title: PI-PLCβ1 gene copy number alterations in breast cancer.
abstract: 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.
authors.affiliation: Biosciences Laboratory, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori, Via P. Maroncelli 40, I-47014 Meldola (FC), Italy. c.molinari@irst.emr.it
authors.forename: Chiara
authors.initials: C
authors.lastname: Molinari
authors.forename: Laura
authors.initials: L
authors.lastname: Medri
authors.forename: Matilde Y
authors.initials: MY
authors.lastname: Follo
authors.forename: Manuela
authors.initials: M
authors.lastname: Piazzi
authors.forename: Giulia Adalgisa
authors.initials: GA
authors.lastname: Mariani
authors.forename: Daniele
authors.initials: D
authors.lastname: Calistri
authors.forename: Lucio
authors.initials: L
authors.lastname: Cocco
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001943:Breast Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005260:Female; D018628:Gene Dosage; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D008875:Middle Aged; D060787:Neoplasm Grading; D010641:Phenotype; D054799:Phospholipase C beta / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis
chemical_list: D012333:RNA, Messenger; C518033:PLCB1 protein, human; D054799:Phospholipase C beta