Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland

Background Mutations in the BRCA1, BRCA2 and PALB2 genes are well-established risk factors for the development of breast and/or ovarian cancer. The frequency and spectrum of mutations in these genes has not yet been examined in the population of Southern Poland. Methods We examined the entire coding sequences of the BRCA1 and BRCA2 genes and genotyped a recurrent mutation of the PALB2 gene (c.509_510delGA) in 121 women with familial and/or early-onset breast or ovarian cancer from Southern Poland. Results A BRCA1 mutation was identified in 11 of 121 patients (9.1 %) and a BRCA2 mutation was identified in 10 of 121 patients (8.3 %). Two founder mutations of BRCA1 accounted for 91 % of all BRCA1 mutation carriers (c.5266dupC was identified in six patients and c.181 T > G was identified in four patients). Three of the seven different BRCA2 mutations were detected in two patients each (c.9371A > T, c.9403delC and c.1310_1313delAAGA). Three mutations have not been previously reported in the Polish population (BRCA1 c.3531delT, BRCA2 c.1310_1313delAAGA and BRCA2 c.9027delT). The recurrent PALB2 mutation c.509_510delGA was identified in two patients (1.7 %). Conclusions The standard panel of BRCA1 founder mutations is sufficiently sensitive for the identification of BRCA1 mutation carriers in Southern Poland. The BRCA2 mutations c.9371A > T and c.9403delC as well as the PALB2 mutation c.509_510delGA should be included in the testing panel for this population

Effect of Cation Substitution in "123"-type Superconducting Oxides on Powder Diffraction Intensities

This research was undertaken to determine whether by powder diffraction substitution in the "123"-type high T$\text{}_{c}$ oxides, Ln$\text{}_{1-x}$M$\text{}_{x}$Ba$\text{}_{2-y}$M$\text{}_{y}$Cu$\text{}_{3-z}$M$\text{}_{z}$O$\text{}_{6.5+δ}$ (where Ln = lanthanoid, M$\text{}_{x}$ = Me$\text{}^{3+}$, M$\text{}_{y}$ = Me$\text{}^{3+}$ and M$\text{}_{z}$ = Me$\text{}^{3+}$ and Me$\text{}^{2+}$) could be detected unequivocally. Numerous X-ray and a few neutron powder diffractograms were calculated for substituted compounds. Reflections most sensitive to substitution and the influence of site occupancy for Cu and O atoms are also characterized. The results are compared with some experimental data reported in the literature

Crystal structure evolution of BaBrCl and BaBrCl:5%Eu up to 1073 K by neutron diffraction

BaBrCl:Eu is a promising scintillator material; however, the crystal growth yield must be improved for it to become commercially viable. This study measures strain accumulations in the crystal lattice which can contribute to cracking during post-growth cooling. Neutron diffraction is used to measure the crystal structure of undoped and 5 mol% europium-doped BaBrCl from 303 to 1073 K, approaching the melting point. Rietveld analysis of these data provides the temperature dependence of the thermal and chemical strain in BaBrCl. In particular, anisotropic thermal expansion is measured, with expansion along the b axis nearly double the expansion along the a and c axes. Additionally, the chemical strain from the incorporation of europium atoms peaks around 673 K, explaining cracking frequently observed in that temperature range