Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibility alleles. The pattern of association at these loci is consistent in BRCA1 and BRCA2 mutation carriers who are at high risk of EOC. After imputation to 1000 Genomes Project data, we assessed associations of 11 million genetic variants with EOC risk from 15,437 cases unselected for family history and 30,845 controls and from 15,252 BRCA1 mutation carriers and 8,211 BRCA2 mutation carriers (3,096 with ovarian cancer), and we combined the results in a meta-analysis. This new study design yielded increased statistical power, leading to the discovery of six new EOC susceptibility loci. Variants at 1p36 (nearest gene, WNT4), 4q26 (SYNPO2), 9q34.2 (ABO) and 17q11.2 (ATAD5) were associated with EOC risk, and at 1p34.3 (RSPO1) and 6p22.1 (GPX6) variants were specifically associated with the serous EOC subtype, all with P < 5 × 10(-8). Incorporating these variants into risk assessment tools will improve clinical risk predictions for BRCA1 and BRCA2 mutation carriers.COGS project is funded through a European Commission's Seventh Framework Programme grant (agreement number 223175 ] HEALTH ]F2 ]2009 ]223175). The CIMBA data management and data analysis were supported by Cancer Research.UK grants 12292/A11174 and C1287/A10118. The Ovarian Cancer Association Consortium is supported by a grant from the Ovarian Cancer Research Fund thanks to donations by the family and friends of Kathryn Sladek Smith (PPD/RPCI.07). The scientific development and funding for this project were in part supported by the US National Cancer Institute GAME ]ON Post ]GWAS Initiative (U19 ]CA148112). This study made use of data generated by the Wellcome Trust Case Control consortium. Funding for the project was provided by the Wellcome Trust under award 076113. The results published here are in part based upon data generated by The Cancer Genome Atlas Pilot Project established by the National Cancer Institute and National Human Genome Research Institute (dbGap accession number phs000178.v8.p7). The cBio portal is developed and maintained by the Computational Biology Center at Memorial Sloan ] Kettering Cancer Center. SH is supported by an NHMRC Program Grant to GCT. Details of the funding of individual investigators and studies are provided in the Supplementary Note. This study made use of data generated by the Wellcome Trust Case Control consortium, funding for which was provided by the Wellcome Trust under award 076113. The results published here are, in part, based upon data generated by The Cancer Genome Atlas Pilot Project established by the National Cancerhttp://dx.doi.org/10.1038/ng.3185This is the Author Accepted Manuscript of 'Identification of six new susceptibility loci for invasive epithelial ovarian cancer' which was published in Nature Genetics 47, 164–171 (2015) © Nature Publishing Group - content may only be used for academic research

Beneficios de ORCID para las instituciones

Los beneficios de ORCID: conexiones confiables, alcance internacional, formularios pre-llenados, actualizaciones de ex-alumnos, las máquinas hacen el trabajo, uso de datos con consentimiento, los de datos con consentimiento.Consejo Nacional de Ciencia, Tecnología e Innovación Tecnológica - Concyte

¿Que es ORCID, qué hacemos y por qué?

Tendencias en gestión de investigación: ● Documentar el impacto a través de marcos de desempeño de la investigación ● Reducir la carga del investigador... pero estos dos objetivos parecen ser opuestos? Desambiguación del nombre de investigador:Los identificadores para personas, lugares y cosas mejoran la interoperabilidad y la sincronización de metadatos confiables en todos los sistemas.Consejo Nacional de Ciencia, Tecnología e Innovación Tecnológica - Concyte

<i>Ledebouria caesiomontana</i> A.J.Hankey & N.Hahn (Hyacinthaceae: Hyacinthoideae): A new species from the Blouberg centre of endemism, Limpopo, South Africa

Background: Ledebouria Roth (Hyacinthaceae: Hyacinthoideae) is a largely African genus with, more or less, 40 species occurring in South Africa. The species was first collected in December 1990 by R. Archer [Archer, R.H. 503 (PRE)] and remained un-identified. Subsequently, N. Hahn also collected the species in 1992 [N. Hahn 444 (ZPB)] and, upon failing to resolve the identity of the specimen, he approached A. Hankey who initiated further collaborative research. Objective: To describe the new species of Ledebouria from Blouberg mountain massif in Limpopo Province, South Africa. Method: Relevant existing specimens in herbaria were examined and morphological characters and states noted. The type specimen was collected during an expedition under the guidance of Prof. Dirk Bellstedt accompanied by Mr Adam Harrower. Results: Ledebouria caesiomontana A.J.Hankey & N.Hahn sp. nov. was described and illustrated. The new species was distinguished from its closest relative, Ledebouria papillata S.Venter, by the ovary which lacks basal lobes, as well the absence of cataphylls and the irregular papillate ridges present only on the upper leaf surfaces. Conclusion: Ledebouria caesiomontana is a new species restricted to the Blouberg mountain massif in Limpopo Province, South Africa. Initial estimates deem the species to be vulnerable (VU D2) as a result of especially anthropogenic-induced disturbances on the Blouberg

Ledebouria caesiomontana A.J.Hankey & N.Hahn (Hyacinthaceae: Hyacinthoideae) : a new species from the Blouberg centre of endemism, Limpopo, South Africa

CITATION: Hankey, A. J., Hahn, N. & Buys, M. H. 2014. Ledebouria caesiomontana A.J.Hankey & N.Hahn (Hyacinthaceae: Hyacinthoideae) : a new species from the Blouberg centre of endemism, Limpopo, South Africa. Bothalia - African Biodiversity and Conservation, 44(1), Art. #119, doi: 10.4102/abc.v44i1.119.The original publication is available at http://abcjournal.orgBackground: Ledebouria Roth (Hyacinthaceae: Hyacinthoideae) is a largely African genus with, more or less, 40 species occurring in South Africa. The species was first collected in December 1990 by R. Archer [Archer, R.H. 503 (PRE)] and remained un-identified. Subsequently, N. Hahn also collected the species in 1992 [N. Hahn 444 (ZPB)] and, upon failing to resolve the identity of the specimen, he approached A. Hankey who initiated further collaborative research. Objective: To describe the new species of Ledebouria from Blouberg mountain massif in Limpopo Province, South Africa. Method: Relevant existing specimens in herbaria were examined and morphological characters and states noted. The type specimen was collected during an expedition under the guidance of Prof. Dirk Bellstedt accompanied by Mr Adam Harrower. Results: Ledebouria caesiomontana A.J.Hankey & N.Hahn sp. nov. was described and illustrated. The new species was distinguished from its closest relative, Ledebouria papillata S.Venter, by the ovary which lacks basal lobes, as well the absence of cataphylls and the irregular papillate ridges present only on the upper leaf surfaces. Conclusion: Ledebouria caesiomontana is a new species restricted to the Blouberg mountain massif in Limpopo Province, South Africa. Initial estimates deem the species to be vulnerable (VU D2) as a result of especially anthropogenic-induced disturbances on the Blouberg.http://abcjournal.org/index.php/ABC/article/view/119Publisher's versio

Taxonomic research in South Africa : the state of the discipline

CITATION: Smith, G. F. et al. 2008. Taxonomic research in South Africa : the state of the discipline. South African Journal of Science, 104:254-256.The original publication is available at https://www.sajs.co.zaThe need for taxonomy is imperative as we cannot protect organisms that are not known and which remain unidentified and uncharacterised, thereby limiting our capacity to understand them and to assess the influence of environmental change and other alterations in their condition. There is currently insufficient taxonomic capacity to keep abreast of the rate of new discoveries - our museums and herbaria already contain numerous unnamed species that await description. We outline the steps that our taxonomists have taken to promote their work - through conferences and the establishment of professional societies - and make the case for its enhanced support as an integral part of science policy.Publisher's versio