| 1. |
- Osorio, A., et al.
(författare)
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Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2 (CIMBA)
- 2009
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Ingår i: British Journal of Cancer. - : Nature Publishing Group. - 0007-0920 .- 1532-1827. ; 101:12, s. 2048-2054
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Tidskriftsartikel (refereegranskat)abstract
- Background: In this study we aimed to evaluate the role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers. Methods: We have genotyped rs744154 in 9408 BRCA1 and 5632 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and assessed its association with breast cancer risk using a retrospective weighted cohort approach. Results: We found no evidence of association with breast cancer risk for BRCA1 (per-allele HR: 0.98, 95% CI: 0.93-1.04, P0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P0.5) mutation carriers. Conclusion: This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out.
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| 2. |
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| 3. |
- Cox, Angela, et al.
(författare)
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A common coding variant in CASP8 is associated with breast cancer risk
- 2007
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 39:3, s. 352-358
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Tidskriftsartikel (refereegranskat)abstract
- The Breast Cancer Association Consortium (BCAC) has been established to conduct combined case-control analyses with augmented statistical power to try to confirm putative genetic associations with breast cancer. We genotyped nine SNPs for which there was some prior evidence of an association with breast cancer: CASP8 D302H (rs1045485), IGFBP3 -202 C --> A (rs2854744), SOD2 V16A (rs1799725), TGFB1 L10P (rs1982073), ATM S49C (rs1800054), ADH1B 3' UTR A --> G (rs1042026), CDKN1A S31R (rs1801270), ICAM5 V301I (rs1056538) and NUMA1 A794G (rs3750913). We included data from 9-15 studies, comprising 11,391-18,290 cases and 14,753-22,670 controls. We found evidence of an association with breast cancer for CASP8 D302H (with odds ratios (OR) of 0.89 (95% confidence interval (c.i.): 0.85-0.94) and 0.74 (95% c.i.: 0.62-0.87) for heterozygotes and rare homozygotes, respectively, compared with common homozygotes; P(trend) = 1.1 x 10(-7)) and weaker evidence for TGFB1 L10P (OR = 1.07 (95% c.i.: 1.02-1.13) and 1.16 (95% c.i.: 1.08-1.25), respectively; P(trend) = 2.8 x 10(-5)). These results demonstrate that common breast cancer susceptibility alleles with small effects on risk can be identified, given sufficiently powerful studies.
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| 5. |
- Soderberg, A. M., et al.
(författare)
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Discovery of a Relativistic Supernova Without a Gamma-ray Trigger
- 2009
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Annan publikation (populärvet., debatt m.m.)abstract
- Type Ibc supernovae (SNe Ibc) mark the gravitational collapse of some massive stars (M > 20 Msun) propelling several solar masses of material to typical velocities of ~10,000 km/s. The closely-related but exceedingly rare class of long-duration gamma-ray bursts (GRBs) produce, in addition, a relativistic outflow powered by a central engine (accreting black hole or neutron star) and have been found exclusively through their gamma-ray signal. Here we report the discovery of luminous radio emission from the seemingly ordinary Type Ibc SN 2009bb which outshines that of all other SNe Ibc observed on a comparable timescale. These observations require a substantial mildly-relativistic outflow and indicate that the explosion was powered by a central engine, thus representing the first such event discovered without the aid of a gamma-ray trigger. A comparison with our extensive radio survey of SNe Ibc reveals that the fraction of such events is low (roughly 1 percent), measured independently from, and yet consistent with, the inferred rate of nearby GRBs. This discovery marks the observational realization that long-wavelength surveys will soon rival gamma-ray satellites in pinpointing nearby engine-driven explosions.
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| 6. |
- Garcia-Closas, Montserrat, et al.
(författare)
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Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics
- 2008
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Ingår i: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 4:4, s. e1000054-
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Tidskriftsartikel (refereegranskat)abstract
- A three-stage genome-wide association study recently identified single nucleotide polymorphisms (SNPs) in five loci (fibroblast growth receptor 2 (FGFR2), trinucleotide repeat containing 9 (TNRC9), mitogen-activated protein kinase 3 K1 (MAP3K1), 8q24, and lymphocyte-specific protein 1 (LSP1)) associated with breast cancer risk. We investigated whether the associations between these SNPs and breast cancer risk varied by clinically important tumor characteristics in up to 23,039 invasive breast cancer cases and 26,273 controls from 20 studies. We also evaluated their influence on overall survival in 13,527 cases from 13 studies. All participants were of European or Asian origin. rs2981582 in FGFR2 was more strongly related to ER-positive (per-allele OR (95%CI) = 1.31 (1.27-1.36)) than ER-negative (1.08 (1.03-1.14)) disease (P for heterogeneity = 10(-13)). This SNP was also more strongly related to PR-positive, low grade and node positive tumors (P = 10(-5), 10(-8), 0.013, respectively). The association for rs13281615 in 8q24 was stronger for ER-positive, PR-positive, and low grade tumors (P = 0.001, 0.011 and 10(-4), respectively). The differences in the associations between SNPs in FGFR2 and 8q24 and risk by ER and grade remained significant after permutation adjustment for multiple comparisons and after adjustment for other tumor characteristics. Three SNPs (rs2981582, rs3803662, and rs889312) showed weak but significant associations with ER-negative disease, the strongest association being for rs3803662 in TNRC9 (1.14 (1.09-1.21)). rs13281615 in 8q24 was associated with an improvement in survival after diagnosis (per-allele HR = 0.90 (0.83-0.97). The association was attenuated and non-significant after adjusting for known prognostic factors. Our findings show that common genetic variants influence the pathological subtype of breast cancer and provide further support for the hypothesis that ER-positive and ER-negative disease are biologically distinct. Understanding the etiologic heterogeneity of breast cancer may ultimately result in improvements in prevention, early detection, and treatment.
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| 9. |
- Leloudas, G., et al.
(författare)
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The normal Type Ia SN 2003hv out to very late phases
- 2009
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 505:1, s. 265-279
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Tidskriftsartikel (refereegranskat)abstract
- Aims: We study a thermonuclear supernova (SN), emphasizing very late phases. Methods: An extensive dataset for SN 2003hv that covers the flux evolution from maximum light to day +786 is presented. This includes 82 epochs of optical imaging, 24 epochs of near-infrared (NIR) imaging, and 10 epochs of optical spectroscopy. These data are combined with published nebular-phase IR spectra, and the observations are compared to model light curves and synthetic nebular spectra. Results: SN 2003hv is a normal Type Ia supernova (SN Ia) with photometric and spectroscopic properties consistent with its rarely observed B-band decline-rate parameter, Δ m15(B) = 1.61 ± 0.02. The blueshift of the most isolated [Fe ii] lines in the nebular-phase optical spectrum appears consistent with those observed in the IR at similar epochs. At late times there is a prevalent color evolution from the optical toward the NIR bands. We present the latest-ever detection of a SN Ia in the NIR in Hubble Space Telescope images. The study of the ultraviolet/optical/infrared (UVOIR) light curve reveals that a substantial fraction of the flux is “missing” at late times. Between 300 and 700 days past maximum brightness, the UVOIR light curve declines linearly following the decay of radioactive 56Co, assuming full and instantaneous positron trapping. At 700 days we detect a possible slowdown of the decline in optical-bands, mainly in the V-band. Conclusions: The data are incompatible with a dramatic infrared catastrophe (IRC). However, the idea that an IRC occurred in the densest regions before 350 days can explain the missing flux from the UVOIR wavelengths and the flat-topped profiles in the NIR. We argue that such a scenario is possible if the ejecta are clumpy. The observations suggest that positrons are most likely trapped in the ejecta. Based on observations collected at the European Southern Observatory, Paranal, Chile (ESO Programmes 073.D-0294(AB), 074.D-0259(BC) and 075.D-0116(AB)), Cerro Tololo Inter-American Observatory, Lick Observatory, Las Campanas Observatory, Siding Spring Observatory, and the Hubble Space Telescope. Tables 3, 4, and Appendix A are only available in electronic form at http://www.aanda.org
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