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PTCH1 gene polymorphisms in ovarian tumors: potential protective role of c.3944T allele

Musani, Vesna; Sabol, Maja; Car, Diana; Ozretić, Petar; Kalafatić, Držislav; Maurac, Ivana; Orešković, Slavko; Levanat, Sonja (2013) PTCH1 gene polymorphisms in ovarian tumors: potential protective role of c.3944T allele. Gene, 517 (1). pp. 55-59. ISSN 0378-1119

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In this study we investigated the types and role of different genetic changes of PTCH1 gene in three different types of ovarian tumors: carcinomas, fibromas and dermoids. LOH of the PTCH1 region was detected in 27.3% ovarian carcinoma samples, 18.18% ovarian fibroma samples and 55.56% ovarian dermoid samples. No point mutations were detected in any of the three types of ovarian tumors. SNP c.3944C>T showed significant differences between ovarian carcinoma and control samples with the minor T allele being significantly higher in controls compared to ovarian carcinomas. Interestingly, a new polymorphism c.−1184G>A was found only in tumor samples and further analyses should be performed in order to elucidate its potential role in ovarian tumors.

Item Type: Article
Uncontrolled Keywords: PTCH1; polymorphism; LOH; ovarian tumors
Subjects: BIOMEDICINE AND HEALTHCARE > Basic Medical Sciences
Divisions: Division of Molecular Medicine
Project titleProject leaderProject codeProject type
Signal transduction in tumors: Hh-Gli interactions and therapeutic potential (Prijenos signala u tumorima: Hh-Gli put, interakcije i potencijalne terapije)-Sonja Levanat098-0982464-2461MZOS
Depositing User: Maja Sabol
Date Deposited: 30 Nov 2015 14:27
DOI: 10.1016/j.gene.2012.12.089

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