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1. Deregulation and epigenetic modification of BCL2-family genes cause resistance to venetoclax in hematologic malignancies

Author

Thomalla, D., Beckmann, L., Grimm, C., Oliverio, M., Meder, L., Herling, C.D., Nieper, P., Feldmann, T., Merkel, O., Lorsy, E., da Palma Guerreiro, A., von Jan, J., Kisis, I., Wasserburger, E., Claasen, J., Faitschuk-Meyer, E., Altmüller, J., Nürnberg, P., Yang, T.-P., Lienhard, M., Herwig, R., Kreuzer, K.-A., Pallasch, C.P., Büttner, R., Schäfer, S.C., Hartley, J., Abken, H., Peifer, M., Kashkar, H., Knittel, G., Eichhorst, B., Ullrich, R.T., Herling, M., Reinhardt, H.C., Hallek, M., Schweiger, M.R., and Frenzel, L.P.

Published
2022
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2. Data publication: Sustainable methyl formate generation by dehydrogenation of green methanol over Cu_SiO₂/MgO

Author

Beckmann, L., (0009-0007-3878-0734) Friedrich, S., (0000-0002-6176-8561) Kaiser, D., Störr, B., (0000-0003-1387-1318) Mertens, F., Atia, H., Wohlrab, S., Llorca, J., (0000-0003-1236-1164) Bertau, M., Beckmann, L., (0009-0007-3878-0734) Friedrich, S., (0000-0002-6176-8561) Kaiser, D., Störr, B., (0000-0003-1387-1318) Mertens, F., Atia, H., Wohlrab, S., Llorca, J., and (0000-0003-1236-1164) Bertau, M.

Abstract

For research data please contact the corrsponding author. Data publications from research of Freiberg University of Mining and Technology can be found here: http://opara.zih.tu-dresden.de/handle/123456789/21.

Published
2024

4. Sustainable methyl formate generation by dehydrogenation of green methanol over Cu_SiO₂/MgO

Author

Beckmann, L., (0009-0007-3878-0734) Friedrich, S., (0000-0002-6176-8561) Kaiser, D., Störr, B., (0000-0003-1387-1318) Mertens, F., Atia, H., Wohlrab, S., Llorca, J., (0000-0003-1236-1164) Bertau, M., Beckmann, L., (0009-0007-3878-0734) Friedrich, S., (0000-0002-6176-8561) Kaiser, D., Störr, B., (0000-0003-1387-1318) Mertens, F., Atia, H., Wohlrab, S., Llorca, J., and (0000-0003-1236-1164) Bertau, M.

Abstract

Copper impregnated SiO₂ and MgO catalysts were prepared, characterised, and tested for the synthesis of methyl formate (MF) from methanol by dehydrogenation. Compared to the Cu-impregnated pure oxides, MF formation was improved when SiO₂/MgO mixtures were used as support. For further comparison, a silver impregnated mixed oxide catalyst, known for its dehydrogenation ability, and a typical methanol catalyst (Cu/ZnO/Al₂O₃) were tested. Both catalysts displayed non or poorer performance under tested reaction conditions. High catalytic activity was assigned, besides the Cu content, to the presence of both medium acidic and basic sites. At 240 °C and 1 bar, the highest MF yield of 34 % has been obtained with the mixture of oxides containing the highest MgO ratio of 35 mol%. By exposing the prepared catalyst to a methanol/water mixture (36 wt% water), methanol conversion drops to 5 %, but compared to the reference Cu/ZnO/Al₂O₃ catalyst, two times the selectivity towards MF was obtained. With respect to sustainable technology development, direct coupling of green methanol synthesis from CO₂/H₂ gas feed and MF production without water removal is not recommended, since the yield to MF is below 2 % in this case.

Published
2024

9. Statutory health insurance coverage of noninvasive prenatal testing (NIPT)

Author

Skeide, A, Tegethoff, D, Beckmann, L, Schlüter-Cruse, M, Deutsche Gesellschaft für Hebammenwissenschaft e.V. (DGHWi), and German Society of Midwifery Science

Subjects
ddc: 610, 610 Medical sciences, Medicine
Abstract

In its position paper on statutory health insurance coverage of what is referred to as noninvasive prenatal testing (NIPT), the German Society of Midwifery Science (DGHWi) argues for the tests to be covered by statutory health insurance as this would also ensure the necessary government monitoring and psychosocial and medical advice and support. At the same time, the DGHWi urges for structural measures to be taken to support the statutory health insurance coverage of NIPT. These include, most importantly, comprehensive government support for families of children with special needs. Health insurance coverage of NIPT must also be accompanied by extensive social science research to facilitate a better understanding of this complex technology and its ethical, political and social implications., In ihrem Positionspapier zur Kassenzulassung von sogenannten Nichtinvasiven Pränatalen Tests (NIPTs) spricht sich die Deutsche Gesellschaft für Hebammenwissenschaft (DGHWi) für eine Kostenübernahme der Tests durch die gesetzliche Krankenversicherung aus, da auf diese Weise die notwendige staatliche Steuerung und psychosoziale und medizinische Beratung und Begleitung gewährleistet werden kann. Gleichzeitig drängt die DGHWi auf strukturelle Maßnahmen, die die Kassenzulassung von NIPTs begleiten sollten. Dazu gehört vor allem eine umfassende staatliche Unterstützung von Familien mit Kindern mit besonderen Bedarfen. Die Kassenzulassung von NIPTs sollte umfänglich sozialwissenschaftlich begleitet werden, um diese komplexe Technologie und ihre ethischen, politischen und sozialen Effekte besser zu verstehen., GMS Zeitschrift für Hebammenwissenschaft; 8:Doc01

Published
2021

10. Beta-binomial and other models in meta-analyses with very few studies

Author

Felsch, M, Beckmann, L, Bender, R, Kuß, O, Skipka, G, and Mathes, T

Subjects
ddc: 610, meta-analyses, very few studies, 610 Medical sciences, Medicine, beta-binomial model
Abstract

Background: Random effects meta-analyses face difficulties when used in situations with very few (2 – 4) studies [ref:1]. As heterogeneity between the studies cannot be reliably estimated, this can lead to biased point estimates and too narrow confidence intervals [ref:2].[for full text, please go to the a.m. URL], 65th Annual Meeting of the German Association for Medical Informatics, Biometry and Epidemiology (GMDS), Meeting of the Central European Network (CEN: German Region, Austro-Swiss Region and Polish Region) of the International Biometric Society (IBS)

Published
2021
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11. Fallstricke bei Matching-Adjusted Indirect Comparisons

Author

Beckmann, L and Bender, R

Subjects
MAIC, ddc: 610, indirekter Vergleich, matching-adjusted indirect comparisons, 610 Medical sciences, Medicine
Abstract

Für Vergleiche von Therapien werden in der Regel direkt vergleichende, randomisierte Studien, herangezogen, da diese geeignet sind, mit ausreichender Ergebnissicherheit auf kausale Effekte schließen zu können. Liegen keine direkt vergleichenden Studien vor, kann auf indirekte Vergleiche[zum vollständigen Text gelangen Sie über die oben angegebene URL], 65th Annual Meeting of the German Association for Medical Informatics, Biometry and Epidemiology (GMDS), Meeting of the Central European Network (CEN: German Region, Austro-Swiss Region and Polish Region) of the International Biometric Society (IBS)

Published
2021
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12. Kassenzulassung von Nichtinvasiven Pränatalen Tests (NIPTs)

Author

Skeide, A, Tegethoff, D, Beckmann, L, Schlüter-Cruse, M, Deutsche Gesellschaft für Hebammenwissenschaft e.V. (DGHWi), German Society of Midwifery Science, Skeide, A, Tegethoff, D, Beckmann, L, Schlüter-Cruse, M, Deutsche Gesellschaft für Hebammenwissenschaft e.V. (DGHWi), and German Society of Midwifery Science

Abstract

In its position paper on statutory health insurance coverage of what is referred to as noninvasive prenatal testing (NIPT), the German Society of Midwifery Science (DGHWi) argues for the tests to be covered by statutory health insurance as this would also ensure the necessary government monitoring and psychosocial and medical advice and support. At the same time, the DGHWi urges for structural measures to be taken to support the statutory health insurance coverage of NIPT. These include, most importantly, comprehensive government support for families of children with special needs. Health insurance coverage of NIPT must also be accompanied by extensive social science research to facilitate a better understanding of this complex technology and its ethical, political and social implications., In ihrem Positionspapier zur Kassenzulassung von sogenannten Nichtinvasiven Pränatalen Tests (NIPTs) spricht sich die Deutsche Gesellschaft für Hebammenwissenschaft (DGHWi) für eine Kostenübernahme der Tests durch die gesetzliche Krankenversicherung aus, da auf diese Weise die notwendige staatliche Steuerung und psychosoziale und medizinische Beratung und Begleitung gewährleistet werden kann. Gleichzeitig drängt die DGHWi auf strukturelle Maßnahmen, die die Kassenzulassung von NIPTs begleiten sollten. Dazu gehört vor allem eine umfassende staatliche Unterstützung von Familien mit Kindern mit besonderen Bedarfen. Die Kassenzulassung von NIPTs sollte umfänglich sozialwissenschaftlich begleitet werden, um diese komplexe Technologie und ihre ethischen, politischen und sozialen Effekte besser zu verstehen.

Published
2021

20. Analyse longitudinaler Daten in einem gemischten Modell mit Messwiederholungen mittels der SAS-Prozedur PROC MIXED

Author

Beckmann, L, Grouven, U, and Skipka, G

Subjects
MMRM, ddc: 610, gemischtes Modell mit Messwiederholungen, Mixed Models Repeated Measures, SAS, 610 Medical sciences, Medicine, longitudinale Daten
Abstract

In klinischen Studien werden für Patientinnen und Patienten häufig medizinische Daten, insbesondere zur gesundheitsbezogenen Lebensqualität und zur Symptomatik, zu aufeinanderfolgenden Zeitpunkten erhoben. Für die Auswertung dieser longitudinalen Daten werden in der Literatur sowohl[zum vollständigen Text gelangen Sie über die oben angegebene URL], 64. Jahrestagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie e.V. (GMDS)

Published
2019
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24. A global cline in a colour polymorphism suggests a limited contribution of gene flow towards the recovery of a heavily exploited marine mammal

Author

Hoffman, J. I., Bauer, E., Paijmans, A. J., Humble, E., Beckmann, L. M., Kubetschek, C., Christaller, F., Kröcker, N., Fuchs, B., Moreras, A., Shihlomule, Y. D., Bester, M. N., Cleary, A. C., De Bruyn, P. J. N., Forcada, J., Goebel, M. E., Goldsworthy, S. D., Guinet, C., Hoelzel, A. R., Lydersen, C., Kovacs, K. M., Lowther, A., Department of Animal Behaviour, Universität Bielefeld, Department of Zoology and Entomology [Pretoria], University of Pretoria [South Africa], Norwegian Polar Institute, British Antarctic Survey NERC [UK], Antarctic Ecosystem Research Division, National Oceanic and Atmospheric Administration (NOAA)-National Marine Fisheries Service, South Australian Research and Development Institute [Australia], Centre d'Études Biologiques de Chizé - UMR 7372 (CEBC), Université de La Rochelle (ULR)-Centre National de la Recherche Scientifique (CNRS)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Durham University, Department of Zoology and Entomology University of Pretoria, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Recherche Agronomique (INRA)-Université de La Rochelle (ULR), Department of Biosciences - Durham University [UK], and Institut National de la Recherche Agronomique (INRA)-Université de La Rochelle (ULR)-Centre National de la Recherche Scientifique (CNRS)

Subjects
fur seal, Biology (Whole Organism), population structure, melanocortin 1 receptor, colour polymorphism, [SDE]Environmental Sciences, melanocortin 1 receptor gene, lcsh:Q, lcsh:Science, Research Article, pinniped
Abstract

International audience; Evaluating how populations are connected by migration is important for understanding species resilience because gene flow can facilitate recovery from demographic declines. We therefore investigated the extent to which migration may have contributed to the global recovery of the Antarctic fur seal (Arctocephalus gazella), a circumpolar distributed marine mammal that was brought to the brink of extinction by the sealing industry in the eighteenth and nineteenth centuries. It is widely believed that animals emigrating from South Georgia, where a relict population escaped sealing, contributed to the re-establishment of formerly occupied breeding colonies across the geographical range of the species. To investigate this, we interrogated a genetic polymorphism (S291F) in the melanocortin 1 receptor gene, which is responsible for a cream-coloured phenotype that is relatively abundant at South Georgia and which appears to have recently spread to localities as far afield as Marion Island in the sub-Antarctic Indian Ocean. By sequencing a short region of this gene in 1492 pups from eight breeding colonies, we showed that S291F frequency rapidly declines with increasing geographical distance from South Georgia, consistent with locally restricted gene flow from South Georgia mainly to the South Shetland Islands and Bouvetøya. The S291F allele was not detected farther afield, suggesting that although emigrants from South Georgia may have been locally important, they are unlikely to have played a major role in the recovery of geographically more distant populations.

Published
2018
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25. Untersuchung von Methoden zur Überprüfbarkeit von Ergebnissen von Studienpopulationen auf Teilpopulationen

Author

Beckmann, L, Grouven, U, Kieser, M, Sieben, W, Skipka, G, and Bender, R

Subjects
ddc: 610, transferability, lcsh:R858-859.7, Simulationsstudie, lcsh:RC109-216, Übertragbarkeit, 610 Medical sciences, Medicine, lcsh:Computer applications to medicine. Medical informatics, simulation study, subpopulation, Teilpopulation, lcsh:Infectious and parasitic diseases
Abstract

Background: When assessing the benefit of an intervention, the study population (SP) may consist of a relevant target population (ZP) and a non-relevant population (nZP). We consider the situation that a significant treatment effect is observed only in SP but not in ZP leading to the question if and how the effect in SP may be used for conclusions about the effect in ZP. Methods: We assessed three test procedures: the first increases the level of significance αZP for ZP (elevation rule, ER). The second procedure involves a permutation-based test for a qualitative interaction between ZP and nZP (extension rule, EWR). The third one is a modification of the EWR, which takes the relation between ZP and nZP into account. In a simulation study, we compared the empirical type 1 error and power for all three test procedures. Results: EWR unacceptably exceeds the significance level for some simulated parameter constellations (median 5.8%, maximum 15.9%). The modified version of EWR has a lower empirical type 1 error (median 5.5%, maximum 10.2%). But EWR has no advantages with respect to the empirical power and type 1 error compared to ER with an increased significance level of αZP=15%. Conclusion: ER, with an increased significance level of αZP=15%, is the appropriate procedure with respect to the empirical power, when accepting a slightly increased type 1 error (median 6.1%, maximum 10.9% over all simulated scenarios)., Hintergrund: In Nutzenbewertungen kann der Fall auftreten, dass sich die Studienpopulation (SP) aus einer relevanten Zielpopulation (ZP) und Nicht-ZP (nZP) zusammensetzt und ein nicht statistisch signifikanter Behandlungseffekt in ZP und ein statistisch signifikanter Behandlungseffekt in SP vorliegt. Es stellt sich hier die Frage unter welchen Umständen und mit welcher Methodik das Ergebnis in SP auf ZP übertragen werden kann. Methoden: Wir haben drei Testprozeduren untersucht: eine Anhebung des Signifikanzniveaus αZP für ZP (Anhebungsregel, AHR), eine Testprozedur, die auf einem permutationsbasierten Test auf qualitative Interaktion zwischen ZP und nZP beruht (Erweiterungsregel, EWR) sowie eine Modifikation derselben. Die Testprozeduren wurden in einer Simulationsstudie bzgl. des empirischen Fehlers 1. Art und der empirischen Power verglichen. Ergebnisse: Die EWR zeigte für einzelne Datenkonstellationen eine nicht akzeptable Niveauüberschreitung (Median 5,8%, Maximum 15,9%). Die modifizierte EWR unter Berücksichtigung der Relation der Stichprobengrößen in ZP und nZP führte zwar zu einer Reduktion des empirischen Fehlers 1. Art (Median 5,5%, Maximum 10,2%). Ein Vergleich bezüglich empirischer Power und Fehler 1. Art mit der AHR mit einer Erhöhung des Signifikanzniveaus auf αZP=15% ließ jedoch insgesamt keine Vorteile erkennen. Schlussfolgerung: Bei Inkaufnahme einer geringen Niveauüberschreitung (Median 6,1%, Maximum 10,9% in den untersuchten Datenkonstellationen) stellt die AHR mit bedingter Erhöhung des Signifikanzniveaus auf αZP=15% unter Berücksichtigung des Fehlers 1. Art und der Power das geeignetste Verfahren dar., GMS Medizinische Informatik, Biometrie und Epidemiologie; 14(2):Doc11

Published
2018
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28. Prognostische und prädiktive Daten in der medizinischen Entscheidungsfindung am Beispiel Brustkrebs

Author

Scheibler, F, Mühlbauer, V, Zimmer, B, Beckmann, L, Angelescu, K, Fleer, D, and Mühlhauser, I

Subjects
ddc: 610, 610 Medical sciences, Medicine
Abstract

Zielsetzung: Dieser Workshop fokussiert die Themen Prognose und Prädiktion am Beispiel Mammakarzinom. Methodische, klinische und Patientenperspektive sollen beleuchtet und ein evidenzbasierter Umgang mit diesen Daten erarbeitet werden. Relevanz: Während Sinn und Notwendigkeit (hochentwickelter)[zum vollständigen Text gelangen Sie über die oben angegebene URL], Klasse statt Masse – wider die wertlose Wissenschaft; 18. Jahrestagung des Deutschen Netzwerks Evidenzbasierte Medizin

Published
2017
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29. Entwicklung und Anwendung von In-vivo-Methoden zur Untersuchung der Protein-S-Acylierung am Tonoplasten in Arabidopsis thaliana

Author

Beckmann, L. (Linda), Kudla, J. (Jörg), and Universitäts- und Landesbibliothek Münster

Subjects
Protein-S-Acylierung, Lipidmodifikationen, Tonoplast, Protein-S-Acyltransferasen (PATs), Calcineurin B-ähnliche Proteine (CBLs), Proteine der pflanzlichen hypersensitiven Antwort (HIR), ddc:570, Biology
Abstract

In Arabidopsis thaliana wurden 24 Protein-S-Acyltransferasen (PATs) und 600 S-acylierte Proteine identifiziert. Über die physiologischen Funktionen der pflanzlichen PATs und die Identität ihrer Substrate ist jedoch nicht viel bekannt. In dieser Arbeit wurden neue Methoden entwickelt, mit denen funktionale PAT-Substrat Module in vivo ermittelt werden können. Diese Methoden wurden angewendet, um die Lipidmodifikation von Calcineurin B-ähnlichen Proteinen aus A. thaliana durch verschiedene pflanzliche PATs zu identifizieren und weiter zu charakterisieren. Darüber hinaus wurde ein Protein der pflanzlichen hypersensitiven Antwort (HIR1) durch Anwendung der neu etablierten Methoden als S-Acylierungssubstrat identifiziert. Die in dieser Arbeit erzielten Ergebnisse zeigen die Anwendbarkeit der neuen Methoden zur Untersuchung der Protein-S-Acylierung, sowie deren Mechanismen und Funktionen.

Published
2016

30. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

Author

Lin, W.Y., Camp, N.J., Ghoussaini, M., Beesley, J., Michailidou, K., Hopper, J.L., Apicella, C., Southey, M.C., Stone, J., Schmidt, M.K., Broeks, A., Van't Veer, L.J., Rutgers, E.J.T., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Fasching, P.A., Haeberle, L., Ekici, A.B., Beckmann, M.W., Peto, J., Dos-Santos-Silva, I., Fletcher, O., Johnson, N., Bolla, M.K., Wang, Q., Dennis, J., Sawyer, E.J., Cheng, T., Tomlinson, I., Kerin, M.J., Miller, N., Marme, F., Surowy, H.M., Burwinkel, B., Guenel, P., Truong, T., Menegaux, F., Mulot, C., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Benitez, J., Zamora, M.P., Perez, J.I.A., Menendez, P., Gonzalez-Neira, A., Pita, G., Alonso, M.R., Alvarez, N., Herrera, D., Anton-Culver, H., Brenner, H., Dieffenbach, A.K., Arndt, V., Stegmaier, C., Meindl, A., Lichtner, P., Schmutzler, R.K., Muller-Myhsok, B., Brauch, H., Bruning, T., Ko, Y.D., Tessier, D.C., Vincent, D., Bacot, F., Nevanlinna, H., Aittomaki, K., Blomqvist, C., Khan, S., Matsuo, K., Ito, H., Iwata, H., Horio, A., Bogdanova, N.V., Antonenkova, N.N., Dork, T., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V.M., Hartikainen, J.M., Wu, A.H., Tseng, C.C., Berg, D. van den, Stram, D.O., Neven, P., Wauters, E., Wildiers, H., Lambrechts, D., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Radice, P., Peterlongo, P., Manoukian, S., Bonanni, B., Couch, F.J., Wang, X.S., Vachon, C., Purrington, K., Giles, G.G., Milne, R.L., Mclean, C., Haiman, C.A., Henderson, B.E., Schumacher, F., Marchand, L. le, Simard, J., Goldberg, M.S., Labreche, F., Dumont, M., Teo, S.H., Yip, C.H., Hassan, N., Vithana, E.N., Kristensen, V., Zheng, W., Deming-Halverson, S., Shrubsole, M.J., Long, J.R., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Kauppila, S., Andrulis, I.L., Knight, J.A., Glendon, G., Tchatchou, S., Devilee, P., Tollenaar, R.A.E.M., Seynaeve, C., Asperen, C.J. van, Garcia-Closas, M., Figueroa, J., Lissowska, J., Brinton, L., Czene, K., Darabi, H., Eriksson, M., Brand, J.S., Hooning, M.J., Hollestelle, A., Ouweland, A.M.W. van den, Jager, A., Li, J.M., Liu, J.J., Humphreys, K., Shu, X.O., Lu, W., Gao, Y.T., Cai, H., Cross, S.S., Reed, M.W.R., Blot, W., Signorello, L.B., Cai, Q.Y., Pharoah, P.D.P., Perkins, B., Shah, M., Blows, F.M., Kang, D., Yoo, K.Y., Noh, D.Y., Hartman, M., Miao, H., Chia, K.S., Putti, T.C., Hamann, U., Luccarini, C., Baynes, C., Ahmed, S., Maranian, M., Healey, C.S., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Sangrajrang, S., Gaborieau, V., Brennan, P., Mckay, J., Slager, S., Toland, A.E., Yannoukakos, D., Shen, C.Y., Hsiung, C.N., Wu, P.E., Ding, S.L., Ashworth, A., Jones, M., Orr, N., Swerdlow, A.J., Tsimiklis, H., Makalic, E., Schmidt, D.F., Bui, Q.M., Chanock, S.J., Hunter, D.J., Hein, R., Dahmen, N., Beckmann, L., Aaltonen, K., Muranen, T.A., Heikkinen, T., Irwanto, A., Rahman, N., Turnbull, C.A., Waisfisz, Q., Meijers-Heijboer, H.E.J., Adank, M.A., Luijt, R.B. van der, Hall, P., Chenevix-Trench, G., Dunning, A., Easton, D.F., Cox, A., GENICA Network, kConFab Investigators, Australian Ovarian Canc Study Grp, Breast Ovarian Canc Susceptibility, Clinical Genetics, Obstetrics & Gynecology, Medical Oncology, Cardiothoracic Surgery, Cancer Center Amsterdam, Amsterdam Reproduction & Development (AR&D), Human Genetics, Human genetics, CCA - Oncogenesis, Ghoussaini, Maya [0000-0002-2415-2143], Wang, Jean [0000-0002-9139-0627], Dennis, Joe [0000-0003-4591-1214], Pharoah, Paul [0000-0001-8494-732X], Dunning, Alison [0000-0001-6651-7166], Easton, Douglas [0000-0003-2444-3247], and Apollo - University of Cambridge Repository

Subjects
Genotyping Techniques, Research Support, U.S. Gov't, P.H.S, CASP8 and FADD-Like Apoptosis Regulating Protein, Genome-wide association study, P.H.S, Medical and Health Sciences, Breast and Ovarian Cancer Susceptibility (BOCS) Study, Medizinische Fakultät, Genetics(clinical), Non-U.S. Gov't, Genetics (clinical), Genetics, Genetics & Heredity, variants, Caspase 8, Research Support, Non-U.S. Gov't, Association Studies Articles, General Medicine, Biological Sciences, ddc, Chromosomes, Human, Pair 2, kConFab Investigators, Female, GENICA Network, Australian Ovarian Cancer Study Group, European Continental Ancestry Group, Non-P.H.S, Single-nucleotide polymorphism, Breast Neoplasms, Biology, Research Support, Polymorphism, Single Nucleotide, White People, N.I.H, Breast cancer, Research Support, N.I.H., Extramural, SDG 3 - Good Health and Well-being, medicine, Journal Article, Humans, Genetic Predisposition to Disease, ddc:610, gene, Genotyping, Molecular Biology, Genetic association, disease, Extramural, Proteins, Odds ratio, medicine.disease, susceptibility loci, Minor allele frequency, Case-Control Studies, genome-wide association, enhancers, U.S. Gov't, casp8, Research Support, U.S. Gov't, Non-P.H.S, Genome-Wide Association Study
Abstract

Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regressionmodels adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further in data from nine genome-wide association studies (GWAS) comprising in total 10 052 case and 12 575 control subjects. The most significant association signal observed in European subjects was for the imputed intronic SNP rs1830298 in ALS2CR12 (telomeric to CASP8), with per allele odds ratio and 95% confidence interval [OR (95% confidence interval, CI)] for the minor allele of 1.05 (1.03-1.07), P = 1 × 10-5. Three additional independent signals from intronic SNPs were identified, in CASP8 (rs36043647), ALS2CR11 (rs59278883) and CFLAR (rs7558475). The association with rs1830298 was replicated in the imputed results from the combined GWAS (P=3 × 10-6), yielding a combined OR (95% CI) of 1.06 (1.04-1.08), P = 1 × 10-9. Analyses of gene expression associations in peripheral blood and normal breast tissue indicate that CASP8might be the target gene, suggesting amechanism involving apoptosis.

Published
2016
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31. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

Author

Hollestelle, A, Van Der Baan, FH, Berchuck, A, Johnatty, SE, Aben, KK, Agnarsson, BA, Aittomäki, K, Alducci, E, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Antoniou, AC, Apicella, C, Arndt, V, Arnold, N, Arun, BK, Arver, B, Ashworth, A, Baglietto, L, Balleine, R, Bandera, EV, Barrowdale, D, Bean, YT, Beckmann, L, Beckmann, MW, Benitez, J, Berger, A, Berger, R, Beuselinck, B, Bisogna, M, Bjorge, L, Blomqvist, C, Bogdanova, NV, Bojesen, A, Bojesen, SE, Bolla, MK, Bonanni, B, Brand, JS, Brauch, H, Brenner, H, Brinton, L, Brooks-Wilson, A, Bruinsma, F, Brunet, J, Brüning, T, Budzilowska, A, Bunker, CH, Burwinkel, B, Butzow, R, Buys, SS, Caligo, MA, Campbell, I, Carter, J, Chang-Claude, J, Chanock, SJ, Claes, KBM, Collée, JM, Cook, LS, Couch, FJ, Cox, A, Cramer, D, Cross, SS, Cunningham, JM, Cybulski, C, Czene, K, Damiola, F, Dansonka-Mieszkowska, A, Darabi, H, De La Hoya, M, Defazio, A, Dennis, J, Devilee, P, and Dicks, EM

Abstract

© 2015 Elsevier Inc. All rights reserved. Objective Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3′ UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer risk as well as with survival time. However, prior studies, emphasizing particular subgroups, were relatively small. Therefore, we comprehensively evaluated ovarian and breast cancer risks as well as clinical outcome associated with rs61764370. Methods Centralized genotyping and analysis were performed for 140,012 women enrolled in the Ovarian Cancer Association Consortium (15,357 ovarian cancer patients; 30,816 controls), the Breast Cancer Association Consortium (33,530 breast cancer patients; 37,640 controls), and the Consortium of Modifiers of BRCA1 and BRCA2 (14,765 BRCA1 and 7904 BRCA2 mutation carriers). Results We found no association with risk of ovarian cancer (OR = 0.99, 95% CI 0.94-1.04, p = 0.74) or breast cancer (OR = 0.98, 95% CI 0.94-1.01, p = 0.19) and results were consistent among mutation carriers (BRCA1, ovarian cancer HR = 1.09, 95% CI 0.97-1.23, p = 0.14, breast cancer HR = 1.04, 95% CI 0.97-1.12, p = 0.27; BRCA2, ovarian cancer HR = 0.89, 95% CI 0.71-1.13, p = 0.34, breast cancer HR = 1.06, 95% CI 0.94-1.19, p = 0.35). Null results were also obtained for associations with overall survival following ovarian cancer (HR = 0.94, 95% CI 0.83-1.07, p = 0.38), breast cancer (HR = 0.96, 95% CI 0.87-1.06, p = 0.38), and all other previously-reported associations. Conclusions rs61764370 is not associated with risk of ovarian or breast cancer nor with clinical outcome for patients with these cancers. Therefore, genotyping this variant has no clinical utility related to the prediction or management of these cancers.

Published
2016
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32. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author

Couch, FJ, Kuchenbaecker, KB, Michailidou, K, Mendoza-Fandino, GA, Nord, S, Lilyquist, J, Olswold, C, Hallberg, E, Agata, S, Ahsan, H, Aittomäki, K, Ambrosone, C, Andrulis, IL, Anton-Culver, H, Arndt, V, Arun, BK, Arver, B, Barile, M, Barkardottir, RB, Barrowdale, D, Beckmann, L, Beckmann, MW, Benitez, J, Blank, SV, Blomqvist, C, Bogdanova, NV, Bojesen, SE, Bolla, MK, Bonanni, B, Brauch, H, Brenner, H, Burwinkel, B, Buys, SS, Caldes, T, Caligo, MA, Canzian, F, Carpenter, J, Chang-Claude, J, Chanock, SJ, Chung, WK, Claes, KBM, Cox, A, Cross, SS, Cunningham, JM, Czene, K, Daly, MB, Damiola, F, Darabi, H, De La Hoya, M, Devilee, P, Diez, O, Ding, YC, Dolcetti, R, Domchek, SM, Dorfling, CM, Dos-Santos-Silva, I, Dumont, M, Dunning, AM, Eccles, DM, Ehrencrona, H, Ekici, AB, Eliassen, H, Ellis, S, Fasching, PA, Figueroa, J, Flesch-Janys, D, Försti, A, Fostira, F, Foulkes, WD, Friebel, T, Friedman, E, Frost, D, Gabrielson, M, Gammon, MD, Ganz, PA, Gapstur, SM, Garber, J, Gaudet, MM, Gayther, SA, Gerdes, AM, Ghoussaini, M, Giles, GG, Glendon, G, Godwin, AK, Goldberg, MS, Goldgar, DE, González-Neira, A, Greene, MH, Gronwald, J, Guénel, P, Gunter, M, Haeberle, L, and Haiman, CA

Subjects
skin and connective tissue diseases
Abstract

Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P

Published
2016
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33. Die außerklinische Geburt bei Status nach Sectio caesarea: Eine qualitative Analyse zur Entscheidungsfindung der Eltern für den Geburtsort

Author

Beckmann, L, Dorin, L, Metzing, S, and Hellmers, C

Subjects
ddc: 610, cesarean section, Entscheidungsfindung, Sectio caesarea, 610 Medical sciences, Medicine, out-of-hospital birth, decision making, außerklinische Geburt
Abstract

Background: Nearly 1.6% of all births in Germany begin in an out-of-hospital setting. About 5% of these women had a prior cesarean section. Aim: This study explored the decision-making process of parents choosing the out-of-hospital setting for their next birth. Method: 10 couples were interviewed. All women had a prior cesarean section and started their next birth in an out-of-hospital setting. The mothers and fathers were interviewed separately. Structured content analysis was used to analyse the 20 interviews. Results: Some women considered an out-of-hospital setting for their first birth, but chose the hospital because of safety concerns of their partners, or for medical reasons. The negative experience they had while giving birth in the hospital influenced the parents’ decision to choose an out-of-hospital setting for their next birth. The decision about the birthplace was negotiated between the partners and with the advice of supportive health care providers. Often, relatives, friends and neighbors were neither involved nor informed. Conclusion: Empathic and sensitive behavior of the clinical health care provider has an influence on the birth experience. Professional and self-reflective behavior supports the well-being of the parents. There seems to be a correlation between the intimately held decision about place of birth and the lack of acceptance of out-of-hospital birth in society., Hintergrund: In Deutschland entscheiden sich jährlich ca. 1,6% der werdenden Eltern für eine außerklinische Geburt. Ca. 5% der Frauen hatten einen direkt vorausgegangenen Kaiserschnitt. Ziel: Diese Studie analysiert den Entscheidungsfindungsprozess der Eltern zur nächsten, außerklinisch angestrebten Geburt. Methode: Qualitative Interviews mit 10 Paaren, die sich nach einem Kaiserschnitt für die außerklinische Geburt entschieden. Die Mütter und Väter wurden einzeln befragt. Die inhaltsanalytische Auswertung der 20 Interviews erfolgte nach Mayring. Ergebnis: Einige Frauen hatten sich bereits in der ersten Schwangerschaft mit dem außerklinischen Geburtsort auseinandergesetzt, suchten aber wegen Sicherheitsbedenken der Partner oder aus medizinischen Gründen eine Klinik auf. Die dann folgende negative Klinikerfahrung beeinflusste die Entscheidung der Eltern für den außerklinischen Geburtsort beim nächsten Kind. Die Entscheidung wurde mit Hilfe professioneller medizinischer Unterstützung zwischen den Partnern ausgehandelt. Verwandte, Freunde und Nachbarn werden in einigen Fällen weder involviert noch informiert. Schlussfolgerung: Empathisches Verhalten der klinischen Fachkräfte hat einen Einfluss auf das Geburtserleben. Hier kann professionelles und selbstreflektierendes Verhalten zum Wohlbefinden der werdenden Eltern beitragen. Das Verschweigen des geplanten Geburtsortes scheint im Zusammenhang mit der fehlenden Akzeptanz des außerklinischen Geburtsortes in der Gesellschaft zu stehen., GMS Zeitschrift für Hebammenwissenschaft; 2:Doc01

Published
2015
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34. Treatment Switching in randomisierten kontrollierten Studien - eine Simulationsstudie

Author

Beckmann, L., Grouven, U., Guddat, C., and Bender, R.

Subjects
ddc: 610, 610 Medical sciences, Medicine
Abstract

Einleitung und Fragestellung: In onkologischen Studien ist im Studienverlauf häufig ein Wechsel der Behandlung, zum Beispiel von der Kontrollbehandlung auf die neue Therapie, möglich (Treatment Switching). Dies geschieht zumeist nach (radiologischer) Progression der Erkrankung. Ein Treatment[for full text, please go to the a.m. URL], GMDS 2014; 59. Jahrestagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie e.V. (GMDS)

Published
2014

35. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

Author

Hollestelle, A., Baan, F.H. van der, Berchuck, A., Johnatty, S.E., Aben, K.K.H., Agnarsson, B.A., Aittomaki, K., Alducci, E., Andrulis, I.L., Anton-Culver, H., Antonenkova, N.N., Antoniou, A.C., Apicella, C., Arndt, V., Arnold, N., Arun, B.K., Arver, B., Ashworth, A., Baglietto, L., Balleine, R., Bandera, E.V., Barrowdale, D., Bean, Y.T., Beckmann, L., Beckmann, M.W., Benitez, J., Berger, A., Berger, R., Beuselinck, B., Bisogna, M., Bjorge, L., Blomqvist, C., Bogdanova, N.V., Bojesen, A., Bojesen, S.E., Bolla, M.K., Bonanni, B., Brand, J.S., Brauch, H., Brenner, H., Brinton, L., Brooks-Wilson, A., Bruinsma, F., Brunet, J., Bruning, T., Budzilowska, A., Bunker, C.H., Burwinkel, B., Butzow, R., Buys, S.S., Caligo, M.A., Campbell, I., Carter, J., Chang-Claude, J., Chanock, S.J., Claes, K.B., Collee, J.M., Cook, L.S., Couch, F.J., Cox, A, Cramer, D., Cross, S.S., Cunningham, J.M., Cybulski, C., Czene, K., Damiola, F., Dansonka-Mieszkowska, A., Darabi, H., Hoya, M. de la, Defazio, A., Dennis, J., Devilee, P., Dicks, E.M., Diez, O., Doherty, J.A., Domchek, S.M., Dorfling, C.M., Dork, T., Silva Idos, S., Bois, A. du, Dumont, M., Dunning, A.M., Duran, M., Easton, D.F., Eccles, D., Edwards, R.P., Ehrencrona, H., Ejlertsen, B., Ekici, A.B., Ellis, S.D., Engel, C., Eriksson, M., Fasching, P.A., Feliubadalo, L., Figueroa, J., Flesch-Janys, D., Fletcher, O., Fontaine, A., Fortuzzi, S., Fostira, F., Kiemeney, L.A.L.M., Massuger, L.F.A.G., Mensenkamp, A.R., et al., Hollestelle, A., Baan, F.H. van der, Berchuck, A., Johnatty, S.E., Aben, K.K.H., Agnarsson, B.A., Aittomaki, K., Alducci, E., Andrulis, I.L., Anton-Culver, H., Antonenkova, N.N., Antoniou, A.C., Apicella, C., Arndt, V., Arnold, N., Arun, B.K., Arver, B., Ashworth, A., Baglietto, L., Balleine, R., Bandera, E.V., Barrowdale, D., Bean, Y.T., Beckmann, L., Beckmann, M.W., Benitez, J., Berger, A., Berger, R., Beuselinck, B., Bisogna, M., Bjorge, L., Blomqvist, C., Bogdanova, N.V., Bojesen, A., Bojesen, S.E., Bolla, M.K., Bonanni, B., Brand, J.S., Brauch, H., Brenner, H., Brinton, L., Brooks-Wilson, A., Bruinsma, F., Brunet, J., Bruning, T., Budzilowska, A., Bunker, C.H., Burwinkel, B., Butzow, R., Buys, S.S., Caligo, M.A., Campbell, I., Carter, J., Chang-Claude, J., Chanock, S.J., Claes, K.B., Collee, J.M., Cook, L.S., Couch, F.J., Cox, A, Cramer, D., Cross, S.S., Cunningham, J.M., Cybulski, C., Czene, K., Damiola, F., Dansonka-Mieszkowska, A., Darabi, H., Hoya, M. de la, Defazio, A., Dennis, J., Devilee, P., Dicks, E.M., Diez, O., Doherty, J.A., Domchek, S.M., Dorfling, C.M., Dork, T., Silva Idos, S., Bois, A. du, Dumont, M., Dunning, A.M., Duran, M., Easton, D.F., Eccles, D., Edwards, R.P., Ehrencrona, H., Ejlertsen, B., Ekici, A.B., Ellis, S.D., Engel, C., Eriksson, M., Fasching, P.A., Feliubadalo, L., Figueroa, J., Flesch-Janys, D., Fletcher, O., Fontaine, A., Fortuzzi, S., Fostira, F., Kiemeney, L.A.L.M., Massuger, L.F.A.G., Mensenkamp, A.R., and et al.

Abstract

Contains fulltext : 167534.pdf (publisher's version ) (Closed access), OBJECTIVE: Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3' UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer risk as well as with survival time. However, prior studies, emphasizing particular subgroups, were relatively small. Therefore, we comprehensively evaluated ovarian and breast cancer risks as well as clinical outcome associated with rs61764370. METHODS: Centralized genotyping and analysis were performed for 140,012 women enrolled in the Ovarian Cancer Association Consortium (15,357 ovarian cancer patients; 30,816 controls), the Breast Cancer Association Consortium (33,530 breast cancer patients; 37,640 controls), and the Consortium of Modifiers of BRCA1 and BRCA2 (14,765 BRCA1 and 7904 BRCA2 mutation carriers). Results : We found no association with risk of ovarian cancer (OR=0.99, 95% CI 0.94-1.04, p=0.74) or breast cancer (OR=0.98, 95% CI 0.94-1.01, p=0.19) and results were consistent among mutation carriers (BRCA1, ovarian cancer HR=1.09, 95% CI 0.97-1.23, p=0.14, breast cancer HR=1.04, 95% CI 0.97-1.12, p=0.27; BRCA2, ovarian cancer HR=0.89, 95% CI 0.71-1.13, p=0.34, breast cancer HR=1.06, 95% CI 0.94-1.19, p=0.35). Null results were also obtained for associations with overall survival following ovarian cancer (HR=0.94, 95% CI 0.83-1.07, p=0.38), breast cancer (HR=0.96, 95% CI 0.87-1.06, p=0.38), and all other previously-reported associations. CONCLUSIONS: rs61764370 is not associated with risk of ovarian or breast cancer nor with clinical outcome for patients with these cancers. Therefore, genotyping this variant has no clinical utility related to the prediction or management of these cancers.

Published
2016

36. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author

Couch, F.J. (Fergus), Kuchenbaecker, K.B. (Karoline), Michailidou, K. (Kyriaki), Mendoza-Fandino, G.A. (Gustavo A.), Nord, S. (Silje), Lilyquist, J. (Janna), Olswold, C. (Curtis), Hallberg, B. (Boubou), Agata, S. (Simona), Ahsan, H. (Habibul), Aittomäki, K. (Kristiina), Ambrosone, C.B. (Christine), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Arun, B.K. (Banu), Arver, B. (Brita Wasteson), Barile, M. (Monica), Barkardottir, R.B. (Rosa), Barrowdale, D. (Daniel), Beckmann, L. (Lars), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Blank, S.V. (Stephanie), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet), Bonnani, B. (Bernardo), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Burwinkel, B. (Barbara), Buys, S.S. (Saundra S.), Caldes, T. (Trinidad), Caligo, M.A. (Maria), Canzian, F. (Federico), Carpenter, T.A. (Adrian), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen J.), Chung, W.K. (Wendy K.), Claes, K.B.M. (Kathleen B.M.), Cox, A. (Angela), Cross, S.S. (Simon), Cunningham, J.M. (Julie), Czene, K. (Kamila), Daly, M.B. (Mary B.), Damiola, F. (Francesca), Darabi, H. (Hatef), Hoya, M. (Miguel) de La, Devilee, P. (Peter), Díez, O. (Orland), Ding, Y.C. (Yuan), Dolcetti, R. (Riccardo), Domchek, S.M. (Susan), Dorfling, C.M. (Cecilia), Santos Silva, I. (Isabel) dos, Dumont, M. (Martine), Dunning, A.M. (Alison), Eccles, D. (Diana), Ehrencrona, H. (Hans), Ekici, A.B. (Arif), Eliassen, H. (Heather), Ellis, S.D. (Steve), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Försti, A. (Asta), Fostira, F. (Florentia), Foulkes, W.D. (William), Friebel, M.O.W. (Mark ), Friedman, E. (Eitan), Frost, D. (Debra), Gabrielson, M. (Marike), Gammon, M. (Marilie), Ganz, P.A. (Patricia A.), Gapstur, S.M. (Susan M.), Garber, J. (Judy), Gaudet, M.M. (Mia), Gayther, S.A. (Simon), Gerdes, A-M. (Anne-Marie), Ghoussaini, M. (Maya), Giles, G.G. (Graham), Glendon, G. (Gord), Godwin, A.K. (Andrew K.), Goldberg, M.S. (Mark), Goldgar, D. (David), González-Neira, A. (Anna), Greene, M.H. (Mark H.), Gronwald, J. (Jacek), Guénel, P. (Pascal), Gunter, M.J. (Marc J.), Haeberle, L. (Lothar), Haiman, C.A. (Christopher A.), Hamann, U. (Ute), Hansen, T.V.O. (Thomas), Hart, S. (Stewart), Healey, S. (Sue), Heikkinen, T. (Tuomas), Henderson, B.E. (Brian), Herzog, J. (Josef), Hogervorst, F.B.L. (Frans), Hollestelle, A. (Antoinette), Hooning, M.J. (Maartje), Hoover, R.N. (Robert), Hopper, J.L. (John), Humphreys, K. (Keith), Hunter, D. (David), Huzarski, T. (Tomasz), Imyanitov, E.N. (Evgeny N.), Isaacs, C. (Claudine), Jakubowska, A. (Anna), James, M. (Margaret), Janavicius, R. (Ramunas), Jensen, U.B., John, E.M. (Esther), Jones, M. (Michael), Kabisch, M. (Maria), Kar, S. (Siddhartha), Karlan, B.Y. (Beth Y.), Khan, S. (Sofia), Khaw, K.T., Kibriya, M.G. (Muhammad), Knight, J.A. (Julia), Ko, Y.-D. (Yon-Dschun), Konstantopoulou, I. (I.), Kosma, V-M. (Veli-Matti), Kristensen, V. (Vessela), Kwong, A. (Ava), Laitman, Y. (Yael), Lambrechts, D. (Diether), Lázaro, C. (Conxi), Lee, E. (Eunjung), Le Marchand, L. (Loic), Lester, K.J. (Kathryn), Lindblom, A. (Annika), Lindor, N.M. (Noralane), Lindstrom, S. (Stephen), Liu, J. (Jianjun), Long, J. (Jirong), Lubinski, J. (Jan), Mai, P.L. (Phuong), Makalic, E. (Enes), Malone, K.E. (Kathleen E.), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Marme, F. (Federick), Martens, J.W.M. (John), McGuffog, L. (Lesley), Meindl, A. (Alfons), Miller, A. (Austin), Milne, R.L. (Roger), Miron, P. (Penelope), Montagna, M. (Marco), Mazoyer, S. (Sylvie), Mulligan, A.-M. (Anna-Marie), Muranen, T.A. (Taru), Nathanson, K.L. (Katherine), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Nordestgaard, B.G. (Børge), Nussbaum, R. (Robert), Offit, K. (Kenneth), Olah, E., Olopade, O.I. (Olufunmilayo I.), Olson, J.E. (Janet), Osorio, A. (Ana), Park, S.K. (Sue K.), Peeters, P.H.M., Peissel, B. (Bernard), Peterlongo, P. (Paolo), Peto, J. (Julian), Phelan, C. (Catherine), Pilarski, R. (Robert), Poppe, B. (Bruce), Pykäs, K. (Katri), Radice, P. (Paolo), Rahman, N. (Nazneen), Rantala, J. (Johanna), Rappaport, C. (Christine), Rennert, G. (Gad), Richardson, A.L. (Andrea), Robson, M. (Mark), Romieu, I. (Isabelle), Rudolph, A. (Anja), Rutgers, E.J.T. (Emiel), Sanchez, M.-J. (Maria-Jose), Santella, R. (Regina), Sawyer, E.J. (Elinor), Schmidt, D.F. (Daniel), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Schumacher, F.R. (Fredrick), Scott, R.J. (Rodney), Senter, L. (Leigha), Sharma, P. (Priyanka), Simard, J. (Jacques), Singer, C.F. (Christian), Sinilnikova, O. (Olga), Soucy, P. (Penny), Southey, M.C. (Melissa), Steinemann, D. (Doris), Stenmark-Askmalm, M. (Marie), Stoppa-Lyonnet, D. (Dominique), Swerdlow, A.J. (Anthony ), Szabo, C. (Csilla), Tamimi, R. (Rulla), Tapper, W. (William), Teixeira, P.J., Teo, S.-H. (Soo-Hwang), Terry, M.B. (Mary Beth), Thomassen, M. (Mads), Thompson, D. (Deborah), Tihomirova, L. (Laima), Toland, A.E. (Amanda), Tollenaar, R.A.E.M. (Rob), Tomlinson, I.P. (Ian), Truong, T. (Thérèse), Tsimiklis, H. (Helen), Teulé, A. (A.), Tumino, R. (Rosario), Tung, N. (Nadine), Turnbull, C. (Clare), Ursin, G. (Giski), Deurzen, C.H.M. (Carolien) van, Rensburg, E.J. (Elizabeth) van, Varon-Mateeva, R. (Raymonda), Wang, Z. (Zhaoming), Wang-Gohrke, S. (Shan), Weiderpass, E. (Elisabete), Weitzel, J.N. (Jeffrey), Whittemore, A.S. (Alice S.), Wildiers, H. (Hans), Winqvist, R. (Robert), Yang, X.R. (Xiaohong R.), Yannoukakos, D. (Drakoulis), Yao, S. (Song), Zamora, M.P. (Pilar), Zheng, W. (Wei), Hall, P. (Per), Kraft, P. (Peter), Vachon, C. (Celine), Slager, S. (Susan), Chenevix-Trench, G. (Georgia), Pharoah, P.D.P. (Paul), Monteiro, A.A.N. (Alvaro A. N.), García-Closas, M. (Montserrat), Easton, D.F. (Douglas F.), Antoniou, A.C. (Antonis), Couch, F.J. (Fergus), Kuchenbaecker, K.B. (Karoline), Michailidou, K. (Kyriaki), Mendoza-Fandino, G.A. (Gustavo A.), Nord, S. (Silje), Lilyquist, J. (Janna), Olswold, C. (Curtis), Hallberg, B. (Boubou), Agata, S. (Simona), Ahsan, H. (Habibul), Aittomäki, K. (Kristiina), Ambrosone, C.B. (Christine), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Arun, B.K. (Banu), Arver, B. (Brita Wasteson), Barile, M. (Monica), Barkardottir, R.B. (Rosa), Barrowdale, D. (Daniel), Beckmann, L. (Lars), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Blank, S.V. (Stephanie), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet), Bonnani, B. (Bernardo), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Burwinkel, B. (Barbara), Buys, S.S. (Saundra S.), Caldes, T. (Trinidad), Caligo, M.A. (Maria), Canzian, F. (Federico), Carpenter, T.A. (Adrian), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen J.), Chung, W.K. (Wendy K.), Claes, K.B.M. (Kathleen B.M.), Cox, A. (Angela), Cross, S.S. (Simon), Cunningham, J.M. (Julie), Czene, K. (Kamila), Daly, M.B. (Mary B.), Damiola, F. (Francesca), Darabi, H. (Hatef), Hoya, M. (Miguel) de La, Devilee, P. (Peter), Díez, O. (Orland), Ding, Y.C. (Yuan), Dolcetti, R. (Riccardo), Domchek, S.M. (Susan), Dorfling, C.M. (Cecilia), Santos Silva, I. (Isabel) dos, Dumont, M. (Martine), Dunning, A.M. (Alison), Eccles, D. (Diana), Ehrencrona, H. (Hans), Ekici, A.B. (Arif), Eliassen, H. (Heather), Ellis, S.D. (Steve), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Försti, A. (Asta), Fostira, F. (Florentia), Foulkes, W.D. (William), Friebel, M.O.W. (Mark ), Friedman, E. (Eitan), Frost, D. (Debra), Gabrielson, M. (Marike), Gammon, M. (Marilie), Ganz, P.A. (Patricia A.), Gapstur, S.M. (Susan M.), Garber, J. (Judy), Gaudet, M.M. (Mia), Gayther, S.A. (Simon), Gerdes, A-M. (Anne-Marie), Ghoussaini, M. (Maya), Giles, G.G. (Graham), Glendon, G. (Gord), Godwin, A.K. (Andrew K.), Goldberg, M.S. (Mark), Goldgar, D. (David), González-Neira, A. (Anna), Greene, M.H. (Mark H.), Gronwald, J. (Jacek), Guénel, P. (Pascal), Gunter, M.J. (Marc J.), Haeberle, L. (Lothar), Haiman, C.A. (Christopher A.), Hamann, U. (Ute), Hansen, T.V.O. (Thomas), Hart, S. (Stewart), Healey, S. (Sue), Heikkinen, T. (Tuomas), Henderson, B.E. (Brian), Herzog, J. (Josef), Hogervorst, F.B.L. (Frans), Hollestelle, A. (Antoinette), Hooning, M.J. (Maartje), Hoover, R.N. (Robert), Hopper, J.L. (John), Humphreys, K. (Keith), Hunter, D. (David), Huzarski, T. (Tomasz), Imyanitov, E.N. (Evgeny N.), Isaacs, C. (Claudine), Jakubowska, A. (Anna), James, M. (Margaret), Janavicius, R. (Ramunas), Jensen, U.B., John, E.M. (Esther), Jones, M. (Michael), Kabisch, M. (Maria), Kar, S. (Siddhartha), Karlan, B.Y. (Beth Y.), Khan, S. (Sofia), Khaw, K.T., Kibriya, M.G. (Muhammad), Knight, J.A. (Julia), Ko, Y.-D. (Yon-Dschun), Konstantopoulou, I. (I.), Kosma, V-M. (Veli-Matti), Kristensen, V. (Vessela), Kwong, A. (Ava), Laitman, Y. (Yael), Lambrechts, D. (Diether), Lázaro, C. (Conxi), Lee, E. (Eunjung), Le Marchand, L. (Loic), Lester, K.J. (Kathryn), Lindblom, A. (Annika), Lindor, N.M. (Noralane), Lindstrom, S. (Stephen), Liu, J. (Jianjun), Long, J. (Jirong), Lubinski, J. (Jan), Mai, P.L. (Phuong), Makalic, E. (Enes), Malone, K.E. (Kathleen E.), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Marme, F. (Federick), Martens, J.W.M. (John), McGuffog, L. (Lesley), Meindl, A. (Alfons), Miller, A. (Austin), Milne, R.L. (Roger), Miron, P. (Penelope), Montagna, M. (Marco), Mazoyer, S. (Sylvie), Mulligan, A.-M. (Anna-Marie), Muranen, T.A. (Taru), Nathanson, K.L. (Katherine), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Nordestgaard, B.G. (Børge), Nussbaum, R. (Robert), Offit, K. (Kenneth), Olah, E., Olopade, O.I. (Olufunmilayo I.), Olson, J.E. (Janet), Osorio, A. (Ana), Park, S.K. (Sue K.), Peeters, P.H.M., Peissel, B. (Bernard), Peterlongo, P. (Paolo), Peto, J. (Julian), Phelan, C. (Catherine), Pilarski, R. (Robert), Poppe, B. (Bruce), Pykäs, K. (Katri), Radice, P. (Paolo), Rahman, N. (Nazneen), Rantala, J. (Johanna), Rappaport, C. (Christine), Rennert, G. (Gad), Richardson, A.L. (Andrea), Robson, M. (Mark), Romieu, I. (Isabelle), Rudolph, A. (Anja), Rutgers, E.J.T. (Emiel), Sanchez, M.-J. (Maria-Jose), Santella, R. (Regina), Sawyer, E.J. (Elinor), Schmidt, D.F. (Daniel), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Schumacher, F.R. (Fredrick), Scott, R.J. (Rodney), Senter, L. (Leigha), Sharma, P. (Priyanka), Simard, J. (Jacques), Singer, C.F. (Christian), Sinilnikova, O. (Olga), Soucy, P. (Penny), Southey, M.C. (Melissa), Steinemann, D. (Doris), Stenmark-Askmalm, M. (Marie), Stoppa-Lyonnet, D. (Dominique), Swerdlow, A.J. (Anthony ), Szabo, C. (Csilla), Tamimi, R. (Rulla), Tapper, W. (William), Teixeira, P.J., Teo, S.-H. (Soo-Hwang), Terry, M.B. (Mary Beth), Thomassen, M. (Mads), Thompson, D. (Deborah), Tihomirova, L. (Laima), Toland, A.E. (Amanda), Tollenaar, R.A.E.M. (Rob), Tomlinson, I.P. (Ian), Truong, T. (Thérèse), Tsimiklis, H. (Helen), Teulé, A. (A.), Tumino, R. (Rosario), Tung, N. (Nadine), Turnbull, C. (Clare), Ursin, G. (Giski), Deurzen, C.H.M. (Carolien) van, Rensburg, E.J. (Elizabeth) van, Varon-Mateeva, R. (Raymonda), Wang, Z. (Zhaoming), Wang-Gohrke, S. (Shan), Weiderpass, E. (Elisabete), Weitzel, J.N. (Jeffrey), Whittemore, A.S. (Alice S.), Wildiers, H. (Hans), Winqvist, R. (Robert), Yang, X.R. (Xiaohong R.), Yannoukakos, D. (Drakoulis), Yao, S. (Song), Zamora, M.P. (Pilar), Zheng, W. (Wei), Hall, P. (Per), Kraft, P. (Peter), Vachon, C. (Celine), Slager, S. (Susan), Chenevix-Trench, G. (Georgia), Pharoah, P.D.P. (Paul), Monteiro, A.A.N. (Alvaro A. N.), García-Closas, M. (Montserrat), Easton, D.F. (Douglas F.), and Antoniou, A.C. (Antonis)

Abstract

Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10-8) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negati

Published
2016
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37. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

Author

Hollestelle, A. (Antoinette), Baan, F.H. (Frederieke) van der, Berchuck, A. (Andrew), Johnatty, S.E. (Sharon), Aben, K.K.H. (Katja), Agnarsson, B.A. (Bjarni), Aittomäki, K. (Kristiina), Alducci, E. (Elisa), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Antonenkova, N.N. (Natalia), Antoniou, A.C. (Antonis), Apicella, C. (Carmel), Arndt, V. (Volker), Arnold, N. (Norbert), Arun, B.K. (Banu), Arver, B. (Brita Wasteson), Ashworth, A. (Alan), Baglietto, L. (Laura), Balleine, R. (Rosemary), Bandera, E.V. (Elisa), Barrowdale, D. (Daniel), Bean, Y.T. (Yukie), Beckmann, L. (Lars), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Berger, A. (Andreas), Berger, R. (Raanan), Beuselinck, B. (B.), Bisogna, M. (Maria), Bjorge, L. (Line), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Bojesen, A. (Anders), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet), Bonnani, B. (Bernardo), Brand, J.S. (Judith S.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brinton, L.A. (Louise), Brooks-Wilson, A. (Angela), Bruinsma, F. (Fiona), Brunet, J. (Joan), Brüning, T. (Thomas), Budzilowska, A. (Agnieszka), Bunker, C.H. (Clareann H.), Burwinkel, B. (Barbara), Butzow, R. (Ralf), Buys, S.S. (Saundra S.), Caligo, M.A. (Maria), Campbell, I. (Ian), Carter, J. (Jonathan), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen J.), Claes, K.B.M. (Kathleen B.M.), Collée, J.M. (Margriet), Cook, L.S. (Linda S.), Couch, F.J. (Fergus), Cox, A. (Angela), Cramer, D.W. (Daniel), Cross, S.S. (Simon), Cunningham, J.M. (Julie), Cybulski, C. (Cezary), Czene, K. (Kamila), Damiola, F. (Francesca), Dansonka-Mieszkowska, A. (Agnieszka), Darabi, H. (Hatef), Hoya, M. (Miguel) de La, DeFazio, A. (Anna), Dennis, J. (Joe), Devilee, P. (Peter), Dicks, E. (Ed), Díez, O. (Orland), Doherty, J.A. (Jennifer A.), Domchek, S.M. (Susan), Dorfling, C.M. (Cecilia), Dörk, T. (Thilo), Santos Silva, I. (Isabel) dos, Du Bois, A. (Andreas), Dumont, M. (Martine), Dunning, A.M. (Alison), Duran, M. (Mercedes), Easton, D.F. (Douglas F.), Eccles, D. (Diana), Edwards, R. (Robert), Ehrencrona, H. (Hans), Ejlertsen, B. (Bent), Ekici, A.B. (Arif), Ellis, S.D. (Steve), Engel, C. (Christoph), Eriksson, M. (Mikael), Fasching, P.A. (Peter), Feliubadaló, L. (L.), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Fontaine, A. (Annette), Fortuzzi, S. (S.), Fostira, F. (Florentia), Fridley, B.L. (Brooke), Friebel, M.O.W. (Mark ), Friedman, E. (Eitan), Friel, G. (Grace), Frost, D. (Debra), Garber, J. (Judy), García-Closas, M. (Montserrat), Gayther, S.A. (Simon), Gentry-Maharaj, A. (Aleksandra), Gerdes, A-M. (Anne-Marie), Giles, G.G. (Graham), Glasspool, R. (Rosalind), Glendon, G. (Gord), Godwin, A.K. (Andrew K.), Goodman, M.T. (Marc T.), Gore, M. (Martin), Greene, M.H. (Mark H.), Grip, M. (Mervi), Gronwald, J. (Jacek), Gschwantler-Kaulich, D. (Daphne), Guénel, P. (Pascal), Guzman, S.R. (Starr R.), Haeberle, L. (Lothar), Haiman, C.A. (Christopher A.), Hall, P. (Per), Halverson, S.L. (Sandra L.), Hamann, U. (Ute), Hansen, T.V.O. (Thomas), Harter, P. (Philipp), Hartikainen, J.M. (J.), Healey, S. (Sue), Hein, R. (Rebecca), Heitz, P.U., Henderson, B.E. (Brian), Herzog, J. (Josef), Hildebrandt, M.A.T. (Michelle), Høgdall, C.K. (Claus), Høgdall, E. (Estrid), Hogervorst, F.B.L. (Frans), Hopper, J.L. (John), Humphreys, K. (Keith), Huzarski, T. (Tomasz), Imyanitov, E.N. (Evgeny N.), Isaacs, C. (Claudine), Jakubowska, A. (Anna), Janavicius, R. (Ramunas), Jaworska, K. (Katarzyna), Jensen, A. (Allan), Jensen, U.B., Johnson, N. (Nichola), Jukkola-Vuorinen, A. (Arja), Kabisch, M. (Maria), Karlan, B.Y. (Beth Y.), Kataja, V. (Vesa), Kauff, N. (Noah), Kelemen, L.E. (Linda), Kerin, M. (Michael), Kiemeney, L.A.L.M. (Bart), Kjaer, M. (Michael), Knight, J.A. (Julia), Knol-Bout, J.P. (Jacoba P.), Konstantopoulou, I. (I.), Kosma, V-M. (Veli-Matti), Krakstad, C. (Camilla), Kristensen, V. (Vessela), Kuchenbaecker, K.B. (Karoline), Kupryjanczyk, J. (Jolanta), Laitman, Y. (Yael), Lambrechts, D. (Diether), Lambrechts, S. (Sandrina), Larson, M.C. (Melissa), Lasa, A. (Adriana), Laurent-Puig, P. (Pierre), Lázaro, C. (Conxi), Le, N. (Nhu), Le Marchand, L. (Loic), Leminen, A. (Arto), Lester, K.J. (Kathryn), Levine, D.A. (Douglas), Li, J. (Jingmei), Liang, D. (Dong), Lindblom, A. (Annika), Lindor, N.M. (Noralane), Lissowska, J. (Jolanta), Long, J. (Jirong), Lu, K.H. (Karen), Lubinski, J. (Jan), Lundvall, L. (Lene), Lurie, G. (Galina), Mai, P.L. (Phuong), Mannermaa, A. (Arto), Margolin, S. (Sara), Mariette, F. (F.), Marme, F. (Federick), Martens, J.W.M. (John), Massuger, L.F. (Leon), Maugard, C., Mazoyer, S. (Sylvie), McGuffog, L. (Lesley), McGuire, W.P., McLean, C.A. (Catriona Ann), McNeish, I. (Iain), Meindl, A. (Alfons), Menegaux, F. (Florence), Menéndez, P. (Primitiva), Menkiszak, J. (Janusz), Menon, U. (Usha), Mensenkamp, A.R. (Arjen), Miller, N. (Nicola), Milne, R.L. (Roger), Modugno, F. (Francesmary), Montagna, M. (Marco), Moysich, K.B. (Kirsten B.), Müller, H. (Heiko), Mulligan, A.-M. (Anna-Marie), Muranen, T.A. (Taru), Narod, S.A. (Steven A.), Nathanson, K.L. (Katherine), Ness, R.B. (Roberta B.), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nielsen, F. (Finn), Nielsen, S.F. (Sune), Nordestgaard, B.G. (Børge), Nussbaum, R. (Robert), Odunsi, K. (Kunle), Offit, K. (Kenneth), Olah, E., Olopade, O.I. (Olufunmilayo I.), Olson, J.E. (Janet), Olson, S.H. (Sara), Oosterwijk, J.C. (Jan), Orlow, I. (Irene), Orr, N. (Nick), Orsulic, S. (Sandra), Osorio, A. (Ana), Ottini, L. (Laura), Paul, J. (James), Pearce, C.L. (Celeste), Pedersen, I.S. (Inge Sokilde), Peissel, B. (Bernard), Pejovic, T. (Tanja), Pelttari, L.M. (Liisa), Perkins, J. (Jo), Permuth-Wey, J. (Jenny), Peterlongo, P. (Paolo), Peto, J. (Julian), Phelan, C. (Catherine), Phillips, K.-A. (Kelly-Anne), Piedmonte, M. (Marion), Pike, M.C. (Malcolm C.), Platte, R. (Radka), Plisiecka-Halasa, J. (Joanna), Poole, E.M. (Elizabeth), Poppe, B. (Bruce), Pykäs, K. (Katri), Radice, P. (Paolo), Ramus, S.J. (Susan), Rebbeck, R. (Timothy), Reed, M.W.R. (Malcolm W.R.), Rennert, G. (Gad), Risch, H. (Harvey), Robson, M. (Mark), Rodriguez, G. (Gustavo), Romero, A. (Atocha), Rossing, M.A. (Mary Anne), Rothstein, J.H. (Joseph H.), Rudolph, A. (Anja), Runnebaum, I.B. (Ingo), Salani, R. (Ritu), Salvesen, H.B. (Helga), Sawyer, E.J. (Elinor), Schildkraut, J.M. (Joellen), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Schneeweiss, A. (Andreas), Schoemaker, M. (Minouk), Schrauder, A. (André), Schumacher, F.R. (Fredrick), Schwaab, I. (Ira), Scuvera, G. (Giulietta), Sellers, T.A. (Thomas A.), Severi, G. (Gianluca), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Shrubsole, M. (Martha), Siddiqui, N. (Nadeem), Sieh, W. (Weiva), Simard, J. (Jacques), Singer, C.F. (Christian), Sinilnikova, O. (Olga), Smeets, D. (Dominiek), Sohn, C. (Christof), Soller, M. (Maria), Song, H. (Honglin), Soucy, P. (Penny), Southey, M.C. (Melissa), Stegmaier, C. (Christa), Stoppa-Lyonnet, D. (Dominique), Sucheston, L. (Lara), Swerdlow, A.J. (Anthony ), Tangen, I.L. (Ingvild L.), Tea, M.-K., Teixeira, P.J., Terry, K.L. (Kathryn), Terry, M.B. (Mary Beth), Thomassen, M. (Mads), Thompson, P.J. (Pamela J.), Tihomirova, L. (Laima), Tischkowitz, M. (Marc), Toland, A.E. (Amanda), Tollenaar, R.A.E.M. (Rob), Tomlinson, I. (Ian), Torres, D. (Diana), Truong, T. (Thérèse), Tsimiklis, H. (Helen), Tung, N. (Nadine), Tworoger, S. (Shelley), Tyrer, J.P. (Jonathan), Vachon, C. (Celine), Veer, L.J. (Laura) van 't, Altena, A.M. (Anne) van, Asperen, C.J. (Christi) van, Van Den Berg, D. (David), Ouweland, A.M.W. (Ans) van den, Doorn, H.C. (Lena) van, Van Nieuwenhuysen, E. (Els), Rensburg, E.J. (Elizabeth) van, Vergote, I. (Ignace), Verhoef, S., Vierkant, R.A. (Robert), Vijai, J. (Joseph), Vitonis, A.F. (Allison), Wachenfeldt, A. (Anna) von, Walsh, C.S. (Christine), Wang, Q. (Qing), Wang-Gohrke, S. (Shan), Wapenschmidt, B. (Barbara), Weischer, M. (Maren), Weitzel, J.N. (Jeffrey), Weltens, C. (Caroline), Wentzensen, N. (N.), Whittemore, A.S. (Alice S.), Wilkens, L.R. (Lynne R.), Winqvist, R. (Robert), Wu, A.H. (Anna), Wu, X. (Xifeng), Yang, H.P. (Hannah P.), Zaffaroni, D. (Daniela), Zamora, M.P. (Pilar), Zheng, W. (Wei), Ziogas, A. (Argyrios), Chenevix-Trench, G. (Georgia), Pharoah, P.D.P. (Paul), Rookus, M.A. (Matti), Hooning, M.J. (Maartje), Goode, E.L. (Ellen L.), Breast Cancer Family Register, EMBRACE, GENICA Network, HEBON, SWE-BRCA, Hollestelle, A. (Antoinette), Baan, F.H. (Frederieke) van der, Berchuck, A. (Andrew), Johnatty, S.E. (Sharon), Aben, K.K.H. (Katja), Agnarsson, B.A. (Bjarni), Aittomäki, K. (Kristiina), Alducci, E. (Elisa), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Antonenkova, N.N. (Natalia), Antoniou, A.C. (Antonis), Apicella, C. (Carmel), Arndt, V. (Volker), Arnold, N. (Norbert), Arun, B.K. (Banu), Arver, B. (Brita Wasteson), Ashworth, A. (Alan), Baglietto, L. (Laura), Balleine, R. (Rosemary), Bandera, E.V. (Elisa), Barrowdale, D. (Daniel), Bean, Y.T. (Yukie), Beckmann, L. (Lars), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Berger, A. (Andreas), Berger, R. (Raanan), Beuselinck, B. (B.), Bisogna, M. (Maria), Bjorge, L. (Line), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Bojesen, A. (Anders), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet), Bonnani, B. (Bernardo), Brand, J.S. (Judith S.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brinton, L.A. (Louise), Brooks-Wilson, A. (Angela), Bruinsma, F. (Fiona), Brunet, J. (Joan), Brüning, T. (Thomas), Budzilowska, A. (Agnieszka), Bunker, C.H. (Clareann H.), Burwinkel, B. (Barbara), Butzow, R. (Ralf), Buys, S.S. (Saundra S.), Caligo, M.A. (Maria), Campbell, I. (Ian), Carter, J. (Jonathan), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen J.), Claes, K.B.M. (Kathleen B.M.), Collée, J.M. (Margriet), Cook, L.S. (Linda S.), Couch, F.J. (Fergus), Cox, A. (Angela), Cramer, D.W. (Daniel), Cross, S.S. (Simon), Cunningham, J.M. (Julie), Cybulski, C. (Cezary), Czene, K. (Kamila), Damiola, F. (Francesca), Dansonka-Mieszkowska, A. (Agnieszka), Darabi, H. (Hatef), Hoya, M. (Miguel) de La, DeFazio, A. (Anna), Dennis, J. (Joe), Devilee, P. (Peter), Dicks, E. (Ed), Díez, O. (Orland), Doherty, J.A. (Jennifer A.), Domchek, S.M. (Susan), Dorfling, C.M. (Cecilia), Dörk, T. (Thilo), Santos Silva, I. (Isabel) dos, Du Bois, A. (Andreas), Dumont, M. (Martine), Dunning, A.M. (Alison), Duran, M. (Mercedes), Easton, D.F. (Douglas F.), Eccles, D. (Diana), Edwards, R. (Robert), Ehrencrona, H. (Hans), Ejlertsen, B. (Bent), Ekici, A.B. (Arif), Ellis, S.D. (Steve), Engel, C. (Christoph), Eriksson, M. (Mikael), Fasching, P.A. (Peter), Feliubadaló, L. (L.), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Fontaine, A. (Annette), Fortuzzi, S. (S.), Fostira, F. (Florentia), Fridley, B.L. (Brooke), Friebel, M.O.W. (Mark ), Friedman, E. (Eitan), Friel, G. (Grace), Frost, D. (Debra), Garber, J. (Judy), García-Closas, M. (Montserrat), Gayther, S.A. (Simon), Gentry-Maharaj, A. (Aleksandra), Gerdes, A-M. (Anne-Marie), Giles, G.G. (Graham), Glasspool, R. (Rosalind), Glendon, G. (Gord), Godwin, A.K. (Andrew K.), Goodman, M.T. (Marc T.), Gore, M. (Martin), Greene, M.H. (Mark H.), Grip, M. (Mervi), Gronwald, J. (Jacek), Gschwantler-Kaulich, D. (Daphne), Guénel, P. (Pascal), Guzman, S.R. (Starr R.), Haeberle, L. (Lothar), Haiman, C.A. (Christopher A.), Hall, P. (Per), Halverson, S.L. (Sandra L.), Hamann, U. (Ute), Hansen, T.V.O. (Thomas), Harter, P. (Philipp), Hartikainen, J.M. (J.), Healey, S. (Sue), Hein, R. (Rebecca), Heitz, P.U., Henderson, B.E. (Brian), Herzog, J. (Josef), Hildebrandt, M.A.T. (Michelle), Høgdall, C.K. (Claus), Høgdall, E. (Estrid), Hogervorst, F.B.L. (Frans), Hopper, J.L. (John), Humphreys, K. (Keith), Huzarski, T. (Tomasz), Imyanitov, E.N. (Evgeny N.), Isaacs, C. (Claudine), Jakubowska, A. (Anna), Janavicius, R. (Ramunas), Jaworska, K. (Katarzyna), Jensen, A. (Allan), Jensen, U.B., Johnson, N. (Nichola), Jukkola-Vuorinen, A. (Arja), Kabisch, M. (Maria), Karlan, B.Y. (Beth Y.), Kataja, V. (Vesa), Kauff, N. (Noah), Kelemen, L.E. (Linda), Kerin, M. (Michael), Kiemeney, L.A.L.M. (Bart), Kjaer, M. (Michael), Knight, J.A. (Julia), Knol-Bout, J.P. (Jacoba P.), Konstantopoulou, I. (I.), Kosma, V-M. (Veli-Matti), Krakstad, C. (Camilla), Kristensen, V. (Vessela), Kuchenbaecker, K.B. (Karoline), Kupryjanczyk, J. (Jolanta), Laitman, Y. (Yael), Lambrechts, D. (Diether), Lambrechts, S. (Sandrina), Larson, M.C. (Melissa), Lasa, A. (Adriana), Laurent-Puig, P. (Pierre), Lázaro, C. (Conxi), Le, N. (Nhu), Le Marchand, L. (Loic), Leminen, A. (Arto), Lester, K.J. (Kathryn), Levine, D.A. (Douglas), Li, J. (Jingmei), Liang, D. (Dong), Lindblom, A. (Annika), Lindor, N.M. (Noralane), Lissowska, J. (Jolanta), Long, J. (Jirong), Lu, K.H. (Karen), Lubinski, J. (Jan), Lundvall, L. (Lene), Lurie, G. (Galina), Mai, P.L. (Phuong), Mannermaa, A. (Arto), Margolin, S. (Sara), Mariette, F. (F.), Marme, F. (Federick), Martens, J.W.M. (John), Massuger, L.F. (Leon), Maugard, C., Mazoyer, S. (Sylvie), McGuffog, L. (Lesley), McGuire, W.P., McLean, C.A. (Catriona Ann), McNeish, I. (Iain), Meindl, A. (Alfons), Menegaux, F. (Florence), Menéndez, P. (Primitiva), Menkiszak, J. (Janusz), Menon, U. (Usha), Mensenkamp, A.R. (Arjen), Miller, N. (Nicola), Milne, R.L. (Roger), Modugno, F. (Francesmary), Montagna, M. (Marco), Moysich, K.B. (Kirsten B.), Müller, H. (Heiko), Mulligan, A.-M. (Anna-Marie), Muranen, T.A. (Taru), Narod, S.A. (Steven A.), Nathanson, K.L. (Katherine), Ness, R.B. (Roberta B.), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nielsen, F. (Finn), Nielsen, S.F. (Sune), Nordestgaard, B.G. (Børge), Nussbaum, R. (Robert), Odunsi, K. (Kunle), Offit, K. (Kenneth), Olah, E., Olopade, O.I. (Olufunmilayo I.), Olson, J.E. (Janet), Olson, S.H. (Sara), Oosterwijk, J.C. (Jan), Orlow, I. (Irene), Orr, N. (Nick), Orsulic, S. (Sandra), Osorio, A. (Ana), Ottini, L. (Laura), Paul, J. (James), Pearce, C.L. (Celeste), Pedersen, I.S. (Inge Sokilde), Peissel, B. (Bernard), Pejovic, T. (Tanja), Pelttari, L.M. (Liisa), Perkins, J. (Jo), Permuth-Wey, J. (Jenny), Peterlongo, P. (Paolo), Peto, J. (Julian), Phelan, C. (Catherine), Phillips, K.-A. (Kelly-Anne), Piedmonte, M. (Marion), Pike, M.C. (Malcolm C.), Platte, R. (Radka), Plisiecka-Halasa, J. (Joanna), Poole, E.M. (Elizabeth), Poppe, B. (Bruce), Pykäs, K. (Katri), Radice, P. (Paolo), Ramus, S.J. (Susan), Rebbeck, R. (Timothy), Reed, M.W.R. (Malcolm W.R.), Rennert, G. (Gad), Risch, H. (Harvey), Robson, M. (Mark), Rodriguez, G. (Gustavo), Romero, A. (Atocha), Rossing, M.A. (Mary Anne), Rothstein, J.H. (Joseph H.), Rudolph, A. (Anja), Runnebaum, I.B. (Ingo), Salani, R. (Ritu), Salvesen, H.B. (Helga), Sawyer, E.J. (Elinor), Schildkraut, J.M. (Joellen), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Schneeweiss, A. (Andreas), Schoemaker, M. (Minouk), Schrauder, A. (André), Schumacher, F.R. (Fredrick), Schwaab, I. (Ira), Scuvera, G. (Giulietta), Sellers, T.A. (Thomas A.), Severi, G. (Gianluca), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Shrubsole, M. (Martha), Siddiqui, N. (Nadeem), Sieh, W. (Weiva), Simard, J. (Jacques), Singer, C.F. (Christian), Sinilnikova, O. (Olga), Smeets, D. (Dominiek), Sohn, C. (Christof), Soller, M. (Maria), Song, H. (Honglin), Soucy, P. (Penny), Southey, M.C. (Melissa), Stegmaier, C. (Christa), Stoppa-Lyonnet, D. (Dominique), Sucheston, L. (Lara), Swerdlow, A.J. (Anthony ), Tangen, I.L. (Ingvild L.), Tea, M.-K., Teixeira, P.J., Terry, K.L. (Kathryn), Terry, M.B. (Mary Beth), Thomassen, M. (Mads), Thompson, P.J. (Pamela J.), Tihomirova, L. (Laima), Tischkowitz, M. (Marc), Toland, A.E. (Amanda), Tollenaar, R.A.E.M. (Rob), Tomlinson, I. (Ian), Torres, D. (Diana), Truong, T. (Thérèse), Tsimiklis, H. (Helen), Tung, N. (Nadine), Tworoger, S. (Shelley), Tyrer, J.P. (Jonathan), Vachon, C. (Celine), Veer, L.J. (Laura) van 't, Altena, A.M. (Anne) van, Asperen, C.J. (Christi) van, Van Den Berg, D. (David), Ouweland, A.M.W. (Ans) van den, Doorn, H.C. (Lena) van, Van Nieuwenhuysen, E. (Els), Rensburg, E.J. (Elizabeth) van, Vergote, I. (Ignace), Verhoef, S., Vierkant, R.A. (Robert), Vijai, J. (Joseph), Vitonis, A.F. (Allison), Wachenfeldt, A. (Anna) von, Walsh, C.S. (Christine), Wang, Q. (Qing), Wang-Gohrke, S. (Shan), Wapenschmidt, B. (Barbara), Weischer, M. (Maren), Weitzel, J.N. (Jeffrey), Weltens, C. (Caroline), Wentzensen, N. (N.), Whittemore, A.S. (Alice S.), Wilkens, L.R. (Lynne R.), Winqvist, R. (Robert), Wu, A.H. (Anna), Wu, X. (Xifeng), Yang, H.P. (Hannah P.), Zaffaroni, D. (Daniela), Zamora, M.P. (Pilar), Zheng, W. (Wei), Ziogas, A. (Argyrios), Chenevix-Trench, G. (Georgia), Pharoah, P.D.P. (Paul), Rookus, M.A. (Matti), Hooning, M.J. (Maartje), Goode, E.L. (Ellen L.), Breast Cancer Family Register, EMBRACE, GENICA Network, HEBON, and SWE-BRCA

Abstract

Objective Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3′ UTR microRNA binding site, based on suggested associations with increased ovarian and br

Published
2016
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38. Methodische Aspekte der Nutzenbewertung am Beispiel des Dossiers A12-14: Axitinib bei Patienten mit fortgeschrittenem Nierenzellkarzinom

Author

Schiffner-Rohe, J and Beckmann, L

Subjects
ddc: 610, 610 Medical sciences, Medicine
Abstract

Axitinib ist zugelassen zur Behandlung von Patienten mit fortgeschrittenem Nierenzell-Karzinom, bei denen eine Therapie mit Sunitinib oder einem Zytokin erfolglos war. Die Nutzenbewertung erfolgte, abhängig von der Vortherapie der Patienten, für zwei verschiedene Patientenpopulationen mit [for full text, please go to the a.m. URL], GMDS 2013; 58. Jahrestagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie e.V. (GMDS)

Published
2013
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39. Positron emission tomography (PET) and PET/CT for staging non-small cell lung cancer (NSCLC) – a systematic review and meta-analysis of randomized controlled trials

Author

Müller, M, Scheibler, F, Schröer-Günther, M, Janßen, I, Beckmann, L, and Sauerland, S

Subjects
ddc: 610, 610 Medical sciences, Medicine, respiratory tract diseases
Abstract

Background: The accurate staging of non-small cell lung cancer (NSCLC) is important for the management of subsequent therapy especially for patients with higher stages of disease. Based on current medical guidelines, for patients who have distant metastases, thoracotomy would not be curative. Therefore[for full text, please go to the a.m. URL], Komplexe Interventionen – Entwicklung durch Austausch; 13. Jahrestagung des Deutschen Netzwerks Evidenzbasierte Medizin

Published
2012
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40. Deregulation and epigenetic modification of BCL2-family genes cause resistance to venetoclax in hematologic malignancies

Author

Thomalla, D., Beckmann, L., Grimm, C., Oliverio, M., Meder, L., Herling, C.D., Nieper, P., Feldmann, T., Merkel, O., Lorsy, E., da Palma Guerreiro, A., von Jan, J., Kisis, I., Wasserburger, E., Claasen, J., Faitschuk-Meyer, E., Altmüller, J., Nürnberg, P., Yang, T.-P., Lienhard, M., Herwig, R., Kreuzer, K.-A., Pallasch, C.P., Büttner, R., Schäfer, S.C., Hartley, J., Abken, H., Peifer, M., Kashkar, H., Knittel, G., Eichhorst, B., Ullrich, R.T., Herling, M., Reinhardt, H.C., Hallek, M., Schweiger, M.R., and Frenzel, L.P.

Abstract

The BCL2 inhibitor venetoclax has been approved to treat different hematological malignancies. Since there is no common genetic alteration causing resistance to venetoclax in CLL and B cell lymphoma, we asked if epigenetic events might be involved in venetoclax resistance. Therefore, we employed whole exome sequencing, methylated DNA immunoprecipitation sequencing and genome wide CRISPR/Cas9 screening to investigate venetoclax resistance in aggressive lymphoma and high-risk CLL patients. We identified a regulatory CpG island within the PUMApromoter which is methylated upon venetoclax treatment, mediating PUMAdownregulation on transcript and protein level. PUMAexpression and sensitivity towards venetoclax can be restored by inhibition of methyltransferases. We can demonstrate that loss of PUMA results in metabolic reprogramming with higher OXPHOS and ATP production, resembling the metabolic phenotype that is seen upon venetoclax resistance. While PUMA loss is specific for acquired venetoclax resistance but not for acquired MCL1 resistance and is not seen in CLL patients after chemotherapy-resistance, BAX is essential for sensitivity towards both venetoclax and MCL1 inhibition. As we found loss of BAX in Richter’s syndrome patients after venetoclax failure, we defined BAX-mediated apoptosis to be critical for drug resistance but not for disease progression of CLL into aggressive DLBCL in vivo. A compound screen revealed TRAIL-mediated apoptosis as a target to overcome BAX deficiency. Furthermore, antibody or CAR T cells eliminated venetoclax resistant lymphoma cells, paving a clinically applicable way to overcome venetoclax resistance.

Published
2024
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41. Comprehensive analysis of hormone and genetic variation in 36 genes related to steroid hormone metabolism in pre- and postmenopausal women from the breast and prostate cancer cohort consortium (BPC3)

Author

Beckmann, L., Hüsing, A., Setiawan, V. W., Amiano, P., Clavel-Chapelon, F., Chanock, S. J., Cox, D. G., Diver, R., Dossus, L., Feigelson, H. S., Haiman, C., Hallmans, G., Hayes, R. B., Henderson, B. E., Hoover, R. N., Hunter, D. J., Khaw, K., Kolonel, L. N., Kraft, P., Lund, E., Le Marchand, L., Peeters, P. H. M., Riboli, E., Stram, D., Thomas, G., Thun, M. J., Tumino, R., Trichopoulos, D., Vogel, U., Willett, W. C., Yeager, M., Ziegler, R., Hankinson, S. E., Kaaks, R., Renseigné, Non, Public Health Division of Gipuzkoa, Basque Government, CIBER en Salud Pública, CIBERSP, Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Gustave Roussy (IGR), Equipe 06, Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Public Health and Clinical Medicine, Nutritional Research, Umeå University, Division of Epidemiology, Public Health and Primary Care, Imperial College London, Laboratoire des Procédés en Milieux Granulaires (LPMG-EMSE), École des Mines de Saint-Étienne (Mines Saint-Étienne MSE), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Centre National de la Recherche Scientifique (CNRS)-École des Mines de Saint-Étienne (Mines Saint-Étienne MSE), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Centre National de la Recherche Scientifique (CNRS)-Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Civile - M.P.Arezzo Hospital, Department Cancer Epidemiology, and German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ)

Subjects
Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Clinical Biochemistry, MESH: Risk Assessment, Biochemistry, Body Mass Index, Cohort Studies, 0302 clinical medicine, Endocrinology, Sex hormone-binding globulin, MESH: Hormones, Ethnicity, polycyclic compounds, Hormone metabolism, Prospective cohort study, Gonadal Steroid Hormones, MESH: Cohort Studies, Testosterone, MESH: Genetic Association Studies, MESH: Gonadal Steroid Hormones, MESH: Aged, 0303 health sciences, MESH: Middle Aged, biology, MESH: Polymorphism, Single Nucleotide, Age Factors, MESH: Genetic Predisposition to Disease, Middle Aged, 3. Good health, Europe, Postmenopause, MESH: Premenopause, 030220 oncology & carcinogenesis, Cohort, Female, Steroids, MESH: Ethnic Groups, hormones, hormone substitutes, and hormone antagonists, MESH: Postmenopause, Cohort study, medicine.medical_specialty, endocrine system, Breast Neoplasms, [SDV.CAN]Life Sciences [q-bio]/Cancer, Polymorphism, Single Nucleotide, Risk Assessment, MESH: Body Mass Index, 03 medical and health sciences, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Alleles, Genetic Association Studies, 030304 developmental biology, Aged, MESH: Age Factors, MESH: Humans, MESH: Alleles, Biochemistry (medical), JCEM Online: Brief Reports, Hormones, MESH: Steroids, Steroid hormone, Premenopause, biology.protein, MESH: Europe, MESH: Female, Steroid hormone metabolism, MESH: Breast Neoplasms
Abstract

International audience; CONTEXT: Sex steroids play a central role in breast cancer development. OBJECTIVE: This study aimed to relate polymorphic variants in 36 candidate genes in the sex steroid pathway to serum concentrations of sex steroid hormones and SHBG. DESIGN: Data on 700 genetic polymorphisms were combined with existing hormone assays and data on breast cancer incidence, within the European Prospective Investigation into Cancer and Nutrition (EPIC) and the Nurses' Health Study (NHS) cohorts; significant findings were reanalyzed in the Multiethnic Cohort (MEC). SETTING AND PARTICIPANTS: We analyzed data from a pooled sample of 3852 pre- and postmenopausal Caucasian women from EPIC and NHS and 454 postmenopausal women from MEC. MAIN OUTCOME MEASURES: Outcome measures were SHBG, testosterone, dehydroepiandrosterone (DHEAS), androstenedione, estrone (E1), and estradiol (E2) as well as breast cancer risk. RESULTS: Globally significant associations were found among pre- and postmenopausal women combined between levels of SHBG and the SHBG gene and between DHEAS and the FSHR and AKR1C3 genes. Among postmenopausal women, serum E1 and E2 were significantly associated with the genes CYP19 and FSHR, and E1 was associated with ESR1. None of the variants related to serum hormone levels showed any significant association with breast cancer risk. CONCLUSIONS: We confirmed associations between serum levels of SHBG and the SHBG gene and of E1 and E2 and the CYP19 and ESR1 genes. Novel associations were observed between FSHR and DHEAS, E1, and E2 and between AKR1C3 and DHEAS.

Published
2011
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42. Informationsquellen und Vertrauen der Mütter/Eltern in der Beratung zur Beikosternährung

Author

Beckmann, L and Ayerle, GM

Subjects
ddc: 610, 610 Medical sciences, Medicine
Abstract

Hintergrund: Die aktuelle Empfehlung relevanter Fachorganisationen und Institutionen in Deutschland lautet, dass Beikost frühestens nach dem vollendeten vierten Lebensmonat und spätestens mit Beginn des siebten Lebensmonats eingeführt werden soll. Als Quelle der Information wird in de[for full text, please go to the a.m. URL], Wissenschaft – eine Säule der Hebammenarbeit; 1. Internationale Fachtagung der Deutschen Gesellschaft für Hebammenwissenschaft

Published
2011
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43. A genome-wide association study to identify genetic susceptibility loci that modify postmenopausal breast cancer risk associated with menopausal hormone therapy use – A four-stage design

Author

Hein, R, Flesch-Janys, D, Beckmann, L, Hall, P, Czene, K, Easton, DF, Dahmen, N, Mittelstraß, K, Illig, T, and Chang-Claude, J

Subjects
ddc: 610, 610 Medical sciences, Medicine
Abstract

Background: Menopausal hormone therapy (MHT) is associated with an elevated risk of breast cancer (BC) in postmenopausal women. Few candidate gene polymorphisms studies have examined whether BC risk after HT exposure varies by individual susceptibility. To identify novel genetic loci that modify BC [for full text, please go to the a.m. URL], Mainz//2011; 56. Jahrestagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie (gmds), 6. Jahrestagung der Deutschen Gesellschaft für Epidemiologie (DGEpi)

Published
2011
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44. Eltern werden - (k)ein Thema für Teenager?

Author

Beckmann, L, Michelmann, A, Fischer, BV, and Ayerle, GM

Subjects
ddc: 610, 610 Medical sciences, Medicine
Abstract

Theoretischer Hintergrund: Die Phase der Adoleszenz ist eine Zeit, in der die persönliche, sexuelle und berufliche Identität junger Menschen entwickelt wird. Die Wahrscheinlichkeit, in dieser prägenden Lebensphase schwanger zu werden, ist bei Hauptschülerinnen wesentlich höh[for full text, please go to the a.m. URL], Wissenschaft – eine Säule der Hebammenarbeit; 1. Internationale Fachtagung der Deutschen Gesellschaft für Hebammenwissenschaft

Published
2011
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45. Risikoberechnung für Brustkrebs differenziert nach Hormon-Rezeptor-Status unter Einbeziehung häufig auftretender disponierender genetischer Marker mit geringer Penetranz

Author

Hüsing, A, Beckmann, L, Canzian, F, Kaaks, R, and BPC3-Projekt

Subjects
Risikomodell Brustkrebs SNPs, ddc: 610, 610 Medical sciences, Medicine
Abstract

Einleitung: Ergebnisse von genomweiten Assoziationsstudien (GWAS) geben stetig neue Hinweise auf genetische Risikofaktoren für Brustkrebs. Dies ist zusammen mit sinkenden Genotypisierungskosten der Grund für wachsendes Interesse an der Vorhersagekraft solch genetischer Marker in Bezug auf [for full text, please go to the a.m. URL], Mainz//2011; 56. Jahrestagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie (gmds), 6. Jahrestagung der Deutschen Gesellschaft für Epidemiologie (DGEpi)

Published
2011
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46. Hypoxia-induced p38 MAPK activation reduces Mcl-1 expression and facilitates sensitivity towards BH3 mimetics in chronic lymphocytic leukemia

Author

Huelsemann, M. F., Patz, M., Beckmann, L., Brinkmann, K., Otto, T., Fandrey, J., Becker, H. J., Theurich, S., von Bergwelt-Baildon, M., Pallasch, C. P., Zahedi, R. P., Kashkar, H., Reinhardt, H. C., Hallek, M., Wendtner, C. M., Frenzel, L. P., Huelsemann, M. F., Patz, M., Beckmann, L., Brinkmann, K., Otto, T., Fandrey, J., Becker, H. J., Theurich, S., von Bergwelt-Baildon, M., Pallasch, C. P., Zahedi, R. P., Kashkar, H., Reinhardt, H. C., Hallek, M., Wendtner, C. M., and Frenzel, L. P.

Published
2015

48. Carsharing: A literature review and a perspective for information systems research

Author

Suhl, L, Kundisch, D, Beckmann, L, Degirmenci, Kenan, Breitner, Michael, Suhl, L, Kundisch, D, Beckmann, L, Degirmenci, Kenan, and Breitner, Michael

Abstract

Private car ownership in the context of the ongoing urbanization is creating challenges concerning environmental pollution, high energy costs, and limited and expensive parking. As a reaction to these negative impacts, companies are developing new mobility alternatives to private car ownership. One alternative is carsharing that provides individuals with cars from a fleet on an as-needed basis. To create a conceptual structuring of the topic of carsharing, we conduct a literature review identifying 93 articles and six concepts, i.e., market analysis, location, travel behavior, information systems, electric carsharing, and sustainability. Findings are discussed and implications for information systems research are given.

Published
2014

49. A Genome-wide Association Study of Early-Onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age

Author

Ahsan, H, Halpern, J, Kibriya, MG, Pierce, BL, Tong, L, Gamazon, E, McGuire, V, Felberg, A, Shi, J, Jasmine, F, Roy, S, Brutus, R, Argos, M, Melkonian, S, Chang-Claude, J, Andrulis, I, Hopper, JL, John, EM, Malone, K, Ursin, G, Gammon, MD, Thomas, DC, Seminara, D, Casey, G, Knight, JA, Southey, MC, Giles, GG, Santella, RM, Lee, E, Conti, D, Duggan, D, Gallinger, S, Haile, R, Jenkins, M, Lindor, NM, Newcomb, P, Michailidou, K, Apicella, C, Park, DJ, Peto, J, Fletcher, O, Silva, IDS, Lathrop, M, Hunter, DJ, Chanock, SJ, Meindl, A, Schmutzler, RK, Mueller-Myhsok, B, Lochmann, M, Beckmann, L, Hein, R, Makalic, E, Schmidt, DF, Quang, MB, Stone, J, Flesch-Janys, D, Dahmen, N, Nevanlinna, H, Aittomaki, K, Blomqvist, C, Hall, P, Czene, K, Irwanto, A, Liu, J, Rahman, N, Turnbull, C, Dunning, AM, Pharoah, P, Waisfisz, Q, Meijers-Heijboer, H, Uitterlinden, AG, Rivadeneira, F, Nicolae, D, Easton, DF, Cox, NJ, Whittemore, AS, Ahsan, H, Halpern, J, Kibriya, MG, Pierce, BL, Tong, L, Gamazon, E, McGuire, V, Felberg, A, Shi, J, Jasmine, F, Roy, S, Brutus, R, Argos, M, Melkonian, S, Chang-Claude, J, Andrulis, I, Hopper, JL, John, EM, Malone, K, Ursin, G, Gammon, MD, Thomas, DC, Seminara, D, Casey, G, Knight, JA, Southey, MC, Giles, GG, Santella, RM, Lee, E, Conti, D, Duggan, D, Gallinger, S, Haile, R, Jenkins, M, Lindor, NM, Newcomb, P, Michailidou, K, Apicella, C, Park, DJ, Peto, J, Fletcher, O, Silva, IDS, Lathrop, M, Hunter, DJ, Chanock, SJ, Meindl, A, Schmutzler, RK, Mueller-Myhsok, B, Lochmann, M, Beckmann, L, Hein, R, Makalic, E, Schmidt, DF, Quang, MB, Stone, J, Flesch-Janys, D, Dahmen, N, Nevanlinna, H, Aittomaki, K, Blomqvist, C, Hall, P, Czene, K, Irwanto, A, Liu, J, Rahman, N, Turnbull, C, Dunning, AM, Pharoah, P, Waisfisz, Q, Meijers-Heijboer, H, Uitterlinden, AG, Rivadeneira, F, Nicolae, D, Easton, DF, Cox, NJ, and Whittemore, AS

Abstract

Early-onset breast cancer (EOBC) causes substantial loss of life and productivity, creating a major burden among women worldwide. We analyzed 1,265,548 Hapmap3 single-nucleotide polymorphisms (SNP) among a discovery set of 3,523 EOBC incident cases and 2,702 population control women ages ≤ 51 years. The SNPs with smallest P values were examined in a replication set of 3,470 EOBC cases and 5,475 control women. We also tested EOBC association with 19,684 genes by annotating each gene with putative functional SNPs, and then combining their P values to obtain a gene-based P value. We examined the gene with smallest P value for replication in 1,145 breast cancer cases and 1,142 control women. The combined discovery and replication sets identified 72 new SNPs associated with EOBC (P < 4 × 10(-8)) located in six genomic regions previously reported to contain SNPs associated largely with later-onset breast cancer (LOBC). SNP rs2229882 and 10 other SNPs on chromosome 5q11.2 remained associated (P < 6 × 10(-4)) after adjustment for the strongest published SNPs in the region. Thirty-two of the 82 currently known LOBC SNPs were associated with EOBC (P < 0.05). Low power is likely responsible for the remaining 50 unassociated known LOBC SNPs. The gene-based analysis identified an association between breast cancer and the phosphofructokinase-muscle (PFKM) gene on chromosome 12q13.11 that met the genome-wide gene-based threshold of 2.5 × 10(-6). In conclusion, EOBC and LOBC seem to have similar genetic etiologies; the 5q11.2 region may contain multiple distinct breast cancer loci; and the PFKM gene region is worthy of further investigation. These findings should enhance our understanding of the etiology of breast cancer.

Published
2014

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