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- Antoniou, Antonis C., et al.
(författare)
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Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
- 2011
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 20:16, s. 3304-3321
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Tidskriftsartikel (refereegranskat)abstract
- Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs11249433 at 1p11.2 and rs999737 in RAD51L1 at 14q24.1. Although previously identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently unknown. To address this, we genotyped these SNPs in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2. In the analysis of 14 123 BRCA1 and 8053 BRCA2 mutation carriers of European ancestry, the 6q25.1 SNPs (r(2) = 0.14) were independently associated with the risk of breast cancer for BRCA1 mutation carriers [ hazard ratio (HR) = 1.17, 95% confidence interval (CI): 1.11-1.23, P-trend = 4.5 x 10(-9) for rs2046210; HR = 1.28, 95% CI: 1.18-1.40, P-trend = 1.3 x 10(-8) for rs9397435], but only rs9397435 was associated with the risk for BRCA2 carriers (HR = 1.14, 95% CI: 1.01-1.28, P-trend = 0.031). SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02-1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92-1.02, P-trend = 0.20). SNP rs999737 (RAD51L1) was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers (P-trend = 0.27 and 0.30, respectively). The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women.
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| 3. |
- Schwan, D., et al.
(författare)
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Invited Article: Millimeter-wave bolometer array receiver for the Atacama pathfinder experiment Sunyaev-Zel'dovich (APEX-SZ) instrument
- 2011
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Ingår i: Review of Scientific Instruments. - : AIP Publishing. - 1089-7623 .- 0034-6748. ; 82:9
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Tidskriftsartikel (refereegranskat)abstract
- The Atacama pathfinder experiment Sunyaev-Zel'dovich (APEX-SZ) instrument is a millimeter-wave cryogenic receiver designed to observe galaxy clusters via the Sunyaev-Zel'dovich effect from the 12 m APEX telescope on the Atacama plateau in Chile. The receiver contains a focal plane of 280 superconducting transition-edge sensor (TES) bolometers instrumented with a frequency-domain multiplexed readout system. The bolometers are cooled to 280 mK via a three-stage helium sorption refrigerator and a mechanical pulse-tube cooler. Three warm mirrors, two 4 K lenses, and a horn array couple the TES bolometers to the telescope. APEX-SZ observes in a single frequency band at 150 GHz with 1' angular resolution and a 22' field-of-view, all well suited for cluster mapping. The APEX-SZ receiver has played a key role in the introduction of several new technologies including TES bolometers, the frequency-domain multiplexed readout, and the use of a pulse-tube cooler with bolometers. As a result of these new technologies, the instrument has a higher instantaneous sensitivity and covers a larger field-of-view than earlier generations of Sunyaev-Zel'dovich instruments. The TES bolometers have a median sensitivity of 890 mu K(CMB)root s (NEy of 3.5 x 10(-4) root s). We have also demonstrated upgraded detectors with improved sensitivity of 530 mu K(CMB) root s (NEy of 2.2 x 10(-4) root s). Since its commissioning in April 2007, APEX-SZ has been used to map 48 clusters. We describe the design of the receiver and its performance when installed on the APEX telescope.
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| 4. |
- Kane, Bridget, et al.
(författare)
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Multidisciplinary Team (MDT) experience in the incorporation of PACS and real-time electronic record-keeping at meetings
- 2011
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Ingår i: Health Informatics Society of Ireland (HISI). - : ICS HISI.
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Konferensbidrag (refereegranskat)abstract
- In tandem with the introduction of PACS and the adoption of an EPR system at St. James’s hospital, there has been a 237% increase in the number of patients being managed through Breast MDT meetings between 2005 and 2010.Methodology: This study forms part of a long-term ethnographic study at St. James's Hospital. Data are gathered at MDT meetings.Due to increased numbers of women attending breast triple assessment clinics, and awareness of breast complaints, coupled with new protocols and amended local hospital policies, new strategies were required to be implemented to cope effectively with the increased demand. Strategies include grouping and prioritizing of cases, increased formalisation, and the incorporation of real-time electronic record-keeping at meetings (as opposed to note-taking).The Electronic Patient Record (EPR) system allows access to all laboratory test results and the final written pathology report if required during discussion. PACS implementation facilitates direct access to digital radiological imaging such as Mammograms, Breast Ultrasound, Breast MRI, Body CT and Bone Scans. The increase in the number of patient presenting to the breast care services has resulted in more selective use of illustrating images. It is no longer practical to conduct a routine review of all images as may have happened in the past.In 2010 a ‘computer-on-wheels’, connected to the hospital wired-network, was introduced to enable real-time data entry of the decisions of the MDT. The lead clinician, at the end of the meeting, validates entries and the report from the MDT discussion is then available in the individual patient record.
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