A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer

Germline mutations in the two breast cancer susceptibility genes, BRCA1 and BRCA2 account for a significant portion of hereditary breast/ovarian cancer. De novo mutations such as multiple exon deletion are rarely occurred in BRCA1 and BRCA2. During our mutation screening for BRCA1/2 genes to Chinese women with risk factors for hereditary breast/ovarian cancer, we identified a novel germline mutation, consisting of a deletion from exons 1 to 12 in BRCA1 gene, in a patient diagnosed with early onset triple negative breast cancer with no family history of cancer. None of her parents carried the mutation and molecular analysis showed that this novel de novo germline mutation resulted in down-regulation of BRCA1 gene expression

Large-scale validation of combined plasma miR-145 and miR451.

<p>(<i>A</i>) Box plot of combined plasma miR-145 and miR-451 levels in patients of breast cancer (BC), healthy normal (N), colorectal cancer (CRC), esophagus cancer (EC), gastric cancer (GC), hepatocellular carcinoma (HCC) and lung cancer (LC). Expression levels of the miRNAs (Log10 scale at Y-axis) are calculated by the equation 2^-ΔCt. ΔCt was calculated by subtracting the Ct values of miR-145 from the Ct values of the miR-451. The lines inside the boxes denote the medians. The boxes mark the interval between the 25^th and 75^th percentiles. The whiskers denote the interval between the 10^th and 90^th percentiles. Filled circles indicate data points outside the 10^th and 90^th percentiles. Statistically significant differences were determined using Mann-Whitney tests. (<i>B</i>) ROC analysis using combined plasma miR-451 and miR-145 for discriminating breast cancer from normal subjects and other cancers.</p

Schematic diagram of the workflow of this study.

<p>Schematic diagram of the workflow of this study.</p

ROC curve analysis using (<i>A</i>) plasma miR-16, (<i>B</i>) plasma miR-21, (<i>C</i>) plasma miR-451 (<i>D</i>) miR-145 for discriminating breast cancer from normal subjects.

<p>ROC curve analysis using (<i>A</i>) plasma miR-16, (<i>B</i>) plasma miR-21, (<i>C</i>) plasma miR-451 (<i>D</i>) miR-145 for discriminating breast cancer from normal subjects.</p

Patient characteristics.

<p>BC: breast cancer; CRC: colorectal cancer; EC: esophagus cancer; GC: gastric cancer; LC: lung cancer; HCC: hepatocellular carcinoma.</p

DIII-D research towards establishing the scientific basis for future fusion reactors

DIII-D research is addressing critical challenges in preparation for ITER and the next generation of fusion devices through focusing on plasma physics fundamentals that underpin key fusion goals, understanding the interaction of disparate core and boundary plasma physics, and developing integrated scenarios for achieving high performance fusion regimes. Fundamental investigations into fusion energy science find that anomalous dissipation of runaway electrons (RE) that arise following a disruption is likely due to interactions with RE-driven kinetic instabilities, some of which have been directly observed, opening a new avenue for RE energy dissipation using naturally excited waves. Dimensionless parameter scaling of intrinsic rotation and gyrokinetic simulations give a predicted ITER rotation profile with significant turbulence stabilization. Coherence imaging spectroscopy confirms near sonic flow throughout the divertor towards the target, which may account for the convection-dominated parallel heat flux. Core-boundary integration studies show that the small angle slot divertor achieves detachment at lower density and extends plasma cooling across the divertor target plate, which is essential for controlling heat flux and erosion. The Super H-mode regime has been extended to high plasma current (2.0 MA) and density to achieve very high pedestal pressures (similar to 30 kPa) and stored energy (3.2 MJ) with H-98y2 approximate to 1.6-2.4. In scenario work, the ITER baseline Q = 10 scenario with zero injected torque is found to have a fusion gain metric beta(TE) independent of current between q(95) = 2.8-3.7, and a lower limit of pedestal rotation for RMP ELM suppression has been found. In the wide pedestal QH-mode regime that exhibits improved performance and no ELMs, the start-up counter torque has been eliminated so that the entire discharge uses approximate to 0 injected torque and the operating space is more ITER-relevant. Finally, the high-beta(N) (<= 3.8) hybrid scenario has been extended to the high-density levels necessary for radiating divertor operation, achieving similar to 40% divertor heat flux reduction using either argon or neon with P-tot up to 15 MW