Search

OBJECTIVE: Breast cancer (BC) is the most common cancer type in women and may be inherited, mostly in an autosomal dominant pattern. The clinical diagnosis of BC relies on the published diagnostic criteria, and analysis of two genes, BRCA1 and BRCA2, which are strongly associated with BC, are included in these criteria. The aim of this study was to compare BC index cases with non-BC individuals in terms of genotype and diagnostic features to investigate the genotype/demographic information association. MATERIALS AND METHODS: Mutational analyses for the BRCA1/BRCA2 genes was performed in 2475 individuals between 2013-2022 from collaborative centers across Turkey, of whom 1444 with BC were designated as index cases. RESULTS: Overall, mutations were identified in 17% (421/2475), while the percentage of mutation carriers in cases of BC was similar, 16.6% (239/1444). BRCA1/BRCA2 gene mutations were detected in 17.8% (131/737) of familial cases and 12% (78/549) of sporadic cases. Mutations in BRCA1 were found in 4.9%, whereas 12% were in BRCA2 (p

Svrha rada bila je ispitati genetsku nestabilnost limfocita iz perifernog krvotoka primjenom razmjene sestrinskih kromatida (SCE-a) kod pacijenata sa Sjögrenovim sindromom (SS-om). Pacijenti i metode: ispitano je koliko je čest SCE (po metafazi) kod pacijenata s primarnim Sjögrenovim sindromom (n=30), zatim kod neliječenih pacijenata (n=15) i među zdravim pojedincima (n=15) u kontrolnim skupinama. Rezultati: vrijednosti srednje učestalosti SCE-a koje smo dobili za pacijente sa SSom, kod onih s neliječenim limfomom i kod zdravih u kontrolnoj skupini, iznosile su 7,77±1,50, 8,80±0,75 i 6,65±1,50. Dobili smo statistički znatne razlike između pacijenata sa SS-om i onih s limfomom (p=0,007) te između pacijenata s limfomom i zdravih sudionika iz kontrolnih skupina (p=0,0001). Nisu zapažene statistički velike razlike između pacijenata sa SS-om i onih u kontrolnim skupinama, s obzirom na srednju čestoću SCE-a (po metafazi). Zaključak: poznato je da se kod oko pet posto svih pacijenata sa SS-om mogu razviti limfomi. Česti SCE smatra se citogenetskim biomarkerom ranoga mutagenog učinka koji upućuje na povećani rizik od raka. Uočili smo da su vrijednosti srednje učestalosti razmjene sestrinskih kromatida (po metafazi) kod triju pacijenata sa SS-om bile više u odnosu prema vrijednostima ustavnovljenima kod pacijenata s neliječenim limfomom. Rezultat se može provjeriti procjenom drugih parametara s važnom zadaćom u malignoj transformaciji., Purpose: To investigate genomic instability by using Sister Chromatid Exchange (SCE) in the peripheral blood lymphocytes in patients with Sjögren’s syndrome (SS). Patients and Methods: The frequency of SCE (per metaphase) was investigated in patients with primary Sjögren’s Syndrome (n=30), in untreated lymphoma patients (n=15) and healthy individuals (n=15) who constitute the control groups. Results: We found the mean frequencies of SCE in the patients with SS, untreated lymphoma and healthy controls as 7.77±1.50, 8.80±0.75, 6.65±1.50, respectively. We found statistically significant differences between patients with SS and lymphoma (p=0.007) and also between patients with lymphoma and healthy controls (p=0.0001). No significant difference was observed between patients with SS and healthy controls in regard of mean frequencies of SCE (per metaphase). Conclusion: It is well known that up to 5.0% of all SS patients may develop lymphoma. High frequency of SCE is regarded as a cytogenetic biomarker of early mutagenic effect suggesting increased risk of cancer. We observed that the mean frequencies of sister chromatid exchanges (per metaphase) of three patients with SS were higher than those of untreated lymphoma patients. This result can only be verified by prolonged follow-up of these patients. We suggest that results should be interpreted by evaluating other parameters which play important roles in malignant transformation.