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- Hakkaart, C, et al.
(author)
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Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
- 2022
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In: Communications biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 5:1, s. 1061-
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Journal article (peer-reviewed)abstract
- The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biological validation. Notably, the HR for deletions in BRCA1 suggested an elevated breast cancer risk estimate (hazard ratio (HR) = 1.21), 95% confidence interval (95% CI = 1.09–1.35) compared with non-CNV pathogenic variants. In contrast, deletions overlapping SULT1A1 suggested a decreased breast cancer risk (HR = 0.73, 95% CI 0.59-0.91) in BRCA1 pathogenic variant carriers. Functional analyses of SULT1A1 showed that reduced mRNA expression in pathogenic BRCA1 variant cells was associated with reduced cellular proliferation and reduced DNA damage after treatment with DNA damaging agents. These data provide evidence that deleterious variants in BRCA1 plus SULT1A1 deletions contribute to variable breast cancer risk in BRCA1 carriers.
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- Bordé, P., et al.
(author)
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Transiting exoplanets from the CoRoT space mission: XXIX. The hot Jupiters CoRoT-30 b and CoRoT-31 b
- 2020
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In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 635
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Journal article (peer-reviewed)abstract
- We report the discovery as well as the orbital and physical characterizations of two new transiting giant exoplanets, CoRoT-30 b and CoRoT-31 b, with the CoRoT space telescope. Methods. We analyzed two complementary data sets: photometric transit light curves measured by CoRoT, and radial velocity curves measured by the HARPS spectrometer. To derive the absolute masses and radii of the planets, we modeled the stars from available magnitudes and spectra. Results. We find that CoRoT-30 b is a warm Jupiter on a close-to-circular 9.06-day orbit around a G3V star with a semi-major axis of about 0.08 AU. It has a radius of 1.01 ± 0.08 RJ, a mass of 2.90 ± 0.22 MJ, and therefore a mean density of 3.45 ± 0.65 g cm-3. The hot Jupiter CoRoT-31 b is on a close-to-circular 4.63-day orbit around a G2 IV star with a semi-major axis of about 0.05 AU. It has a radius of 1.46 ± 0.30 RJ, a mass of 0.84 ± 0.34 MJ, and therefore a mean density of 0.33 ± 0.18 g cm-3. Conclusions. Neither system seems to support the claim that stars hosting planets are more depleted in lithium. The radii of both planets are close to that of Jupiter, but they differ in mass; CoRoT-30 b is ten times denser than CoRoT-31 b. The core of CoRoT-30 b would weigh between 15 and 75 Earth masses, whereas relatively weak constraints favor no core for CoRoT-31 b. In terms of evolution, the characteristics of CoRoT-31 b appear to be compatible with the high-eccentricity migration scenario, which is not the case for CoRoT-30 b. The angular momentum of CoRoT-31 b is currently too low for the planet to evolve toward synchronization of its orbital revolution with stellar rotation, and the planet will slowly spiral-in while its host star becomes a red giant. CoRoT-30 b is not synchronized either: it looses angular momentum owing to stellar winds and is expected reach steady state in about 2 Gyr. CoRoT-30 and 31, as a pair, are a truly remarkable example of diversity in systems with hot Jupiters.
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- Loeber, JG, et al.
(author)
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Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
- 2021
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In: International journal of neonatal screening. - : MDPI AG. - 2409-515X. ; 7:1
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Journal article (peer-reviewed)abstract
- Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass spectrometry (MS/MS), making it possible to screen for 40–50 conditions using a single blood spot. The most recent additions to screening programmes (screening for cystic fibrosis, severe combined immunodeficiency and spinal muscular atrophy) were assisted by or realised through the introduction of molecular technologies. For this survey, we collected data from 51 European countries. We report the developments between 2010 and 2020 and highlight the achievements reached with the progress made in this period. We also identify areas where further progress can be made, mainly by exchanging knowledge and learning from experiences in neighbouring countries. Between 2010 and 2020, most NBS programmes in geographical Europe matured considerably, both in terms of methodology (modernised) and with regard to the panel of conditions screened (expanded). These developments indicate that more collaboration in Europe through European organisations is gaining momentum. We can only accomplish the timely detection of newborn infants potentially suffering from one of the many rare diseases and take appropriate action by working together.
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