| 61. |
- Antoniou, Antonis C., et al.
(författare)
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A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 42:10, s. 885-892
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Tidskriftsartikel (refereegranskat)abstract
- Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 mutations who were diagnosed with invasive breast cancer under age 40 and 1,190 BRCA1 carriers without breast cancer diagnosis over age 35. We took forward 96 SNPs for replication in another 5,986 BRCA1 carriers (2,974 individuals with breast cancer and 3,012 unaffected individuals). Five SNPs on 19p13 were associated with breast cancer risk (P-trend = 2.3 x 10(-9) to Ptrend = 3.9 x 10(-7)), two of which showed independent associations (rs8170, hazard ratio (HR) = 1.26, 95% CI 1.17-1.35; rs2363956 HR = 0.84, 95% CI 0.80-0.89). Genotyping these SNPs in 6,800 population-based breast cancer cases and 6,613 controls identified a similar association with estrogen receptor-negative breast cancer (rs2363956 per-allele odds ratio (OR) = 0.83, 95% CI 0.75-0.92, P-trend = 0.0003) and an association with estrogen receptor-positive disease in the opposite direction (OR = 1.07, 95% CI 1.01-1.14, P-trend = 0.016). The five SNPs were also associated with triple-negative breast cancer in a separate study of 2,301 triple-negative cases and 3,949 controls (Ptrend = 1 x 10(-7) to Ptrend = 8 x 10(-5); rs2363956 per-allele OR = 0.80, 95% CI 0.74-0.87, P-trend = 1.1 x 10(-7)).
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| 62. |
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| 63. |
- Peterlongo, Paolo, et al.
(författare)
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FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
- 2015
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 24:18, s. 5345-5355
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Tidskriftsartikel (refereegranskat)abstract
- Numerous genetic factors that influence breast cancer risk are known. However, approximately two-thirds of the overall familial risk remain unexplained. To determine whether some of the missing heritability is due to rare variants conferring high to moderate risk, we tested for an association between the c.5791C>T nonsense mutation (p.Arg1931*; rs144567652) in exon 22 of FANCM gene and breast cancer. An analysis of genotyping data from 8635 familial breast cancer cases and 6625 controls from different countries yielded an association between the c.5791C>T mutation and breast cancer risk [odds ratio (OR) = 3.93 (95% confidence interval (CI) = 1.28-12.11; P = 0.017)]. Moreover, we performed two meta-analyses of studies from countries with carriers in both cases and controls and of all available data. These analyses showed breast cancer associations with OR = 3.67 (95% CI = 1.04-12.87; P = 0.043) and OR = 3.33 (95% CI = 1.09-13.62; P = 0.032), respectively. Based on information theory-based prediction, we established that the mutation caused an out-of-frame deletion of exon 22, due to the creation of a binding site for the pre-mRNA processing protein hnRNP A1. Furthermore, genetic complementation analyses showed that the mutation influenced the DNA repair activity of the FANCM protein. In summary, we provide evidence for the first time showing that the common p.Arg1931* loss-of-function variant in FANCM is a risk factor for familial breast cancer.
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| 64. |
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| 65. |
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| 66. |
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| 67. |
- Awasthi, Mukesh Kumar, et al.
(författare)
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Advanced approaches for resource recovery from wastewater and activated sludge: A review
- 2023
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Ingår i: Bioresource Technology. - 0960-8524 .- 1873-2976. ; 384
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Forskningsöversikt (refereegranskat)abstract
- Due to resource scarcity, current industrial systems are switching from waste treatment, such as wastewater treatment and biomass, to resource recovery (RR). Biofuels, manure, pesticides, organic acids, and other bioproducts with a great market value can be produced from wastewater and activated sludge (AS). This will not only help in the transition from a linear economy to a circular economy, but also contribute to sustainable development. However, the cost of recovering resources from wastewater and AS to produce value-added products is quite high as compared to conventional treatment methods. In addition, most antioxidant technologies remain at the laboratory scale that have not yet reached the level at industrial scale. In order to promote the innovation of resource recovery technology, the various methods of treating wastewater and AS to produce biofuels, nutrients and energy are reviewed, including biochemistry, thermochemistry and chemical stabilization. The limitations of wastewater and AS treatment methods are prospected from biochemical characteristics, economic and environmental factors. The biofuels derived from third generation feedstocks, such as wastewater are more sustainable. Microalgal biomass are being used to produce biodiesel, bioethanol, biohydrogen, biogas, biooils, bioplastics, biofertilizers, biochar and biopesticides. New technologies and policies can promote a circular economy based on biological materials.
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| 68. |
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| 69. |
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| 70. |
- Li, Yue, et al.
(författare)
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Sustainable Conversion of Biowaste to Energy to Tackle the Emerging Pollutants: A Review
- 2023
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Ingår i: Current Pollution Reports. - : Springer. - 2198-6592.
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Forskningsöversikt (refereegranskat)abstract
- Biowaste is a major source of organic material that can be converted into energy through various processes such as anaerobic digestion, composting, and pyrolysis. However, emerging pollutants, such as pharmaceuticals, pesticides, herbicides, and personal and household products, are a growing concern in wastewater treatment that can be effectively removed by biowaste-to-energy processes. While these contaminants pose significant challenges, the development and implementation of effective monitoring programs and risk assessment tools help to mitigate their impact on human health and the environment. Likewise, monitoring programs, challenges, legislations, and risk assessment tools are essential for understanding and managing the risks associated with emerging pollutants. Biowaste recycling is an important aspect of a biocircular economy perspective as it involves the conversion of organic waste into valuable resources that can be reused sustainably. The review discusses the modern approaches that offer several advantages, including reducing the waste disposal and generating renewable energy while addressing emerging wastewater treatment pollutants. To achieve the goal of a circular economy, modern biotechnological approaches including anaerobic digestion, composting, bioleaching, bioremediation, and microbial fuel cells offer a sustainable and effective way to convert waste into valuable products. These bioproducts alongside energy generation using waste-to-energy technologies can provide economic benefits through revenue generation, reduced waste disposal costs, and improved resource efficiency. To achieve a biocircular economy for biowaste valorization, several stakeholders, including waste collectors, waste management companies, policymakers, and consumers need to be involved. The sustainable conversion of biowaste to energy is an essential and instrumental technology in environmental sustainability.
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