13 research outputs found
Ocular perfusion pressure and color Doppler imaging of the external ophthalmic artery of rabbits treated with sildenafil citrate
Acute phase effect of trichloroethylene ingestion on some biological markers in dogs
Trichloroethylene (TE) is an environmental toxic solvent hazardous to human and domestic animals and well known in the industrial sector. The purpose of this study was to determine whether oral TE plays a role in lipid oxidation and tissue damage. Fourteen dogs were treated with an oral toxic dose of 0.5 ml/kg T.E
Changes in peak systolic velocity induced by chronic therapy with phosphodiesterase type-5 inhibitor
Shear bond strength of veneer ceramic and colored zirconia by using aqueous metal chloride solutions
Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey
BRCA1/2 mutations play a significant role in cancer pathogenesis and predisposition particularly in breast, ovarian and prostate cancers. Thus, germline analysis of BRCA1 and BRCA2 is essential for clinical management strategies aiming at the identification of recurrent and novel mutations that could be used as a first screening approach. We analyzed germline variants of BRCA1/2 genes for 2168 individuals who had cancer diagnosis or high risk assessment due to BRCAs related cancers, referred to 10 health care centers distributed across 7 regions covering the Turkish landscape. Overall, 68 and 157 distinct mutations were identified in BRCA1 and BRCA2, respectively. Twenty-two novel variants were reported from both genes while BRCA2 showed higher mutational heterogeneity. We herein report the collective data as BRCA Turkish consortium that confirm the molecular heterogeneity in BRCAs among Turkish population, and also as the first study presenting the both geographical, demographical and gene based landscape of all recurrent and novel mutations which some might be a founder effect in comparison to global databases. This wider perspective leads to the most accurate variant interpretations which pave the way for the more precise and efficient management affecting the clinical and molecular aspects
