Kazuyuki Wakita; Kumi Nagao; Hiroyuki Hirata; Kazumasa Hikiji; Shoji Harada
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- French
- Weight
- 301 KB
- Volume
- 105
- Category
- Article
- ISSN
- 0020-7136
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✦ Synopsis
Abstract
The human progesterone receptor (PR) is a ligand‐activated nuclear transcription factor that mediates progesterone action in target tissues. We found a novel alternatively spliced variant (ASV) of the PR mRNA in breast cancer tissues. The deleted transcript was characterized by an out‐of‐frame deletion of 52 bp in exon 6 (PR delta6/2 ASV). The PR delta6/2 ASV mRNA results in a partial defect in the region of the ligand‐binding domain of the hormone receptor, where conserved residues are missing from the core of the protein. To clarify the clinical significance of the PR delta6/2 ASV, we investigated the expression of this ASV in noncancerous and cancerous tissues from patients with breast cancer using RT‐PCR. The novel PR delta6/2 mRNA was detected in 24 of 39 (61.5%) cancerous tissues and in 3 of 39 (7.7%) noncancerous tissues from patients with breast cancer. PR delta6/2 ASV mRNA was expressed more frequently in breast cancer tissues than in noncancerous tissues (p < 0.0001), which suggests a possible relationship between the expression of PR delta6/2 and breast cancer. Our observations may provide a novel strategy for the genetic diagnosis of breast cancer. © 2003 Wiley‐Liss, Inc.