| 1. |
- Alakukku, Laura, et al.
(författare)
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Maatalouden ympäristötuen vaikuttavuuden seurantatutkimus (MYTVAS 3) : loppuraportti
- 2014
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Since 1995, agri-environmental support partly funded by the EU has formed the core of Finland’s agri-environmental policy. This system has had a variety of impacts on the relationship between agriculture and the environment. Today’s agri-environmental support is one of the packages included in the Rural Development Programme for Mainland Finland (2007–2013/2014), which both in itself and through the underlying EU legislation requires monitoring of the impacts of the measures implemented. The study monitoring the impact of the 2nd Finnish agri-environmental scheme (MYTVAS 3), which ran from 2008 to 2013, forms part of this monitoring. The MYTVAS 3 monitoring study was also financed by the Ministry of the Environment. The monitoring study was carried out by a consortium coordinated by MTT Agrifood Research Finland and including the Finnish Environment Institute (SYKE), the University of Helsinki, the Finnish Game and Fisheries Research Institute and the University of Turku.The purpose of the MYTVAS 3 monitoring study was to find out how agri-environmental support and its various measures have affected the state of the environment in agricultural areas, how agri-environmental support has affected the potential for farming and how agri-environmental support should be developed to increase its impact. The monitoring focused on the impacts of agri-environmental support on the nutrient load from agriculture on the waterways and on biodiversity. When evaluating the findings presented, we should remember that while monitoring data shows that something happened, it does not necessarily explain what caused it. It is not always possible to show that particular developments were a specific outcome of the current agri-environmental support system and the implementation of its measures. The delay between a measure and its observed impact is often long, and the cause-and-effect relationships are complicated and partly unknown. Also, other agricultural policy and fluctuations on the market may affect the state of the agricultural environment directly or indirectly.The monitoring data show that agri-environmental support has not had a detrimental impact on the potential for farming. Despite a slight increase in the incidence of weeds, they do not cause problems of the kind that would require amendments to the content of agri-environmental measures. Carbon levels in the surface stratum of arable land seems to be continuing their slow decline, and there is still need for measures to preserve organic material in the soil.Compliance with the fertilisation limits in the agri-environmental support system would seem to have had very little impact on crop quality. Variations in the weight and protein content per hectolitre and per 1,000 seeds were of the same order between 2006 and 2012 as they were between 1995 and 2005. Crop quantities have also not been noticeably affected by compliance with the fertilisation limits. Average crop yields remained stable between 1986 and 2013, and no clearly different crop years were observed in the 2000s. It is possible, however, that the lower fertilisation levels could have lowered crop potential in the years with advantageous weather conditions in the 2000s and that protein contents have been lower in advantageous years.The monitoring data also show that the nutrient load potential of agriculture, measured by nutrient balances, has decreased continuously for nitrogen and particularly for phosphorus. The decrease in the nutrient load potential is due above all to a decrease in the use of synthetic fertilisers. The decline in nitrogen fertilisation has bottomed out in recent years, and low protein levels measured in high crop yield years show that there is no point in further reducing nitrogen fertilisation. Optimising nitrogen fertilisation according to how advantageous the growing season is and effectively using the soluble nitrogen in cattle manure are key measures in achieving reasonable nitrogen balances and good crop quality despite fluctuations in growing season conditions. New crop variants have been found to make more efficient use of nitrogen than old ones, and thus the introduction of new variants should be promoted. Despite the decrease in the nutrient balances, there are indications that nutrient loads in runoff water from domestic animal production sites are becoming an increasing problem. Indeed, the fundamental problem with the nutrient load from agriculture is the diversification of livestock farming and crop farming, which has made it more difficult to use nutrients appropriately. Therefore attention must be paid to measures that both boost the use of nutrients in manure and reduce the levels of nutrients that end up in manure. Based on nutrient load monitoring in the catchment areas of rivers, the phosphorus load per hectare of cropland has decreased in each programme period, being about 80% of the level of the first period (1995–1999) in the third period (2007–2013). Because of the increase in the area of cropland, the nitrogen load on waterways from agriculture continued to grow during the second programme period (2000–2006) but peaked in the third (2007–2013). A similar trend was found in the nitrogen load per hectare of cropland.The most important threat to biodiversity is caused by the development of landscape structure, typically involving a decrease in the number of open or half-open areas excluded from actual cultivation. The consequence of the clearing of margins and ecological islands located in crop fields, drainage measures aimed at increasing arable land and all rationalisation of cultivated areas is the diminishing of exactly those areas that are the most important from the perspective of the biodiversity of the agricultural environment. However, the measure-specific findings in the monitoring study show that biodiversity benefits have been locally achieved where measures have been implemented on a broad enough scale (biodynamic farming, traditional biotopes, wetlands, buffer zones, green fallow / nature management areas). Particular care should therefore be taken that all cultivated land continues to have a sufficient percentage of non-cultivated areas, whether they be natural meadows, nature management areas, biodiversity strips, buffer zones, filter strips, headlands, ecological islands, etc. Including the rather popular nature management areas as a new voluntary measure under basic measures was a significant contribution to biodiversity.Regarding the rural landscape, it may be noted that by visual inspection the area of cropland has remained largely unchanged, at the level of the landscape as a whole it is far more common for the landscape to become more closed than to become more open. This trend was also observed in the visual inspection of traditional biotopes, even if the openness of the meadows monitored largely remained unchanged.The only measures that directly address the reduction of gaseous emissions in the agri-environmental support system are the longterm grass cultivation on peat fields and special aid agreements for slurry injection in cropland. While other measures have indirectly affected gaseous emissions, the impact of agri-environmental support as a whole on reducing gaseous emissions from agriculture has been negligible. In general, we may conclude that the goals, content and support levels of agri-environmental support measures must be increasingly adapted and customised by region, by type of farming and by farm, because both the state of the agricultural environment and the needs of society differ greatly between different types of rural area.
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| 2. |
- 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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| 3. |
- Arason, Adalgeir, et al.
(författare)
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Genome-wide search for breast cancer linkage in large Icelandic non-BRCA1/2 families
- 2010
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Ingår i: Breast Cancer Research. - : Springer Science and Business Media LLC. - 1465-5411 .- 1465-542X. ; 12:4, s. R50-
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Tidskriftsartikel (refereegranskat)abstract
- Chromosomes 2p, 6q and 14q are candidate sites for genes contributing together to high breast cancer risk. A polygenic model is supported, suggesting the joint effect of genes in contributing to breast cancer risk to be rather common in non-BRCA1/2 families. For genetic counselling it would seem important to resolve the mode of genetic interaction.
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| 4. |
- Couch, Fergus J., et al.
(författare)
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Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
- 2016
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Ingår i: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 7:11375, s. 1-13
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Tidskriftsartikel (refereegranskat)abstract
- Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.
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| 5. |
- Heikkinen, Katri, et al.
(författare)
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RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability
- 2006
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Ingår i: Carcinogenesis. - : Oxford University Press (OUP). - 0143-3334 .- 1460-2180. ; 27:8, s. 1593-1599
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Tidskriftsartikel (refereegranskat)abstract
- The Mre11 complex, composed of RAD50, NBS1 and MRE11, has an essential role in the maintenance of genomic integrity and preventing cells from malignancy. Here we report the association of three Mre11 complex mutations with hereditary breast cancer susceptibility, studied by using a case-control design with 317 consecutive, newly diagnosed Northern Finnish breast cancer patients and 1000 geographically matched healthy controls (P = 0.0004). RAD50 687delT displayed significantly elevated frequency in the studied patients (8 out of 317, OR 4.3, 95% CI 1.5-12.5, P = 0.008), which indicates that it is a relatively common low-penetrance risk allele in this cohort. Haplotype analysis and the screening of altogether 512 additional breast cancer cases from Sweden, Norway and Iceland suggest that RAD50 687delT is a Finnish founder mutation, not present in the other Nordic cohorts. The RAD50 IVS3-1G > A splicing mutation leading to translational frameshift was observed in one patient, and the NBS1 Leu150Phe missense mutation affecting a conserved residue in the functionally important BRCA1 carboxyterminal (BRCT) domain in two patients, both being absent from 1000 controls. Microsatellite marker analysis showed that loss of the wild-type allele was not involved in the tumorigenesis in any of the studied mutation carriers, but they all showed increased genomic instability assessed by cytogenetic analysis of peripheral blood T-lymphocytes (P = 0.006). In particular, the total number of chromosomal rearrangements was significantly increased (P = 0.002). These findings suggest an effect for RAD50 and NBS1 haploinsufficiency on genomic integrity and susceptibility to cancer.
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| 6. |
- Yang, Xin, et al.
(författare)
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Cancer risks associated with germline PALB2 pathogenic variants : An international study of 524 families
- 2020
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Ingår i: Journal of Clinical Oncology. - 0732-183X. ; 38:7, s. 674-685
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic, male breast, prostate, and colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these risks have not been extensively characterized. METHODS We analyzed data from 524 families with PALB2 PVs from 21 countries. Complex segregation analysis was used to estimate relative risks (RRs; relative to country-specific population incidences) and absolute risks of cancers. The models allowed for residual familial aggregation of breast and ovarian cancer and were adjusted for the family-specific ascertainment schemes. RESULTS We found associations between PALB2 PVs and risk of female breast cancer (RR, 7.18; 95% CI, 5.82 to 8.85; P = 6.5 × 10-76), ovarian cancer (RR, 2.91; 95% CI, 1.40 to 6.04; P = 4.1 × 10-3), pancreatic cancer (RR, 2.37; 95% CI, 1.24 to 4.50; P = 8.7 × 10-3), and male breast cancer (RR, 7.34; 95% CI, 1.28 to 42.18; P = 2.6 3 1022). There was no evidence for increased risks of prostate or colorectal cancer. The breast cancer RRs declined with age (P for trend = 2.0 × 10-3). After adjusting for family ascertainment, breast cancer risk estimates on the basis of multiple case families were similar to the estimates from families ascertained through population-based studies (P for difference = .41). On the basis of the combined data, the estimated risks to age 80 years were 53% (95% CI, 44% to 63%) for female breast cancer, 5% (95% CI, 2% to 10%) for ovarian cancer, 2%-3% (95% CI females, 1% to 4%; 95% CI males, 2% to 5%) for pancreatic cancer, and 1% (95% CI, 0.2% to 5%) for male breast cancer. CONCLUSION These results confirm PALB2 as a major breast cancer susceptibility gene and establish substantial associations between germline PALB2 PVs and ovarian, pancreatic, and male breast cancers. These findings will facilitate incorporation of PALB2 into risk prediction models and optimize the clinical cancer risk management of PALB2 PV carriers.
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