title: PTCH1 gene polymorphisms in ovarian tumors: potential protective role of c.3944T allele.
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.
authors: Division of Molecular Medicine, Rudjer Boskovic Institute, Bijenicka cesta 54, 10002 Zagreb, Croatia.
authors: Vesna
authors: V
authors: Musani
authors: Maja
authors: M
authors: Sabol
authors: Diana
authors: D
authors: Car
authors: Petar
authors: P
authors: Ozretić
authors: Držislav
authors: D
authors: Kalafatić
authors: Ivana
authors: I
authors: Maurac
authors: Slavko
authors: S
authors: Orešković
authors: Sonja
authors: S
authors: Levanat
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D003884:Dermoid Cyst / Q000097:blood / Q000235:genetics* / Q000473:pathology; D005260:Female; D005350:Fibroma / Q000097:blood / Q000235:genetics* / Q000473:pathology; D006801:Humans; D019656:Loss of Heterozygosity; D009367:Neoplasm Staging; D010051:Ovarian Neoplasms / Q000097:blood / Q000235:genetics* / Q000473:pathology; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D017354:Point Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D011379:Prognosis; D011956:Receptors, Cell Surface / Q000235:genetics*
chemical_list: C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface