| 1. |
- Barnes, DR, et al.
(författare)
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Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores
- 2022
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Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 1460-2105 .- 0027-8874. ; 114:1, s. 109-122
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundRecent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers.Methods483 BRCA1 and 1318 BRCA2 European ancestry male carriers were available from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A 147-single nucleotide polymorphism (SNP) prostate cancer PRS (PRSPC) and a 313-SNP breast cancer PRS were evaluated. There were 3 versions of the breast cancer PRS, optimized to predict overall (PRSBC), estrogen receptor (ER)–negative (PRSER-), or ER-positive (PRSER+) breast cancer risk.ResultsPRSER+ yielded the strongest association with breast cancer risk. The odds ratios (ORs) per PRSER+ standard deviation estimates were 1.40 (95% confidence interval [CI] =1.07 to 1.83) for BRCA1 and 1.33 (95% CI = 1.16 to 1.52) for BRCA2 carriers. PRSPC was associated with prostate cancer risk for BRCA1 (OR = 1.73, 95% CI = 1.28 to 2.33) and BRCA2 (OR = 1.60, 95% CI = 1.34 to 1.91) carriers. The estimated breast cancer odds ratios were larger after adjusting for female relative breast cancer family history. By age 85 years, for BRCA2 carriers, the breast cancer risk varied from 7.7% to 18.4% and prostate cancer risk from 34.1% to 87.6% between the 5th and 95th percentiles of the PRS distributions.ConclusionsPopulation-based prostate and female breast cancer PRS are associated with a wide range of absolute breast and prostate cancer risks for male BRCA1 and BRCA2 carriers. These findings warrant further investigation aimed at providing personalized cancer risks for male carriers and informing clinical management.
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| 2. |
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| 3. |
- Allentoft, Morten E., et al.
(författare)
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Population genomics of post-glacial western Eurasia
- 2024
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Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 625:7994, s. 301-311
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Tidskriftsartikel (refereegranskat)abstract
- Western Eurasia witnessed several large-scale human migrations during the Holocene1–5. Here, to investigate the cross-continental effects of these migrations, we shotgun-sequenced 317 genomes—mainly from the Mesolithic and Neolithic periods—from across northern and western Eurasia. These were imputed alongside published data to obtain diploid genotypes from more than 1,600 ancient humans. Our analyses revealed a ‘great divide’ genomic boundary extending from the Black Sea to the Baltic. Mesolithic hunter-gatherers were highly genetically differentiated east and west of this zone, and the effect of the neolithization was equally disparate. Large-scale ancestry shifts occurred in the west as farming was introduced, including near-total replacement of hunter-gatherers in many areas, whereas no substantial ancestry shifts happened east of the zone during the same period. Similarly, relatedness decreased in the west from the Neolithic transition onwards, whereas, east of the Urals, relatedness remained high until around 4,000 bp, consistent with the persistence of localized groups of hunter-gatherers. The boundary dissolved when Yamnaya-related ancestry spread across western Eurasia around 5,000 bp, resulting in a second major turnover that reached most parts of Europe within a 1,000-year span. The genetic origin and fate of the Yamnaya have remained elusive, but we show that hunter-gatherers from the Middle Don region contributed ancestry to them. Yamnaya groups later admixed with individuals associated with the Globular Amphora culture before expanding into Europe. Similar turnovers occurred in western Siberia, where we report new genomic data from a ‘Neolithic steppe’ cline spanning the Siberian forest steppe to Lake Baikal. These prehistoric migrations had profound and lasting effects on the genetic diversity of Eurasian populations.
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| 4. |
- Merlone, A., et al.
(författare)
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The MeteoMet project - metrology for meteorology: challenges and results
- 2015
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Ingår i: Meteorological Applications. - : Wiley. - 1350-4827 .- 1469-8080. ; 22, s. 820-829
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Tidskriftsartikel (refereegranskat)abstract
- The study describes significant outcomes of the Metrology for Meteorology' project, MeteoMet, which is an attempt to bridge the meteorological and metrological communities. The concept of traceability, an idea used in both fields but with a subtle difference in meaning, is at the heart of the project. For meteorology, a traceable measurement is the one that can be traced back to a particular instrument, time and location. From a metrological perspective, traceability further implies that the measurement can be traced back to a primary realization of the quantity being measured in terms of the base units of the International System of Units, the SI. These two perspectives reflect long-standing differences in culture and practice and this project - and this study - represents only the first step towards better communication between the two communities. The 3 year MeteoMet project was funded by the European Metrology Research Program (EMRP) and involved 18 European National Metrological Institutes, 3 universities and 35 collaborating stakeholders including national meteorology organizations, research institutes, universities, associations and instrument companies. The project brought a metrological perspective to several long-standing measurement problems in meteorology and climatology, varying from conventional ground-based measurements to those made in the upper atmosphere. It included development and testing of novel instrumentation as well as improved calibration procedures and facilities, instrument intercomparison under realistic conditions and best practice dissemination. Additionally, the validation of historical temperature data series with respect to measurement uncertainties and a methodology for recalculation of the values were included.
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| 5. |
- Patterson, Nick, et al.
(författare)
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Large-scale migration into Britain during the Middle to Late Bronze Age
- 2022
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Ingår i: Nature. - : Nature Publishing Group. - 0028-0836 .- 1476-4687. ; , s. 588-594
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Tidskriftsartikel (refereegranskat)abstract
- Present-day people from England and Wales harbour more ancestry derived from Early European Farmers (EEF) than people of the Early Bronze Age1. To understand this, we generated genome-wide data from 793 individuals, increasing data from the Middle to Late Bronze and Iron Age in Britain by 12-fold, and Western and Central Europe by 3.5-fold. Between 1000 and 875 BC, EEF ancestry increased in southern Britain (England and Wales) but not northern Britain (Scotland) due to incorporation of migrants who arrived at this time and over previous centuries, and who were genetically most similar to ancient individuals from France. These migrants contributed about half the ancestry of Iron Age people of England and Wales, thereby creating a plausible vector for the spread of early Celtic languages into Britain. These patterns are part of a broader trend of EEF ancestry becoming more similar across central and western Europe in the Middle to Late Bronze Age, coincident with archaeological evidence of intensified cultural exchange2-6. There was comparatively less gene flow from continental Europe during the Iron Age, and Britain's independent genetic trajectory is also reflected in the rise of the allele conferring lactase persistence to ~50% by this time compared to ~7% in central Europe where it rose rapidly in frequency only a millennium later. This suggests that dairy products were used in qualitatively different ways in Britain and in central Europe over this period.
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| 6. |
- Oláh, János, et al.
(författare)
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Lineage sorting by parameres in Limnephilinae subfamily (Trichoptera): with description of a new tribe, new genera and new species
- 2019
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Ingår i: Opuscula Zoologica Instituti Zoosystematici et Oecologici Universitatis Budapestinensis. - 0237-5419 .- 2063-1588. ; 50:S1, s. 3-98
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Tidskriftsartikel (refereegranskat)abstract
- The discovery of the new Agaphylax genus with unique paramere organisation has initiated our lineage sorting oftribes by parameres in the Limnephilinae subfamily applying the principles and procedures of fine phenomics in order toestablish transformation series of the polarized plesiomorphy-apomorphy character states for each limnephiline genera.According to the extraordinary high diversity the paramere that is the stimulatory and titillating structure of the phallic organis a speciation supertrait. This adaptive trait is directly involved in the processes of reproductive isolation and diverging assubtle initial split of lineages producing the incipient sibling species in the recent past of contemporary speciation processes.Contrary, the drastic divergence of the Agaphylax plated paramere is much older, similarly to the many-spined parameres ofthe Hesperophylacini tribe. It has been initiated by drastic combined and synchronous external and internal stochastic effects,processed in ancestral sexual integrative adaptation as well as organised and fixed in older and deeper coalescence events andappears as a character with tribe ranking potential. To open a wider perspective, a systemic relational analysis is required inthe future including other adaptive or neutral character transformation series, due to the burden of taxonomic incongruencesgrounded by chimerism in stochastic genetic reticulation. Traits of species are mixed products coming from various sources.Only character combinations can and ought to be analysed in terms how to classify taxa. We have polarized eight genitaliccharacters additional to parameres for a future analysis of the potential of character combinations.Limnephilinae subfamily is composed of Limnephilini, Chilostigmatini, Chaetopterygini, Stenophylacini and Hesperophylacinitribes and here we established the new Agaphylacini tribe. Based on parameres we have delineated taxa in lineagesorting and described two new genera: Fogophylax gen. nov., Simaphylax gen. nov. and fourteen new species: Anaboliaalsoja, A. hepehupa, Asynarchus kimaros, Limnephilus kerekes, L. maghrebensis, L. oblos, Homophylax beges, H. coros,Chaetopteroides plackovicensis, C. rilaensis, Allogamus ketpar, Platyphylax beshkovi, Pycnopsyche letova and P. telea spp.nov. The by-product of this survey is a world atlas of paramere drawings for the entire Limnephilinae subfamily.
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| 7. |
- Oláh, János, et al.
(författare)
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Revision of the European Rhyacophila fasciata species complex by fine phenomics of the paramere (Trichoptera, Rhyacophilidae)
- 2020
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Ingår i: Opuscula Zoologica Instituti Zoosystematici et Oecologici Universitatis Budapestinensis. - 0237-5419 .- 2063-1588. ; 51:1, s. 21-54
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Tidskriftsartikel (refereegranskat)abstract
- The poorly known, so called widely distributed and highly varying species of the European Rhyacophila fasciata species complex are revised by fine phenomics of the paramere organisation. In this species complex paramere is the most diverse organ. It is the speciation trait integrating the initial split of speciation by its stimulatory and titillating function involved in the early processes of reproductive isolation. Based on paramere organisation and on the character state of distribution three lineages have been delineated in the Rhyacophila fasciata species complex: the European R. fasciata lineage, the Caucasian R. aliena lineage and the R. mysica lineage distributed from Albania to Pakistan. In the R. fasciata lineage we have distinguished three clades of species: R. fasciata with five species, R. matrensis with seven species, and R. denticulata with seven species. We have re-diagnosed three known species: R. fasciata Hagen, 1859, R. denticulataMcLachlan, 1879, R. sociata Navas, 1916 and described 15 species new to science: R. biharensis Oláh sp. nov., R. bulgarica Oláh sp. nov., R. coppai Oláh sp. nov., R. csornahorensis Oláh & Szczęsny sp. nov., R. ferda Oláh sp. nov., R. kopasa Oláh & Coppa sp. nov., R. matrensis Oláh, & Szczęsny sp. nov., R. retezatensis Oláh sp. nov., R. rova Oláh & Coppa sp. nov. R. ruda Oláh & Johanson sp. nov., R. salfa Oláh sp. nov., R. soreda Coppa & Oláh sp. nov. R. suna Oláh sp. nov., R. tuhega Oláh sp. nov., R. zemplenensis Oláh sp. nov. The species status of Rhyacophila gemella Navas, 1923 was reinstated.
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