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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
Author(s) -
Hisatomi Hisashi,
Kohno Norio,
Wakita Kazuyuki,
Nagao Kumi,
Hirata Hiroyuki,
Hikiji Kazumasa,
Harada Shoji
Publication year - 2003
Publication title -
international journal of cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.475
H-Index - 234
eISSN - 1097-0215
pISSN - 0020-7136
DOI - 10.1002/ijc.11050
Subject(s) - progesterone receptor , breast cancer , exon , messenger rna , cancer research , biology , cancer , gene , microbiology and biotechnology , receptor , genetics , estrogen receptor
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.