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| 154. |
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| 155. |
- Syrjakoski, K, et al.
(författare)
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BRCA2 mutations in 154 Finnish male breast cancer patients
- 2004
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Ingår i: Neoplasia. - : Elsevier BV. - 1522-8002 .- 1476-5586. ; 6:5, s. 541-545
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Tidskriftsartikel (refereegranskat)abstract
- The etiology and pathogenesis of male breast cancer (MBC) are poorly known. This is due to the fact that the disease is rare, and large-scale genetic epidemiologic studies have been difficult to carry out. Here, we studied the frequency of eight recurrent Finnish BRCA2 founder mutations in a large cohort of 154 MBC patients (65% diagnosed in Finland from 1967 to 1996). Founder mutations were detected in 10 patients (6.5%), eight of whom carried the 9346(-2) A>G mutation. Two novel mutations (4075 delGT and 5808 del5) were discovered in a screening of the entire BRCA2 coding region in 34 samples. However, these mutations were not found in the rest of the 120 patients studied. Patients with positive family history of breast and/or ovarian cancer were often BRCA2 mutation carriers (44%), whereas those with no family history showed a low frequency of involvement (3.6%; P < .0001). Finally, we found only one Finnish MBC patient with 999 del5, the most common founder mutation in Finnish female breast cancer (FBC) patients, and one that explains most of the hereditary FBC and MBC cases in Iceland. The variation in BRCA2 mutation spectrum between Finnish MBC patients and FBC patients in Finland and breast cancer patients in Iceland suggests that modifying genetic and environmental factors may significantly influence the penetrance of MBC and FBC in individuals carrying germline BRCA2 mutations in some populations.
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| 158. |
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| 159. |
- Van Dorsselaere, J. -P, et al.
(författare)
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Status of the SARNET network on severe accidents
- 2010
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Ingår i: International Congress on Advances in Nuclear Power Plants 2010, ICAPP 2010. - 9781617386435 ; , s. 1029-1043
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Konferensbidrag (refereegranskat)abstract
- After four and a half years of operation in the frame of the 6th Framework Programme (FP6) of the European Commission, SARNET (Severe Accidents Research NETwork of excellence) continues in the FP7 (project named SARNET2) from April 2009 for 4 years. Forty-one organisations from 21 countries network their capacities of research in order to resolve the most important remaining uncertainties and safety issues on severe accidents (SA) in existing and future water-cooled nuclear power plants (NPPs). It includes a large majority of the Europeanactors involved in SA research plus a few non-European important ones. The objective is to perform the common research programmes that have been defined in the network first phase and to continue to improve the common computer tools and methodologies for NPP safety assessment. It will consolidate the sustainable integration of the European SA research capacities. These research programmes concern essentially the six highest priority safety issues that were identified after ranking in the first phase of the network: in-vessel core coolability, molten-corium-concrete-interaction, fuel-coolant interaction, hydrogen mixing and combustion in containment, impact of oxidising conditions on source term, and iodine chemistry. The Joint Programme of Activities includes the following main tasks: Performing new experiments on the above mentioned issues andjointly analysing their results in order to elaborate a common understanding of the concerned physical phenomena; Continuing the development and assessment of the ASTEC integral computer code (jointly developed by IRSN and GRS to predict the NPP behaviour during a postulated SA), which capitalizes in terms of models the knowledge produced in the network. In particular efforts are being extended to its applicability to BWR and CANDU NPP types; Continuing the storage of the SA experimental results in a scientific database, based on the STRESA JRC tool; Promoting educational and training courses, ERMSAR (European Review Meeting on Severe Accident Research) international conferences (to be held once a year) and mobility of young researchers or students between the various European organisations. Some R&D results obtained in the first year of the project are presented, in particular: the VULCANO experiment done in CEA mid-2009 on molten-core-corium-interaction, and the release of the first version of the new ASTEC V2 series.
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