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OBJECTIVE: The Phenotype Risk Score (PheRS) is a method to detect Mendelian disease patterns usin...

期刊:J Am Med Inform Assoc  影响因子:0.0  发表日期: 20191014  PMID: 31609419 


Recent advances in the determination of crystal structures and studies of optical properties of g...

期刊:Nanomaterials (Basel)  影响因子:0.0  发表日期: 20190628  PMID: 31261666 


BACKGROUND & AIMS: Genome-wide association studies (GWASs) have associated approximately 50 loci ...

关键词: colon cancer    epidemiology    genetic variants    immunology   
期刊:Gastroenterology  影响因子:19.233  发表日期: 20190401  PMID: 30529582 


The transition from the discrete, excitonic state to the continuous, metallic state in thiolate-p...

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期刊:Chem Sci  影响因子:9.556  发表日期: 20191114  PMID: 32015802 


The evolution of the optical properties of gold nanoclusters (NCs) versus size is of great import...

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期刊:J Am Chem Soc  影响因子:14.695  发表日期: 20191206  PMID: 31809035 


BACKGROUND: Pathogenic variants in susceptibility genes lead to increased breast cancer risk. MET...

背景:易感基因的致病性变异导致罹患乳腺癌的风险增加。 方法:为了鉴定与乳腺癌风险相关的编码变异体,我们对831例乳腺癌病例和839例中国女性对照的基因组DNA样本进行了全外显子组测序。我们还使用...

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期刊:Cancer Epidemiol Biomarkers Prev  影响因子:0.0  发表日期: 20190603  PMID: 31160347 


The missing heritability of breast cancer could be partially attributed to rare variants (MAF < 0.5%). To identify breast cancer-associated rare coding variants, we conducted whole-exome sequencing (~50X) in genomic DNA samples obtained from 831 breast cancer cases and 839 controls of Chinese females. Using burden tests for each gene that included rare missense or predicted deleterious variants, we identified 29 genes showing promising associations with breast cancer risk. We replicated the association for two genes, OGDHL and BRCA2, at a Bonferroni-corrected P < 0.05, by genotyping an independent set of samples from 1,628 breast cancer cases and 1,943 controls. The association for OGDHL was primarily driven by three predicted deleterious variants (p.Val827Met, p.Pro839Leu, p.Phe836Ser; P < 0.01 for all). For BRCA2, we characterized a total of 27 disruptive variants, including 18 nonsense, six frameshift and three splicing variants, whereas they were only detected in cases, but none of the controls. All of these variants were either very rare (AF < 0.1%) or not detected in >4,5...

乳腺癌遗传力的缺失可能部分归因于罕见的变异(MAF <0.5%)。为了鉴定与乳腺癌相关的罕见编码变体,我们对从831例乳腺癌病例和839例中国女性对照中获得的基因组DNA样品进行了全外显子组测序(〜50X)。使用包含罕见错义或预测有害变异的每个基因的负荷测试,我们鉴定了29个基因,这些基因显示出与乳腺癌风险相关的有希望的关联。通过对来自1,628例乳腺癌病例和1,943例对照的一组独立样本进行基因分型,我们以Bonferroni校正的P <0.05复制了两个基因OGDHL和BRCA2的关联。 OGDHL的关联主要由三个预测的有害变体驱动(p.Val827Met,p.Pro839Leu,p.Phe836Ser;所有P 4,500名东亚女性中未检测到,为我们的发现提供了进一步的支持。我们的研究揭示了BRCA2潜在的新颖基因和多种破坏性变体,可提高罹患乳腺癌的...

关键词: BRCA2    MEGA    OGDHL    breast cancer    rare coding variants    whole-exome sequencing   
期刊:Int J Cancer  影响因子:4.982  发表日期: 20191213  PMID: 31837001 


PURPOSE: Limited studies have been conducted to evaluate pathogenetic mutations in breast cancer ...

目的:已经进行了有限的研究来评估中国女性乳腺癌易感基因的致病突变。为了全面表征这些人群中这些基因的种系突变,我们在中国上海进行的基于人群的病例对照研究中使用了全外显子组测序数据。 方法:我们在8...

期刊:Breast Cancer Res Treat  影响因子:3.471  发表日期: 20200601  PMID: 32318955 


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