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| 3. |
- Antoniou, A. C., et al.
(författare)
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Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers : Implications for risk prediction
- 2010
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Ingår i: Cancer Research. - : American Association for Cancer Research. - 0008-5472 .- 1538-7445. ; 70:23, s. 9742-9754
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Tidskriftsartikel (refereegranskat)abstract
- The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR = 1.10, 95% CI: 1.03-1.18, P = 0.006 and HR = 1.09, 95% CI: 1.01-1.19, P = 0.03, respectively). Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P = 7 × 10-11 - 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42% to 50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences might be sufficient to influence the clinical management of mutation carriers.
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- Myalski, S., et al.
(författare)
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Study of Isomer Production Rates for A=142-152 and Z=62-67 in Fragmentation of a Relativistic 208Pb Beam
- 2012
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Ingår i: Acta Physica Polonica. Series B: Elementary Particle Physics, Nuclear Physics, Statistical Physics, Theory of Relativity, Field Theory. - 0587-4254. ; 43:2, s. 253-259
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Tidskriftsartikel (refereegranskat)abstract
- We have investigated nuclear fragmentation reactions of a relativistic Pb-208 beam. Ten isomeric states for nuclei with A = 142-152 and Z = 62-67 were observed. Measured isomeric ratios were compared, together with values from other experiments, with prediction of theoretical models. The discrepancies between the experimental and theoretical values were discussed in terms of transitions by-passing the isomer that are not included in the models.
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- 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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| 7. |
- 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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| 8. |
- Koldste, G. T., et al.
(författare)
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Multiparticle emission in the decay of Ar-31
- 2014
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Ingår i: Physical Review C - Nuclear Physics. - 2469-9985 .- 2469-9993. ; 89:6
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Tidskriftsartikel (refereegranskat)abstract
- A multihit capacity setup was used to study the decay of the dripline nucleus Ar-31, produced at the ISOLDE facility at CERN. A spectroscopic analysis of the beta-delayed three-proton decay of Ar-31 is presented for the first time together with a quantitative analysis of the beta-delayed 2p gamma decay. A new method for determination of the spin of low-lying levels in the beta p daughter 30S using proton-proton angular correlations is presented and used to determine that the spin of the 5.2-MeV level is most likely 3(+) with 4(+) also possible. The half-life of Ar-31 is found to be 15.1(3) ms. An improved analysis of the Fermi beta strength including the beta 3p-decay mode gives a total measured branching ratio of 3.60(44)%, which is lower than the theoretical value found to be 4.24(43)%. Finally, a previously unidentified. transition from the isobaric analog state in the decay of Ar-33 has been found.
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| 9. |
- Koldste, G. T., et al.
(författare)
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Relative proton and gamma widths of astrophysically important states in S-30 studied in the beta-delayed decay of Ar-31
- 2013
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Ingår i: Physical Review C - Nuclear Physics. - 2469-9985 .- 2469-9993. ; 87:5
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Tidskriftsartikel (refereegranskat)abstract
- Resonances just above the proton threshold in S-30 affect the P-29(p, gamma)S-30 reaction under astrophysical conditions. The (p,gamma)-reaction rate is currently determined indirectly and depends on the properties of the relevant resonances. We present here a method for finding the ratio between the proton and gamma partial widths of resonances in S-30. The widths are determined from the beta 2p- and beta p gamma-decay of Ar-31, which is produced at the ISOLDE radioactive ion beam facility at the European research organization CERN. Experimental limits on the ratio between the proton and gamma partial widths for astrophysical relevant levels in S-30 have been found for the first time. A level at 4689.2(24) keV is identified in the gamma spectrum, and an upper limit on the Gamma(p)/ Gamma gamma ratio of 0.26 (95% C.L.) is found. In the two-proton spectrum two levels at 5227(3) keV and 5847(4) keV are identified. These levels were previously seen to gamma decay and upper limits on the Gamma(gamma)/Gamma(p) ratio of 0.5 and 9, respectively, (95% C.L.) are found, where the latter differs from previous calculations.
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| 10. |
- Koldste, G. T., et al.
(författare)
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Sizeable beta-strength in Ar-31 (beta 3p) decay
- 2014
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Ingår i: Physics Letters, Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 737, s. 383-387
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Tidskriftsartikel (refereegranskat)abstract
- We present for the first time precise spectroscopic information on the recently discovered decay mode beta-delayed 3p-emission. The detection of the 3p events gives an increased sensitivity to the high energy part of the Gamow-Teller strength distribution from the decay of Ar-31 revealing that as much as 30% of the strength resides in the beta 3p-decaymode. A simplified description of how the main decay modes evolve as the excitation energy increases in Cl-31 is provided.
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