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- Escala-Garcia, Maria, et al.
(författare)
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A network analysis to identify mediators of germline-driven differences in breast cancer prognosis
- 2020
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Ingår i: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- Identifying the underlying genetic drivers of the heritability of breast cancer prognosis remains elusive. We adapt a network-based approach to handle underpowered complex datasets to provide new insights into the potential function of germline variants in breast cancer prognosis. This network-based analysis studies similar to 7.3 million variants in 84,457 breast cancer patients in relation to breast cancer survival and confirms the results on 12,381 independent patients. Aggregating the prognostic effects of genetic variants across multiple genes, we identify four gene modules associated with survival in estrogen receptor (ER)-negative and one in ER-positive disease. The modules show biological enrichment for cancer-related processes such as G-alpha signaling, circadian clock, angiogenesis, and Rho-GTPases in apoptosis.
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- Figlioli, G, et al.
(författare)
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The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
- 2020
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Ingår i: Cancers. - : MDPI AG. - 2072-6694. ; 12:2
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Tidskriftsartikel (refereegranskat)abstract
- Germline protein truncating variants (PTVs) in the FANCM gene have been associated with a 2–4-fold increased breast cancer risk in case-control studies conducted in different European populations. However, the distribution and the frequency of FANCM PTVs in Europe have never been investigated. In the present study, we collected the data of 114 European female breast cancer cases with FANCM PTVs ascertained in 20 centers from 13 European countries. We identified 27 different FANCM PTVs. The p.Gln1701* PTV is the most common PTV in Northern Europe with a maximum frequency in Finland and a lower relative frequency in Southern Europe. On the contrary, p.Arg1931* seems to be the most common PTV in Southern Europe. We also showed that p.Arg658*, the third most common PTV, is more frequent in Central Europe, and p.Gln498Thrfs*7 is probably a founder variant from Lithuania. Of the 23 rare or unique FANCM PTVs, 15 have not been previously reported. We provide here the initial spectrum of FANCM PTVs in European breast cancer cases.
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- Mavaddat, N, et al.
(författare)
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Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers
- 2020
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Ingår i: Breast cancer research : BCR. - : Springer Science and Business Media LLC. - 1465-542X. ; 22:1, s. 8-
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundThe effect of risk-reducing salpingo-oophorectomy (RRSO) on breast cancer risk forBRCA1andBRCA2mutation carriers is uncertain. Retrospective analyses have suggested a protective effect but may be substantially biased. Prospective studies have had limited power, particularly forBRCA2mutation carriers. Further, previous studies have not considered the effect of RRSO in the context of natural menopause.MethodsA multi-centre prospective cohort of 2272BRCA1and 1605BRCA2mutation carriers was followed for a mean of 5.4 and 4.9 years, respectively; 426 women developed incident breast cancer. RRSO was modelled as a time-dependent covariate in Cox regression, and its effect assessed in premenopausal and postmenopausal women.ResultsThere was no association between RRSO and breast cancer forBRCA1(HR = 1.23; 95% CI 0.94–1.61) orBRCA2(HR = 0.88; 95% CI 0.62–1.24) mutation carriers. ForBRCA2mutation carriers, HRs were 0.68 (95% CI 0.40–1.15) and 1.07 (95% CI 0.69–1.64) for RRSO carried out before or after age 45 years, respectively. The HR forBRCA2mutation carriers decreased with increasing time since RRSO (HR = 0.51; 95% CI 0.26–0.99 for 5 years or longer after RRSO). Estimates for premenopausal women were similar.ConclusionWe found no evidence that RRSO reduces breast cancer risk forBRCA1mutation carriers. A potentially beneficial effect forBRCA2mutation carriers was observed, particularly after 5 years following RRSO. These results may inform counselling and management of carriers with respect to RRSO.
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- Ovejas, J. D., et al.
(författare)
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Halo effects in the low-energy scattering of 15 C with heavy targets
- 2020
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Ingår i: Acta Physica Polonica, Series B.. - 1509-5770 .- 0587-4254. ; 51:3, s. 731-736
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Tidskriftsartikel (refereegranskat)abstract
- The neutron-rich carbon isotope 15C was postulated to be a halo nucleus (Sn = 1215 keV, S2n = 9395 keV) according to different high-energy experiments. If so, it would be the only halo nucleus exhibiting a "pure" s-wave structure of the ground state. At low collision energies, the effect of this halo structure should manifest as a strong absorption pattern in the angular distribution of the elastic cross section, with a total suppression of the nuclear rainbow due to the large neutron transfer and breakup probabilities, enhanced by the halo configuration. The IS619 experiment, carried out at the HIE-ISOLDE facility at CERN (Switzerland), is the first dynamical study of this nucleus at energies around the Coulomb barrier. It aims to probe the halo structure via the measurement of the elastic cross section on a high-Z 208Pb target. Preliminary results of the elastic cross section are discussed and compared to Optical Model calculations.
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- Ovejas, J. D., et al.
(författare)
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Study of the scattering of 15C at energies around the Coulomb barrier
- 2020
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Ingår i: Journal of Physics: Conference Series. - : IOP Publishing. - 1742-6588 .- 1742-6596. ; 1643:1
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Konferensbidrag (refereegranskat)abstract
- The neutron rich carbon isotope 15C is the only known case of an almost "pure"2s1/2 single-neutron halo ground state configuration. At collision energies around the Coulomb barrier the reaction dynamics is expected to be dominated by single neutron transfer and breakup. To investigate these effects, we have measured the scattering of 15C with a 208Pb target at 65 MeV at the HIE-ISOLDE facility in CERN (Geneva, Switzerland). The preliminary data demonstrates the presence of a strong long-range absorption pattern in the angular distribution of the elastic cross section. The results are discussed in the framework of Optical Model calculations.
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