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1.
Biotechniques ; 67(3): 118-122, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31267764

RESUMO

We have previously reported Hi-Plex, a multiplex PCR methodology for building targeted DNA sequencing libraries that offers a low-cost protocol compatible with high-throughput processing. Here, we detail an improved protocol, Hi-Plex2, that more effectively enables the robust construction of small-to-medium panel-size libraries while maintaining low cost, simplicity and accuracy benefits of the Hi-Plex platform. Hi-Plex2 was applied to three panels, comprising 291, 740 and 1193 amplicons, targeting genes associated with risk for breast and/or colon cancer. We show substantial reduction of off-target amplification to enable library construction for small-to-medium-sized design panels not possible using the previous Hi-Plex chemistry.

2.
Mol Genet Genomic Med ; 7(7): e00781, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31162827

RESUMO

BACKGROUND: Muir-Torre syndrome is defined by the development of sebaceous skin lesions in individuals who carry a germline mismatch repair (MMR) gene mutation. Loss of expression of MMR proteins is frequently observed in sebaceous skin lesions, but MMR-deficiency alone is not diagnostic for carrying a germline MMR gene mutation. METHODS: Whole exome sequencing was performed on three MMR-deficient sebaceous lesions from individuals with MSH2 gene mutations (Lynch syndrome) and three MMR-proficient sebaceous lesions from individuals without Lynch syndrome with the aim of characterizing the tumor mutational signatures, somatic mutation burden, and microsatellite instability status. Thirty predefined somatic mutational signatures were calculated for each lesion. RESULTS: Signature 1 was ubiquitous across the six lesions tested. Signatures 6 and 15, associated with defective DNA MMR, were significantly more prevalent in the MMR-deficient lesions from the MSH2 carriers compared with the MMR-proficient non-Lynch sebaceous lesions (mean ± SD=41.0 ± 8.2% vs. 2.3 ± 4.0%, p = 0.0018). Tumor mutation burden was, on average, significantly higher in the MMR-deficient lesions compared with the MMR-proficient lesions (23.3 ± 11.4 vs. 1.8 ± 0.8 mutations/Mb, p = 0.03). All four sebaceous lesions observed in sun exposed areas of the body demonstrated signature 7 related to ultraviolet light exposure. CONCLUSION: Tumor mutational signatures 6 and 15 and somatic mutation burden were effective in differentiating Lynch-related from non-Lynch sebaceous lesions.

3.
J Biomol Struct Dyn ; : 1-13, 2019 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-31074356

RESUMO

In search of achieving less toxic and more potent chemotherapeutics, three novel heterocyclic benzimidazole derivatives: 2-(1H-benzo[d]imidazol-2-yl)-4-chlorophenol (BM1), 4-chloro-2-(6-methyl-1H-benzo[d]imidazol-2-yl)phenol (BM2) and 4-chloro-2-(6-nitro-1H-benzo[d]imidazol-2-yl)phenol (BM3) with DNA-targeting properties, were synthesized and fully characterized by important physicochemical techniques. The DNA binding properties of the compounds were investigated by UV-Visible absorption titrations and thermal denaturation experiments. These molecules exhibited a good binding propensity to fish sperm DNA (FS-DNA), as evident from the high binding constants (Kb) values: 1.9 × 105, 1.39 × 105 and 1.8 × 104 M‒1 for BM1, BM2 and BM3, respectively. Thermal melting studies of DNA further validated the absorption titration results and best interaction was manifested by BM1 with ΔTm = 4.96 °C. The experimental DNA binding results were further validated theoretically by molecular docking study. It was confirmed that the molecules (BM1-BM3) bind to DNA via an intercalative and groove binding mode. The investigations showed a correlation between binding constants and energies obtained experimentally and through molecular docking, indicating a binding preference of benzimidazole derivatives with the minor groove of DNA. BM1 was the preferential candidate for DNA binding because of its flat structure, π-π interactions and less steric hindrance. To complement the DNA interaction, antimicrobial assays (antibacterial & antifungal) were performed. It was observed that compound BM2 showed promising activity against all bacterial strains (Micrococcus luteus, Staphylococcus aureus, Enterobacter aerogenes and Escherichia coli) and fungi (Aspergillus flavus, Aspergillus fumigatus and Fusarium solani), while rest of the compounds were active against selective strains. The MIC values of BM2 were found to be in the range of 12.5 ± 2.2-25 ± 1.5 µg/mL. Thus, the compound BM2 was found to be the effective DNA binding antimicrobial agent. Furthermore, the preliminary cytotoxic properties of synthesized compounds were evaluated by brine shrimps lethality assay to check their nontoxic nature towards healthy normal cells. Communicated by Ramaswamy H. Sarma.

4.
Nutr Neurosci ; : 1-10, 2019 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-31116091

RESUMO

OBJECTIVES: Effects of high-fat diet (HFD) consumption on body weight gain and its consequences on anxiety, learning and memory, and serotonin metabolism (5-hydroxytryptamine; 5-HT) in the hypothalamus and hippocampus are determined in rats. METHODS: Male Wister rats treated with HFD or normal diet (ND) for 12 weeks to monitor food intakes, body weight changes, activity in an open field, anxiety in an elevated plus maze and learning/memory in Morris water maze. Animals decapitated to collect serum for determining leptin by an ELISA kit. The hippocampus and hypothalamus dissected out for determining 5-HT, its metabolite 5-hydroxyindoleacetic acid (5-HIAA) and its precursor tryptophan by HPLC-EC. RESULTS: Despite a significant decrease in the cumulative weekly food intake, gain in body weight was greater in HFD than ND treated rats. Total caloric intakes were not different in the two groups. The consumption of HFD resulted in an enhancement of exploratory activity and reduction in anxiety. It improved learning acquisition and memory retention but impaired reference memory. There was an attenuation of 5-HT in the hypothalamus, and an enhancement of 5-HT and 5-HIAA in the hippocampus, but no effect occurred on tryptophan levels in the hypothalamus or the hippocampus. Serum leptin levels increased in HFD treated animals. CONCLUSION: Serotonin acting via the hypothalamus and hippocampus is involved in HFD-induced weight gain, anxiety reduction and modulation of cognitive performance.

5.
Braz J Microbiol ; 50(2): 449-458, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30671922

RESUMO

This study investigates the combined effect of locally adopted plant growth promoting rhizobacteria (PGPR), biochar, and synthetic fertilizer on the wheat crop for the production and economic returns. A total of 20 PGPR strains were isolated from three different ecological zones of Pakistan and were evaluated. Of them, three isolates were selected for further studies. The treatments included (i) control with a full dose of the recommended fertilizer, (ii) control with half a dose of the fertilizer, (iii) PGPR consortia with half a dose of the fertilizer, (iv) biochar with half a dose of the fertilizer, and (v) PGPR + biochar with half a dose of the fertilizer. The study was repeated at three different locations. The data collected for leaf area index (LAI), grain yield, biological yield, straw yield, and harvest index (HI) revealed significant differences (P ≤ 0.05) for the locations and treatments, but the interaction of location and treatments was not significant. Based on the productivity and economic returns, the treatment with PGPR + biochar with half a dose of the fertilizer proved to be the best. Thus, the use of the PGPR consortia and biochar can improve the yield and profit of wheat crop with reduced synthetic fertilization. Graphical abstract ᅟ.

6.
J Colloid Interface Sci ; 538: 426-432, 2019 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-30530080

RESUMO

A novel polymer-coated ZnO based bilayer electron transporting material is investigated for highly efficiency perovskite solar cells. The bilayer ETM consisting of an upper-layer of ZnO nanosheets and a lower-layer of ZnO nanoparticles demonstrates the averaged power conversion efficiency of 13.11% and a maximum power conversion efficiency of 15.13%, compared to single-layers of nanosheets (power conversion efficiency = 11.73%) and nanoparticles (power conversion efficiency = 11.08%) films. A conformal coating of a polymer such as polyethylenimine on the surface of bilayered film leading to a significant boost in power conversion efficiency upto 16.39%, thanks to the reduced work function, rapid electron transport and better perovskite infiltration into the bilayer electron transporting material.

7.
Bioorg Chem ; 84: 372-383, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30530108

RESUMO

Xanthenone based hydrazone derivatives (5a-n) have been synthesized as potential α-glucosidase inhibitors. All synthesized compounds (5a-n) are characterized by their FTIR, 1H NMR, 13C NMR and HRMS, and in case of 5g also by X-ray crystallographic technique. The compounds unveiled a varying degree of α-glucosidase inhibitory activity when compared with standard acarbose (IC50 = 375.38 ±â€¯0.12 µM). Amongst the series, compound 5l (IC50 = 62.25 ±â€¯0.11 µM) bearing a trifluoromethyl phenyl group is found to be the most active compound. Molecular modelling is performed to establish the binding pattern of the more active compound 5l, which revealed the significance of substitution pattern. The pharmacological properties of molecules are also calculated by MedChem Designer which determines the ADME (absorption, distribution, metabolism, excretion) properties of molecules. The solid state self-assembly of compound 5g is discussed to show the conformation and role of iminoamide moiety in the molecular packing.

8.
Waste Manag Res ; 37(3): 219-236, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30537910

RESUMO

This study compares the suitability of different satellite-based vegetation indices (VIs) for environmental hazard assessment of municipal solid waste (MSW) open dumps. The compared VIs, as bio-indicators of vegetation health, are normalized difference vegetation index (NDVI), soil adjusted vegetation index (SAVI), and modified soil adjusted vegetation index (MSAVI) that have been subject to spatio-temporal analysis. The comparison has been made based on three criteria: one is the exponential moving average (EMA) bias, second is the ease in visually finding the distance of VI curve flattening, and third is the radius of biohazardous zone in relation to the waste heap dumped at them. NDVI has been found to work well when MSW dumps are surrounded by continuous and dense vegetation, otherwise, MSAVI is a better option due to its ability for adjusting soil signals. The hierarchy of the goodness for least EMA bias is MSAVI> SAVI> NDVI with average bias values of 101 m, 203 m, and 270 m, respectively. Estimations using NDVI have been found unable to satisfy the direct relationship between waste heap and hazardous zone size and have given a false exaggeration of 374 m for relatively smaller dump as compared to the bigger one. The same false exaggeration for SAVI and MSAVI is measured to be 86 m and -14 m, respectively. So MSAVI is the only VI that has shown the true relation of waste heap and hazardous zone size. The best visualization of distance-dependent vegetation health away from the dumps is also provided by MSAVI.


Assuntos
Solo , Instalações de Eliminação de Resíduos , Monitoramento Ambiental , Análise Espaço-Temporal
9.
Cureus ; 10(9): e3255, 2018 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-30416905

RESUMO

Adult onset Still's disease (AOSD) is a rare clinical entity with unknown etiology, characterized by arthritis, fever, erythematous rash, and other systemic presentations. We report a case of a 21-year-old male who presented with high spiking fever, dry cough, generalized body ache, arthralgia, and an erythematous rash. He was eventually diagnosed to have AOSD based on the Yamaguchi criteria, after a month of visiting three different healthcare facilities and receiving two misdiagnoses and treatment regimes not specific to his diagnosis. The patient immediately responded to prednisoloneand was healthy upon discharge.

10.
PLoS One ; 13(11): e0206554, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30383853

RESUMO

BACKGROUND AND PURPOSE: Polymorphisms in coagulation genes have been associated with early-onset ischemic stroke. Here we pursue an a priori hypothesis that genetic variation in the endothelial-based receptors of the thrombomodulin-protein C system (THBD and PROCR) may similarly be associated with early-onset ischemic stroke. We explored this hypothesis utilizing a multi-stage design of discovery and replication. METHODS: Discovery was performed in the Genetics-of-Early-Onset Stroke (GEOS) Study, a biracial population-based case-control study of ischemic stroke among men and women aged 15-49 including 829 cases of first ischemic stroke (42.2% African-American) and 850 age-comparable stroke-free controls (38.1% African-American). Twenty-four single-nucleotide-polymorphisms (SNPs) in THBD and 22 SNPs in PROCR were evaluated. Following LD pruning (r2≥0.8), we advanced uncorrelated SNPs forward for association analyses. Associated SNPs were evaluated for replication in an early-onset ischemic stroke population (onset-age<60 years) consisting of 3676 cases and 21118 non-stroke controls from 6 case-control studies. Lastly, we determined if the replicated SNPs also associated with older-onset ischemic stroke in the METASTROKE data-base. RESULTS: Among GEOS Caucasians, PROCR rs9574, which was in strong LD with 8 other SNPs, and one additional independent SNP rs2069951, were significantly associated with ischemic stroke (rs9574, OR = 1.33, p = 0.003; rs2069951, OR = 1.80, p = 0.006) using an additive-model adjusting for age, gender and population-structure. Adjusting for risk factors did not change the associations; however, associations were strengthened among those without risk factors. PROCR rs9574 also associated with early-onset ischemic stroke in the replication sample (OR = 1.08, p = 0.015), but not older-onset stroke. There were no PROCR associations in African-Americans, nor were there any THBD associations in either ethnicity. CONCLUSION: PROCR polymorphisms are associated with early-onset ischemic stroke in Caucasians.

11.
Int J Mol Sci ; 19(10)2018 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-30326623

RESUMO

DNA methylation influences predisposition, development and prognosis for many diseases, including cancer. However, it is not uncommon to encounter samples with incorrect sex labelling or atypical sex chromosome arrangement. Sex is one of the strongest influencers of the genomic distribution of DNA methylation and, therefore, correct assignment of sex and filtering of abnormal samples are essential for the quality control of study data. Differences in sex chromosome copy numbers between sexes and X-chromosome inactivation in females result in distinctive sex-specific patterns in the distribution of DNA methylation levels. In this study, we present a software tool, sEst, which incorporates clustering analysis to infer sex and to detect sex-chromosome abnormalities from DNA methylation microarray data. Testing with two publicly available datasets demonstrated that sEst not only correctly inferred the sex of the test samples, but also identified mislabelled samples and samples with potential sex-chromosome abnormalities, such as Klinefelter syndrome and Turner syndrome, the latter being a feature not offered by existing methods. Considering that sex and the sex-chromosome abnormalities can have large effects on many phenotypes, including diseases, our method can make a significant contribution to DNA methylation studies that are based on microarray platforms.

12.
J Colloid Interface Sci ; 532: 387-394, 2018 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-30096532

RESUMO

Semiconducting metal oxide electron transporting layers (ETLs) with distinct morphologies have the ability to produce the less-hysteric and high efficiency perovskite solar cells (PSCs). Here, for the first time we introduce a viable electrospraying route for one-step deposition of highly mesoporous SnO2 nanosheets, as the ETLs in PSCs with reduces hysteresis, high charge collection efficiency and improved ambient stability. Furthermore, optimization of the interfacial properties between the SnO2 nanosheets and the perovskite absorber layer by the employment of a C60 interlayer consequences in decreasing the charge recombination, better energy level alignment, and significantly improved power conversion efficiency (PCE). Consequently, the efficient PSCs based on C60-modified SnO2 nanosheets ETLs have almost hysteresis-free behavior, with a best PCE of 20.2% thanks to the highly porous nature of nanosheets and better perovskite infiltration. This study reveals that hierarchical SnO2 is a possible ETL for producing low-cost and efficient PSCs with long-term stability.

13.
Braz J Microbiol ; 49 Suppl 1: 15-24, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29728340

RESUMO

This study was aimed to investigate the effect of bio-organic phosphate either alone or in combination with phosphorus solubilizing bacteria strain (Bacillus MWT-14) on the growth and productivity of two wheat cultivars (Galaxy-2013 and Punjab-2011) along with recommended (150-100NPkgha-1) and half dose (75-50NPkgha-1) of fertilizers. The combined application of bio-organic phosphate and the phosphorous solubilizing bacteria strain at either fertilizer level significantly improved the growth, yield parameters and productivity of both wheat cultivars compared to non-inoculated control treatments. The cultivar Punjab-2011 produced the higher chlorophyll contents, crop growth rate, and the straw yield at half dose of NP fertilizer; while Galaxy-2013, with the combined application of bio-organic phosphate and phosphorous solubilizing bacteria under recommended NP fertilizer dose. Combined over both NP fertilizer levels, the combined use of bio-organic phosphate and phosphorous solubilizing bacteria enhanced the grain yield of cultivar Galaxy-2013 by 54.3% and that of cultivar Punjab-2011 by 83.3%. The combined application of bio-organic phosphate and phosphorous solubilizing bacteria also increased the population of phosphorous solubilizing bacteria, the soil organic matter and phosphorous contents in the soil. In conclusion, the combined application of bio-organic phosphate and phosphorous solubilizing bacteria offers an eco-friendly option to harvest the better wheat yield with low fertilizer input under arid climate.

14.
Prz Gastroenterol ; 13(1): 52-60, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29657612

RESUMO

Introduction: The hepatocellular carcinoma (HCC), being the commonest primary cancer, holds the sixth slot in the list of common cancers worldwide. Thrombotic complications in the form of portal vein tumour thrombosis (PVTT) and bland portal vein thrombosis with HCC are common with a bad prognosis. Aim: The study aims to determine the demographic, clinical, and biochemical parameters of HCC patients. The study also compares the clinical and biochemical parameters among patients having HCC with and without thrombotic complication. It further aims to assess the risk factors for thrombotic complication. Material and methods: This was a retrospective study with a cross sectional design. Clinical and biochemical parameters among patients having HCC with and without thrombotic complication were determined. Tests of statistical significance were applied where a p-value < 0.05 was statistically significant. Results: Overall 118/305 (38.7%) patients of HCC had thrombotic complications. Most of the patients (74.5%) had PVTT whereas in 25.5% bland PVT was found. Higher age, male gender, greater tumour size, advanced stage of HCC (Okuda II, III), multifocal/massive tumour morphology and presence of oesophageal varices, upper GI bleeding, ascites and hepatic encephalopathy, and extrahepatic spread were found to be statistically significant for thrombotic complication (p < 0.05 for each). Conclusions: Viral related HCC is a commonly reported problem. Thrombotic complication is mainly due to tumour thrombosis rather than bland portal vein thrombosis. Age, gender, greater tumour size, advanced stage of HCC (Okuda II, III), and multifocal/massive tumour morphology were important risk factors for thrombotic complication.

15.
J Coll Physicians Surg Pak ; 28(3): 252-253, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29544591
16.
J Colloid Interface Sci ; 522: 144-150, 2018 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-29597126

RESUMO

Anisotropic Janus particles are of great interest for many applications. It is well known that behavior and utility of Janus particles are highly dependent on their chemistry and geometry. Herein, we report the synthesis of monodisperse polymeric Janus microparticles that were anisotropic not only in chemistry and shape but also in surface morphology and porosity, via a modified seeded polymerization technique. Chemical composition, shape, morphology and porosity of the polymeric Janus microparticles were flexibly controlled by utilizing different quantities and species of monomer and porogen. The polymeric Janus microparticles exhibited hierarchically porous structure, including micro- and meso-pores as evidenced by isothermal nitrogen adsorption and desorption. Due to the high specific surface area, anisotropy of the polymeric Janus microparticles was enhanced according to the greater fluorescence contrast on distinct sides of the polymeric Janus microparticles. Moreover, swelling and phase-separation processes of cross-linked seeds were in situ observed on an optical microscope to demonstrate the formation mechanism of the polymeric Janus microparticles.

17.
Genet Med ; 20(10): 1299, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-29388942

RESUMO

The abstract to this article contained errors in the Results and Conclusions section. The corrected sections are shown below.

18.
BMC Cancer ; 18(1): 165, 2018 02 08.
Artigo em Inglês | MEDLINE | ID: mdl-29422015

RESUMO

BACKGROUND: Breast cancer risk for BRCA1 and BRCA2 pathogenic mutation carriers is modified by risk factors that cluster in families, including genetic modifiers of risk. We considered genetic modifiers of risk for carriers of high-risk mutations in other breast cancer susceptibility genes. METHODS: In a family known to carry the high-risk mutation PALB2:c.3113G>A (p.Trp1038*), whole-exome sequencing was performed on germline DNA from four affected women, three of whom were mutation carriers. RESULTS: RNASEL:p.Glu265* was identified in one of the PALB2 carriers who had two primary invasive breast cancer diagnoses before 50 years. Gene-panel testing of BRCA1, BRCA2, PALB2 and RNASEL in the Australian Breast Cancer Family Registry identified five carriers of RNASEL:p.Glu265* in 591 early onset breast cancer cases. Three of the five women (60%) carrying RNASEL:p.Glu265* also carried a pathogenic mutation in a breast cancer susceptibility gene compared with 30 carriers of pathogenic mutations in the 586 non-carriers of RNASEL:p.Glu265* (5%) (p < 0.002). Taqman genotyping demonstrated that the allele frequency of RNASEL:p.Glu265* was similar in affected and unaffected Australian women, consistent with other populations. CONCLUSION: Our study suggests that RNASEL:p.Glu265* may be a genetic modifier of risk for early-onset breast cancer predisposition in carriers of high-risk mutations. Much larger case-case and case-control studies are warranted to test the association observed in this report.


Assuntos
Neoplasias da Mama/genética , Endorribonucleases/genética , Predisposição Genética para Doença/genética , Adulto , Idade de Início , Austrália , Proteína BRCA1/genética , Proteína BRCA2/genética , Feminino , Heterozigoto , Humanos , Pessoa de Meia-Idade , Mutação , Linhagem , Adulto Jovem
19.
Sci Rep ; 8(1): 1039, 2018 01 18.
Artigo em Inglês | MEDLINE | ID: mdl-29348418

RESUMO

The molecular structure of macromolecules in living cells is ambiguous unless we classify them in a scientific manner. Signal peptides are of vital importance in determining the behavior of newly formed proteins towards their destined path in cellular and extracellular location in both eukaryotes and prokaryotes. In the present research work, a novel method is offered to foreknow the behavior of signal peptides and determine their cleavage site. The proposed model employs neural networks using isolated sets of prokaryote and eukaryote primary sequences. Protein sequences are classified as secretory or non-secretory in order to investigate secretory proteins and their signal peptides. In comparison with the previous prediction tools, the proposed algorithm is more rigorous, well-organized, significantly appropriate and highly accurate for the examination of signal peptides even in extensive collection of protein sequences.


Assuntos
Modelos Biológicos , Modelos Moleculares , Sinais Direcionadores de Proteínas , Algoritmos , Relação Estrutura-Atividade
20.
Genet Med ; 20(8): 890-895, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29120461

RESUMO

BACKGROUND: Germ-line mutations in the exonuclease domains of the POLE and POLD1 genes are associated with an increased, but yet unquantified, risk of colorectal cancer (CRC). METHODS: We identified families with POLE or POLD1 variants by searching PubMed for relevant studies prior to October 2016 and by genotyping 669 population-based CRC cases diagnosed in patients under 60 years of age, from the Australasian Colorectal Cancer Family Registry. We estimated the age-specific cumulative risks (penetrance) using a modified segregation analysis. RESULTS: We observed 67 CRCs (mean age at diagnosis = 50.2 (SD = 13.8) years) among 364 first- and second-degree relatives from 41 POLE families, and 6 CRCs (mean age at diagnosis = 39.7 (SD = 6.83) years) among 69 relatives from 9 POLD1 families. We estimated risks of CRC up to the age of 70 years (95% confidence interval) for males and females, respectively, to be 28% (95% CI, 10­42%) and 21% (95% CI, 7­33%) for POLE mutation carriers and 90% (95% CI, 33­99%) and 82% (95% CI, 26­99%) for POLD1 mutation carriers. CONCLUSION: CRC risks for POLE mutation carriers are sufficiently high to warrant consideration of colonoscopy screening and implementation of management guidelines recommended for MSH6 mutation carriers in cases of Lynch syndrome. Refinement of estimates of CRC risk for POLD1 carriers is needed; however, clinical management recommendations could follow those made for POLE carriers.

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