Broadening Criteria for BRCA1/2 Evaluation

Pathogenic variants (ie, mutations) in the breast cancer susceptibility 1 and 2 (BRCA1/2) genes are associated with a high risk of ovarian and female breast cancer as well as, particularly for BRCA2, elevated risks of male breast cancer, aggressive prostate cancer, and pancreatic cancer. The risks of ovarian cancer and breast cancer are as high as 45% and 70%, respectively. The detection of a BRCA1/2 pathogenic variant can significantly alter medical management (by early detection or risk reduction strategies) and improve outcomes.
Source: JAMA - Category: General Medicine Source Type: research

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AbstractThe activity concentrations of natural radionuclides from the238U and232Th series and singly occurring radionuclide40K have been assessed in most commonly used building materials in Kannur district, Kerala, using well established gamma ray spectrometry employing 5  cm × 5 cm scintillation NaI (Tl) detector. The results of the present work include activities of radionuclides viz.40K,226Ra and232Th and associated radiological parameters. The important and expected significant parameters estimated from the activities were radium equivalent activity (Raeq), hazard indexes and dose paramete...
Source: Journal of Radioanalytical and Nuclear Chemistry - Category: Nuclear Medicine Source Type: research
Publication date: 15 January 2020Source: Materials Chemistry and Physics, Volume 240Author(s): Noe Zamora-Romero, Miguel A. Camacho-Lopez, Alfredo R. Vilchis-Nestor, Victor H. Castrejon-Sanchez, Guillermo Aguilar, Santiago Camacho-Lopez, Marco Camacho-LopezAbstractPhothermal therapy (PTT) is one of the most promising techniques to treat cancer. Finding the ideal PTT agent nanomaterial has remained a challenge and has brought the interest of several researchers. In this work, we report the synthesis of molybdenum oxide (MoOx) nanoparticles (NPs), which exhibit absorption in the biological optical window ~840 nm, by usi...
Source: Materials Chemistry and Physics - Category: Materials Science Source Type: research
Publication date: Available online 17 September 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Rebekah J. Hutcherson, Michael G. KempAbstractThe ATR protein kinase is known to protect cells from DNA damage induced during the replicative phase of the cell cycle. Small molecule ATR kinase inhibitors have therefore been developed to improve the effectiveness of DNA damage-based chemotherapy regimens aimed at killing rapidly proliferating tumor cells. However, whether ATR functions in a similar manner in non-replicating cells has not been examined and is important considering the fa...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - Category: Cytology Source Type: research
Publication date: 17 September 2019Source: Cell Reports, Volume 28, Issue 12Author(s): Carlos Zeledon, Xiaojuan Sun, Cédric Plutoni, Gregory EmerySummaryCollective cell migration is involved in various developmental and pathological processes, including the dissemination of various cancer cells. During Drosophila melanogaster oogenesis, a group of cells called border cells migrate collectively toward the oocyte. Herein, we show that members of the Arf family of small GTPases and some of their regulators are required for normal border cell migration. Notably, we found that the ArfGAP Drongo and its GTPase-activating ...
Source: Cell Reports - Category: Cytology Source Type: research
Publication date: 17 September 2019Source: Cell Reports, Volume 28, Issue 12Author(s): Erik R. Abels, Sybren L.N. Maas, Lisa Nieland, Zhiyun Wei, Pike See Cheah, Eric Tai, Christy-Joy Kolsteeg, Sophie A. Dusoswa, David T. Ting, Suzanne Hickman, Joseph El Khoury, Anna M. Krichevsky, Marike L.D. Broekman, Xandra O. BreakefieldSummaryGliomas are primary, diffusely infiltrating brain tumors. Microglia are innate immune cells in the CNS and make up a substantial portion of the tumor mass. Glioma cells shape their microenvironment, communicating with and reprogramming surrounding cells, resulting in enhanced angiogenesis, immune...
Source: Cell Reports - Category: Cytology Source Type: research
Publication date: 17 September 2019Source: Cell Reports, Volume 28, Issue 12Author(s): Christine E. Nelson, Emily A. Thompson, Clare F. Quarnstrom, Kathryn A. Fraser, Davis M. Seelig, Siddheshvar Bhela, Brandon J. Burbach, David Masopust, Vaiva VezysSummaryThe immune system adapts to constitutive antigens to preserve self-tolerance, which is a major barrier for anti-tumor immunity. Antigen-specific reversal of tolerance constitutes a major goal to spur therapeutic applications. Here, we show that robust, iterative, systemic stimulation targeting tissue-specific antigens in the context of acute infections reverses establish...
Source: Cell Reports - Category: Cytology Source Type: research
This study aims to investigate the antiproliferative activity and potential mechanism of action of the xanthoquinodin JBIR-99, isolated from fungi Parengyodontium album MEXU 30,054 and identified by single-crystal X-ray crystallography. Cytotoxicity of xanthoquinodin was evaluated in a panel of human cancer cells lines and CCD-112-CoN normal colon cells, using the sulforhodamine B assay. PC-3 prostate cancer cells were used in biochemical assays including cell cycle, mitochondrial transmembrane potential (MTP), reactive oxygen species (ROS) and caspase activity. Expression levels of apoptosis-pathway-related proteins were ...
Source: Chemico-Biological Interactions - Category: Molecular Biology Authors: Tags: Chem Biol Interact Source Type: research
ConclusionsThese results compare favourably to those reported by ECCG. Minimally Invasive esophagectomy can be the standard approach for surgical management of esophageal cancer. Introduction of the approach in each surgeon’s practice should be benchmarked to international standards.
Source: The Annals of Thoracic Surgery - Category: Cardiovascular & Thoracic Surgery Source Type: research
SYL3C aptamer-anchored microemulsion co-loading β-elemene and PTX enhances the treatment of colorectal cancer. Drug Deliv. 2019 Dec;26(1):886-897 Authors: Zhou X, Cao C, Li N, Yuan S Abstract The aim of this study is to construct a SYL3C aptamer-anchored microemulsion based on β-elemene and PTX (SYL3C/EP-MEs) for enhancement on colorectal cancer therapy. Such microemulsion is consist of encapsulated drugs (β-elemene and PTX), tumor targeting ligand (3'-end thiolated SYL3C aptamer), thiol conjugated site (maleimide-modified PEGylated 1,2-dioleoyl-sn-glycero-3-phosphoethanolamine, mal-DOPE...
Source: Drug Delivery - Category: Drugs & Pharmacology Tags: Drug Deliv Source Type: research
Germline mutations in the BRCA genes are associated with highly increased risk of breast and ovarian cancers and to a lesser extent to prostate and pancreatic cancers. Great number of mutations with variable impact on cancer risk and progression are known in these genes worldwide. A single founder mutation has been detected in each of the BRCA genes in the Icelandic population, making it feasible to study the influence of a single mutation at a population level. The BRCA2999del5 mutation is more frequent and can be found in approximately 6-7% of female breast cancer patients and 40% of male breast cancer patients in Icelan...
Source: Molecular Cancer Research - Category: Cancer & Oncology Authors: Tags: Genomics - Sporadic and Hereditary: Poster Presentations - Proffered Abstracts Source Type: research
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