A new paradigm of genetic testing for hereditary breast/ovarian cancers

INTRODUCTION: Genetic risk factors and family history play an important role in breast cancer development. This review aimed to summarise the current genetic testing approach to hereditary breast/ovarian cancer. METHODS: A systematic literature review was performed by searching the PubMed database. Publications available online until January 2015 that addressed issues related to hereditary breast/ovarian cancer genetic counselling/testing were selected. The search terms used were 'familial breast/ovarian cancer', 'susceptibility genes', 'genetic counselling', and 'genetic testing'. The data extracted for this review were analysed by the authors, with a focus on genetic testing for hereditary breast/ovarian cancer. RESULTS: Although a greater proportion of inherited breast/ovarian cancers are due to the BRCA1 and BRCA2 mutations, a number of new genes have emerged as susceptibility candidates, including rare germline mutations in high penetrance genes, such as TP53 and PTEN, and more frequent mutations in moderate/low penetrance genes, such as PALB2, CHEK2 and ATM. Multi-gene testing, if used appropriately, is generally a more cost- and time-effective method than single-gene testing, and may increase the number of patients who can be offered personal surveillance, risk-reduction options, and testing of high-risk family members. CONCLUSIONS: Recent advances in molecular genetics testing have identified a number of susceptibility genes related to hereditary breast and/or ovarian cancers other than BRCA1 and BRCA2. The introduction of multi-gene testing for hereditary cancer has revolutionised the clinical management of high-risk patients and their families. Individuals with hereditary breast/ovarian cancer will benefit from genetic counselling/testing.published_or_final_versio

Monitoring Slope Failure at Kadoorie Agricultural Research Centre with a 3D Laser Scanner

A loosely compacted fill slope with an angle of 33° was constructed at the Kadoorie Agricultural Research Centre of The University of Hong Kong. The height and width were 4.75 m and 9 m respectively. It was constructed by end-tipping method and resulted in a loose state with an initial dry density of 70% of the maximum dry density. Two rows of grouted nails were installed at a grid of 1.5 m x 1.5 m at an inclination of 20° from the horizontal. The slope was brought to failure by subjecting it to surcharge at the slope crest in combination with induced rise in groundwater table and precipitation. Heavy instrumentation comprised in-place inclinometer, vibrating wire piezometers, vibrating wire extensometer, earth pressure cell, tensiometer and strain gauges along soil nails and they had been monitored throughout the test. Surface movement was monitored using a GPS system and a 3D laser scanner. This paper focuses on the use of 3D laser scanner in capturing the formation of cracks and surface movement during the failure. It is found that by overlapping the point clouds generated from the scanner at different time intervals, the surface movement of the slope can be accurately recorded without the need of physically accessing the slope surface. When the slope reaches failure, the use of laser scanning can safely and quickly record the movement and dimension of washout and cracks, providing advantages over conventional survey method. This study shows that the movement obtained from the scanner agrees very well with that from conventional inclinometer reading at the surface. The travel distance of the surcharge block can be easily measured and point cloud can be easily modeled into geometrical shape for further rendering.published_or_final_versio

Performance and Fundamental Processes at Low Energy in a Two-Phase Liquid Xenon Dark Matter Detector

We extend the study of the performance of a prototype two-phase liquid xenon WIMP dark matter detector to recoil energies below 20 keV. We demonstrate a new method for obtaining the best estimate of the energies of events using a calibrated sum of charge and light signals and introduce the corresponding discrimination parameter, giving its mean value at 4 kV/cm for electron and nuclear recoils up to 300 and 100 keV, respectively. We show that fluctuations in recombination limit discrimination for most energies, and reveal an improvement in discrimination below 20 keV due to a surprising increase in ionization yield for low energy electron recoils. This improvement is crucial for a high-sensitivity dark matter search.Comment: 4 pages, 6 figures, submitted to DM06 conference proceedings in Nucl Phys

Authors' response

Author's Response to H.M. Heneghan, N. Miller, M.J. Kerin, Systemic microRNAs: novel biomarkers for colorectal and other cancers?, 2010, v. 59 n. 7, p. 1002-1004postprin

Large optical gain from four-wave mixing instabilities in semiconductor quantum wells

Based on a microscopic many-particle theory, we predict large optical gain in the probe and background-free four-wave mixing directions caused by excitonic instabilities in semiconductor quantum wells. For a single quantum well with radiative-decay limited dephasing in a typical pump-probe setup we discuss the microscopic driving mechanisms and polarization and frequency dependence of these instabilities

Slope Stability Evaluation for an Existing Steep Cut in Weathered Volcanics, Hong Kong

This case study concerns an investigation of a major existing soil slope. It is a 60m (197 ft) high cutting slope, at 40 degrees to 60 degrees to the horizontal, exhibiting a considerably greater degree of stability than was obtained by a series of geotechnical investigations and analyses. The common practice of correlation between widely spaced borings is shown to be inappropriate at this site because of the highly variable ground conditions. Rather, the comprehensive geological comprehensive engineering investigation carried out has enabled a detailed appreciation of the distribution and nature of weathered materials at the site. Transitional materials with soil-like appearance and weak rock properties have been identified. Based on this information, slope stability evaluation was carried out with more realistic results and with greater confidence

Detection of glaucoma in a cohort of chinese subjects with systemic hypertension

Purpose. To determine the presence and type of glaucoma in a cohort of adult Chinese subjects with systemic hypertension. Methods. This prospective cohort study included 200 hypertensive Chinese adults aged >40 years old who underwent screening via frequency doubling technology (FDT) perimetry and intraocular pressure (IOP) measurement by noncontact tonometry (NCT) in a general outpatient clinic. Those with IOP > 21 mmHg and/or visual field (VF) defects on FDT were referred for complete ophthalmological examination. The diagnosis of glaucoma was based on an abnormal VF on Humphrey Field Analyzer (HFA) by Hodapp-Parrish-Anderson's criteria and an increased vertical cup-disc ratio (VCDR). Results. The mean age of the subjects was 64.66 ± 9.47 years, and the male:female ratio was 92: 108. All patients were hypertensive with a mean blood pressure (BP) of 131.1 ± 15.1 / 76.6 ± 11.1 mmHg whilst on systemic antihypertensive medication. Of the 111 patients that had an abnormal initial screening, 14 (7.9%) were confirmed to have glaucoma with the highest prevalence of normal tension glaucoma (NTG) (6.2%), followed by primary angle closure glaucoma (PACG) (1.1%) and primary open angle glaucoma (POAG) (0.5%). The positive predictive value of FDT perimetry was 71%. Conclusion. Nearly 8% of the adults with systemic hypertension had glaucoma, and NTG was the most prevalent type. © 2013 Rita A. Gangwani et al.published_or_final_versio

Searching for the MSW Enhancement

We point out that the length scale associated with the MSW effect is the radius of the Earth. Therefore to verify matter enhancement of neutrino oscillations, it will be necessary to study neutrinos passing through the Earth. For the parameters of MSW solutions to the solar neutrino problem, the only detectable effects occur in a narrow band of energies from 5 to 10 MeV. We propose that serious consideration be given to mounting an experiment at a location within 9.5 degrees of the equator.Comment: 10 pages, RevTe

MiR-199a-5p confers tumor-suppressive role in triple-negative breast cancer

published_or_final_versio

Identification of BRCA1/2 germline mutations by integrated approach

This journal suppl. entitled: Primary Therapy of Early Breast Cancer: 14th St.Gallen International Breast Cancer ConferencePoster Presentation: P140postprin