PTCH1 gene polymorphisms in ovarian tumors: Potential protective role of c.3944T allele |
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Authors: | Vesna Musani Maja Sabol Diana Car Petar Ozretić Držislav Kalafatić Ivana Maurac Slavko Orešković Sonja Levanat |
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Institution: | 1. Division of Molecular Medicine, Rudjer Boskovic Institute, Bijenicka cesta 54, 10002 Zagreb, Croatia;2. Department of Obstetrics and Gynecology, Zagreb University School of Medicine, Petrova 13, 10000 Zagreb, Croatia |
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Abstract: | 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. |
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Keywords: | BCCs Basal cell carcinomas Hh Hedgehog HWE Hardy&ndash Weinberg equilibrium LOH Loss of heterozygosity MHC Major histocompatibility complex OC Ovarian carcinoma OD Ovarian dermoid OF Ovarian fibroma PTCH1 Patched SSD Sterol-sensing domain STR Short tandem repeat UTR Untranslated region WHO World Health Organization |
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