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Sökning: WFRF:(Richardson Mark I.)

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  • Milne, Roger L, et al. (författare)
  • Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
  • 2017
  • Ingår i: Nature Genetics. - 1061-4036 .- 1546-1718. ; 49:12, s. 1767-1778
  • Tidskriftsartikel (refereegranskat)abstract
    • Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10-8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.
  • Couch, Fergus J., et al. (författare)
  • Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
  • 2016
  • Ingår i: Nature Communications. - NATURE PUBLISHING GROUP. - 2041-1723. ; 7:11375, s. 1-13
  • 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.
  • Phelan, Catherine M, et al. (författare)
  • Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.
  • 2017
  • Ingår i: Nature Genetics. - 1061-4036 .- 1546-1718. ; 49:5, s. 680-691
  • Tidskriftsartikel (refereegranskat)abstract
    • To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for different EOC histotypes: six for serous EOC histotypes (3q28, 4q32.3, 8q21.11, 10q24.33, 18q11.2 and 22q12.1), two for mucinous EOC (3q22.3 and 9q31.1) and one for endometrioid EOC (5q12.3). We then performed meta-analysis on the results for high-grade serous ovarian cancer with the results from analysis of 31,448 BRCA1 and BRCA2 mutation carriers, including 3,887 mutation carriers with EOC. This identified three additional susceptibility loci at 2q13, 8q24.1 and 12q24.31. Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a new candidate susceptibility gene for low-grade and borderline serous EOC.
  • Hamdi, Yosr, et al. (författare)
  • Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : : identification of a modifier of breast cancer risk at locus 11q22.3
  • 2017
  • Ingår i: Breast Cancer Research and Treatment. - Springer. - 0167-6806. ; 161:1, s. 117-134
  • Tidskriftsartikel (refereegranskat)abstract
    • Purpose: Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways. Methods: Using data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast and ovarian cancer risks in 15,252 BRCA1 and 8211 BRCA2 mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of BRCA1/2. Results: We identified a region on 11q22.3 that is significantly associated with breast cancer risk in BRCA1 mutation carriers (most significant SNP rs228595 p = 7 × 10−6). This association was absent in BRCA2 carriers (p = 0.57). The 11q22.3 region notably encompasses genes such as ACAT1, NPAT, and ATM. Expression quantitative trait loci associations were observed in both normal breast and tumors across this region, namely for ACAT1, ATM, and other genes. In silico analysis revealed some overlap between top risk-associated SNPs and relevant biological features in mammary cell data, which suggests potential functional significance. Conclusion: We identified 11q22.3 as a new modifier locus in BRCA1 carriers. Replication in larger studies using estrogen receptor (ER)-negative or triple-negative (i.e., ER-, progesterone receptor-, and HER2-negative) cases could therefore be helpful to confirm the association of this locus with breast cancer risk.
  • Hamilton, Victoria E., et al. (författare)
  • Observations and preliminary science results from the first 100 sols of MSL Rover Environmental Monitoring Station ground temperature sensor measurements at Gale Crater
  • 2014
  • Ingår i: Journal of Geophysical Research. - 0148-0227. ; 119:4, s. 745-770
  • Tidskriftsartikel (refereegranskat)abstract
    • We describe preliminary results from the first 100 sols of ground temperature measurements along the Mars Science Laboratory's traverse from Bradbury Landing to Rocknest in Gale. The ground temperature data show long-term increases in mean temperature that are consistent with seasonal evolution. Deviations from expected temperature trends within the diurnal cycle are observed and may be attributed to rover and environmental effects. Fits to measured diurnal temperature amplitudes using a thermal model suggest that the observed surfaces have thermal inertias in the range of 265-375?J m-2 K-1 s-1/2, which are within the range of values determined from orbital measurements and are consistent with the inertias predicted from the observed particle sizes on the uppermost surface near the rover. Ground temperatures at Gale Crater appear to warm earlier and cool later than predicted by the model, suggesting that there are multiple unaccounted for physical conditions or processes in our models. Where the Mars Science Laboratory (MSL) descent engines removed a mobile layer of dust and fine sediments from over rockier material, the diurnal temperature profile is closer to that expected for a homogeneous surface, suggesting that the mobile materials on the uppermost surface may be partially responsible for the mismatch between observed temperatures and those predicted for materials having a single thermal inertia. Models of local stratigraphy also implicate thermophysical heterogeneity at the uppermost surface as a potential contributor to the observed diurnal temperature cycle. Key Points Diurnal ground temperatures vary with location Diurnal temperature curves are not well matched by a homogeneous thermal model GTS data are consistent with a varied stratigraphy and thermophysical properties.
  • Mergè, M., et al. (författare)
  • PAMELA measurements of solar energetic particle spectra
  • 2017
  • Ingår i: Proceedings of Science. - Sissa Medialab Srl.
  • Konferensbidrag (refereegranskat)abstract
    • The charged particle acceleration and transport during solar events have been widely studied in the past decades. The satellite-borne PAMELA experiment has been continuously collecting data since 2006. The apparatus is designed to study charged particles in the cosmic radiation. The combination of permanent magnet, silicon micro-strip spectrometer and silicon-tungsten imaging calorimeter, with the redundancy of instrumentation allows very precise studies on the physics of cosmic rays in a wide energy range and with high statistics. This makes PAMELA a well suited instrument for Solar Energetic Particles (SEP) observations. Not only it spans the energy range between the ground-based neutron monitor data and the observations of SEPs from space, but also PAMELA carries out the first direct measurements of SEP energy spectra, composition and angular distribution. PAMELA has observed many SEP events in solar cycle 24, offering unique opportunity to address several questions on high-energy SEP origin. A preliminary analysis on proton spectra during several events of the 24th solar cycle is presented. 
  • Munini, R., et al. (författare)
  • Evidence of Energy and Charge Sign Dependence of the Recovery Time for the 2006 December Forbush Event Measured by the PAMELA Experiment
  • 2018
  • Ingår i: Astrophysical Journal. - Institute of Physics Publishing (IOPP). - 0004-637X. ; 853:1
  • Tidskriftsartikel (refereegranskat)abstract
    • New results on the short-term galactic cosmic-ray (GCR) intensity variation (Forbish decrease) in 2006 December measured by the PAMELA instrument are presented. Forbush decreases are sudden suppressions of the GCR intensities, which are associated with the passage of interplanetary transients such as shocks and interplanetary coronal mass ejections (ICMEs). Most of the past measurements of this phenomenon were carried out with groundbased detectors such as neutron monitors or muon telescopes. These techniques allow only the indirect detection of the overall GCR intensity over an integrated energy range. For the first time, thanks to the unique features of the PAMELA magnetic spectrometer, the Forbush decrease, commencing on 2006 December 14 and following a CME at the Sun on 2006 December 13, was studied in a wide rigidity range (0.4-20 GV) and for different species of GCRs detected directly in space. The daily averaged GCR proton intensity was used to investigate the rigidity dependence of the amplitude and the recovery time of the Forbush decrease. Additionally, for the first time, the temporal variations in the helium and electron intensities during a Forbush decrease were studied. Interestingly, the temporal evolutions of the helium and proton intensities during the Forbush decrease were found to be in good agreement, while the low rigidity electrons (<2 GV) displayed a faster recovery. This difference in the electron recovery is interpreted as a charge sign dependence introduced by drift motions experienced by the GCRs during their propagation through the heliosphere.
  • Munini, R., et al. (författare)
  • Short-term variation in the galactic cosmic ray intensity measured with the PAMELA experiment
  • 2017
  • Ingår i: Proceedings of Science. - Sissa Medialab Srl.
  • Konferensbidrag (refereegranskat)abstract
    • New results on the galactic cosmic ray (GCR) short-term intensity variation associated with Forbush decrease and co-rotating interaction regions (CIRs) measured by the PAMELA instrument between November 2006 and March 2007 are presented. Most of the past measurements on Forbush decrease events were carried out with neutron monitor detector. This tecnique allows only indirect detection of the overall GCR intensity over an integrated energy range. For the first time, thanks to the unique features of the PAMELA magnetic spectrometer, the Forbush decrease associated with the December 13th coronal mass ejection (CME) was studied in a wide rigidity range (0.4 - 20 GV) and for different species of GCRs detected directly in space. Using GCR protons, the amplitude and the recovery time of the Forbush decrease were studied for ten rigidity interval with a temporal resolution of one day. For comparison the helium and the electron intensity over time were also studied. The temporal evolution of the helium and proton intensity was found in good agreement while the electrons show, on average, a faster recovery time. This was interpreted as a charge-sign dependence introduced by drift motion experienced by the low rigidity (< 5 GV) GCRs during their propagation through the heliosphere. Moreover a clear 13.5 days cyclical variation was observed in the GCR proton intensity after the Forbush decrease. This phenomena could be interpreted as an effect of prominent structures of compressed plasma in the solar wind, i.e. CIRs, or to the latitudinal gradient due to the crossing of the heliospheric current sheet (HCS). 
  • Ferrari, Raffaele, et al. (författare)
  • Frontotemporal dementia and its subtypes: a genome-wide association study.
  • 2014
  • Ingår i: Lancet Neurology. - Lancet Ltd. - 1474-4465. ; 13:7, s. 686-699
  • Tidskriftsartikel (refereegranskat)abstract
    • Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes-MAPT, GRN, and C9orf72-have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder.
  • Moreau, Philippe, et al. (författare)
  • Oral Ixazomib, lenalidomide, and dexamethasone for multiple myeloma
  • 2016
  • Ingår i: New England Journal of Medicine. - Massachusetts Medical Society. - 0028-4793. ; 374:17, s. 1621-1634
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND Ixazomib is an oral proteasome inhibitor that is currently being studied for the treatment of multiple myeloma. METHODS In this double-blind, placebo-controlled, phase 3 trial, we randomly assigned 722 patients who had relapsed, refractory, or relapsed and refractory multiple myeloma to receive ixazomib plus lenalidomide-dexamethasone (ixazomib group) or placebo plus lenalidomide-dexamethasone (placebo group). The primary end point was progression-free survival. RESULTS Progression-free survival was significantly longer in the ixazomib group than in the placebo group at a median follow-up of 14.7 months (median progression-free survival, 20.6 months vs. 14.7 months; hazard ratio for disease progression or death in the ixazomib group, 0.74; P = 0.01); a benefit with respect to progression-free survival was observed with the ixazomib regimen, as compared with the placebo regimen, in all prespecified patient subgroups, including in patients with high-risk cytogenetic abnormalities. The overall rates of response were 78% in the ixazomib group and 72% in the placebo group, and the corresponding rates of complete response plus very good partial response were 48% and 39%. The median time to response was 1.1 months in the ixazomib group and 1.9 months in the placebo group, and the corresponding median duration of response was 20.5 months and 15.0 months. At a median follow-up of approximately 23 months, the median overall survival has not been reached in either study group, and follow-up is ongoing. The rates of serious adverse events were similar in the two study groups (47% in the ixazomib group and 49% in the placebo group), as were the rates of death during the study period (4% and 6%, respectively); adverse events of at least grade 3 severity occurred in 74% and 69% of the patients, respectively. Thrombocytopenia of grade 3 and grade 4 severity occurred more frequently in the ixazomib group (12% and 7% of the patients, respectively) than in the placebo group (5% and 4% of the patients, respectively). Rash occurred more frequently in the ixazomib group than in the placebo group (36% vs. 23% of the patients), as did gastrointestinal adverse events, which were predominantly low grade. The incidence of peripheral neuropathy was 27% in the ixazomib group and 22% in the placebo group (grade 3 events occurred in 2% of the patients in each study group). Patient-reported quality of life was similar in the two study groups. CONCLUSIONS The addition of ixazomib to a regimen of lenalidomide and dexamethasone was associated with significantly longer progression-free survival; the additional toxic effects with this all-oral regimen were limited.
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