Abstract：
:Familial breast cancer is estimated to account for 15-20% of all cases of breast cancer. Surveillance for familial breast cancer is well-established world-wide. However, this service does not exist in Jordan, due to the scarcity of information with regard to the genetic profiling of these patients, and therefore lack of recommendations for policy-makers. As such, patients with very strong family history of breast or ovarian cancers are not screened routinely; leading to preventable delay in diagnosis. Whole coding sequencing for BCRA1/BCRA2 using next-generation sequencing (NGS)/Ion PGM System was performed. Sanger sequencing were then used to confirm the pathogenic variants detected by NGS. In this study, 192 breast cancer patients (and 8 ovarian cancer cases) were included. The prevalence of recurrent pathogenic mutations was 14.5%, while the prevalence of newly detected mutations was 3.5%. Two novel pathogenic mutations were identified in BRCA2 genes. The common mutations in the Ashkenazi population used for screening may not apply in the Jordanian population, as previously reported mutations were not prevalent, and other new mutations were identified. These data will aid to establish a specific screening test for BRCA 1/BRCA2 in the Jordanian population.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Abu-Helalah M,Azab B,Mubaidin R,Ali D,Jafar H,Alshraideh H,Drou N,Awidi Adoi
10.1038/s41598-020-74250-2subject
Has Abstractpub_date
2020-10-16 00:00:00pages
17573issue
1issn
2045-2322pii
10.1038/s41598-020-74250-2journal_volume
10pub_type
杂志文章abstract：:Multiple sources of sensory information are combined to develop hand posture percepts in the intact system, but the combination of multiple artificial somatosensory percepts by human prosthesis users has not been studied. Here, we report on a case study in which a person with transradial amputation identified prosthet...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-62970-4
更新日期：2020-04-20 00:00:00
abstract：:The ability to reprogram adult somatic cells into induced pluripotent stem cells (iPSCs) and the subsequent development of protocols for their differentiation into disease-relevant cell types have enabled in-depth molecular analyses of multiple disease states as hitherto impossible. Neurons differentiated from patient...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep28420
更新日期：2016-06-24 00:00:00
abstract：:In the three domains of life, vitamin B12 (cobalamin) is primarily used in methyltransferase and isomerase reactions. The methyltransferase complex MtrA-H of methanogenic archaea has a key function in energy conservation by catalysing the methyl transfer from methyl-tetrahydromethanopterin to coenzyme M and its coupli...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep28226
更新日期：2016-06-21 00:00:00
abstract：:The molecular structure of the hole transporting material (HTM) play an important role in hole extraction in a perovskite solar cells. It has a significant influence on the molecular planarity, energy level, and charge transport properties. Understanding the relationship between the chemical structure of the HTM's and...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-017-00271-z
更新日期：2017-03-10 00:00:00
abstract：:Several lines of evidence indicate that Fibronectin Extra Domain A (EDA) promotes metastatic capacity of tumor cells by engaging cell surface α9β1 integrins. This interaction mediated by the C-C loop of EDA activates pro-oncogenic signaling pathways leading to epithelial to mesenchymal transition (EMT) of tumor cells,...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep37151
更新日期：2016-11-16 00:00:00
abstract：:In a short nanobearing system made from carbon nanotubes, the rotor with high rotational frequency may escape from the stator, which may cause a stability problem to the system of a nanodevice with such a nanobearing. In the present work, nanobearings with tri-walled nanotubes are investigated to reveal the conditions...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-017-07184-x
更新日期：2017-07-28 00:00:00
abstract：:Luminance plays a modulating role in the processes of several visual tasks, which in turn provides significant information for the understanding of visual processing. Here, using a binocular phase combination paradigm, we studied the effect of unilateral changes in mean luminance on binocular combination in both norma...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep02012
更新日期：2013-01-01 00:00:00
abstract：:Although diatoms have been extensively studied as bioreactors, only a limited number of efficient gene promoters are available. Therefore, the development of new endogenous promoters is important for the heterologous production of a variety of recombinant proteins. Herein, we identified the most abundant secreted prot...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-019-45786-9
更新日期：2019-07-09 00:00:00
abstract：:Tumor cell-derived exosomes (TEX) suppress functions of immune cells. Here, changes in the gene profiles of primary human T lymphocytes exposed in vitro to exosomes were evaluated. CD4(+) Tconv, CD8(+) T or CD4(+) CD39(+) Treg were isolated from normal donors' peripheral blood and co-incubated with TEX or exosomes iso...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep20254
更新日期：2016-02-04 00:00:00
abstract：:The abrasion resistance of coated glass surfaces is an important parameter for judging lifetime performance, but practical testing procedures remain overly simplistic and do often not allow for direct conclusions on real-world degradation. Here, we combine quantitative two-dimensional image analysis and mechanical abr...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep17708
更新日期：2015-12-10 00:00:00
abstract：:This paper reports the presence of tear strips on the surface of a Ti-22Al-25Nb alloy sheet stretched at 960 °C. The test piece reveals a "bamboo"-shaped pattern on its surface, which severely affects the quality of the alloy. Microstructure analysis indicates that the formation mechanism of the tear strip is related ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-017-01889-9
更新日期：2017-05-10 00:00:00
abstract：:In contrast to mild infections of Group A Streptococcus (GAS) invasive infections of GAS still pose a serious health hazard: GAS disseminates from sterile sites into the blood stream or deep tissues and causes sepsis or necrotizing fasciitis. In this case antibiotics do not provide an effective cure as the bacteria ar...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-017-11276-z
更新日期：2017-09-18 00:00:00
abstract：:Automated patch clamp (APC) instruments enable efficient evaluation of electrophysiologic effects of drugs on human cardiac currents in heterologous expression systems. Differences in experimental protocols, instruments, and dissimilar site procedures affect the variability of IC50 values characterizing drug block pot...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-62344-w
更新日期：2020-03-27 00:00:00
abstract：:We present two transmission-mode dielectric Fresnel-Zone Plate Lens (FZPL) antennas for use within the V-band spectrum. The proposed FZPs are realized via pure plastic material using two different additive manufacturing processes. The proposed FZP lenses are designed with half (λ/2) and quarter (λ/4) phase correction ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-018-23179-8
更新日期：2018-03-28 00:00:00
abstract：:Emergent phases in the two-dimensional electron gas (2DEG) formed at the interface between two insulating oxides have attracted great attention in the past decade. We present ab-initio electronic structure calculations for the interface between a Mott insulator GdTiO3 (GTO) and a band insulator SrTiO3 (STO) and compar...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep18647
更新日期：2015-12-22 00:00:00
abstract：:We report the transient memory device by means of a water soluble SSG (solid sodium with glycerine) paper. This material has a hydroscopic property hence it can be soluble in water. In terms of physical security of memory devices, prompt abrogation of a memory device which stored a large number of data is crucial when...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep38324
更新日期：2016-12-05 00:00:00
abstract：:Plant seed germination is a crucial developmental event that has significant effects on seedling establishment and yield production. This process is controlled by multiple intrinsic signals, particularly phytohormones. The gaseous hormone ethylene stimulates seed germination; however, the genetic basis of ethylene pro...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-58607-1
更新日期：2020-02-03 00:00:00
abstract：:Living organisms dynamically and flexibly operate a great number of components. As one of such redundant control mechanisms, low-dimensional coordinative structures among multiple components have been investigated. However, structures extracted from the conventional statistical dimensionality reduction methods do not ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-019-53187-1
更新日期：2019-11-14 00:00:00
abstract：:Deep understanding of the effects of precipitation on carbon budgets is essential to assess the carbon balance accurately and can help predict potential variation within the global change context. Therefore, we addressed this issue by analyzing twelve years (2003-2014) of observations of carbon fluxes and their corres...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-017-10485-w
更新日期：2017-08-30 00:00:00
abstract：:The combustion of hydrocarbon fuels within the automotive industry results in harmful and reactive incomplete combustion byproducts. Specifically, nitric oxide emissions (NO) lead to increased smog, acid rain, climate change, and respiratory inflammation within the population [Nitrogen Dioxide | American Lung Associat...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-75360-7
更新日期：2020-10-30 00:00:00
abstract：:Traffic-related air pollution is known to be associated with skin aging manifestations. We previously found that the use of fossil fuels was associated with skin aging, but no direct link between indoor air pollutants and skin aging manifestations has ever been shown. Here we directly measured the indoor PM2.5 exposur...
journal_title：Scientific reports
pub_type： 临床试验,杂志文章
doi：10.1038/s41598-017-15295-8
更新日期：2017-11-10 00:00:00
abstract：:Amiodarone accumulates in the liver, where it increases x-ray attenuation due to its iodine content. We evaluated liver attenuation in patients treated and not treated with amiodarone using true-non-contrast (TNC) and virtual-non-contrast (VNC) images acquired with spectral-detector-CT (SDCT). 142 patients, of which 2...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-64002-7
更新日期：2020-04-24 00:00:00
abstract：:Psoriasis is a chronic, relapsing inflammatory skin disease. The pathogenesis of psoriasis is complex and has not been fully understood. C10orf99 was a recently identified human antimicrobial peptide whose mRNA expression is elevated in psoriatic human skin samples. In this study, we investigated the functional roles ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-018-26996-z
更新日期：2018-06-05 00:00:00
abstract：:Highly coordinated and coincidental patterns of activity-dependent mechanisms ("fire together wire together") are thought to serve as inductive signals during synaptogenesis, enabling neuronal pairing between specific sub-sets of excitatory partners. However, neither the nature of activity triggers, nor the "activity ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep09523
更新日期：2015-04-01 00:00:00
abstract：:Radix Astragali is commonly used in traditional Chinese medicine, and its quality is closely related to ecological factors, such as climate and soil, in the production area. To provide high-quality Radix Astragali to Chinese and foreign markets, we used maximum entropy model and statistical analysis method, combined w...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-69391-3
更新日期：2020-07-27 00:00:00
abstract：:In this study, a model assisted strategy is developed to control the distribution of colloids in porous media in the framework of nanoremediation, an innovative environmental nanotechnology aimed at reclaiming contaminated aquifers. This approach is exemplified by the delivery of humic acid-stabilized iron oxide nanop...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-017-13423-y
更新日期：2017-10-11 00:00:00
abstract：:Our aim was to evaluate intervention components of an alcohol reduction app: Drink Less. Excessive drinkers (AUDIT>=8) were recruited to test enhanced versus minimal (reduced functionality) versions of five app modules in a 25 factorial trial. Modules were: Self-monitoring and Feedback, Action Planning, Identity Chang...
journal_title：Scientific reports
pub_type： 杂志文章,随机对照试验
doi：10.1038/s41598-018-22420-8
更新日期：2018-03-12 00:00:00
abstract：:We analyze the entire publication database of the American Physical Society generating longitudinal (50 years) citation networks geolocalized at the level of single urban areas. We define the knowledge diffusion proxy, and scientific production ranking algorithms to capture the spatio-temporal dynamics of Physics know...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep01640
更新日期：2013-01-01 00:00:00
abstract：:While safety of fasting therapy is debated in humans, extended fasting occurs routinely and safely in wild animals. To do so, food deprived animals like breeding penguins anticipate the critical limit of fasting by resuming feeding. To date, however, no molecular indices of the physiological state that links spontaneo...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep39008
更新日期：2016-12-19 00:00:00
abstract：:Recently proposed tumor fitness measures, based on profiling neoepitopes for reactive viral epitope similarity, have been proposed to predict response to immune checkpoint inhibitors in melanoma and small-cell lung cancer. Here we applied these checkpoint based fitness measures to the matched checkpoint treatment naiv...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-61992-2
更新日期：2020-03-19 00:00:00
