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2,337 results on '"Engel C."'

1. Estimating the prevalence of mental disorders in patients with newly diagnosed cancer in relation to socioeconomic status: a multicenter prospective observational study

Author: Goerling, U., Ernst, J., Esser, P., Haering, C., Hermann, M., Hornemann, B., Hövel, P., Keilholz, U., Kissane, D., von dem Knesebeck, O., Lordick, F., Springer, F., Zingler, H., Zimmermann, T., Engel, C., and Mehnert-Theuerkauf, A.
Published: 2024
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2. The geometry of the magnetic field in the Central Molecular Zone measured by PILOT

Author: Mangilli, A., Aumont, J., Bernard, J. -Ph., Buzzelli, A., de Gasperis, G., Durrive, J. B., Ferrière, K., Foënard, G., Hughes, A., Lacourt, A., Misawa, R., Montier, L., Mot, B., Ristorcelli, I., Roussel, H., Ade, P., Alina, D., de Bernardis, P., Pino, E. de Gouveia Dal, Dubois, J. P., Engel, C., Hargrave, P., Laureijs, R., Longval, Y., Maffei, B., Magalhães, A. M., Marty, C., Masi, S., Montel, J., Pajot, F., Rodriguez, L., Salatino, M., Saccoccio, M., Stever, S., Tauber, J., Tibbs, C., and Tucker, C.
Subjects: Astrophysics - Astrophysics of Galaxies
Abstract: We present the first far infrared (FIR) dust emission polarization map covering the full extent Milky Way's Central molecular zone (CMZ). The data, obtained with the PILOT balloon-borne experiment, covers the Galactic Center region $-2\,^\circ
Published: 2019
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3. PILOT balloon-borne experiment in-flight performance

Author: Mangilli, A., Foënard, G., Aumont, J., Hughes, A., Mot, B., Bernard, J-Ph., Lacourt, A., Ristorcelli, I., Longval, Y., Ade, P., André, Y., Bautista, L., deBernardis, P., Boulade, O., Bousqet, F., Bouzit, M., Buttice, V., Charra, M., Crane, B., Doumayrou, E., Dubois, J. P., Engel, C., Griffin, M., Grabarnik, S., Hargrave, P., Laureijs, R., Leriche, B., Maestre, S., Maffei, B., Marty, C., Marty, W., Masi, S., Misawa, R., Montel, J., Montier, L., Narbonne, J., Pajot, F., Pérot, E., Pimentao, J., Pisano, G., Ponthieu, N., Rodriguez, L., Roudil, G., Salatino, M., Savini, G., Simonella, O., Saccoccio, M., Stever, S., Tauber, J., Tibbs, C., and Tucker, C.
Subjects: Astrophysics - Instrumentation and Methods for Astrophysics
Abstract: The Polarized Instrument for Long-wavelength Observation of the Tenuous interstellar medium (PILOT) is a balloon-borne experiment aiming at measuring the polarized emission of thermal dust at a wavelength of 240 mm (1.2 THz). A first PILOT flight (flight#1) of the experiment took place from Timmins, Ontario, Canada, in September 2015 and a second flight (flight#2) took place from Alice Springs, Australia in april 2017. In this paper, we present the inflight performance of the instrument during these two flights. We concentrate on performances during flight#2, but allude to flight#1 performances if significantly different. We first present a short description of the instrument and the flights. We determine the time constants of our detectors combining inflight information from the signal decay following high energy particle impacts (glitches) and of our internal calibration source. We use these time constants to deconvolve the data timelines and analyse the optical quality of the instrument as measured on planets. We then analyse the structure and polarization of the instrumental background. We measure the detector response flat field and its time variations using the signal from the residual atmosphere and of our internal calibration source. Finally, we analyze the detector noise spectral and temporal properties. The in-flight performances are found to be satisfactory and globally in line with expectations from ground calibrations. We conclude by assessing the expected in-flight sensitivity of the instrument in light of the above in-flight performances.
Published: 2018

4. Predictors of cardiopulmonary fitness in cancer-affected and -unaffected women with a pathogenic germline variant in the genes BRCA1/2 (LIBRE-1)

Author: Berling-Ernst, A., Yahiaoui-Doktor, M., Kiechle, M., Engel, C., Lammert, J., Grill, S., Dukatz, R., Rhiem, K., Baumann, F. T., Bischoff, S. C., Erickson, N., Schmidt, T., Niederberger, U., Siniatchkin, M., and Halle, M.
Published: 2022
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5. Understanding the environmentally assisted cracking (EAC) initiation and propagation of new generation 7xxx alloys using slow strain rate testing

Author: Aboura, Y., Garner, A.J., Euesden, R., Barrett, Z., Engel, C., Holroyd, N.J.H., Prangnell, P.B., and Burnett, T.L.
Published: 2022
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6. Cryo-EM structure of Pyrococcus furiosus apo form RNA polymerase contracted clamp conformation with Spt4/5

Author: Tarau, D.M., primary, Reichelt, R., additional, Heiss, F.B., additional, Pilsl, M., additional, Hausner, W., additional, Engel, C., additional, and Grohmann, D., additional
Published: 2024
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7. Kann künstliche Intelligenz bei der Unterscheidung zwischen physiologischen und pathologischen Stimmklängen unterstützen?

Author: Gänzle, M, Keller, J, Schneider, D, Engel, C, Fuchs, M, Gänzle, M, Keller, J, Schneider, D, Engel, C, and Fuchs, M
Abstract: Hintergrund: Diese Studie untersucht, inwieweit künstliche Intelligenz mittels maschinellen Lernens in der klinischen Diagnostik bei der Zuordnung gesunder und pathologischer Stimmschallsignale unterstützen kann. Ziel war es, durch automatische Mustererkennung im Stimmschallsignal Messgrößen zur Unterscheidung und Stratifizierung von gesunden und pathologischen Stimmschallsignalen zu gewinnen.Material und Methoden: Als Untersuchungsmaterial dienten Stimmschallsignale der Sprechstimme mit mehrsilbigen Zahlwörtern in verschiedenen Steigerungsstufen von 2.000 Personen (ab 18. Lbj., normalverteilte Bevölkerungskohorte) aus der LIFE-Studie und 216 Patient:innen (19-101 Jahre, Median 61; 108:108 m:w) mit Dysphonien zehn verschiedener Genesen. Alle Zahlwörter wurden in Mel-Frequenz-Cepstrum-Koeffizienten umgewandelt. Anschließend war es Aufgabe der KI, zwischen gesunden und pathologischen Stimmschallsignalen zu unterscheiden. Es wurden zwei unabhängige Methoden untersucht. In Methode 1 rekonstruierte ein unüberwachtes Modell (Autoencoder) gesunde Stimmschallaufnahmen über einen Informationsengpass. Der Rekonstruktionsfehler ermöglichte eine Einteilung nach ihrem Abweichungsgrad von gesunden Stimmschallsignalen. In Methode 2 lernte ein überwachtes Modell (Morse-Netz) im Kreuzvalidierungsverfahren eine Transformation der Stimmschallaufnahmen auf ein vorher definiertes Intervall und so die Unterscheidung verschiedener Krankheitsbilder. Mittels Bestimmung der AUROC wurde die Diskriminierungsfähigkeit bestimmt und gezeigt, wie gut das Modell zwischen positiven und negativen Fällen unterscheiden kann.Ergebnisse: Methode 1 erreichte eine AUROC von 0,98 und Methode 2 eine AUROC von 0,99. Damit wurde eine sehr hohe Diskriminierungsfähigkeit der KI gezeigt. Die Ordnung verschiedener Krankheitsbilder auf der Messskala von Methode 2 korrelierte stark mit der vorher trainierten Diagnose.Diskussion: Bisherige Studien konnten mittels KI den Schweregrad einer bekannten Dysphonie richtig e
Published: 2024

8. Depressive Symptomatik und Angstsymptome bei Patient:innen mit Post-COVID-Syndrom: Spielt soziale Eingebundenheit eine Rolle? Eine Sekundäranalyse einer Deutschen Post-COVID-Studie

Author: Gerhards, S, Luppa, M, Zülke, A, Wirkner, K, Reusche, M, Sander, C, Büchner, R, Schomerus, G, Zeynalova, S, Löffler, M, Engel, C, Riedel-Heller, SG, Gerhards, S, Luppa, M, Zülke, A, Wirkner, K, Reusche, M, Sander, C, Büchner, R, Schomerus, G, Zeynalova, S, Löffler, M, Engel, C, and Riedel-Heller, SG
Published: 2024

9. Attentional bias, craving and cannabis use in an inpatient sample of adolescents and young adults diagnosed with cannabis use disorder: The moderating role of cognitive control

Author: Van Kampen, A. Dunkerbeck, Cousijn, J., Engel, C., Rinck, M., and Dijkstra, B.A.G.
Published: 2020
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10. Process Innovations for Future Technology Nodes with Back-Side Power Delivery and 3D Device Stacking

Author: Kobrinsky, M., primary, Silva, J. D, additional, Mannebach, E., additional, Mills, S., additional, El Qader, M. Abd, additional, Adebayo, O., additional, Radhakrishna, N. Arkali, additional, Beasley, M., additional, Chawla, J., additional, Chugh, S., additional, Clinton, E., additional, Dasgupta, A., additional, Desai, U., additional, De Re, E., additional, Dewey, G., additional, Edwards, T., additional, Engel, C., additional, Galatage, R., additional, Ghani, T., additional, Gudmundsson, V., additional, Hibbeler, L., additional, Hicks, J., additional, Krist, B., additional, Mehandru, R., additional, Meric, I., additional, Morrow, P., additional, Nandi, D., additional, Pantuso, D., additional, Patel, P., additional, Pawashe, C., additional, Radosavljevic, M., additional, Ramamurthy, R., additional, Samanta, D., additional, Cekli, S., additional, Shoer, L., additional, Amour, A. St, additional, Tan, L. H., additional, Yemenicioglu, S., additional, Wang, X., additional, and Wiedemer, J. A., additional
Published: 2023
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11. PILOT: a balloon-borne experiment to measure the polarized FIR emission of dust grains in the interstellar medium

Author: Misawa, R., Bernard, J-Ph., Ade, P., Andre, Y., deBernardis, P., Bouzit, M., Charra, M., Crane, B., Dubois, J. P., Engel, C., Griffin, M., Hargrave, P., Leriche, B., Longval, Y., Maes, S., Marty, C., Marty, W., Masi, S., Mot, B., Narbonne, J., Pajot, F., Pisano, G., Ponthieu, N., Ristorcelli, I., Rodriguez, L., Roudil, G., Salatino, M., Savini, G., and Tucker, C.
Subjects: Astrophysics - Instrumentation and Methods for Astrophysics, Physics - Optics
Abstract: Future cosmology space missions will concentrate on measuring the polarization of the Cosmic Microwave Background, which potentially carries invaluable information about the earliest phases of the evolution of our universe. Such ambitious projects will ultimately be limited by the sensitivity of the instrument and by the accuracy at which polarized foreground emission from our own Galaxy can be subtracted out. We present the PILOT balloon project which will aim at characterizing one of these foreground sources, the polarization of the dust continuum emission in the diffuse interstellar medium. The PILOT experiment will also constitute a test-bed for using multiplexed bolometer arrays for polarization measurements. We present the results of ground tests obtained just before the first flight of the instrument., Comment: 17 pages, 13 figures. Presented at SPIE, Millimeter, Submillimeter, and Far-Infrared Detectors and Instrumentation for Astronomy VII. To be published in Proc. SPIE volume 9153
Published: 2014
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12. Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement

Author: Moller, P, Seppala, T, Ahadova, A, Crosbie, E, Holinski-Feder, E, Scott, R, Haupt, S, Moslein, G, Winship, I, Broeke, S, Kohut, K, Ryan, N, Bauerfeind, P, Thomas, L, Evans, D, Aretz, S, Sijmons, R, Half, E, Heinimann, K, Horisberger, K, Monahan, K, Engel, C, Cavestro, G, Fruscio, R, Abu-Freha, N, Zohar, L, Laghi, L, Bertario, L, Bonanni, B, Tibiletti, M, Lino-Silva, L, Vaccaro, C, Valle, A, Rossi, B, da Silva, L, de Oliveira Nascimento, I, Rossi, N, Debniak, T, Mecklin, J, Bernstein, I, Lindblom, A, Sunde, L, Nakken, S, Heuveline, V, Burn, J, Hovig, E, Kloor, M, Sampson, J, Dominguez-Valentin, M, Moller P., Seppala T. T., Ahadova A., Crosbie E. J., Holinski-Feder E., Scott R., Haupt S., Moslein G., Winship I., Broeke S. W. B. -T., Kohut K. E., Ryan N., Bauerfeind P., Thomas L. E., Evans D. G., Aretz S., Sijmons R. H., Half E., Heinimann K., Horisberger K., Monahan K., Engel C., Cavestro G. M., Fruscio R., Abu-Freha N., Zohar L., Laghi L., Bertario L., Bonanni B., Tibiletti M. G., Lino-Silva L. S., Vaccaro C., Valle A. D., Rossi B. M., da Silva L. A., de Oliveira Nascimento I. L., Rossi N. T., Debniak T., Mecklin J. -P., Bernstein I., Lindblom A., Sunde L., Nakken S., Heuveline V., Burn J., Hovig E., Kloor M., Sampson J. R., Dominguez-Valentin M., Moller, P, Seppala, T, Ahadova, A, Crosbie, E, Holinski-Feder, E, Scott, R, Haupt, S, Moslein, G, Winship, I, Broeke, S, Kohut, K, Ryan, N, Bauerfeind, P, Thomas, L, Evans, D, Aretz, S, Sijmons, R, Half, E, Heinimann, K, Horisberger, K, Monahan, K, Engel, C, Cavestro, G, Fruscio, R, Abu-Freha, N, Zohar, L, Laghi, L, Bertario, L, Bonanni, B, Tibiletti, M, Lino-Silva, L, Vaccaro, C, Valle, A, Rossi, B, da Silva, L, de Oliveira Nascimento, I, Rossi, N, Debniak, T, Mecklin, J, Bernstein, I, Lindblom, A, Sunde, L, Nakken, S, Heuveline, V, Burn, J, Hovig, E, Kloor, M, Sampson, J, Dominguez-Valentin, M, Moller P., Seppala T. T., Ahadova A., Crosbie E. J., Holinski-Feder E., Scott R., Haupt S., Moslein G., Winship I., Broeke S. W. B. -T., Kohut K. E., Ryan N., Bauerfeind P., Thomas L. E., Evans D. G., Aretz S., Sijmons R. H., Half E., Heinimann K., Horisberger K., Monahan K., Engel C., Cavestro G. M., Fruscio R., Abu-Freha N., Zohar L., Laghi L., Bertario L., Bonanni B., Tibiletti M. G., Lino-Silva L. S., Vaccaro C., Valle A. D., Rossi B. M., da Silva L. A., de Oliveira Nascimento I. L., Rossi N. T., Debniak T., Mecklin J. -P., Bernstein I., Lindblom A., Sunde L., Nakken S., Heuveline V., Burn J., Hovig E., Kloor M., Sampson J. R., and Dominguez-Valentin M.
Abstract: The recognition of dominantly inherited micro-satellite instable (MSI) cancers caused by pathogenic variants in one of the four mismatch repair (MMR) genes MSH2, MLH1, MSH6 and PMS2 has modified our understanding of carcinogenesis. Inherited loss of function variants in each of these MMR genes cause four dominantly inherited cancer syndromes with different penetrance and expressivities: the four Lynch syndromes. No person has an “average sex “or a pathogenic variant in an “average Lynch syndrome gene” and results that are not stratified by gene and sex will be valid for no one. Carcinogenesis may be a linear process from increased cellular division to localized cancer to metastasis. In addition, in the Lynch syndromes (LS) we now recognize a dynamic balance between two stochastic processes: MSI producing abnormal cells, and the host’s adaptive immune system’s ability to remove them. The latter may explain why colonoscopy surveillance does not reduce the incidence of colorectal cancer in LS, while it may improve the prognosis. Most early onset colon, endometrial and ovarian cancers in LS are now cured and most cancer related deaths are after subsequent cancers in other organs. Aspirin reduces the incidence of colorectal and other cancers in LS. Immunotherapy increases the host immune system’s capability to destroy MSI cancers. Colonoscopy surveillance, aspirin prevention and immunotherapy represent major steps forward in personalized precision medicine to prevent and cure inherited MSI cancer.
Published: 2023

13. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

Author: Dominguez-Valentin, M, Haupt, S, Seppälä, T, Sampson, J, Sunde, L, Bernstein, I, Jenkins, M, Engel, C, Aretz, S, Nielsen, M, Capella, G, Balaguer, F, Evans, D, Burn, J, Holinski-Feder, E, Bertario, L, Bonanni, B, Lindblom, A, Levi, Z, Macrae, F, Winship, I, Plazzer, J, Sijmons, R, Laghi, L, Della Valle, A, Heinimann, K, Dębniak, T, Fruscio, R, Lopez-Koestner, F, Alvarez-Valenzuela, K, Katz, L, Laish, I, Vainer, E, Vaccaro, C, Carraro, D, Monahan, K, Half, E, Stakelum, A, Winter, D, Kennelly, R, Gluck, N, Sheth, H, Abu-Freha, N, Greenblatt, M, Rossi, B, Bohorquez, M, Cavestro, G, Lino-Silva, L, Horisberger, K, Tibiletti, M, Nascimento, I, Thomas, H, Rossi, N, Apolinário da Silva, L, Zaránd, A, Ruiz-Bañobre, J, Heuveline, V, Mecklin, J, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Peltomäki, P, Therkildsen, C, Madsen, M, Burgdorf, S, Hopper, J, Win, A, Haile, R, Lindor, N, Gallinger, S, Le Marchand, L, Newcomb, P, Figueiredo, J, Buchanan, D, Thibodeau, S, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Schröck, E, Steinke-Lange, V, Schmiegel, W, Vangala, D, Perne, C, Hüneburg, R, Redler, S, Büttner, R, Weitz, J, Pineda, M, Duenas, N, Vidal, J, Moreira, L, Sánchez, A, Hovig, E, Nakken, S, Green, K, Lalloo, F, Hill, J, Crosbie, E, Mints, M, Goldberg, Y, Dominguez-Valentin M., Haupt S., Seppälä T. T., Sampson J. R., Sunde L., Bernstein I., Jenkins M. A., Engel C., Aretz S., Nielsen M., Capella G., Balaguer F., Evans D. G., Burn J., Holinski-Feder E., Bertario L., Bonanni B., Lindblom A., Levi Z., Macrae F., Winship I., Plazzer J. P., Sijmons R., Laghi L., Della Valle A., Heinimann K., Dębniak T., Fruscio R., Lopez-Koestner F., Alvarez-Valenzuela K., Katz L. H., Laish I., Vainer E., Vaccaro C., Carraro D. M., Monahan K., Half E., Stakelum A., Winter D., Kennelly R., Gluck N., Sheth H., Abu-Freha N., Greenblatt M., Rossi B. M., Bohorquez M., Cavestro G. M., Lino-Silva L. S., Horisberger K., Tibiletti M. G., Nascimento I. d., Thomas H., Rossi N. T., Apolinário da Silva L., Zaránd A., Ruiz-Bañobre J., Heuveline V., Mecklin J. P., Pylvänäinen K., Renkonen-Sinisalo L., Lepistö A., Peltomäki P., Therkildsen C., Madsen M. G., Burgdorf S. K., Hopper J. L., Win A. K., Haile R. W., Lindor N., Gallinger S., Le Marchand L., Newcomb P. A., Figueiredo J., Buchanan D. D., Thibodeau S. N., von Knebel Doeberitz M., Loeffler M., Rahner N., Schröck E., Steinke-Lange V., Schmiegel W., Vangala D., Perne C., Hüneburg R., Redler S., Büttner R., Weitz J., Pineda M., Duenas N., Vidal J. B., Moreira L., Sánchez A., Hovig E., Nakken S., Green K., Lalloo F., Hill J., Crosbie E., Mints M., Goldberg Y., Dominguez-Valentin, M, Haupt, S, Seppälä, T, Sampson, J, Sunde, L, Bernstein, I, Jenkins, M, Engel, C, Aretz, S, Nielsen, M, Capella, G, Balaguer, F, Evans, D, Burn, J, Holinski-Feder, E, Bertario, L, Bonanni, B, Lindblom, A, Levi, Z, Macrae, F, Winship, I, Plazzer, J, Sijmons, R, Laghi, L, Della Valle, A, Heinimann, K, Dębniak, T, Fruscio, R, Lopez-Koestner, F, Alvarez-Valenzuela, K, Katz, L, Laish, I, Vainer, E, Vaccaro, C, Carraro, D, Monahan, K, Half, E, Stakelum, A, Winter, D, Kennelly, R, Gluck, N, Sheth, H, Abu-Freha, N, Greenblatt, M, Rossi, B, Bohorquez, M, Cavestro, G, Lino-Silva, L, Horisberger, K, Tibiletti, M, Nascimento, I, Thomas, H, Rossi, N, Apolinário da Silva, L, Zaránd, A, Ruiz-Bañobre, J, Heuveline, V, Mecklin, J, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Peltomäki, P, Therkildsen, C, Madsen, M, Burgdorf, S, Hopper, J, Win, A, Haile, R, Lindor, N, Gallinger, S, Le Marchand, L, Newcomb, P, Figueiredo, J, Buchanan, D, Thibodeau, S, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Schröck, E, Steinke-Lange, V, Schmiegel, W, Vangala, D, Perne, C, Hüneburg, R, Redler, S, Büttner, R, Weitz, J, Pineda, M, Duenas, N, Vidal, J, Moreira, L, Sánchez, A, Hovig, E, Nakken, S, Green, K, Lalloo, F, Hill, J, Crosbie, E, Mints, M, Goldberg, Y, Dominguez-Valentin M., Haupt S., Seppälä T. T., Sampson J. R., Sunde L., Bernstein I., Jenkins M. A., Engel C., Aretz S., Nielsen M., Capella G., Balaguer F., Evans D. G., Burn J., Holinski-Feder E., Bertario L., Bonanni B., Lindblom A., Levi Z., Macrae F., Winship I., Plazzer J. P., Sijmons R., Laghi L., Della Valle A., Heinimann K., Dębniak T., Fruscio R., Lopez-Koestner F., Alvarez-Valenzuela K., Katz L. H., Laish I., Vainer E., Vaccaro C., Carraro D. M., Monahan K., Half E., Stakelum A., Winter D., Kennelly R., Gluck N., Sheth H., Abu-Freha N., Greenblatt M., Rossi B. M., Bohorquez M., Cavestro G. M., Lino-Silva L. S., Horisberger K., Tibiletti M. G., Nascimento I. d., Thomas H., Rossi N. T., Apolinário da Silva L., Zaránd A., Ruiz-Bañobre J., Heuveline V., Mecklin J. P., Pylvänäinen K., Renkonen-Sinisalo L., Lepistö A., Peltomäki P., Therkildsen C., Madsen M. G., Burgdorf S. K., Hopper J. L., Win A. K., Haile R. W., Lindor N., Gallinger S., Le Marchand L., Newcomb P. A., Figueiredo J., Buchanan D. D., Thibodeau S. N., von Knebel Doeberitz M., Loeffler M., Rahner N., Schröck E., Steinke-Lange V., Schmiegel W., Vangala D., Perne C., Hüneburg R., Redler S., Büttner R., Weitz J., Pineda M., Duenas N., Vidal J. B., Moreira L., Sánchez A., Hovig E., Nakken S., Green K., Lalloo F., Hill J., Crosbie E., Mints M., and Goldberg Y.
Abstract: Background: The Prospective Lynch Syndrome Database (PLSD) collates information on carriers of pathogenic or likely pathogenic MMR variants (path_MMR) who are receiving medical follow-up, including colonoscopy surveillance, which aims to the achieve early diagnosis and treatment of cancers. Here we use the most recent PLSD cohort that is larger and has wider geographical representation than previous versions, allowing us to present mortality as an outcome, and median ages at cancer diagnoses for the first time. Methods: The PLSD is a prospective observational study without a control group that was designed in 2012 and updated up to October 2022. Data for 8500 carriers of path_MMR variants from 25 countries were included, providing 71,713 years of follow up. Cumulative cancer incidences at 65 years of age were combined with 10-year crude survival following cancer, to derive estimates of mortality up to 75 years of age by organ, gene, and gender. Findings: Gynaecological cancers were more frequent than colorectal cancers in path_MSH2, path_MSH6 and path_PMS2 carriers [cumulative incidence: 53.3%, 49.6% and 23.3% at 75 years, respectively]. Endometrial, colon and ovarian cancer had low mortality [8%, 13% and 15%, respectively] and prostate cancers were frequent in male path_MSH2 carriers [cumulative incidence: 39.7% at 75 years]. Pancreatic, brain, biliary tract and ureter and kidney and urinary bladder cancers were associated with high mortality [83%, 66%, 58%, 27%, and 29%, respectively]. Among path_MMR carriers undergoing colonoscopy surveillance, particularly path_MSH2 carriers, more deaths followed non-colorectal Lynch syndrome cancers than colorectal cancers. Interpretation: In path_MMR carriers undergoing colonoscopy surveillance, non-colorectal Lynch syndrome cancers were associated with more deaths than were colorectal cancers. Reducing deaths from non-colorectal cancers presents a key challenge in contemporary medical care in Lynch syndrome. Funding: We ackno
Published: 2023

14. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Author: Blein, S, Bardel, C, Danjean, V, McGuffog, L, Healey, S, Barrowdale, D, Lee, A, Dennis, J, Kuchenbaecker, KB, Soucy, P, Terry, MB, Chung, WK, Goldgar, DE, Buys, SS, Janavicius, R, Tihomirova, L, Tung, N, Dorfling, CM, van Rensburg, EJ, Neuhausen, SL, Ding, YC, Gerdes, AM, Ejlertsen, B, Nielsen, FC, Hansen, TVO, Osorio, A, Benitez, J, Conejero, RA, Segota, E, Weitzel, JN, Thelander, M, Peterlongo, P, Radice, P, Pensotti, V, Dolcetti, R, Bonanni, B, Peissel, B, Zaffaroni, D, Scuvera, G, Manoukian, S, Varesco, L, Capone, GL, Papi, L, Ottini, L, Yannoukakos, D, Konstantopoulou, I, Garber, J, Hamann, U, Donaldson, A, Brady, A, Brewer, C, Foo, C, Evans, DG, Frost, D, Eccles, D, Douglas, F, Cook, J, Adlard, J, Barwell, J, Walker, L, Izatt, L, Side, LE, Kennedy, MJ, Tischkowitz, M, Rogers, MT, Porteous, ME, Morrison, PJ, Platte, R, Eeles, R, Davidson, R, Hodgson, S, Cole, T, Godwin, AK, Isaacs, C, Claes, K, De Leeneer, K, Meindl, A, Gehrig, A, Wappenschmidt, B, Sutter, C, Engel, C, Niederacher, D, Steinemann, D, Plendl, H, Kast, K, Rhiem, K, Ditsch, N, Arnold, N, Varon-Mateeva, R, Schmutzler, RK, Preisler-Adams, S, Markov, NB, Wang-Gohrke, S, de Pauw, A, Lefol, C, Lasset, C, Leroux, D, Rouleau, E, Damiola, F, and Dreyfus, H
Subjects: Oncology & Carcinogenesis, Oncology and Carcinogenesis
Abstract: Introduction: Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. Mitochondrial genome variations affect electron transport chain efficiency and reactive oxygen species production. Individuals with different mitochondrial haplogroups differ in their metabolism and sensitivity to oxidative stress. Variability in mitochondrial genetic background can alter reactive oxygen species production, leading to cancer risk. In the present study, we tested the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers. Methods: We genotyped 22,214 (11,421 affected, 10,793 unaffected) mutation carriers belonging to the Consortium of Investigators of Modifiers of BRCA1/2 for 129 mitochondrial polymorphisms using the iCOGS array. Haplogroup inference and association detection were performed using a phylogenetic approach. ALTree was applied to explore the reference mitochondrial evolutionary tree and detect subclades enriched in affected or unaffected individuals. Results: We discovered that subclade T1a1 was depleted in affected BRCA2 mutation carriers compared with the rest of clade T (hazard ratio (HR) = 0.55; 95% confidence interval (CI), 0.34 to 0.88; P = 0.01). Compared with the most frequent haplogroup in the general population (that is, H and T clades), the T1a1 haplogroup has a HR of 0.62 (95% CI, 0.40 to 0.95; P = 0.03). We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk. Conclusions: This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects.
Published: 2015

15. Inflight performance of the PILOT balloon-borne experiment

Author: Mangilli, A., Foënard, G., Aumont, J., Hughes, A., Mot, B., Bernard, J-Ph., Lacourt, A., Ristorcelli, I., Montier, L., Longval, Y., Ade, P., André, Y., Bautista, L., deBernardis, P., Boulade, O., Bousqet, F., Bouzit, M., Bray, N., Buttice, V., Charra, M., Chaigneau, M., Crane, B., Doumayrou, E., Dubois, J. P., Dupac, X., Engel, C., Etcheto, P., Gelot, Ph., Griffin, M., Grabarnik, S., Hargrave, P., Lepennec, Y., Laureijs, R., Leriche, B., Maestre, S., Maffei, B., Martignac, J., Marty, C., Marty, W., Masi, S., Mirc, F., Misawa, R., Nicot, J. M., Montel, J., Narbonne, J., Pajot, F., Pérot, E., Parot, G., Pimentao, J., Pisano, G., Ponthieu, N., Rodriguez, L., Roudil, G., Roussel, H., Salatino, M., Savini, G., Simonella, O., Saccoccio, M., Stever, S., Tapie, P., Tauber, J., Tibbs, C., and Tucker, C.
Published: 2019
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16. Implementation of The Parents and Teachers’ Initiatives in Teaching Grade 1 Learners in Phonetic Blending Amidst Covid-19 Pandemic

Author: Manguilimotan, Ramil P., primary, Padillo, Gengen G., additional, Bustillo, Maria Richiel, additional, Quilaton, Engel C., additional, Pajares, Noime P., additional, Capuno, Reylan G., additional, and Villarin, Eric R., additional
Published: 2023
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17. FANCM missense variants and breast cancer risk

Author: Figlioli, G., Billaud, A., Ahearn, T.U., Antonenkova, N.N., Becher, H., Beckmann, M.W., Behrens, S., Benitez, J., Bermisheva, M., Blok, M.J., Bogdanova, N.V., Bonanni, B., Burwinkel, B., Camp, N.J., Campbell, A., Castelao, J.E., Cessna, M.H., Chanock, S.J., Czene, K., Devilee, P., Dork, T., Engel, C., Eriksson, M., Fasching, P.A., Figueroa, J.D., Gabrielson, M., Gago-Dominguez, M., Garcia-Closas, M., Gonzalez-Neira, A., Grassmann, F., Guenel, P., Gundert, M., Hadjisavvas, A., Hahnen, E., Hall, P., Hamann, U., Harrington, P.A., He, W., Hillemanns, P., Hollestelle, A., Hooning, M.J., Hoppe, R., Howell, A., Humphreys, K., Jager, A., Jakubowska, A., Khusnutdinova, E.K., Ko, Y.D., Kristensen, V.N., Lindblom, A., Peterlongo, Paolo, MUMC+: DA KG Lab Specialisten (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), and Medical Oncology
Subjects: Manchester Cancer Research Centre, SDG 3 - Good Health and Well-being, ResearchInstitutes_Networks_Beacons/mcrc, Framework, Genetics, Pathogenicity, C.5791c-greater-than-t, Gene, Genetics (clinical)
Abstract: Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer moderately increased risk of ER-negative and triple-negative breast cancer (TNBC), especially for women with a family history of the disease. Association between FANCM missense variants (MVs) and breast cancer risk has been postulated. In this study, we further used the BRIDGES study to test 689 FANCM MVs for association with breast cancer risk, overall and in ER-negative and TNBC subtypes, in 39,885 cases (7566 selected for family history) and 35,271 controls of European ancestry. Sixteen common MVs were tested individually; the remaining rare 673 MVs were tested by burden analyses considering their position and pathogenicity score. We also conducted a meta-analysis of our results and those from published studies. We did not find evidence for association for any of the 16 variants individually tested. The rare MVs were significantly associated with increased risk of ER-negative breast cancer by burden analysis comparing familial cases to controls (OR = 1.48; 95% CI 1.07–2.04; P = 0.017). Higher ORs were found for the subgroup of MVs located in functional domains or predicted to be pathogenic. The meta-analysis indicated that FANCM MVs overall are associated with breast cancer risk (OR = 1.22; 95% CI 1.08–1.38; P = 0.002). Our results support the definition from previous analyses of FANCM as a moderate-risk breast cancer gene and provide evidence that FANCM MVs could be low/moderate risk factors for ER-negative and TNBC subtypes. Further genetic and functional analyses are necessary to clarify better the increased risks due to FANCM MVs.
Published: 2023

18. Longitude-resolved imaging of Jupiter at lambda = 2 cm

Author: Sault, R. J., Engel, C., and de Pater, Imke
Subjects: Astrophysics
Abstract: We present a technique for creating a longitude-resolved image of Jupiter's thermal radio emission. The technique has been applied to VLA data taken on 25 January 1996 at a wavelength of 2 cm. A comparison with infrared data shows a good correlation between radio hot spots and the 5 micron hot spots seen on IRTF images. The brightest spot on the radio image is most likely the hot spot through which the Galileo probe entered Jupiter's atmosphere. We derived the ammonia abundance (= volume mixing ratio) in the hot spot, which is ~ 3 x 10^{-5}, about half that seen in longitude-averaged images of the NEB, or less than 1/3 of the longitude-averaged ammonia abundance in the EZ. This low ammonia abundance probably extends down to at least the 4 bar level.
Published: 2006
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19. Public Release of 2dF data from the Fornax Cluster Spectroscopic Survey

Author: Drinkwater, M. J., Engel, C., Phillipps, S., Jones, J. B., and Meyer, M. J.
Subjects: Astrophysics
Abstract: Thanks to the 2dF spectrograph on the Anglo-Australian Telescope, we have recently completed the first stage of a complete spectroscopic survey more than one order of magnitude larger than any previous study, measuring 7000 spectra in a 6 sq.deg. area as part of our study of the Fornax Cluster. In this article we describe the public release of 3600 spectra from our first field. We hope that this public release will encourage colleagues making surveys for rare objects to choose these fields, as much of the follow-up spectroscopy that might be required is available from our data., Comment: To appear in the AAO Newsletter. Data online at http://astro.ph.unimelb.edu.au/data/
Published: 2001

20. Annals of Community-Oriented Education, 1994.

Author: Network of Community-Oriented Educational Institutions for Health Sciences (Netherlands). and Engel, C.
Abstract: This volume presents 47 papers addressing various aspects of community-oriented education; lists relevant and current books, articles and papers; and provides basic information about the international non-governmental organization, the Network of Community-Oriented Educational Institutions for Health Sciences. The papers are grouped into the following six categories: (1) strategies and change (with papers from India, Canada, the Philippines, China and the United Kingdom); (2) curricula and courses (from Australia, China, Sweden, the Netherlands, Ethiopia, India, Nigeria, Australia, and Egypt); (3) postgraduate and continuing education (Chile, Turkey, Italy, Australia, and Canada); (4) problem-based learning (United States, Australia, West Indies, Malaysia, and the Netherlands); (5) other methods and materials (Turkey, United Arab Emirates, Australia, Canada, Italy, United Kingdom, and Switzerland); and (6) assessment (India, Malaysia, Australia, United States, and Italy). A section on literature lists recent books, journals and newsletters, and recent papers on the following topics: assessment, assessment (objective structured clinical examinations), assessment with standardized patients, communication skills, community-based education, evaluation by students, ethics, learning, policy and strategy, problem-based learning, selection for admission, stress, and teaching. The final section provides information on the Network including a listing of member institutions, a listing of the Network executive committee and secretariat, a statement of the Network objectives, and an explanation of membership. (Many individual papers contain references.) (DB)
Published: 1994

21. Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants

Author: Thomassen, M., Mesman, R.L.S., Hansen, T.V.O., Menendez, M., Rossing, M., Esteban-Sanchez, A., Tudini, E., Torngren, T., Parsons, M.T., Pedersen, I.S., Teo, S.H., Kruse, T.A., Moller, P., Borg, A., Jensen, U.B., Christensen, L.L., Singer, C.F., Muhr, D., Santamarina, M., Brandao, R., Andresen, B.S., Feng, B.J., Canson, D., Richardson, M.E., Karam, R., Pesaran, T., LaDuca, H., Conner, B.R., Abualkheir, N., Hoang, L., Calleja, F.M.G.R., Andrews, L., James, P.A., Bunyan, D., Hamblett, A., Radice, P., Goldgar, D.E., Walker, L.C., Engel, C., Claes, K.B.M., Machackova, E., Baralle, D., Viel, A., Wappenschmidt, B., Lazaro, C., Vega, A., Vreeswijk, M.P.G., Hoya, M. de la, Spurdle, A.B., ENIGMA Consortium, RS: GROW - R4 - Reproductive and Perinatal Medicine, and Klinische Genetica
Subjects: splicing, AMP classification, quantitation, ACMG/AMP classification, dPCR, ACMG, Medicine and Health Sciences, Genetics, Biology and Life Sciences, BRCA2, Genetics (clinical), functional analysis
Abstract: Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splice event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess pathogenicity of 85 variants in/near BRCA2 exon 3. Bioinformatically predicted spliceogenic variants underwent mRNA splicing analysis using minigenes and/or patient samples. ∆E3 was measured using quantitative analysis. A mouse embryonic stem cell (mESC) based assay was used to determine the impact of 18 variants on mRNA splicing and protein function. For each variant, population frequency, bioinformatic predictions, clinical data and existing mRNA splicing and functional results were collated. Variant class was assigned using a gene-specific adaptation of ACMG/AMP guidelines, following a recently proposed points-based system. mRNA and mESC analysis combined identified six variants with transcript and/or functional profiles interpreted as loss of function. Cryptic splice site use for acceptor site variants generated a transcript encoding a shorter protein that retains activity. Overall, 69/85 (81%) variants were classified using the point-based approach. Our analysis shows the value of applying gene-specific ACMG/AMP guidelines using a points-based approach and highlights the consideration of cryptic splice site usage to appropriately assign PVS1 code strength. This article is protected by copyright. All rights reserved.
Published: 2022

22. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Author: Mulligan, AM, Couch, FJ, Barrowdale, D, Domchek, SM, Eccles, D, Nevanlinna, H, Ramus, SJ, Robson, M, Sherman, M, Spurdle, AB, Wappenschmidt, B, Lee, A, McGuffog, L, Healey, S, Sinilnikova, OM, Janavicius, R, Hansen, TV, Nielsen, FC, Ejlertsen, B, Osorio, A, Muñoz-Repeto, I, Durán, M, Godino, J, Pertesi, M, Benítez, J, Peterlongo, P, Manoukian, S, Peissel, B, Zaffaroni, D, Cattaneo, E, Bonanni, B, Viel, A, Pasini, B, Papi, L, Ottini, L, Savarese, A, Bernard, L, Radice, P, Hamann, U, Verheus, M, Meijers-Heijboer, HEJ, Wijnen, J, Gómez García, EB, Nelen, MR, Kets, CM, Seynaeve, C, Tilanus-Linthorst, MMA, van der Luijt, RB, Os, TV, Rookus, M, Frost, D, Jones, JL, Evans, DG, Lalloo, F, Eeles, R, Izatt, L, Adlard, J, Davidson, R, Cook, J, Donaldson, A, Dorkins, H, Gregory, H, Eason, J, Houghton, C, Barwell, J, Side, LE, McCann, E, Murray, A, Peock, S, Godwin, AK, Schmutzler, RK, Rhiem, K, Engel, C, Meindl, A, Ruehl, I, Arnold, N, Niederacher, D, Sutter, C, Deissler, H, Gadzicki, D, Kast, K, Preisler-Adams, S, Varon-Mateeva, R, Schoenbuchner, I, Fiebig, B, Heinritz, W, Schäfer, D, Gevensleben, H, and Caux-Moncoutier, V
Abstract: Introduction: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour.Methods: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach.Results: The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 × 10-6). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status.Conclusions: The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of tumour subtypes. As more risk modifying variants are identified, incorporating these associations into breast cancer subtype-specific risk models may improve clinical management for mutation carriers. © 2011 Mulligan et al.; licensee BioMed Central Ltd.
Published: 2011

23. Annals of Community-Oriented Education, 1993.

Author: Network of Community-Oriented Educational Institutions for Health Sciences (Netherlands). and Engel, C.
Abstract: This volume presents 33 papers addressing various aspects of community-oriented education; lists relevant and current books, articles and papers; and provides basic information about the Network of Community-Oriented Educational Institutions for Health Sciences, the international non-governmental organization. The papers are grouped into seven categories: (1) community-oriented education (examples from the Sudan, Philippines, Australia, Zimbabwe, and Kenya); (2) curriculum and methods (papers from Germany, China, Sudan, Australia, and the United Kingdom); (3) policy and leadership (from the United States and Australia); (4) resources (from the United States, United Kingdom, and Canada); (5) student selection (from the Sudan); (6) career choice (Malaysia); (6) teacher training (Sweden and Australia); (7) and worldwide medical education. A section on literature lists recent books, journals and newsletters, and recent papers on the following topics: assessment and accreditation, clinical reasoning and critical reasoning, community-based education, education (policy and administration), ethics, problem-based learning, selection of students, teaching and learning, and teaching teachers. The final section provides information on the Network including a listing of member institutions, a listing of the Network executive committee and secretariat, a statement of the Network objectives, and an explanation of membership. (Many individual papers contain references.) (DB)
Published: 1993

24. Annals of Community-Oriented Education, Volume 5.

Author: Network of Community-Oriented Educational Institutions for Health Sciences (Netherlands). and Engel, C.
Abstract: This collection of 34 papers from various nations reflects the state of the art in the development of community-based medical educational programs. Papers are grouped into the following topical areas: (1) community-oriented education, (2) evaluation, (3) innovation and change, (4) problem-based learning, (5) administration of education, and (6) medical education worldwide. Specific topics of papers include: demonstration programs, models, community based health programs, rural community programs, evaluation of innovative programs, evaluation models, outcomes evaluation, evaluation of problem based medical education, evaluation of tutor effectiveness, lecturer evaluation, the use of evaluation to effect program change, materials for problem based learning, use of standardized patients, admission to medical education, the World Federation for Medical Education, the World Health Organization's agenda for changing medical education, and research in medical and health professional education. Countries represented include the Sudan, Nigeria, the United States, Senegal, Canada, Australia, the Netherlands, Bulgaria, New Zealand, the United Kingdom, Indonesia, and Sweden. A bibliography lists 48 recent books, 19 journals and newsletters, and 53 abstracts of recent papers addressing: administration, assessment, community-oriented and general practice, educational methods, evaluation, problem-based learning, problem solving, skills training, students' learning, research, and teaching. Institutional members of the Network of Community-Oriented Educational Institutions for Health Sciences and members of the Network's executive committee are listed, and the Network's aims and objectives are outlined. (DB)
Published: 1992

25. Novel Cell Architectures with Back-side Transistor Contacts for Scaling and Performance

Author: Kobrinsky, M., primary, Silva, J. D, additional, Mannebach, E., additional, Mills, S., additional, Qader, M. Abd El, additional, Adebayo, O., additional, Radhakrishna, N. Arkali, additional, Beasley, M., additional, Chawla, J., additional, Chugh, S., additional, Dasgupta, A., additional, Desai, U., additional, Re, E. De, additional, Dewey, G., additional, Edwards, T., additional, Engel, C., additional, Gudmundsson, V., additional, Hicks, J., additional, Krist, B., additional, Mehandru, R., additional, Meric, I., additional, Morrow, P., additional, Nandi, D., additional, Patel, P., additional, Ramamurthy, R., additional, Samanta, D., additional, Shoer, L., additional, Amour, A. St, additional, Tan, L. H., additional, Yemenicioglu, S., additional, Wang, X., additional, and Ghani, T., additional
Published: 2023
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26. Fiber optic temperature sensors in under-documented dams

Author: Quinn, M.C.L., primary, Engel, C., additional, Coleman, T., additional, Johansson, S., additional, and Baxter, C.D.P., additional
Published: 2019
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27. Impact of social isolation on grey matter structure and cognitive functions: A population-based longitudinal neuroimaging study

Author: Lammer, L., Beyer, F., https://orcid.org/0000-0001-5401-852X, Luppa, M., Sanders, C., Baber, R., Engel, C., Wirkner, K., Loffler, M., Riedel-Heller, S., Villringer, A., https://orcid.org/0000-0003-2604-2404, Witte, A., and https://orcid.org/0000-0001-9054-6688
Abstract: Background: Social isolation has been suggested to increase the risk to develop cognitive decline. However, our knowledge on causality and neurobiological underpinnings is still limited.Methods: In this preregistered analysis, we tested the impact of social isolation on central features of brain and cognitive ageing using a longitudinal population-based magnetic resonance imaging (MRI) study. We assayed 1992 cognitively healthy participants (50-82years old, 921women) at baseline and 1409 participants after~6y follow-up.Results: We found baseline social isolation and change in social isolation to be associated with smaller volumes of the hippocampus and clusters of reduced cortical thickness. Furthermore, poorer cognitive functions (memory, processing speed, executive functions) were linked to greater social isolation, too.Conclusions: Combining advanced neuroimaging outcomes with prevalent lifestyle characteristics from a well-characterized population of middle- to older aged adults, we provide evidence that social isolation contributes to human brain atrophy and cognitive decline. Within-subject effects of social isolation were similar to between-subject effects, indicating an opportunity to reduce dementia risk by promoting social networks.
Published: 2023

28. Toward the Bilayer Proteome, Electrospray Ionization-Mass Spectrometry of Large, Intact Transmembrane Proteins

Author: Whitelegge, J. P., Le Coutre, J., Lee, J. C., Engel, C. K., Prive, G. G., Faull, K. F., and Kaback, H. R.
Published: 1999

29. In-situ observation of environmentally assisted crack initiation and short crack growth behaviour of new-generation 7xxx series alloys in humid air

Author: Euesden, R.T., primary, Aboura, Y., additional, Garner, A.J., additional, Jailin, T., additional, Grant, C., additional, Barrett, Z., additional, Engel, C., additional, Shanthraj, P., additional, Holroyd, N.J.H., additional, Prangnell, P.B., additional, and Burnett, T.L., additional
Published: 2023
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30. Abstract No. 570 Minimally Invasive Interventional Radiology Management of Kidney and Ureteral Stones: A Preliminary Experience

Author: Gu, K., primary, DePalma, A., additional, Keshishian, E., additional, Hoots, G., additional, Zwiebel, B., additional, Engel, C., additional, Nezami, N., additional, and Shaikh, J., additional
Published: 2023
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31. A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2

Author: Cutting, G, Zanti, M, O'Mahony, DG, Parsons, MT, Li, H, Dennis, J, Aittomakkiki, K, Andrulis, IL, Anton-Culver, H, Aronson, KJ, Augustinsson, A, Becher, H, Bojesen, SE, Bolla, MK, Brenner, H, Brown, MA, Buys, SS, Canzian, F, Caputo, SM, Castelao, JE, Chang-Claude, J, Czene, K, Daly, MB, De Nicolo, A, Devilee, P, Dork, T, Dunning, AM, Dwek, M, Eccles, DM, Engel, C, Evans, DG, Fasching, PA, Gago-Dominguez, M, Garcia-Closas, M, Garcia-Saenz, JA, Gentry-Maharaj, A, Geurts-Giele, WRR, Giles, GG, Glendon, G, Goldberg, MS, Garcia, EBG, Guendert, M, Guenel, P, Hahnen, E, Haiman, CA, Hall, P, Hamann, U, Harkness, EF, Hogervorst, FBL, Hollestelle, A, Hoppe, R, Hopper, JL, Houdayer, C, Houlston, RS, Howell, A, Investigators, A, Jakimovska, M, Jakubowska, A, Jernstrom, H, John, EM, Kaaks, R, Kitahara, CM, Koutros, S, Kraft, P, Kristensen, VN, Lacey, J, Lambrechts, D, Leone, M, Lindblom, A, Lush, M, Mannermaa, A, Manoochehri, M, Manoukian, S, Margolin, S, Martinez, ME, Menon, U, Milne, RL, Monteiro, AN, Murphy, RA, Neuhausen, SL, Nevanlinna, H, Newman, WG, Offit, K, Park, SK, James, P, Peterlongo, P, Peto, J, Plaseska-Karanfilska, D, Punie, K, Radice, P, Rashid, MU, Rennert, G, Romero, A, Rosenberg, EH, Saloustros, E, Sandler, DP, Schmidt, MK, Schmutzler, RK, Shu, X-O, Simard, J, Southey, MC, Stone, J, Stoppa-Lyonnet, D, Tamimi, RM, Tapper, WJ, Taylor, JA, Teo, SH, Teras, LR, Terry, MB, Thomassen, M, Troester, MA, Vachon, CM, Vega, A, Vreeswijk, MPG, Wang, Q, Wappenschmidt, B, Weinberg, CR, Wolk, A, Zheng, W, Feng, B, Couch, FJ, Spurdle, AB, Easton, DF, Goldgar, DE, Michailidou, K, Cutting, G, Zanti, M, O'Mahony, DG, Parsons, MT, Li, H, Dennis, J, Aittomakkiki, K, Andrulis, IL, Anton-Culver, H, Aronson, KJ, Augustinsson, A, Becher, H, Bojesen, SE, Bolla, MK, Brenner, H, Brown, MA, Buys, SS, Canzian, F, Caputo, SM, Castelao, JE, Chang-Claude, J, Czene, K, Daly, MB, De Nicolo, A, Devilee, P, Dork, T, Dunning, AM, Dwek, M, Eccles, DM, Engel, C, Evans, DG, Fasching, PA, Gago-Dominguez, M, Garcia-Closas, M, Garcia-Saenz, JA, Gentry-Maharaj, A, Geurts-Giele, WRR, Giles, GG, Glendon, G, Goldberg, MS, Garcia, EBG, Guendert, M, Guenel, P, Hahnen, E, Haiman, CA, Hall, P, Hamann, U, Harkness, EF, Hogervorst, FBL, Hollestelle, A, Hoppe, R, Hopper, JL, Houdayer, C, Houlston, RS, Howell, A, Investigators, A, Jakimovska, M, Jakubowska, A, Jernstrom, H, John, EM, Kaaks, R, Kitahara, CM, Koutros, S, Kraft, P, Kristensen, VN, Lacey, J, Lambrechts, D, Leone, M, Lindblom, A, Lush, M, Mannermaa, A, Manoochehri, M, Manoukian, S, Margolin, S, Martinez, ME, Menon, U, Milne, RL, Monteiro, AN, Murphy, RA, Neuhausen, SL, Nevanlinna, H, Newman, WG, Offit, K, Park, SK, James, P, Peterlongo, P, Peto, J, Plaseska-Karanfilska, D, Punie, K, Radice, P, Rashid, MU, Rennert, G, Romero, A, Rosenberg, EH, Saloustros, E, Sandler, DP, Schmidt, MK, Schmutzler, RK, Shu, X-O, Simard, J, Southey, MC, Stone, J, Stoppa-Lyonnet, D, Tamimi, RM, Tapper, WJ, Taylor, JA, Teo, SH, Teras, LR, Terry, MB, Thomassen, M, Troester, MA, Vachon, CM, Vega, A, Vreeswijk, MPG, Wang, Q, Wappenschmidt, B, Weinberg, CR, Wolk, A, Zheng, W, Feng, B, Couch, FJ, Spurdle, AB, Easton, DF, Goldgar, DE, and Michailidou, K
Abstract: A large number of variants identified through clinical genetic testing in disease susceptibility genes, are of uncertain significance (VUS). Following the recommendations of the American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP), the frequency in case-control datasets (PS4 criterion), can inform their interpretation. We present a novel case-control likelihood ratio-based method that incorporates gene-specific age-related penetrance. We demonstrate the utility of this method in the analysis of simulated and real datasets. In the analyses of simulated data, the likelihood ratio method was more powerful compared to other methods. Likelihood ratios were calculated for a case-control dataset of BRCA1 and BRCA2 variants from the Breast Cancer Association Consortium (BCAC), and compared with logistic regression results. A larger number of variants reached evidence in favor of pathogenicity, and a substantial number of variants had evidence against pathogenicity - findings that would not have been reached using other case-control analysis methods. Our novel method provides greater power to classify rare variants compared to classical case-control methods. As an initiative from the ENIGMA Analytical Working Group, we provide user-friendly scripts and pre-formatted excel calculators for implementation of the method for rare variants in BRCA1, BRCA2 and other high-risk genes with known penetrance.
Published: 2023

32. Beeinflussen Parameter der Persönlichkeit sowie der physischen und mentalen Gesundheit die Befunde des Stimmumfangsprofils?

Author: Fuchs, M, Ostermann, TA, Hinz, A, Engel, C, Berger, T, Fuchs, M, Ostermann, TA, Hinz, A, Engel, C, and Berger, T
Abstract: Hintergrund: Bei der Messung des Stimmumfangsprofils (SUP) nehmen mehrere Faktoren Einfluss auf die erhobenen Werte: die Messmethodik, die Untersuchenden und die Untersuchten selbst. Insbesondere Charakteristika der Untersuchten wurden bisher nur wenig bezüglich ihrer Effekte auf die Messung beschrieben. Ziel der explorativen Studie war daher die Untersuchung von Assoziationen zwischen Stimmparametern aus dem SUP und der Persönlichkeit sowie der physischen und mentalen Gesundheit der Untersuchten.Material und Methoden: In einer cross-sectionalen Populationsstudie (Teil der LIFE-Adult-Studie) wurden 2.639 Personen (46,5% Männer, 53,5% Frauen) im Alter zwischen 18 und 80 Jahren zufällig aus einer mitteldeutschen Allgemeinpopulation rekrutiert. Sie beantworteten Fragebögen zur Depression (CES-D), Ängstlichkeit (GAD-7), Lebenszufriedenheit (SWLS), Persönlichkeit (NEO16-AM) und Lebensqualität (SF-8). Bei allen wurde das SUP mit der Software DiVAS gemäß UEP-Empfehlungen gemessen. Ausgewertet wurden Frequenz- und Dynamikumfänge und die Tonhaltedauer. Die statistische Analyse erfolgte mit Korrelations- und Regressionsanalysen.Ergebnisse: Größere Frequenz- und Dynamikumfänge sowie eine längere Tonhaltedauer (THD) korrelierten in beiden Geschlechtern mit höherer Extraversion und Lebensqualität, bei den Frauen auch mit größerer Offenheit und Verträglichkeit, kleine Umfänge und kürzere THD dagegen mit Depression. Zudem fand sich bei Männern eine negative Korrelation zwischen Neurotizismus und THD. Im Sprechstimmprofil zeigten sich stärkere Korrelationen zu den Dynamik-Werten, im Singstimmprofil zu den Frequenz-Werten. Nur schwache Assoziationen fanden sich zur Ängstlichkeit, Lebenszufriedenheit und Gewissenhaftigkeit.Diskussion: Obgleich die Korrelationen auf individueller Ebene nicht stark waren, fanden sich bei der Analyse aller 2.693 Individuen typische Muster. Dabei waren positive Korrelationen mit Extraversion und physischer Gesundheit sowie negative Korrelationen mit Depr
Published: 2023

33. Das patientenorientierte Register HerediCaRe des Deutschen Konsortiums Familiärer Brust- und Eierstockkrebs als Grundlage für die Wissen generierende Patientenversorgung

Author: Kleinstäuber, S, Engel, C, Keser, E, Harkener, S, Stausberg, J, Schmutzler, RK, Kleinstäuber, S, Engel, C, Keser, E, Harkener, S, Stausberg, J, and Schmutzler, RK
Published: 2023

34. Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium

Author: Kast, KM, John, EL, Hopper, J, Andrieu, N, Nogues, C, Mouret-Fourme, E, Lasset, C, Fricker, J-P, Berthet, P, Mari, V, Salle, LK, Schmidt, M, Ausems, MGEM, Garcia, EBG, van de Beek, IR, Wevers, M, Evans, DG, Tischkowitz, M, Lalloo, F, Cook, J, Izatt, L, Tripathi, V, Snape, K, Musgrave, H, Sharif, S, Murray, JV, Colonna, SV, Andrulis, IL, Daly, MB, Southey, MC, de la Hoya, M, Osorio, A, Foretova, L, Berkova, D, Gerdes, A-M, Olah, E, Jakubowska, A, Singer, CF, Tan, Y, Augustinsson, A, Rantala, J, Simard, J, Schmutzler, RK, Milne, RL, Phillips, K-A, Terry, MB, Goldgar, D, van Leeuwen, FE, Mooij, TM, Antoniou, AC, Easton, DF, Rookus, MA, Engel, C, Kast, KM, John, EL, Hopper, J, Andrieu, N, Nogues, C, Mouret-Fourme, E, Lasset, C, Fricker, J-P, Berthet, P, Mari, V, Salle, LK, Schmidt, M, Ausems, MGEM, Garcia, EBG, van de Beek, IR, Wevers, M, Evans, DG, Tischkowitz, M, Lalloo, F, Cook, J, Izatt, L, Tripathi, V, Snape, K, Musgrave, H, Sharif, S, Murray, JV, Colonna, SV, Andrulis, IL, Daly, MB, Southey, MC, de la Hoya, M, Osorio, A, Foretova, L, Berkova, D, Gerdes, A-M, Olah, E, Jakubowska, A, Singer, CF, Tan, Y, Augustinsson, A, Rantala, J, Simard, J, Schmutzler, RK, Milne, RL, Phillips, K-A, Terry, MB, Goldgar, D, van Leeuwen, FE, Mooij, TM, Antoniou, AC, Easton, DF, Rookus, MA, and Engel, C
Abstract: INTRODUCTION: Height, body mass index (BMI), and weight gain are associated with breast cancer risk in the general population. It is unclear whether these associations also exist for carriers of pathogenic variants in the BRCA1 or BRCA2 genes. PATIENTS AND METHODS: An international pooled cohort of 8091 BRCA1/2 variant carriers was used for retrospective and prospective analyses separately for premenopausal and postmenopausal women. Cox regression was used to estimate breast cancer risk associations with height, BMI, and weight change. RESULTS: In the retrospective analysis, taller height was associated with risk of premenopausal breast cancer for BRCA2 variant carriers (HR 1.20 per 10 cm increase, 95% CI 1.04-1.38). Higher young-adult BMI was associated with lower premenopausal breast cancer risk for both BRCA1 (HR 0.75 per 5 kg/m2, 95% CI 0.66-0.84) and BRCA2 (HR 0.76, 95% CI 0.65-0.89) variant carriers in the retrospective analysis, with consistent, though not statistically significant, findings from the prospective analysis. In the prospective analysis, higher BMI and adult weight gain were associated with higher postmenopausal breast cancer risk for BRCA1 carriers (HR 1.20 per 5 kg/m2, 95% CI 1.02-1.42; and HR 1.10 per 5 kg weight gain, 95% CI 1.01-1.19, respectively). CONCLUSION: Anthropometric measures are associated with breast cancer risk for BRCA1 and BRCA2 variant carriers, with relative risk estimates that are generally consistent with those for women from the general population.
Published: 2023

35. Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

Author: Mueller, SH, Lai, AG, Valkovskaya, M, Michailidou, K, Bolla, MK, Wang, Q, Dennis, J, Lush, M, Abu-Ful, Z, Ahearn, TU, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Arndt, V, Aronson, KJ, Augustinsson, A, Baert, T, Freeman, LEB, Beckmann, MW, Behrens, S, Benitez, J, Bermisheva, M, Blomqvist, C, Bogdanova, N, Bojesen, SE, Bonanni, B, Brenner, H, Brucker, SY, Buys, SS, Castelao, JE, Chan, TL, Chang-Claude, J, Chanock, SJ, Choi, J-Y, Chung, WK, Colonna, S, Cornelissen, S, Couch, FJ, Czene, K, Daly, MB, Devilee, P, Dork, T, Dossus, L, Dwek, M, Eccles, DM, Ekici, AB, Eliassen, AH, Engel, C, Evans, DG, Fasching, PA, Fletcher, O, Flyger, H, Gago-Dominguez, M, Gao, Y-T, Garcia-Closas, M, Garcia-Saenz, JA, Genkinger, J, Gentry-Maharaj, A, Grassmann, F, Guenel, P, Gundert, M, Haeberle, L, Hahnen, E, Haiman, CA, Hakansson, N, Hall, P, Harkness, EF, Harrington, PA, Hartikainen, JM, Hartman, M, Hein, A, Ho, W-K, Hooning, MJ, Hoppe, R, Hopper, JL, Houlston, RS, Howell, A, Hunter, DJ, Huo, D, Investigators, A, Ito, H, Iwasaki, M, Jakubowska, A, Janni, W, John, EM, Jones, ME, Jung, A, Kaaks, R, Kang, D, Khusnutdinova, EK, Kim, S-W, Kitahara, CM, Koutros, S, Kraft, P, Kristensen, VN, Kubelka-Sabit, K, Kurian, AW, Kwong, A, Lacey, J, Lambrechts, D, Le Marchand, L, Li, J, Linet, M, Lo, W-Y, Long, J, Lophatananon, A, Mannermaa, A, Manoochehri, M, Margolin, S, Matsuo, K, Mavroudis, D, Menon, U, Muir, K, Murphy, RA, Nevanlinna, H, Newman, WG, Niederacher, D, O'Brien, KM, Obi, N, Offit, K, Olopade, O, Olshan, AF, Olsson, H, Park, SK, Patel, A, Perou, CM, Peto, J, Pharoah, PDP, Plaseska-Karanfilska, D, Presneau, N, Rack, B, Radice, P, Ramachandran, D, Rashid, MU, Rennert, G, Romero, A, Ruddy, KJ, Ruebner, M, Saloustros, E, Sandler, DP, Sawyer, EJ, Schmidt, MK, Schmutzler, RK, Schneider, MO, Scott, C, Shah, M, Sharma, P, Shen, C-Y, Shu, X-O, Simard, J, Surowy, H, Tamimi, RM, Tapper, WJ, Taylor, JA, Teo, SH, Teras, LR, Toland, AE, Tollenaar, RAEM, Torres, D, Torres-Mejia, G, Troester, MA, Truong, T, Vachon, CM, Vijai, J, Weinberg, CR, Wendt, C, Winqvist, R, Wolk, A, Wu, AH, Yamaji, T, Yang, XR, Yu, J-C, Zheng, W, Ziogas, A, Ziv, E, Dunning, AM, Easton, DF, Hemingway, H, Hamann, U, Kuchenbaecker, KB, Mueller, SH, Lai, AG, Valkovskaya, M, Michailidou, K, Bolla, MK, Wang, Q, Dennis, J, Lush, M, Abu-Ful, Z, Ahearn, TU, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Arndt, V, Aronson, KJ, Augustinsson, A, Baert, T, Freeman, LEB, Beckmann, MW, Behrens, S, Benitez, J, Bermisheva, M, Blomqvist, C, Bogdanova, N, Bojesen, SE, Bonanni, B, Brenner, H, Brucker, SY, Buys, SS, Castelao, JE, Chan, TL, Chang-Claude, J, Chanock, SJ, Choi, J-Y, Chung, WK, Colonna, S, Cornelissen, S, Couch, FJ, Czene, K, Daly, MB, Devilee, P, Dork, T, Dossus, L, Dwek, M, Eccles, DM, Ekici, AB, Eliassen, AH, Engel, C, Evans, DG, Fasching, PA, Fletcher, O, Flyger, H, Gago-Dominguez, M, Gao, Y-T, Garcia-Closas, M, Garcia-Saenz, JA, Genkinger, J, Gentry-Maharaj, A, Grassmann, F, Guenel, P, Gundert, M, Haeberle, L, Hahnen, E, Haiman, CA, Hakansson, N, Hall, P, Harkness, EF, Harrington, PA, Hartikainen, JM, Hartman, M, Hein, A, Ho, W-K, Hooning, MJ, Hoppe, R, Hopper, JL, Houlston, RS, Howell, A, Hunter, DJ, Huo, D, Investigators, A, Ito, H, Iwasaki, M, Jakubowska, A, Janni, W, John, EM, Jones, ME, Jung, A, Kaaks, R, Kang, D, Khusnutdinova, EK, Kim, S-W, Kitahara, CM, Koutros, S, Kraft, P, Kristensen, VN, Kubelka-Sabit, K, Kurian, AW, Kwong, A, Lacey, J, Lambrechts, D, Le Marchand, L, Li, J, Linet, M, Lo, W-Y, Long, J, Lophatananon, A, Mannermaa, A, Manoochehri, M, Margolin, S, Matsuo, K, Mavroudis, D, Menon, U, Muir, K, Murphy, RA, Nevanlinna, H, Newman, WG, Niederacher, D, O'Brien, KM, Obi, N, Offit, K, Olopade, O, Olshan, AF, Olsson, H, Park, SK, Patel, A, Perou, CM, Peto, J, Pharoah, PDP, Plaseska-Karanfilska, D, Presneau, N, Rack, B, Radice, P, Ramachandran, D, Rashid, MU, Rennert, G, Romero, A, Ruddy, KJ, Ruebner, M, Saloustros, E, Sandler, DP, Sawyer, EJ, Schmidt, MK, Schmutzler, RK, Schneider, MO, Scott, C, Shah, M, Sharma, P, Shen, C-Y, Shu, X-O, Simard, J, Surowy, H, Tamimi, RM, Tapper, WJ, Taylor, JA, Teo, SH, Teras, LR, Toland, AE, Tollenaar, RAEM, Torres, D, Torres-Mejia, G, Troester, MA, Truong, T, Vachon, CM, Vijai, J, Weinberg, CR, Wendt, C, Winqvist, R, Wolk, A, Wu, AH, Yamaji, T, Yang, XR, Yu, J-C, Zheng, W, Ziogas, A, Ziv, E, Dunning, AM, Easton, DF, Hemingway, H, Hamann, U, and Kuchenbaecker, KB
Abstract: BACKGROUND: Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes. METHODS: We evaluated the potential of gene-based aggregation in the Breast Cancer Association Consortium cohorts including 83,471 cases and 59,199 controls. Low-frequency variants were aggregated for individual genes' coding and regulatory regions. Association results in European ancestry samples were compared to single-marker association results in the same cohort. Gene-based associations were also combined in meta-analysis across individuals with European, Asian, African, and Latin American and Hispanic ancestry. RESULTS: In European ancestry samples, 14 genes were significantly associated (q < 0.05) with BC. Of those, two genes, FMNL3 (P = 6.11 × 10-6) and AC058822.1 (P = 1.47 × 10-4), represent new associations. High FMNL3 expression has previously been linked to poor prognosis in several other cancers. Meta-analysis of samples with diverse ancestry discovered further associations including established candidate genes ESR1 and CBLB. Furthermore, literature review and database query found further support for a biologically plausible link with cancer for genes CBLB, FMNL3, FGFR2, LSP1, MAP3K1, and SRGAP2C. CONCLUSIONS: Using extended gene-based aggregation tests including coding and regulatory variation, we report identification of plausible target genes for previously identified single-marker associations with BC as well as the discovery of novel genes implicated in BC development. Including multi ancestral cohorts in this study enabled the identification of otherwise missed disease associations as ESR1 (P = 1.31 × 10-5), demonstrating the importance of diversifying study cohorts.
Published: 2023

36. Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium.

Author: Kast, K., John, E.M., Hopper, J.L., Andrieu, N., Noguès, C., Mouret-Fourme, E., Lasset, C., Fricker, J.P., Berthet, Pascaline, Mari, V., Salle, L., Schmidt, M.K., Ausems, M.G.E.M., Garcia, E.B.G., Beek, I. van de, Wevers, M.R., Evans, D.G., Tischkowitz, M., Lalloo, F., Cook, J., Izatt, L., Tripathi, V., Snape, K., Musgrave, H., Sharif, S., Murray, J., Colonna, S.V., Andrulis, I.L., Daly, M.B., Southey, M.C., Hoya, M. de la, Osorio, A., Foretova, L., Berkova, D., Gerdes, A.M., Olah, E., Jakubowska, A., Singer, C.F., Tan, Yen, Augustinsson, A., Rantala, J., Simard, J., Schmutzler, R.K., Milne, R.L., Phillips, K.A., Terry, M.B., Goldgar, D., Leeuwen, F.E. van, Mooij, T.M., Antoniou, A.C., Easton, D.F., Rookus, M.A., Engel, C., Kast, K., John, E.M., Hopper, J.L., Andrieu, N., Noguès, C., Mouret-Fourme, E., Lasset, C., Fricker, J.P., Berthet, Pascaline, Mari, V., Salle, L., Schmidt, M.K., Ausems, M.G.E.M., Garcia, E.B.G., Beek, I. van de, Wevers, M.R., Evans, D.G., Tischkowitz, M., Lalloo, F., Cook, J., Izatt, L., Tripathi, V., Snape, K., Musgrave, H., Sharif, S., Murray, J., Colonna, S.V., Andrulis, I.L., Daly, M.B., Southey, M.C., Hoya, M. de la, Osorio, A., Foretova, L., Berkova, D., Gerdes, A.M., Olah, E., Jakubowska, A., Singer, C.F., Tan, Yen, Augustinsson, A., Rantala, J., Simard, J., Schmutzler, R.K., Milne, R.L., Phillips, K.A., Terry, M.B., Goldgar, D., Leeuwen, F.E. van, Mooij, T.M., Antoniou, A.C., Easton, D.F., Rookus, M.A., and Engel, C.
Abstract: Item does not contain fulltext, INTRODUCTION: Height, body mass index (BMI), and weight gain are associated with breast cancer risk in the general population. It is unclear whether these associations also exist for carriers of pathogenic variants in the BRCA1 or BRCA2 genes. PATIENTS AND METHODS: An international pooled cohort of 8091 BRCA1/2 variant carriers was used for retrospective and prospective analyses separately for premenopausal and postmenopausal women. Cox regression was used to estimate breast cancer risk associations with height, BMI, and weight change. RESULTS: In the retrospective analysis, taller height was associated with risk of premenopausal breast cancer for BRCA2 variant carriers (HR 1.20 per 10 cm increase, 95% CI 1.04-1.38). Higher young-adult BMI was associated with lower premenopausal breast cancer risk for both BRCA1 (HR 0.75 per 5 kg/m(2), 95% CI 0.66-0.84) and BRCA2 (HR 0.76, 95% CI 0.65-0.89) variant carriers in the retrospective analysis, with consistent, though not statistically significant, findings from the prospective analysis. In the prospective analysis, higher BMI and adult weight gain were associated with higher postmenopausal breast cancer risk for BRCA1 carriers (HR 1.20 per 5 kg/m(2), 95% CI 1.02-1.42; and HR 1.10 per 5 kg weight gain, 95% CI 1.01-1.19, respectively). CONCLUSION: Anthropometric measures are associated with breast cancer risk for BRCA1 and BRCA2 variant carriers, with relative risk estimates that are generally consistent with those for women from the general population.
Published: 2023

37. FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

Author: Figlioli, G, Billaud, A, Ahearn, TU, Antonenkova, NN, Becher, H, Beckmann, MW, Behrens, S, Benitez, J, Bermisheva, M, Blok, MJ, Bogdanova, NV, Bonanni, B, Burwinkel, B, Camp, NJ, Campbell, A, Castelao, JE, Cessna, MH, Chanock, SJ, Czene, K, Devilee, P, Doerk, T, Engel, C, Eriksson, M, Fasching, PA, Figueroa, JD, Gabrielson, M, Gago-Dominguez, M, Garcia-Closas, M, Gonzalez-Neira, A, Grassmann, F, Guenel, P, Guendert, M, Hadjisavvas, A, Hahnen, E, Hall, P, Hamann, U, Harrington, PA, He, W, Hillemanns, P, Hollestelle, A, Hooning, MJ, Hoppe, R, Howell, A, Humphreys, K, Jager, A, Jakubowska, A, Khusnutdinova, EK, Ko, Y-D, Kristensen, VN, Lindblom, A, Lissowska, J, Lubinski, J, Mannermaa, A, Manoukian, S, Margolin, S, Mavroudis, D, Newman, WG, Obi, N, Panayiotidis, MI, Rashid, MU, Rhenius, V, Rookus, MA, Saloustros, E, Sawyer, EJ, Schmutzler, RK, Shah, M, Sironen, R, Southey, MC, Suvanto, M, Tollenaar, RAEM, Tomlinson, I, Truong, T, van der Kolk, LE, van Veen, EM, Wappenschmidt, B, Yang, XR, Bolla, MK, Dennis, J, Dunning, AM, Easton, DF, Lush, M, Michailidou, K, Pharoah, PDP, Wang, Q, Adank, MA, Schmidt, MK, Andrulis, IL, Chang-Claude, J, Nevanlinna, H, Chenevix-Trench, G, Evans, DG, Milne, RL, Radice, P, Peterlongo, P, Figlioli, G, Billaud, A, Ahearn, TU, Antonenkova, NN, Becher, H, Beckmann, MW, Behrens, S, Benitez, J, Bermisheva, M, Blok, MJ, Bogdanova, NV, Bonanni, B, Burwinkel, B, Camp, NJ, Campbell, A, Castelao, JE, Cessna, MH, Chanock, SJ, Czene, K, Devilee, P, Doerk, T, Engel, C, Eriksson, M, Fasching, PA, Figueroa, JD, Gabrielson, M, Gago-Dominguez, M, Garcia-Closas, M, Gonzalez-Neira, A, Grassmann, F, Guenel, P, Guendert, M, Hadjisavvas, A, Hahnen, E, Hall, P, Hamann, U, Harrington, PA, He, W, Hillemanns, P, Hollestelle, A, Hooning, MJ, Hoppe, R, Howell, A, Humphreys, K, Jager, A, Jakubowska, A, Khusnutdinova, EK, Ko, Y-D, Kristensen, VN, Lindblom, A, Lissowska, J, Lubinski, J, Mannermaa, A, Manoukian, S, Margolin, S, Mavroudis, D, Newman, WG, Obi, N, Panayiotidis, MI, Rashid, MU, Rhenius, V, Rookus, MA, Saloustros, E, Sawyer, EJ, Schmutzler, RK, Shah, M, Sironen, R, Southey, MC, Suvanto, M, Tollenaar, RAEM, Tomlinson, I, Truong, T, van der Kolk, LE, van Veen, EM, Wappenschmidt, B, Yang, XR, Bolla, MK, Dennis, J, Dunning, AM, Easton, DF, Lush, M, Michailidou, K, Pharoah, PDP, Wang, Q, Adank, MA, Schmidt, MK, Andrulis, IL, Chang-Claude, J, Nevanlinna, H, Chenevix-Trench, G, Evans, DG, Milne, RL, Radice, P, and Peterlongo, P
Abstract: Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer moderately increased risk of ER-negative and triple-negative breast cancer (TNBC), especially for women with a family history of the disease. Association between FANCM missense variants (MVs) and breast cancer risk has been postulated. In this study, we further used the BRIDGES study to test 689 FANCM MVs for association with breast cancer risk, overall and in ER-negative and TNBC subtypes, in 39,885 cases (7566 selected for family history) and 35,271 controls of European ancestry. Sixteen common MVs were tested individually; the remaining rare 673 MVs were tested by burden analyses considering their position and pathogenicity score. We also conducted a meta-analysis of our results and those from published studies. We did not find evidence for association for any of the 16 variants individually tested. The rare MVs were significantly associated with increased risk of ER-negative breast cancer by burden analysis comparing familial cases to controls (OR = 1.48; 95% CI 1.07-2.04; P = 0.017). Higher ORs were found for the subgroup of MVs located in functional domains or predicted to be pathogenic. The meta-analysis indicated that FANCM MVs overall are associated with breast cancer risk (OR = 1.22; 95% CI 1.08-1.38; P = 0.002). Our results support the definition from previous analyses of FANCM as a moderate-risk breast cancer gene and provide evidence that FANCM MVs could be low/moderate risk factors for ER-negative and TNBC subtypes. Further genetic and functional analyses are necessary to clarify better the increased risks due to FANCM MVs.
Published: 2023

38. Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

Author: O'Mahony, DG, Ramus, SJ, Southey, MC, Meagher, NS, Hadjisavvas, A, John, EM, Hamann, U, Imyanitov, EN, Andrulis, IL, Sharma, P, Daly, MB, Hake, CR, Weitzel, JN, Jakubowska, A, Godwin, AK, Arason, A, Bane, A, Simard, J, Soucy, P, Caligo, MA, Mai, PL, Claes, KBM, Teixeira, MR, Chung, WK, Lazaro, C, Hulick, PJ, Toland, AE, Pedersen, IS, Neuhausen, SL, Vega, A, de la Hoya, M, Nevanlinna, H, Dhawan, M, Zampiga, V, Danesi, R, Varesco, L, Gismondi, V, Vellone, VG, James, PA, Janavicius, R, Nikitina-Zake, L, Nielsen, FC, van Overeem Hansen, T, Pejovic, T, Borg, A, Rantala, J, Offit, K, Montagna, M, Nathanson, KL, Domchek, SM, Osorio, A, Garcia, MJ, Karlan, BY, De Fazio, A, Bowtell, D, McGuffog, L, Leslie, G, Parsons, MT, Doerk, T, Speith, L-M, dos Santos, ES, da Costa, AABA, Radice, P, Peterlongo, P, Papi, L, Engel, C, Hahnen, E, Schmutzler, RK, Wappenschmidt, B, Easton, DF, Tischkowitz, M, Singer, CF, Tan, YY, Whittemore, AS, Sieh, W, Brenton, JD, Yannoukakos, D, Fostira, F, Konstantopoulou, I, Soukupova, J, Vocka, M, Chenevix-Trench, G, Pharoah, PDP, Antoniou, AC, Goldgar, DE, Spurdle, AB, Michailidou, K, Mourits, MJE, Lesueur, F, O'Mahony, DG, Ramus, SJ, Southey, MC, Meagher, NS, Hadjisavvas, A, John, EM, Hamann, U, Imyanitov, EN, Andrulis, IL, Sharma, P, Daly, MB, Hake, CR, Weitzel, JN, Jakubowska, A, Godwin, AK, Arason, A, Bane, A, Simard, J, Soucy, P, Caligo, MA, Mai, PL, Claes, KBM, Teixeira, MR, Chung, WK, Lazaro, C, Hulick, PJ, Toland, AE, Pedersen, IS, Neuhausen, SL, Vega, A, de la Hoya, M, Nevanlinna, H, Dhawan, M, Zampiga, V, Danesi, R, Varesco, L, Gismondi, V, Vellone, VG, James, PA, Janavicius, R, Nikitina-Zake, L, Nielsen, FC, van Overeem Hansen, T, Pejovic, T, Borg, A, Rantala, J, Offit, K, Montagna, M, Nathanson, KL, Domchek, SM, Osorio, A, Garcia, MJ, Karlan, BY, De Fazio, A, Bowtell, D, McGuffog, L, Leslie, G, Parsons, MT, Doerk, T, Speith, L-M, dos Santos, ES, da Costa, AABA, Radice, P, Peterlongo, P, Papi, L, Engel, C, Hahnen, E, Schmutzler, RK, Wappenschmidt, B, Easton, DF, Tischkowitz, M, Singer, CF, Tan, YY, Whittemore, AS, Sieh, W, Brenton, JD, Yannoukakos, D, Fostira, F, Konstantopoulou, I, Soukupova, J, Vocka, M, Chenevix-Trench, G, Pharoah, PDP, Antoniou, AC, Goldgar, DE, Spurdle, AB, Michailidou, K, Mourits, MJE, and Lesueur, F
Abstract: BACKGROUND: The distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers. In this study, we assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and BRCA2 variant pathogenicity, for application using the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) variant classification system. METHODS: Data for 10,373 ovarian cancer cases, including carriers and non-carriers of BRCA1 or BRCA2 pathogenic variants, were collected from unpublished international cohorts and consortia and published studies. Likelihood ratios (LR) were calculated for the association of ovarian cancer histology and other characteristics, with BRCA1 and BRCA2 variant pathogenicity. Estimates were aligned to ACMG/AMP code strengths (supporting, moderate, strong). RESULTS: No histological subtype provided informative ACMG/AMP evidence in favour of BRCA1 and BRCA2 variant pathogenicity. Evidence against variant pathogenicity was estimated for the mucinous and clear cell histologies (supporting) and borderline cases (moderate). Refined associations are provided according to tumour grade, invasion and age at diagnosis. CONCLUSIONS: We provide detailed estimates for predicting BRCA1 and BRCA2 variant pathogenicity based on ovarian tumour characteristics. This evidence can be combined with other variant information under the ACMG/AMP classification system, to improve classification and carrier clinical management.
Published: 2023

39. Contralateral breast cancer risk in patients with breast cancer and a germline-BRCA1/2 pathogenic variant undergoing radiation.

Author: Barele, M. van, Akdeniz, D., Heemskerk-Gerritsen, B.A., Andrieu, N., Noguès, C., Asperen, C.J. van, Wevers, M.R., Ausems, M.G., Bock, G.H. de, Dommering, C.J., Gómez-García, E.B., Leeuwen, F.E. van, Mooij, T.M., Easton, D.F., Antoniou, A.C., Evans, D.G., Izatt, L., Tischkowitz, M., Frost, D., Brewer, C., Olah, E., Simard, J., Singer, C.F., Thomassen, M., Kast, K., Rhiem, K., Engel, C., Hoya, M. de la, Foretová, L., Jakubowska, A., Jager, Agnes, Sattler, M.G., Schmidt, M.K., Hooning, M.J., Barele, M. van, Akdeniz, D., Heemskerk-Gerritsen, B.A., Andrieu, N., Noguès, C., Asperen, C.J. van, Wevers, M.R., Ausems, M.G., Bock, G.H. de, Dommering, C.J., Gómez-García, E.B., Leeuwen, F.E. van, Mooij, T.M., Easton, D.F., Antoniou, A.C., Evans, D.G., Izatt, L., Tischkowitz, M., Frost, D., Brewer, C., Olah, E., Simard, J., Singer, C.F., Thomassen, M., Kast, K., Rhiem, K., Engel, C., Hoya, M. de la, Foretová, L., Jakubowska, A., Jager, Agnes, Sattler, M.G., Schmidt, M.K., and Hooning, M.J.
Abstract: Contains fulltext : 300004.pdf (Publisher’s version ) (Open Access), BACKGROUND: Radiation-induced secondary breast cancer (BC) may be a concern after radiation therapy (RT) for primary breast cancer (PBC), especially in young patients with germline (g)BRCA-associated BC who already have high contralateral BC (CBC) risk and potentially increased genetic susceptibility to radiation. We sought to investigate whether adjuvant RT for PBC increases the risk of CBC in patients with gBRCA1/2-associated BC. METHODS: The gBRCA1/2 pathogenic variant carriers diagnosed with PBC were selected from the prospective International BRCA1/2 Carrier Cohort Study. We used multivariable Cox proportional hazards models to investigate the association between RT (yes vs no) and CBC risk. We further stratified for BRCA status and age at PBC diagnosis (<40 and >40 years). Statistical significance tests were 2-sided. RESULTS: Of 3602 eligible patients, 2297 (64%) received adjuvant RT. Median follow-up was 9.6 years. The RT group had more patients with stage III PBC than the non-RT group (15% vs 3%, P < .001), received chemotherapy more often (81% vs 70%, P < .001), and received endocrine therapy more often (50% vs 35%, P < .001). The RT group had an increased CBC risk compared with the non-RT group (adjusted hazard ratio [HR] = 1.44; 95% confidence interval [CI] = 1.12 to 1.86). Statistical significance was observed in gBRCA2 (HR = 1.77; 95% CI = 1.13 to 2.77) but not in gBRCA1 pathogenic variant carriers (HR = 1.29; 95% CI = 0.93 to 1.77; P = .39 for interaction). In the combined gBRCA1/2 group, patients irradiated when they were younger than or older than 40 years of age at PBC diagnosis showed similar risks (HR = 1.38; 95% CI = 0.93 to 2.04 and HR = 1.56; 95% CI = 1.11 to 2.19, respectively). CONCLUSIONS: RT regimens minimizing contralateral breast dose should be considered in gBRCA1/2 pathogenic variant carriers.
Published: 2023

40. Outcomes or participation? : Experimentally testing competing sources of legitimacy for taxation

Author: Engel, C., Mittone, L., Morreale, Azzurra, Engel, C., Mittone, L., and Morreale, Azzurra
Abstract: Legitimacy may result from support for projects that a government implements. However, legitimacy may also result from the opportunity to participate in the selection process of projects. We tested the strength of these competing sources of legitimacy experimentally and their relationship. We find a straightforward effect of the former: the more projects a participant supports, the higher their taxes. Participants are also willing to pay for participation; if they have had a say, they pay higher taxes. Yet, most of this effect is actually instrumental: participants want participation to ensure that their taxes are used for purposes they deem acceptable.
Published: 2023
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41. Multicenter analytical performance evaluation of a fully automated anti-Müllerian hormone assay and reference interval determination

Author: Anckaert, E., Öktem, M., Thies, A., Cohen-Bacrie, M., Daan, N.M.P., Schiettecatte, J., Müller, C., Topcu, D., Gröning, A., Ternaux, F., Engel, C., Engelmann, S., and Milczynski, C.
Published: 2016
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42. BEST PRACTICES AND COMMON APPLICATIONS OF ULTRASOUND IN LOW-RESOURCE SETTINGS: A SCOPING REVIEW

Author: Avgoullas, K., primary, Giannakitsas, P., additional, Georgiadi, E., additional, Engel, C., additional, Zitarelli, M., additional, Spiliopoulos, S., additional, Platoni, K., additional, and Golemati, S., additional
Published: 2022
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43. United, but not uniform: Experimental evidence about risk taking in the family

Author: Engel, C.
Published: 2023

44. The PILOT optical alignment for its first flight

Author: Mot, B., Longval, Y., Bernard, J.-Ph., Ade, P., André, Y., Aumont, J., Bautista, L., Bray, N., deBernardis, P., Boulade, O., Bousquet, F., Bouzit, M., Buttice, V., Caillat, A., Chaigneau, M., Coudournac, C., Crane, B., Douchin, F., Doumayrou, E., Dubois, J.-P., Engel, C., Etcheto, P., Gélot, P., Griffin, M., Foenard, G., Grabarnik, S., Hargrave, P., Hughes, A., Laureijs, R., Lepennec, Y., Leriche, B., Maestre, S., Maffei, B., Mangilli, A., Martignac, J., Marty, C., Marty, W., Masi, S., Mirc, F., Misawa, R., Montel, J., Montier, L., Narbonne, J., Nicot, J-M., Pajot, F., Parot, G., Pérot, E., Pimentao, J., Pisano, G., Ponthieu, N., Ristorcelli, I., Rodriguez, L., Roudil, G., Saccoccio, M., Salatino, M., Savini, G., Stever, S., Simonella, O., Tapie, P., Tauber, J., Tibbs, C., Torre, J.-P., and Tucker, C.
Published: 2017
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45. The optical performance of the PILOT instrument from ground end-to-end tests

Author: Misawa, R., Bernard, J-Ph., Longval, Y., Ristorcelli, I., Ade, P., Alina, D., André, Y., Aumont, J., Bautista, L., de Bernardis, P., Boulade, O., Bousqet, F., Bouzit, M., Buttice, V., Caillat, A., Chaigneau, M., Charra, M., Crane, B., Douchin, F., Doumayrou, E., Dubois, J. P., Engel, C., Griffin, M., Foenard, G., Grabarnik, S., Hargrave, P., Hughes, A., Laureijs, R., Leriche, B., Maestre, S., Maffei, B., Marty, C., Marty, W., Masi, S., Montel, J., Montier, L., Mot, B., Narbonne, J., Pajot, F., Pérot, E., Pimentao, J., Pisano, G., Ponthieu, N., Rodriguez, L., Roudil, G., Salatino, M., Savini, G., Simonella, O., Saccoccio, M., Tauber, J., and Tucker, C.
Published: 2017
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46. Spatial autocorrelation analysis and the social Organisation of crop and herd management at Catalhoyuk

Author: Hodder, I, Bogaard, A, Engel, C, Pearson, J, and Wolfhagen, J
Subjects: Cultural Studies, History, Archeology
Abstract: This article uses spatial autocorrelation analysis in order to explore the social organisation of crop and herd management at the Neolithic site of Çatalhöyük in south-central Turkey. Evidence for spatial clustering across the settlement is sought at different scales (house, neighbourhood, radial wedge, sector, sub-mound) in the different periods of occupation from Early to Late. The data used are sheep carbon and nitrogen isotopes, densities of weed species in archaeobotanical assemblages and the densities of weed species in sheep dung. The results are interpreted in relation to existing work both on crop and herd management and consumption at Çatalhöyük and on the social organisation of the settlement. Complex nested and cross-cutting social groupings shared many aspects of production and consumption activities across the site resulting in limited spatial clustering of values. The impacts of taphonomic factors on these results are considered. Especially by the Late period of occupation at Çatalhöyük, there is some evidence of distinct labour and consumption organisation linked to houses and house groupings.
Published: 2022

47. Eye-tracking as a method for legal research

Author: Engel, C. and Rahal, R.
Abstract: Legal research is a repeat offender – in the best sense of the term – when it comes to making use of empirical and experimental methods borrowed from other disciplines. We anticipate that the field’s response to developments in eye-tracking research will be no different. Our aim is to aid legal researchers in the uptake of eye-tracking as a method to address questions related to cognitive processes involved in matters of law abidance, legal intervention, and the generation of new legal rules. We discuss methodological challenges of empiri-cally studying thinking and reasoning as the mechanisms underlying behavior, and introduce eye-tracking as our method of choice for obtaining high-resolution traces of visual attention. We delineate advantages and challenges of this methodological approach, and outline which concepts legal researchers can hope to measure with a toy example. We conclude by outlining some of the various research avenues in legal research for which we predict a benefit from adopting eye-tracking to their methodological toolbox.
Published: 2022

48. Syndromes avec malformations vasculaires cutanées hypertrophiques associés aux mutations du gène PIK3R1

Author: Engel, C., primary, Laeng, M., additional, Martel, J., additional, Piard, J., additional, Isidor, B., additional, Phan, A., additional, Boccara, O., additional, Bessis, D., additional, Morice-Picard, F., additional, Ott, H., additional, Guerot, A.M., additional, Mazereeuw-Hautier, J., additional, Maruani, A., additional, Puzenat, E., additional, Aubert, H., additional, Faivre, L., additional, Kuentz, P., additional, and Vabres, P., additional
Published: 2022
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49. Estimating the Disease Burden of Combat-Related Posttraumatic Stress Disorder in United States Veterans and Military Service Members

Author: Freed, M. C., Goldberg, R. K., Gore, K. L., Engel, C. C., Preedy, Victor R., editor, and Watson, Ronald R., editor
Published: 2010
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50. A Novel Design and Fabrication of Multichannel Microfluidic Impedance Spectroscopy Sensor for Intensive Electromagnetic Environment Application

Author: Schmidt, M.-P., Oseev, A., Engel, C., Brose, A., Aman, A., and Hirsch, S.
Published: 2014
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