| 1. |
- Chen, F, et al.
(författare)
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Interval cancers in nasopharyngeal carcinoma screening: comparing two screening intervals after a negative initial screening result
- 2012
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Ingår i: Journal of medical screening. - : SAGE Publications. - 1475-5793 .- 0969-1413. ; 19:4, s. 195-200
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Tidskriftsartikel (refereegranskat)abstract
- To examine the optimal screening interval among the individuals who received a negative Epstein-Barr virus immunoglobulin A antibodies against viral capsid antigen (VCA-IgA) serum test result and who comprised the majority of the population screened for nasopharyngeal carcinoma (NPC). Methods Screening was performed in Sihui, Guangdong, China, offering a repeated screening for participants with an initial negative test either after 4-5 years in one centre (short interval centre), or 9-10 years in another (long interval centre). The characteristics and incidence rates (IRs) of interval NPCs (defined as cases diagnosed outside the screening protocol while within the screening interval) were compared between these two centres. Standard incidence ratios (SIRs) were also calculated using the general Sihui population as the reference. Results Seven interval NPCs were detected in the short interval centre (IR: 17.8/10 5 person-years) and 20 in the long interval centre (IR: 20.8/10 5 person-years during the first four years and 43.5/10 5 person-years during the remaining years). The SIR in the short interval centre was 0.43 (95% confidence interval [CI]: 0.17-0.89); SIR in the long interval centre was 0.47 (95% CI: 0.17-1.02) during the first four years and 0.90 (95% CI: 0.49-1.51) during the remaining years. No aggressive interval NPC was observed in the short interval centre; four were identified in the long interval centre. Conclusions The incidence of NPC, especially aggressive NPC, was low during the first few years after a negative screening; the incidence increased to the general population level afterwards. A screening interval of 4-5 years may therefore be more suitable than 9–10 years after a negative VCA-IgA test in NPC screening.
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| 2. |
- Hu, Maowei, et al.
(författare)
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Efficient and Stable Dye-Sensitized Solar Cells Based on a Tetradentate Copper(II/I) Redox Mediator
- 2018
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Ingår i: ACS Applied Materials and Interfaces. - : American Chemical Society (ACS). - 1944-8244 .- 1944-8252. ; 10:36, s. 30409-30416
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Tidskriftsartikel (refereegranskat)abstract
- The identification of an efficient and stable redox mediator is of paramount importance for commercialization of dye-sensitized solar cells (DSCs). Herein, we report a new class of copper complexes containing diamine-dipyridine tetradentate ligands (L1 = N,N'-dibenzyl-N,N'-bis-(pyridin-2-ylmethyl)ethylenediamine; L2 = N,N'-dibenzyl-N,N'-bis (6-methyl-pyridin-2-ylmethyl)ethylenediamine) as redox mediators in DSCs. Devices constructed with [Cu(L2)](2+/+) redox couple afford an impressive power conversion efficiency (PCE) of 9.2% measured under simulated one sun irradiation (100 mW cm(-2), AM 1.5G), which is among the top efficiencies reported thus far for DSCs with copper complex-based redox mediators. Remarkably, the excellent air, photo, and electrochemical stability of the [Cu(L2)](2+/+) complexes renders an outstanding long-term stability of the whole DSC device, maintaining similar to 90% of the initial efficiency over 500 h under continuous full sun irradiation. This work unfolds a new platform for developing highly efficient and stable redox mediators for large-scale application of DSCs.
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| 3. |
- Jacobs, Kevin B, et al.
(författare)
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Detectable clonal mosaicism and its relationship to aging and cancer.
- 2012
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Ingår i: Nature Genetics. - New York : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 44:6, s. 651-658
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Tidskriftsartikel (refereegranskat)abstract
- In an analysis of 31,717 cancer cases and 26,136 cancer-free controls from 13 genome-wide association studies, we observed large chromosomal abnormalities in a subset of clones in DNA obtained from blood or buccal samples. We observed mosaic abnormalities, either aneuploidy or copy-neutral loss of heterozygosity, of >2 Mb in size in autosomes of 517 individuals (0.89%), with abnormal cell proportions of between 7% and 95%. In cancer-free individuals, frequency increased with age, from 0.23% under 50 years to 1.91% between 75 and 79 years (P = 4.8 × 10(-8)). Mosaic abnormalities were more frequent in individuals with solid tumors (0.97% versus 0.74% in cancer-free individuals; odds ratio (OR) = 1.25; P = 0.016), with stronger association with cases who had DNA collected before diagnosis or treatment (OR = 1.45; P = 0.0005). Detectable mosaicism was also more common in individuals for whom DNA was collected at least 1 year before diagnosis with leukemia compared to cancer-free individuals (OR = 35.4; P = 3.8 × 10(-11)). These findings underscore the time-dependent nature of somatic events in the etiology of cancer and potentially other late-onset diseases.
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| 4. |
- Machiela, Mitchell J., et al.
(författare)
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Characterization of Large Structural Genetic Mosaicism in Human Autosomes
- 2015
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 96:3, s. 487-497
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Tidskriftsartikel (refereegranskat)abstract
- Analyses of genome-wide association study (GWAS) data have revealed that detectable genetic mosaicism involving large (>2 Mb) structural autosomal alterations occurs in a fraction of individuals. We present results for a set of 24,849 genotyped individuals (total GWAS set II [TGSII]) in whom 341 large autosomal abnormalities were observed in 168 (0.68%) individuals. Merging data from the new TGSII set with data from two prior reports (the Gene-Environment Association Studies and the total GWAS set I) generated a large dataset of 127,179 individuals; we then conducted a meta-analysis to investigate the patterns of detectable autosomal mosaicism (n = 1,315 events in 925 [0.73%] individuals). Restricting to events >2 Mb in size, we observed an increase in event frequency as event size decreased. The combined results underscore that the rate of detectable mosaicism increases with age (p value = 5.5 x 3 10(-31)) and is higher in men (p value = 0.002) but lower in participants of African ancestry (p value = 0.003). In a subset of 47 individuals from whom serial samples were collected up to 6 years apart, complex changes were noted over time and showed an overall increase in the proportion of mosaic cells as age increased. Our large combined sample allowed for a unique ability to characterize detectable genetic mosaicism involving large structural events and strengthens the emerging evidence of non-random erosion of the genome in the aging population.
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| 5. |
- Machiela, Mitchell J, et al.
(författare)
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Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome
- 2016
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Ingår i: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected 124 mosaic X events >2 Mb in 97 (0.25%) women. Here we show rates for X-chromosome mosaicism are four times higher than mean autosomal rates; X mosaic events more often include the entire chromosome and participants with X events more likely harbour autosomal mosaic events. X mosaicism frequency increases with age (0.11% in 50-year olds; 0.45% in 75-year olds), as reported for Y and autosomes. Methylation array analyses of 33 women with X mosaicism indicate events preferentially involve the inactive X chromosome. Our results provide further evidence that the sex chromosomes undergo mosaic events more frequently than autosomes, which could have implications for understanding the underlying mechanisms of mosaic events and their possible contribution to risk for chronic diseases.
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| 6. |
- Wang, Zhaoming, et al.
(författare)
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Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33
- 2014
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 23:24, s. 6616-6633
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have mapped risk alleles for at least 10 distinct cancers to a small region of 63 000 bp on chromosome 5p15.33. This region harbors the TERT and CLPTM1L genes; the former encodes the catalytic subunit of telomerase reverse transcriptase and the latter may play a role in apoptosis. To investigate further the genetic architecture of common susceptibility alleles in this region, we conducted an agnostic subset-based meta-analysis (association analysis based on subsets) across six distinct cancers in 34 248 cases and 45 036 controls. Based on sequential conditional analysis, we identified as many as six independent risk loci marked by common single-nucleotide polymorphisms: five in the TERT gene (Region 1: rs7726159, P = 2.10 × 10(-39); Region 3: rs2853677, P = 3.30 × 10(-36) and PConditional = 2.36 × 10(-8); Region 4: rs2736098, P = 3.87 × 10(-12) and PConditional = 5.19 × 10(-6), Region 5: rs13172201, P = 0.041 and PConditional = 2.04 × 10(-6); and Region 6: rs10069690, P = 7.49 × 10(-15) and PConditional = 5.35 × 10(-7)) and one in the neighboring CLPTM1L gene (Region 2: rs451360; P = 1.90 × 10(-18) and PConditional = 7.06 × 10(-16)). Between three and five cancers mapped to each independent locus with both risk-enhancing and protective effects. Allele-specific effects on DNA methylation were seen for a subset of risk loci, indicating that methylation and subsequent effects on gene expression may contribute to the biology of risk variants on 5p15.33. Our results provide strong support for extensive pleiotropy across this region of 5p15.33, to an extent not previously observed in other cancer susceptibility loci.
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