Browsing by Author "Sabuncu, Ahmet"
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Item Single nucleotide variations of the canine RAD51 domains, which directly binds PALB2 and BRCA2(Hokkaido University, 2016-03-16) Özmen, Özge; Kul, Selim; Rişvanlı, Ali; Sabuncu, Ahmet; Kul, Oğuz; Özalp, Gözde Rabia; Uludağ Üniversitesi/Veteriner Fakültesi.; 0000-0003-4694-6937; AAE-3607-2019; 23985710500Tumors of the mammary glands are the most common tumors to affect entire female dogs representing between 50-70% of all tumors types, which is three times higher rate of incidence than humans. No other animal species has such high probability of onset of mammary tumors. Homologous recombination (HR) is the most important double-strand breaks (DSBs) repair mechanisms of DNA and RAD51 plays an important role in this repair mechanism. The tumor suppressors RAD51, BRCA2 and PALB2 act together to initiate the chromosomal lesions repair. BRCA2 and PALB2 mutations lead to destabilization of the genome and engender cancer risk. PALB2 binds to DNA and associates with the RAD51 recombinase. In this study we investigate the genetic variations in RAD51 gene, which directly interactions with PALB2 and BRCA2 domains. From a total of 64 canine patients with mammary tumors, 31 mammary tumors with benign and malign carcinomas and the 3 normal mammary glands were used for the study. We have identified 2 SNPs (Single Nucleotide Polymorphisms) and 7 SNVs (Single Nucleotide Variants) in canine RAD51 exon 7- intron 9 regions, among them 7 SNVs and 1 SNPs were detected for the first time in this study.Item Somatic SNPs of the BRCA2 gene at the fragments encoding RAD51 binding sites of canine mammary tumors(Wiley, 2017-12) Özmen, Özge; Kul, Selim; Rişvanlı, Ali; Sabuncu, Ahmet; Kul, Oǧuz; Özalp, Gözde Rabia; Uludağ Üniversitesi/Veteriner Fakültesi.; 0000-0003-4694-6937; AAE-3607-2019; 23985710500Mammary tumors are the most common tumor type both in women and in female dogs. In women, heritable breast cancers have been linked mutations in the breast cancer susceptibility gene BRCA2 and it contains eight BRC repeats in exon 11 that bind to RAD51. In this study, we investigated the sequence variations of BRC1-BRC8 and C-terminus of canine BRCA2 gene. From a total of 64 canine patients with mammary tumors, 31 mammary tumors with benign and malign carcinomas and the 3 normal mammary glands were used for the study. In this study, 19 SNPs of exon 11 of BRCA2 in canine mammary tumors were detected for the first time. The c.2383A>C (T1425P) SNP was found to be the most probable disease-associated nsSNP. Our findings suggest that T1425P variation in BRC3 to be the most probable disease-associated nsSNP and may affect RAD51 binding strength.