PI-PLCβ1 gene copy number alterations in breast cancer

• Published in: Oncology reports Vol. 27; no. 2; pp. 403 - 408
• Main Authors: MOLINARI, Chiara, MEDRI, Laura, FOLLO, Matilde Y, PIAZZI, Manuela, ADALGISA MARIANI, Giulia, CALISTRI, Daniele, COCCO, Lucio
• Format: Journal Article
• Language: English
• Published: Athens Spandidos 01.02.2012
• Subjects: Adult; Aged; Aged, 80 and over; Biological and medical sciences; Breast Neoplasms - genetics; Breast Neoplasms - metabolism; Breast Neoplasms - pathology; Female; Gene Dosage; Gene Expression Regulation, Neoplastic; Gynecology. Andrology. Obstetrics; Humans; Mammary gland diseases; Medical sciences; Middle Aged; Neoplasm Grading; Phenotype; Phospholipase C beta - genetics; RNA, Messenger - analysis; Tumors; Breast disease; Copy number; PI-PLCβ1; Chromosome; Breast cancer; Malignant tumor; Biological activity; Mammary gland diseases; Mitotic index; Cancerology; Gene; mitotic activity index; Fluorescence in situ hybridization; chromosome 20; Genetics; Molecular biology; Cancer
• ISSN: 1021-335X; 1791-2431
• DOI: 10.3892/or.2011.1529

Deregulation of signal transduction pathways frequently confers selective biological advantages to tumors. Phosphoinositides play an essential role in numerous cellular functions and, among the enzymes implicated in these processes, phosphoinositide-specific phospholipase C β1 (PI-PLCβ1) is one of the key regulators. In the present study, a fluorescence in situ hybridization (FISH) approach was used to investigate PI-PLCβ1 gene copy number alterations in various types of breast cancer differing in their invasiveness and proliferative activity, according to their mitotic index. At the molecular level, we also performed both real-time PCR and immunohistochemical analyses on PI-PLCβ1 to further investigate its expression in primary breast cancers. Finally, we analyzed the correlation between PI-PLCβ1 gene copy number and clinicopathological parameters. Our results show that most of our cases had aneusomies on the PI-PLCβ1 locus (20p12) and amplification of this specific region was the most frequent alteration observed. Our findings also indicate that the amplification of the region containing the PI-PLCβ1 gene was mostly related to the mitotic index, rather than to the invasion status. Finally, even though our case series is limited, PI-PLCβ1 gene amplification seems to be correlated to clinicopathological parameters.