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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. Copyright © 2013 Elsevier B.V. All rights reserved.

Citation

Vesna Musani, Maja Sabol, Diana Car, Petar Ozretić, Držislav Kalafatić, Ivana Maurac, Slavko Orešković, Sonja Levanat. PTCH1 gene polymorphisms in ovarian tumors: potential protective role of c.3944T allele. Gene. 2013 Mar 15;517(1):55-9

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PMID: 23313819

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