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

Autori
Musani, Vesna ; Sabol, Maja ; Car, Diana ; Ozretić, Petar ; Kalafatić, Držislav ; Maurac, Ivana ; Orešković, Slavko ; Levanat, Sonja

Izvornik
Gene (0378-1119) 517 (2013), 1; 55-59

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
PTCH1; polymorphism; LOH; ovarian tumors

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA