Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity

ConclusionsCMMRD is rare, but, especially in areas where founder mutations for LS and consanguinity are common, pediatricians should be aware of it since they are the first to encounter these children. Early diagnosis will enable tailored cancer surveillance in the entire family and a discussion regarding prenatal genetic diagnosis.
Source: Pediatric Blood and Cancer - Category: Cancer & Oncology Authors: Tags: Research Article Source Type: research

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The original version of this article unfortunately contained a mistake. The correct information is given below.
Source: Cancer Immunology, Immunotherapy - Category: Cancer & Oncology Source Type: research
The original version of this article unfortunately contained a mistake. Complete figure captions are missing.
Source: Cancer Immunology, Immunotherapy - Category: Cancer & Oncology Source Type: research
Authors: Robb CM, Kour S, Contreras JI, Agarwal E, Barger CJ, Rana S, Sonawane Y, Neilsen BK, Taylor M, Kizhake S, Thakare RN, Chowdhury S, Wang J, Black JD, Hollingsworth MA, Brattain MG, Natarajan A Abstract [This corrects the article DOI: 10.18632/oncotarget.23749.]. PMID: 32637035 [PubMed - in process]
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
Authors: Sarfstein R, Werner H Abstract A significant volume of clinical and epidemiological data provides support to the concept that insulin and the insulin receptor (INSR) have an important role in breast cancer. Tumor suppressor p53 is the most frequently mutated molecule in human cancer. The present study was aimed at evaluating the hypothesis that p53 governs the expression and activation of the INSR gene in breast cancer cells. In addition, the study was designed to investigate the mechanism of action of p53 in the context of INSR gene regulation. The availability of MCF7 breast cancer-derived cell lines wit...
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
CONCLUSIONS: New-onset AF and the other severe complications were not associated with poorer long-term survival following esophagectomy. In addition, administration of landiolol hydrochloride after esophagectomy did not contribute to prolonging the OS. PMID: 32637032 [PubMed]
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
CONCLUSIONS: Our findings confirmed a high frequency of KIT and NRAS mutations in SUM, as well as a low incidence of BRAF mutations. We reported novel KRAS, CTNNB1, TP53, ERBB2, and SMAD4 mutations in SUM. Our findings provide new insights into the molecular pathogenesis of SUM. PMID: 32637031 [PubMed]
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
Authors: Chae HD, Dutta R, Tiu B, Hoff FW, Accordi B, Serafin V, Youn M, Huang M, Sumarsono N, Davis KL, Lacayo NJ, Pigazzi M, Horton TM, Kornblau SM, Sakamoto KM Abstract The 90 kDa Ribosomal S6 Kinase (RSK) drives cell proliferation and survival in cancers, although its oncogenic mechanism has not been well characterized. Phosphorylated level of RSK (T573) was increased in acute myeloid leukemia (AML) patients and associated with poor survival. To examine the role of RSK in AML, we analyzed apoptosis and the cell cycle profile following treatment with BI-D1870, a potent inhibitor of RSK. BI-D1870 treatment increa...
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
This study aimed to determine the impact of coexisting COPD on long-term mortality in patients with CS-dependent asthma. METHODS: A retrospective cohort of patients with CS-dependent asthma aged 40 years or older was established using records from the Korean National Health Insurance Service database for 2005 to 2015. We classified the subjects into 2 groups according to the presence of COPD and evaluated the hazard ratio (HR) for all-cause mortality in patients with COPD relative to those without COPD. RESULTS: Of 8,021 patients with CS-dependent asthma, 3,121 (38.9%) had COPD. All-cause mortality was significantl...
Source: Allergy, Asthma and Immunology Research - Category: Allergy & Immunology Tags: Allergy Asthma Immunol Res Source Type: research
This study aimed to detect magnetic resonance imaging (MRI) texture parameters to predict the molecular signature of LrGGs using a commercially available software and routine MR images. Forty-three patients treated at Keio University Hospital who had World Health Organization grade II or III gliomas were included. All patients having preoperative T1- and T2-weighted, fluid-attenuated inversion recovery (FLAIR) and diffusion-weighted (DW) images were also included. Texture analyses of T2, FLAIR, and apparent diffusion coefficient (ADC) histograms were performed using a commercially available software. Texture parameters inc...
Source: Neurosurgical Review - Category: Neurosurgery Source Type: research
Authors: Enikeev D, Taratkin M, Morozov A, Shpikina A, Singla N, Rivas JG, Barret E, Glybochko P PMID: 32638576 [PubMed - as supplied by publisher]
Source: Minerva Urologica e Nefrologica - Category: Urology & Nephrology Tags: Minerva Urol Nefrol Source Type: research
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