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128 results on '"Szabo, C. I."'

1. High-precision measurements of $n=2\to n=1$ transition energies and level widths in He- and Be-like Argon Ions

Author

Machado, J., Szabo, C. I., Santos, J. P., Amaro, P., Guerra, M., Gumberidze, A., Bian, Guojie, Isac, J. M., Indelicato, P., and Szabó, C.

Subjects
Physics - Atomic Physics
Abstract

We performed a reference-free measurement of the transition energies of the $1s 2p\,^1P\_1\to 1s^2 \,^1S\_0$ line in He-like argon, and of the $1s 2s^2 2p\,^1P\_1\to 1s^2 2s^2\,^1S\_0$ line in Be-like argon ions. The highly-charged ions were produced in the plasma of an Electron-Cyclotron Resonance Ion Source. Both energy measurements were performed with an accuracy better than 3 parts in $10^6$, using a double flat-crystal spectrometer, without reference to any theoretical or experimental energy. The $1s 2s^2 2p\,^1P\_1\to 1s^2 2s^2\,^1S\_0$ transition measurement is the first reference-free measurement for this core-excited transition. The $1s 2p\,^1P\_1\to 1s^2 \,^1S\_0$ transition measurement confirms recent measurement performed at the Heidelberg Electron-Beam Ion Trap (EBIT). The width measurement in the He-like transition provides test of a purely radiative decay calculations. In the case of the Be-like argon transition, the width results from the sum of a radiative channel and three main Auger channels. We also performed Multiconfiguration Dirac-Fock (MCDF) calculations of transition energies and rates and have done an extensive comparison with theory and other experimental data. For both measurements reported here, we find agreement with the most recent theoretical calculations within the combined theoretical and experimental uncertainties.

Published
2018
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2. The proton radius puzzle

Author

Krauth, J. J., Schuhmann, K., Ahmed, M. Abdou, Amaro, F. D., Amaro, P., Biraben, F., Cardoso, J. M. R., Carvalho, M. L., Covita, D. S., Dax, A., Dhawan, S., Diepold, M., Fernandes, L. M. P., Franke, B., Galtier, S., Giesen, A., Gouvea, A. L., Götzfried, J., Graf, T., Guerra, M., Haack, J., Hänsch, T. W., Hildebrandt, M., Indelicato, P., Julien, L., Kirch, K., Knecht, A., Knowles, P., Kottmann, F., Bigot, E. -O. Le, Liu, Y. -W., Lopes, J. A. M., Ludhova, L., Machado, J., Monteiro, C. M. B., Mulhauser, F., Nebel, T., Nez, F., Rabinowitz, P., Rapisarda, E., Santos, J. M. F. dos, Santos, J. P., Schaller, L. A., Schwob, C., Szabo, C. I., Taqqu, D., Veloso, J. F. C. A., Voss, A., Weichelt, B., Willig, M., Pohl, R., and Antognini, A.

Subjects
Physics - Atomic Physics
Abstract

High-precision measurements of the proton radius from laser spectroscopy of muonic hydrogen demonstrated up to six standard deviations smaller values than obtained from electron-proton scattering and hydrogen spectroscopy. The status of this discrepancy, which is known as the proton radius puzzle will be discussed in this paper, complemented with the new insights obtained from spectroscopy of muonic deuterium., Comment: Moriond 2017 conference, 8 pages, 4 figures

Published
2017

3. A Reassessment of Absolute Energies of the X-ray L Lines of Lanthanide Metals

Author

Fowler, J. W., Alpert, B. K., Bennett, D. A., Doriese, W. B., Gard, J. D., Hilton, G. C., Hudson, L. T., Joe, Y. -I., Morgan, K. M., O'Neil, G. C., Reintsema, C. D., Schmidt, D. R., Swetz, D. S., Szabo, C. I., and Ullom., J. N.

Subjects
Physics - Instrumentation and Detectors
Abstract

We introduce a new technique for determining x-ray fluorescence line energies and widths, and we present measurements made with this technique of 22 x-ray L lines from lanthanide-series elements. The technique uses arrays of transition-edge sensors, microcalorimeters with high energy-resolving power that simultaneously observe both calibrated x-ray standards and the x-ray emission lines under study. The uncertainty in absolute line energies is generally less than 0.4 eV in the energy range of 4.5 keV to 7.5 keV. Of the seventeen line energies of neodymium, samarium, and holmium, thirteen are found to be consistent with the available x-ray reference data measured after 1990; only two of the four lines for which reference data predate 1980, however, are consistent with our results. Five lines of terbium are measured with uncertainties that improve on those of existing data by factors of two or more. These results eliminate a significant discrepancy between measured and calculated x-ray line energies for the terbium Ll line (5.551 keV). The line widths are also measured, with uncertainties of 0.6 eV or less on the full-width at half-maximum in most cases. These measurements were made with an array of approximately one hundred superconducting x- ray microcalorimeters, each sensitive to an energy band from 1 keV to 8 keV. No energy-dispersive spectrometer has previously been used for absolute-energy estimation at this level of accuracy. Future spectrometers, with superior linearity and energy resolution, will allow us to improve on these results and expand the measurements to more elements and a wider range of line energies., Comment: This version is the one accepted for publication in Metrologia

Published
2017
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4. Experiments towards resolving the proton charge radius puzzle

Author

Antognini, A., Schuhmann, K., Amaro, F. D., Amaro, P., Abdou-Ahmed, M., Biraben, F., Chen, T. -L., Covita, D. S., Dax, A. J., Diepold, M., Fernandes, L. M. P., Franke, B., Galtier, S., Gouvea, A. L., Götzfried, J., Graf, T., Hänsch, T. W., Hildebrandt, M., Indelicato, P., Julien, L., Kirch, K., Knecht, A., Kottmann, F., Krauth, J. J., Liu, Y. -W., Machado, J., Monteiro, C. M. B., Mulhauser, F., Nez, F., Santos, J. P., Santos, J. M. F. dos, Szabo, C. I., Taqqu, D., Veloso, J. F. C. A., Voss, A., Weichelt, B., and Pohl, R.

Subjects
Physics - Atomic Physics
Abstract

We review the status of the proton charge radius puzzle. Emphasis is given to the various experiments initiated to resolve the conflict between the muonic hydrogen results and the results from scattering and regular hydrogen spectroscopy., Comment: 9 pages, Few Body Systems FB21 conference

Published
2015
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5. A vacuum double-crystal spectrometer for reference-free highly charged ions X-ray spectroscopy

Author

Amaro, P., Szabo, C. I., Schlesser, S., Gumberidze, Alexandre, Kessler Jr, Ernest G., Henins, Albert, Bigot, E. -O. Le, Trassinelli, M., Isac, Jean-Michel, Travers, Pascal, Guerra, Mauro, Santos, J. P., and Indelicato, Paul

Subjects
Physics - Atomic Physics
Abstract

We have built a vacuum double crystal spectrometer, which coupled to an electron-cyclotron resonance ion source, allows to measure low-energy x-ray transitions in highly-charged ions with accuracies of the order of a few parts per million. We describe in detail the instrument and its performances. Furthermore, we present a few spectra of transitions in Ar$^{14+}$, Ar$^{15+}$ and Ar$^{16+}$. We have developed an ab initio simulation code that allows us to obtain accurate line profiles. It can reproduce experimental spectra with unprecedented accuracy. The quality of the profiles allows the direct determination of line width., Comment: 21 pages; Version 2

Published
2012

6. Analysis of X-ray spectra emitted from laser-produced plasmas of uranium

Author

Marques, J. P., Indelicato, Paul, Szabo, C. I., and Parente, F.

Subjects
Physics - Atomic Physics
Abstract

In this paper, we used the multiconfiguration Dirac-Fock method to generate theoretical X-ray spectra for Co-, Ni-, Cu-, Zn-, Ga-, Ge-, As-, Se-, Br-, Kr-, and Rb-like uranium ions. Using the distribution of these ions in a laser-produced plasma, for different plasma temperatures, we generate theoretical spectra, which are compared to experimental data.

Published
2009
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7. The Gbar project, or how does antimatter fall?

Author

Indelicato, Paul, Chardin, G., Grandemange, P., Lunney, D., Manea, V., Badertscher, A., Crivelli, P., Curioni, A., Marchionni, A., Rossi, B., Rubbia, A., Nesvizhevsky, V., Brook-Roberge, D., Comini, P., Debu, P., Dupré, P., Liszkay, L., Mansoulié, B., Pérez, P., Rey, J.-M., Reymond, B., Ruiz, N., Sacquin, Y., Vallage, B., Biraben, F., Cladé, P., Douillet, A., Dufour, G., Guellati, S., Hilico, L., Lambrecht, A., Guérout, R., Karr, J.-P., Nez, F., Reynaud, S., Szabo, C. I., Tran, V.-Q., Trapateau, J., Mohri, A., Yamazaki, Y., Charlton, M., Eriksson, S., Madsen, N., van der Werf, D.P., Kuroda, N., Torii, H., Nagashima, Y., Schmidt-Kaler, F., Walz, J., Wolf, S., Hervieux, P.-A., Manfredi, G., Voronin, A., Froelich, P., Wronka, S., and Staszczak, M.

Published
2014
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10. Experiments towards resolving the proton charge radius puzzle

Author

Antognini A., Schuhmann K., Amaro F. D., Amaro P., Abdou-Ahmed M., Biraben F., Chen T.-L., Covita D. S., Dax A. J., Diepold M., Fernandes L. M. P., Franke B., Galtier S., Gouvea A. L., Götzfried J., Graf T., Hänsch T. W., Hildebrandt M., Indelicato P., Julien L., Kirch K., Knecht A., Kottmann F., Krauth J. J., Liu Y.-W., Machado J., Monteiro C. M. B., Mulhauser F., Nez F., Santos J. P., dos Santos J. M. F., Szabo C. I., Taqqu D., Veloso J. F. C. A., Voss A., Weichelt B., and Pohl R.

Subjects
Physics, QC1-999
Abstract

We review the status of the proton charge radius puzzle. Emphasis is given to the various experiments initiated to resolve the conflict between the muonic hydrogen results and the results from scattering and regular hydrogen spectroscopy.

Published
2016
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11. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Author

Zhang, H. (Haoyu), Ahearn, T. U. (Thomas U.), Lecarpentier, J. (Julie), Barnes, D. (Daniel), Beesley, J. (Jonathan), Qi, G. (Guanghao), Hang, X. (Xia), O'Mara, T. A. (Tracy A.), Zhao, N. (Ni), Bolla, M. K. (Manjeet K.), Dunning, A. M. (Alison M.), Dennis, J. (Joe), Wang, Q. (Qin), Abu Ful, Z. (Zumuruda), Aittomaki, K. (Kristiina), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Arun, B. K. (Banu K.), Auer, P. L. (Paul L.), Azzollini, J. (Jacopo), Barrowdale, D. (Daniel), Becher, H. (Heiko), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bialkowska, K. (Katarzyna), Blanco, A. (Ana), Blomqvist, C. (Carl), Bogdanova, N. V. (Natalia, V), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Bondavalli, D. (Davide), Borg, A. (Ake), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Briceno, I. (Ignacio), Broeks, A. (Annegien), Brucker, S. Y. (Sara Y.), Bruening, T. (Thomas), Burwinkel, B. (Barbara), Buys, S. S. (Saundra S.), Byers, H. (Helen), Caldes, T. (Trinidad), Caligo, M. A. (Maria A.), Calvello, M. (Mariarosaria), Campa, D. (Daniele), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Christiaens, M. (Melissa), Christiansen, H. (Hans), Chung, W. K. (Wendy K.), Claes, K. B. (Kathleen B. M.), Clarke, C. L. (Christine L.), Cornelissen, S. (Sten), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Diez, O. (Orland), Domchek, S. M. (Susan M.), Doerk, T. (Thilo), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Foretova, L. (Lenka), Fostira, F. (Florentia), Friedman, E. (Eitan), Frost, D. (Debra), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garber, J. (Judy), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), Gayther, S. A. (Simon A.), Giles, G. G. (Graham G.), Godwin, A. K. (Andrew K.), Goldberg, M. S. (Mark S.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Greene, M. H. (Mark H.), Gronwald, J. (Jacek), Guenel, P. (Pascal), Haeberle, L. (Lothar), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hake, C. R. (Christopher R.), Hall, P. (Per), Hamann, U. (Ute), Harkness, E. F. (Elaine F.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Hillemanns, P. (Peter), Hogervorst, F. B. (Frans B. L.), Holleczek, B. (Bernd), Hollestelle, A. (Antoinette), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Howell, A. (Anthony), Huebner, H. (Hanna), Hulick, P. J. (Peter J.), Imyanitov, E. N. (Evgeny N.), Isaacs, C. (Claudine), Izatt, L. (Louise), Jager, A. (Agnes), Jakimovska, M. (Milena), Jakubowska, A. (Anna), James, P. (Paul), Janavicius, R. (Ramunas), Janni, W. (Wolfgang), John, E. M. (Esther M.), Jones, M. E. (Michael E.), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kapoor, P. M. (Pooja Middha), Karlan, B. Y. (Beth Y.), Keeman, R. (Renske), Khan, S. (Sofia), Khusnutdinova, E. (Elza), Kitahara, C. M. (Cari M.), Ko, Y.-D. (Yon-Dschun), Konstantopoulou, I. (Irene), Koppert, L. B. (Linetta B.), Koutros, S. (Stella), Kristensen, V. N. (Vessela N.), Laenkholm, A.-V. (Anne-Vibeke), Lambrechts, D. (Diether), Larsson, S. C. (Susanna C.), Laurent-Puig, P. (Pierre), Lazaro, C. (Conxi), Lazarova, E. (Emilija), Lejbkowicz, F. (Flavio), Leslie, G. (Goska), Lesueur, F. (Fabienne), Lindblom, A. (Annika), Lissowska, J. (Jolanta), Lo, W.-Y. (Wing-Yee), Loud, J. T. (Jennifer T.), Lubinski, J. (Jan), Lukomska, A. (Alicja), Maclnnis, R. J. (Robert J.), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martinez, M. E. (Maria Elena), Matricardi, L. (Laura), McGuffog, L. (Lesley), McLean, C. (Catriona), Mebirouk, N. (Noura), Meindl, A. (Alfons), Menon, U. (Usha), Miller, A. (Austin), Mingazheva, E. (Elvira), Montagna, M. (Marco), Mulligan, A. M. (Anna Marie), Mulot, C. (Claire), Muranen, T. A. (Taru A.), Nathanson, K. L. (Katherine L.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Neven, P. (Patrick), Newman, W. G. (William G.), Nielsens, F. C. (Finn C.), Nikitina-Zake, L. (Liene), Nodora, J. (Jesse), Offit, K. (Kenneth), Olah, E. (Edith), Olopade, O. I. (Olufunmilayo, I), Olsson, H. (Hakan), Orr, N. (Nick), Papi, L. (Laura), Papp, J. (Janos), Park-Simon, T.-W. (Tjoung-Won), Parsons, M. T. (Michael T.), Peissel, B. (Bernard), Peixoto, A. (Ana), Peshkin, B. (Beth), Peterlongo, P. (Paolo), Peto, J. (Julian), Phillips, K.-A. (Kelly-Anne), Piedmonte, M. (Marion), Plaseska-Karanfilska, D. (Dijana), Prajzendanc, K. (Karolina), Prentice, R. (Ross), Prokofyeva, D. (Darya), Rack, B. (Brigitte), Radice, P. (Paolo), Ramus, S. J. (Susan J.), Rantala, J. (Johanna), Rashid, M. U. (Muhammad U.), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Risch, H. A. (Harvey A.), Romero, A. (Atocha), Rookus, M. A. (Matti A.), Ruebner, M. (Matthias), Ruediger, T. (Thomas), Saloustros, E. (Emmanouil), Sampson, S. (Sarah), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Scheuner, M. T. (Maren T.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), Schoettker, B. (Ben), Schuermann, P. (Peter), Senter, L. (Leigha), Sharma, P. (Priyanka), Sherman, M. E. (Mark E.), Shu, X.-O. (Xiao-Ou), Singer, C. F. (Christian F.), Smichkoska, S. (Snezhana), Soucy, P. (Penny), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Stone, J. (Jennifer), Stoppa-Lyonnet, D. (Dominique), Swerdlow, A. J. (Anthony J.), Szabo, C. I. (Csilla, I), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Teixeira, M. R. (Manuel R.), Terry, M. (MaryBeth), Thomassen, M. (Mads), Thull, D. L. (Darcy L.), Tischkowitz, M. (Marc), Toland, A. E. (Amanda E.), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Torres, D. (Diana), Troester, M. A. (Melissa A.), Truong, T. (Therese), Tung, N. (Nadine), Untch, M. (Michael), Vachon, C. M. (Celine M.), van den Ouweland, A. M. (Ans M. W.), van der Kolk, L. E. (Lizet E.), van Veen, E. M. (Elke M.), vanRensburg, E. J. (Elizabeth J.), Vega, A. (Ana), Wappenschmidt, B. (Barbara), Weinberg, C. R. (Clarice R.), Weitzel, J. N. (Jeffrey N.), Wildiers, H. (Hans), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Yannoukakos, D. (Drakoulis), Zheng, W. (Wei), Zorn, K. K. (Kristin K.), Milne, R. L. (Roger L.), Kraft, P. (Peter), Simard, J. (Jacques), Pharoah, P. D. (Paul D. P.), Michailidou, K. (Kyriaki), Antoniou, A. C. (Antonis C.), Schmidt, M. K. (Marjanka K.), Chenevix-Trench, G. (Georgia), Easton, D. F. (Douglas F.), Chatterjee, N. (Nilanjan), and Garcia-Closas, M. (Montserrat)

Abstract

Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P

Published
2020

12. Reference-free measurements of the $1s2s2p$$^{2}P^{0}_{1/2,3/2}$$\rightarrow1s^{2}2s$$^{2}S_{1/2}$ and $1s2s2p$ $^{4}P_{5/2}$$\rightarrow$$1s^{2}2s^{2}S_{1/2}$ transition energies and widths in lithiumlike sulfur and argon ions

Author

Machado, J., Bian, Guojie, Paul, Nancy, Trassinelli, M., Amaro, P., Guerra, M., Szabo, C. I., Gumberidze, Alexandre, Isac, J. M., Santos, J. P., Desclaux, J. P., and Indelicato, P.

Subjects
ddc:530
Abstract

Physical review / A covering atomic, molecular, and optical physics and quantum information 101(6), 062505 (2020). doi:10.1103/PhysRevA.101.062505, Published by Inst., Woodbury, NY

Published
2020
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14. Reference-free measurements of the 1s2s2p2P1/2,3/2o→1s22s2S1/2 and 1s2s2p4P5/2→1s22s2S1/2 transition energies and widths in lithiumlike sulfur and argon ions

Author

Machado, J., primary, Bian, Guojie, additional, Paul, Nancy, additional, Trassinelli, M., additional, Amaro, P., additional, Guerra, M., additional, Szabo, C. I., additional, Gumberidze, A., additional, Isac, J. M., additional, Santos, J. P., additional, Desclaux, J. P., additional, and Indelicato, P., additional

Published
2020
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15. Accurate VUV Laboratory Measurements of Fe III Transitions for Astrophysical Applications

Author

Blackwell-Whitehead, R. J, Pickering, J. C, Smillie, D, Nave, G, Szabo, C. I, Smith, Peter L, Nielsen, K. E, and Peters, G

Subjects
Astrophysics
Abstract

We report preliminary measurements of Fe III spectra in the 1150 to 2500 A wavelength interval. Spectra have been recorded with an iron-neon Penning discharge lamp (PDL) between 1600 and 2500 A at Imperial College (IC) using high resolution Fourier (FT) transform spectroscopy. These FT spectrometer measurements were extended beyond 1600 A to 1150 A using high-resolution grating spectroscopy at the National Institute of Standards and Technology (NIST). These recorded spectra represent the first radiometrically calibrated measurements of a doubly-ionized iron-group element spectrum combining the techniques of vacuum ultraviolet FT and grating spectroscopy. The spectral range of the new laboratory measurements corresponds to recent HST/STIS observations of sharp-lined B stars and of Eta Carinae. The new improved atomic data can be applied to abundance studies and diagnostics of astrophysical plasmas.

Published
2006

16. High-precision measurements of n=2→n=1 transition energies and level widths in He-and Be-like argon ions

Author

Machado, J., Szabo, C. I., Santos, J. P., Amaro, P., Guerra, Mauro, Gumberidze, A., Bian, Guojie, Isac, J. M., Indelicato, P., LIBPhys-UNL, and DF – Departamento de Física

Subjects
ELECTRON SELF-ENERGY, HELIUM-LIKE IONS, MULTICONFIGURATION DIRAC-FOCK, STRONG COULOMB FIELD, RELATIVISTIC MANY-BODY, X-RAY TRANSITIONS, DIELECTRONIC SATELLITE SPECTRUM, K-ALPHA TRANSITIONS, CONFIGURATION-INTERACTION CALCULATIONS, HIGH-RESOLUTION SPECTROSCOPY, Atomic and Molecular Physics, and Optics
Abstract

This research was supported in part by Projects No. PEstOE/FIS/UI0303/2011 and No. PTDC/FIS/117606/2010, and by research center Grant No. UID/FIS/04559/2013 (LIB-Phys), from FCT/MCTES/PIDDAC, Portugal. We acknowledge partial support from NIST (P.I.), from PESSOA Huber Curien Program No. 38028UD, and PAUILF Program No. 2017-C08. P.A., J.M., and M.G. acknowledge support from FCT under Contracts No. SFRH/BPD/92329/2013, No. SFRH/BD/52332/2013, and No. SFRH/BPD/92455/2013, respectively. Laboratoire Kastler Brossel (LKB) is "Unite Mixte de Recherche de Sorbonne Universite, de ENS-PSL Research University, du College de France et du CNRS No. 8552." P.I. is a member of the Allianz Program of the Helmholtz Association, Contract No. EMMI HA-216 "Extremes of Density and Temperature: Cosmic Matter in the Laboratory." The SIMPA ECRIS has been financed by grants from CNRS, MESR, and University Pierre and Marie Curie (now Sorbonne Universite). The experiment has been supported by BNM Grant No. 0130002 and ANR Grant No. ANR-06-BLAN-0223. We wish to thank Jean-Paul Desclaux for his help improving the MCDFGME code, and Dr. Martino Trassinelli (INSP) for valuable discussions and his help during early stages of the experiment. We performed a reference-free measurement of the transition energies of the 1s2p1P1→1s21S0 line in He-like argon, and of the 1s2s22p1P1→1s22s21S0 line in Be-like argon ions. The highly charged ions were produced in the plasma of an electron-cyclotron resonance ion source. Both energy measurements were performed with an accuracy better than 3 parts in 106, using a double flat-crystal spectrometer, without reference to any theoretical or experimental energy. The 1s2s22p1P1→1s22s21S0 transition measurement is the first reference-free measurement for this core-excited transition. The 1s2p1P1→1s21S0 transition measurement confirms recent measurement performed at the Heidelberg electron-beam ion trap. The width measurement in the He-like transition provides test of a purely radiative decay calculation. In the case of the Be-like argon transition, the width results from the sum of a radiative channel and three main Auger channels. We also performed multiconfiguration Dirac-Fock calculations of transition energies and rates and have done an extensive comparison with theory and other experimental data. For both measurements reported here, we find agreement with the most recent theoretical calculations within the combined theoretical and experimental uncertainties. publishersversion published

Published
2018

17. Wavelength-dispersive spectroscopy in the hard x-ray regime of a heavy highly-charged ion: the 1 s Lamb shift in hydrogen-like gold

Author

Gassner, T., Trassinelli, M., Heß, R., Spillmann, U., Banaś, D., Blumenhagen, K-H, Bosch, F., Brandau, C., Chen, W., Dimopoulou, Christina, Förster, E., Grisenti, R. E., Gumberidze, A., Hagmann, S., Hillenbrand, P-M, Indelicato, P., Jagodzinski, P., Kämpfer, T., Kozhuharov, Christophor, Lestinsky, M., Liesen, D., Litvinov, Yu A, Loetzsch, R., Manil, B., Märtin, R., Nolden, F., Petridis, N., Sanjari, M. S., Schulze, K. S., Schwemlein, M., Simionovici, A., Steck, M., Stöhlker, Thomas, Szabo, C. I., Trotsenko, S., Uschmann, I., Weber, G., Wehrhan, O., Winckler, N., Winters, Danyal, Winters, N., Ziegler, E., and Beyer, Heinrich

Abstract

New journal of physics 20(7), 073033 (2018). doi:10.1088/1367-2630/aad01d, Published by Dt. Physikalische Ges., [Bad Honnef]

Published
2018
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18. Measurements of linear polarization of satellite transitions from Li- and Be-like Ar ions.

Author

Gall, A C, Dipti, Buechele, S W, Sanders, S, Szabo, C I, Silwal, R, Ralchenko, Yu, Brickhouse, N, and Takacs, E

Subjects
LINEAR polarization, LENGTH measurement, ION recombination, ELECTRON beams, ION bombardment, ION traps, LITHIUM ions, ELECTRON distribution
Abstract

Non-thermal electron distributions, such as beams of electrons, are found in many laboratory and astrophysical plasma sources and can produce anisotropic and polarized emission. Theories used to model the emission require sublevel specific analysis, which can be difficult to verify experimentally. Using two polarization-sensitive Johann-type crystal spectrometers at the National Institute of Standards and Technology (NIST) electron beam ion trap facility, we measured the linear polarization of well-known dielectronic recombination satellite transitions from Li-like Ar ions and two blended features from Be-like ions. The spectrometers observed the plasma at 90° relative to the electron beam propagation direction, and the crystal dispersion planes were oriented perpendicular relative to each other to allow for differing polarization sensitivities. Measurements were taken near the resonance energies of each line and compared with theoretical predictions based on relativistic magnetic sublevel atomic kinetics using the density-matrix theory. Most of the predictions are in excellent agreement with measured values. [ABSTRACT FROM AUTHOR]

Published
2020
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19. Linear polarization of anisotropically excited x-ray lines from the n = 2 complex in He-like Ar16+.

Author

Dipti, Buechele, S W, Gall, A C, Sanders, S, Szabo, C I, Silwal, R, Takacs, E, and Ralchenko, Yu

Subjects
CHARGE exchange, ION bombardment, ION traps, X-ray spectra, ANALYTICAL mechanics, LINEAR polarization, ELECTRON beams, MAGNETIC nanoparticles
Abstract

High-resolution x-ray spectra were recorded at the National Institute of Standards and Technology electron beam ion trap (EBIT) using two Johann-type crystal spectrometers, with their dispersion planes oriented parallel and perpendicular to the beam direction. The linear polarizations of the 1s2 − 1s2l transitions in He-like argon ions were determined from the measured spectra at electron beam energies of 3.87 and 7.91 keV. The theoretical analysis was performed using detailed collisional-radiative modeling of the non-Maxwellian EBIT plasma with the NOMAD code modified to account for magnetic sublevel atomic kinetics. Effects influencing the polarizations of the observed 1s2 − 1s2l lines were investigated, including radiative cascades, the 1s21S0 − 1s2s1S0 two-photon transition, and the charge exchange recombination of H-like argon ions. With these included, the measured polarizations of the resonance (1s21S0 − 1s2p1P1), intercombination (1s21S0 − 1s2p3P1), and forbidden lines (1s21S0 − 1s2s3S1, 1s21S0 − 1s2p3P2) were found to be in good agreement with the calculations. [ABSTRACT FROM AUTHOR]

Published
2020
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20. Wavelength-dispersive spectroscopy in the hard x-ray regime of a heavy highly-charged ion: the 1s Lamb shift in hydrogen-like gold

Author

Gassner, T, primary, Trassinelli, M, additional, Heß, R, additional, Spillmann, U, additional, Banaś, D, additional, Blumenhagen, K-H, additional, Bosch, F, additional, Brandau, C, additional, Chen, W, additional, Dimopoulou, Chr, additional, Förster, E, additional, Grisenti, R E, additional, Gumberidze, A, additional, Hagmann, S, additional, Hillenbrand, P-M, additional, Indelicato, P, additional, Jagodzinski, P, additional, Kämpfer, T, additional, Kozhuharov, Chr, additional, Lestinsky, M, additional, Liesen, D, additional, Litvinov, Yu A, additional, Loetzsch, R, additional, Manil, B, additional, Märtin, R, additional, Nolden, F, additional, Petridis, N, additional, Sanjari, M S, additional, Schulze, K S, additional, Schwemlein, M, additional, Simionovici, A, additional, Steck, M, additional, Stöhlker, Th, additional, Szabo, C I, additional, Trotsenko, S, additional, Uschmann, I, additional, Weber, G, additional, Wehrhan, O, additional, Winckler, N, additional, Winters, D F A, additional, Winters, N, additional, Ziegler, E, additional, and Beyer, H F, additional

Published
2018
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22. A reassessment of absolute energies of the x-ray L lines of lanthanide metals

Author

Fowler, J W, primary, Alpert, B K, additional, Bennett, D A, additional, Doriese, W B, additional, Gard, J D, additional, Hilton, G C, additional, Hudson, L T, additional, Joe, Y-I, additional, Morgan, K M, additional, O’Neil, G C, additional, Reintsema, C D, additional, Schmidt, D R, additional, Swetz, D S, additional, Szabo, C I, additional, and Ullom, J N, additional

Published
2017
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23. FOCAL - precision x-ray spectroscopy for extreme fields in high-z ions

Author

Beyer, Heinrich, Banas, D., Hagmann, S., Heß, R., Hillenbrand, P.-M., Indelicato, P., Jagodzinski, P., Kämpfer, T., Kozhuharov, C., Lestinsky, M., Liesen, D., Litvinov, Yury, Blumenhagen, K.-H., Loetzsch, R., Manil, B., Märtin, R., Nolden, F., Petridis, N., Sanjari, M. S., Schulze, K. S., Schwemlein, M., Simionovici, A., Spillmann, U., Bosch, F., Steck, M., Stöhlker, T., Szabo, C. I., Trassinelli, M., Trotsenko, S., Uschmann, I., Weber, G., Wehrhan, O., Winckler, N., Winters, D., Brandau, C., Winters, N., Ziegler, E., Chen, W., Dimopoulou, C., Förster, E., Gaßner, T., and Gumberidze, A.

Subjects
Physics
Abstract

GSI Scientific Report 2013 - GSI Report 2014-1

Published
2014
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24. Validation of modelled imaging plates sensitivity to 1-100 keV x-rays and spatial resolution characterisation for diagnostics for the “PETawatt Aquitaine Laser”

Author

Boutoux, G., primary, Batani, D., additional, Burgy, F., additional, Ducret, J.-E., additional, Forestier-Colleoni, P., additional, Hulin, S., additional, Rabhi, N., additional, Duval, A., additional, Lecherbourg, L., additional, Reverdin, C., additional, Jakubowska, K., additional, Szabo, C. I., additional, Bastiani-Ceccotti, S., additional, Consoli, F., additional, Curcio, A., additional, De Angelis, R., additional, Ingenito, F., additional, Baggio, J., additional, and Raffestin, D., additional

Published
2016
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25. Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

Author

Couch, Fergus J., Xianshu, Wang, Lesley, Mcguffog, Andrew, Lee, Curtis, Olswold, Kuchenbaecker, Karoline B., Penny, Soucy, Zachary, Fredericksen, Daniel, Barrowdale, Joe, Dennis, Gaudet, Mia M., Dicks, Ed, Matthew, Kosel, Sue, Healey, Sinilnikova, Olga M., Adam, Lee, François, Bacot, Daniel, Vincent, Hogervorst, Frans B. L., Susan, Peock, Dominique Stoppa Lyonnet, Anna, Jakubowska, Paolo, Radice, Rita Katharina Schmutzler, Domchek, S. M., Piedmonte, M., Singer, C. F., Friedman, E., Thomassen, M., Hansen, T. V. O., Neuhausen, S. L., Szabo, C. I., Blanco, I., Greene, M. H., Karlan, B. Y., Garber, J., Phelan, C. M., Weitzel, J. N., Montagna, M., Olah, E., Andrulis, I. L., Godwin, A. K., Yannoukakos, D., Goldgar, D. E., Caldes, T., Nevanlinna, H., Osorio, A., Terry, M. B., Daly, M. B., Van Rensburg, E. J., Hamann, U., Ramus, S. J., Ewart Toland, A., Caligo, M. A., Olopade, O. I., Tung, N., Claes, K., Beattie, M. S., Southey, M. C., Imyanitov, E. N., Tischkowitz, M., Janavicius, R., John, E. M., Kwong, A., Diez, O., Balmana, J., Barkardottir, R. B., Arun, B. K., Rennert, G., Teo, S. H., Ganz, P. A., Campbell, I., Van Der Hout, A. H., Van Deurzen, C. H. M., Seynaeve, C., Gomez Garcia, E. B., Van Leeuwen, F. E., Meijers Heijboer, H. E. J., Gille, J. J. P., Ausems, M. G. E. M., Blok, M. J., Ligtenberg, M. J. L., Rookus, M. A., Devilee, P., Verhoef, S., Van Os, T. A. M., Wijnen, J. T., Frost, D., Ellis, S., Fineberg, E., Platte, R., Evans, D. G., Izatt, L., Eeles, R. A., Adlard, J., Eccles, D. M., Cook, J., Brewer, C., Douglas, F., Hodgson, S., Morrison, P. J., Side, L. E., Donaldson, A., Houghton, C., Rogers, M. T., Dorkins, H., Eason, J., Gregory, H., Mccann, E., Murray, A., Calender, A., Hardouin, A., Berthet, P., Delnatte, C., Nogues, C., Lasset, C., Houdayer, C., Leroux, D., Rouleau, E., Prieur, F., Damiola, F., Sobol, H., Coupier, I., Venat Bouvet, L., Castera, L., Gauthier Villars, M., Leone, M., Pujol, P., Mazoyer, S., Bignon, Y. J., Zlowocka Perlowska, E., Gronwald, J., Lubinski, J., Durda, K., Jaworska, K., Huzarski, T., Spurdle, A. B., Viel, A., Peissel, B., Bonanni, B., Melloni, G., Ottini, Laura, Papi, L., Varesco, L., Tibiletti, M. G., Peterlongo, P., Volorio, S., Manoukian, S., Pensotti, V., Arnold, N., Engel, C., Deissler, H., Gadzicki, D., Gehrig, A., Kast, K., Rhiem, K., Meindl, A., Niederacher, D., Ditsch, N., Plendl, H., Preisler Adams, S., Engert, S., Sutter, C., Varon Mateeva, R., Wappenschmidt, B., Weber, B. H. F., Arver, B., Stenmark Askmalm, M., Loman, N., Rosenquist, R., Einbeigi, Z., Nathanson, K. L., Rebbeck, T. R., Blank, S. V., Cohn, D. E., Rodriguez, G. C., Small, L., Friedlander, M., Bae Jump, V. L., Fink Retter, A., Rappaport, C., Gschwantler Kaulich, D., Pfeiler, G., Tea, M. K., Lindor, N. M., Kaufman, B., Shimon Paluch, S., Laitman, Y., Skytte, A. B., Gerdes, A. M., Pedersen, I. S., Moeller, S. T., Kruse, T. A., Jensen, U. B., Vijai, J., Sarrel, K., Robson, M., Kauff, N., Mulligan, A. M., Glendon, G., Ozcelik, H., Ejlertsen, B., Nielsen, F. C., Jonson, L., Andersen, M. K., Ding, Y. C., Steele, L., Foretova, L., Teule, A., Lazaro, C., Brunet, J., Pujana, M. A., Mai, P. L., Loud, J. T., Walsh, C., Lester, J., Orsulic, S., Narod, S. A., Herzog, J., Sand, S. R., Tognazzo, S., Agata, S., Vaszko, T., Weaver, J., Stavropoulou, A. V., Buys, S. S., Romero, A., De La Hoya, M., Aittomaki, K., Muranen, T. A., Duran, M., Chung, W. K., Lasa, A., Dorfling, C. M., Miron, A., Benitez, J., Senter, L., Huo, D., Chan, S. B., Sokolenko, A. P., Chiquette, J., Tihomirova, L., Friebel, T. M., Agnarsson, B. A., K. H., Lu, Lejbkowicz, F., James, P. A., Hall, P., Dunning, A. M., Tessier, D., Cunningham, J., Slager, S. L., Wang, C., Hart, S., Stevens, K., Simard, J., Pastinen, T., Pankratz, V. S., Offit, K., Easton, D. F., Chenevix Trench, G., Antoniou, A. C., Thorne, H., Niedermayr, E., Borg, A., Olsson, H., Jernstrom, H., Henriksson, K., Harbst, K., Soller, M., Kristoffersson, U., Ofverholm, A., Nordling, M., Karlsson, P., Von Wachenfeldt, A., Liljegren, A., Lindblom, A., Bustinza, G. B., Rantala, J., Melin, B., Ardnor, C. E., Emanuelsson, M., Ehrencrona, H., Pigg, M. H., Liedgren, S., Hogervorst, F. B. L., Schmidt, M. K., De Lange, J., Collee, J. M., Van Den Ouweland, A. M. W., Hooning, M. J., Van Asperen, C. J., Tollenaar, R. A., Van Cronenburg, T. C. T. E. F., Kets, C. M., Mensenkamp, A. R., Van Der Luijt, R. B., Aalfs, C. M., Waisfisz, Q., Oosterwijk, J. C., Van Der Hout, H., Mourits, M. J., De Bock, G. H., Peock, S., Miedzybrodzka, Z., Morrison, P., Jeffers, L., Cole, T., Ong, K. R., Hoffman, J., James, M., Paterson, J., Taylor, A., Kennedy, M. J., Barton, D., Porteous, M., Drummond, S., Kivuva, E., Searle, A., Goodman, S., Hill, K., Davidson, R., Murday, V., Bradshaw, N., Snadden, L., Longmuir, M., Watt, C., Gibson, S., Haque, E., Tobias, E., Duncan, A., Jacobs, C., Langman, C., Brady, A., Melville, A., Randhawa, K., Barwell, J., Serra Feliu, G., Ellis, I., Lalloo, F., Taylor, J., Side, L., Male, A., Berlin, C., Collier, R., Claber, O., Jobson, I., Walker, L., Mcleod, D., Halliday, D., Durell, S., Stayner, B., Shanley, S., Rahman, N., Houlston, R., Stormorken, A., Bancroft, E., Page, E., Ardern Jones, A., Kohut, K., Wiggins, J., Castro, E., Killick, E., Martin, S., Rea, G., Kulkarni, A., Quarrell, O., Bardsley, C., Goff, S., Brice, G., Winchester, L., Eddy, C., Tripathi, V., Attard, V., Lehmann, A., Eccles, D., Lucassen, A., Crawford, G., Mcbride, D., Smalley, S., Sinilnikova, O., Barjhoux, L., Verny Pierre, C., Giraud, S., Stoppa Lyonnet, D., Buecher, B., Moncoutier, V., Belotti, M., Tirapo, C., De Pauw, A., Bressac De Paillerets, B., Caron, O., Uhrhammer, N., Bonadona, V., Handallou, S., Bourdon, V., Noguchi, T., Remenieras, A., Eisinger, F., Peyrat, J. P., Fournier, J., Revillion, F., Vennin, P., Adenis, C., Lidereau, R., Demange, L., Muller, D., Fricker, J. P., Barouk Simonet, E., Bonnet, F., Bubien, V., Sevenet, N., Longy, M., Toulas, C., Guimbaud, R., Gladieff, L., Feillel, V., Dreyfus, H., Rebischung, C., Peysselon, M., Coron, F., Faivre, L., Lebrun, M., Kientz, C., Ferrer, S. F., Frenay, M., Mortemousque, I., Coulet, F., Colas, C., Soubrier, F., Sokolowska, J., Bronner, M., Lynch, H. T., Snyder, C. L., Angelakos, M., Maskiell, J., Dite, G., MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - School for Oncology and Reproduction, Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), 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-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire Kastler Brossel (LKB (Jussieu)), Fédération de recherche du Département de physique de l'Ecole Normale Supérieure - ENS Paris (FRDPENS), École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Institut de biologie et chimie des protéines [Lyon] (IBCP), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Generalitat de Catalunya, Asociación Española Contra el Cáncer, Fundación Ramón Areces, Instituto de Salud Carlos III, Clinical Genetics, Pathology, Medical Oncology, Pediatric Surgery, Department of Obstetrics and Gynecology, Clinicum, Department of Medical and Clinical Genetics, HUS Gynecology and Obstetrics, Epidemiology and Data Science, Human genetics, CCA - Oncogenesis, Universitat de Barcelona, Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Fédération de recherche du Département de physique de l'Ecole Normale Supérieure - ENS Paris (FRDPENS), École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), CCA -Cancer Center Amsterdam, ARD - Amsterdam Reproduction and Development, and Human Genetics

Subjects
SELECTION, Oncology, Cancer Research, Medicin och hälsovetenskap, endocrine system diseases, [SDV]Life Sciences [q-bio], 610 Medizin, Càncer d'ovari, SUSCEPTIBILITY ALLELES, MODIFIERS, ComputingMilieux_LEGALASPECTSOFCOMPUTING, Genome-wide association study, QH426-470, Medical and Health Sciences, SUBTYPES, Breast cancer, 0302 clinical medicine, Human genetics, 3123 Gynaecology and paediatrics, Risk Factors, GENETIC-VARIANTS, Genotype, Naturvetenskap, Malalties hereditàries, INVESTIGATORS, skin and connective tissue diseases, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), POPULATION, Ovarian Neoplasms, Genetics, Subtypes, ddc:610, 0303 health sciences, education.field_of_study, Genètica humana, Susceptibility alleles, BRCA1 Protein, COMMON VARIANTS, Breast Cancer Epidemiology, Middle Aged, Prognosis, BRCA2 Protein, 3. Good health, 030220 oncology & carcinogenesis, Female, Natural Sciences, Genetic diseases, Heterozygote, medicine.medical_specialty, Znf365, education, 3122 Cancers, Population, Breast Neoplasms, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Càncer de mama, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Ovarian cancer, Translational research [ONCOL 3], Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Genetics and epigenetic pathways of disease Translational research [NCMLS 6], Molecular Biology, Selection, ddc:614, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Hereditary cancer and cancer-related syndromes [ONCOL 1], Common variants, CONSORTIUM, Modifiers, Biology and Life Sciences, BRCA1, medicine.disease, R1, Genetic-variants, Cancer and Oncology, Mutation, Investigators, 3111 Biomedicine, ZNF365, Consortium, Genome-Wide Association Study
Abstract

This is an open-access article distributed under the terms of the Creative Commons Attribution License.-- CIMBA et al., BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7 × 10(-8), HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4 × 10(-8), HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4 × 10(-8), HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific association. The 17q21.31 locus was also associated with ovarian cancer risk in 8,211 BRCA2 carriers (P = 2×10(-4)). These loci may lead to an improved understanding of the etiology of breast and ovarian tumors in BRCA1 carriers. Based on the joint distribution of the known BRCA1 breast cancer risk-modifying loci, we estimated that the breast cancer lifetime risks for the 5% of BRCA1 carriers at lowest risk are 28%-50% compared to 81%-100% for the 5% at highest risk. Similarly, based on the known ovarian cancer risk-modifying loci, the 5% of BRCA1 carriers at lowest risk have an estimated lifetime risk of developing ovarian cancer of 28% or lower, whereas the 5% at highest risk will have a risk of 63% or higher. Such differences in risk may have important implications for risk prediction and clinical management for BRCA1 carriers., The study was supported by NIH grant CA128978, an NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), a U.S. Department of Defense Ovarian Cancer Idea award (W81XWH-10-1-0341), grants from the Breast Cancer Research Foundation and the Komen Foundation for the Cure; Cancer Research UK grants C12292/A11174 and C1287/A10118; the European Commission's Seventh Framework Programme grant agreement 223175 (HEALTH-F2-2009-223175). Breast Cancer Family Registry Studies (BCFR): supported by the National Cancer Institute, National Institutes of Health under RFA # CA-06-503 and through cooperative agreements with members of the Breast Cancer Family Registry (BCFR) and Principal Investigators, including Cancer Care Ontario (U01 CA69467), Cancer Prevention Institute of California (U01 CA69417), Columbia University (U01 CA69398), Fox Chase Cancer Center (U01 CA69631), Huntsman Cancer Institute (U01 CA69446), and University of Melbourne (U01 CA69638). The Australian BCFR was also supported by the National Health and Medical Research Council of Australia, the New South Wales Cancer Council, the Victorian Health Promotion Foundation (Australia), and the Victorian Breast Cancer Research Consortium. Melissa C. Southey is a NHMRC Senior Research Fellow and a Victorian Breast Cancer Research Consortium Group Leader. Carriers at FCCC were also identified with support from National Institutes of Health grants P01 CA16094 and R01 CA22435. The New York BCFR was also supported by National Institutes of Health grants P30 CA13696 and P30 ES009089. The Utah BCFR was also supported by the National Center for Research Resources and the National Center for Advancing Translational Sciences, NIH grant UL1 RR025764, and by Award Number P30 CA042014 from the National Cancer Institute. Baltic Familial Breast Ovarian Cancer Consortium (BFBOCC): BFBOCC is partly supported by Lithuania (BFBOCC-LT), Research Council of Lithuania grant LIG-19/2010, and Hereditary Cancer Association (Paveldimo vėžio asociacija)., Latvia (BFBOCC-LV) is partly supported by LSC grant 10.0010.08 and in part by a grant from the ESF Nr.2009/0220/1DP/1.1.1.2.0/09/APIA/VIAA/​016.BRCA-gene mutations and breast cancer in South African women (BMBSA): BMBSA was supported by grants from the Cancer Association of South Africa (CANSA) to Elizabeth J. van Rensburg. Beckman Research Institute of the City of Hope (BRICOH): Susan L. Neuhausen was partially supported by the Morris and Horowitz Families Endowed Professorship. BRICOH was supported by NIH R01CA74415 and NIH P30 CA033752. Copenhagen Breast Cancer Study (CBCS): The CBCS study was supported by the NEYE Foundation. Spanish National Cancer Centre (CNIO): This work was partially supported by Spanish Association against Cancer (AECC08), RTICC 06/0020/1060, FISPI08/1120, Mutua Madrileña Foundation (FMMA) and SAF2010-20493. City of Hope Cancer Center (COH): The City of Hope Clinical Cancer Genetics Community Research Network is supported by Award Number RC4A153828 (PI: Jeffrey N. Weitzel) from the National Cancer Institute and the Office of the Director, National Institutes of Health. CONsorzio Studi ITaliani sui Tumori Ereditari Alla Mammella (CONSIT TEAM): CONSIT TEAM was funded by grants from Fondazione Italiana per la Ricerca sul Cancro (Special Project “Hereditary tumors”), Italian Association for Cancer Research (AIRC, IG 8713), Italian Minitry of Health (Extraordinary National Cancer Program 2006, “Alleanza contro il Cancro” and “Progetto Tumori Femminili), Italian Ministry of Education, University and Research (Prin 2008) Centro di Ascolto Donne Operate al Seno (CAOS) association and by funds from Italian citizens who allocated the 5×1000 share of their tax payment in support of the Fondazione IRCCS Istituto Nazionale Tumori, according to Italian laws (INT-Institutional strategic projects ‘5×1000’). German Cancer Research Center (DKFZ): The DKFZ study was supported by the DKFZ. The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON): HEBON is supported by the Dutch Cancer Society grants NKI1998-1854, NKI2004-3088, NKI2007-3756, the NWO grant 91109024, the Pink Ribbon grant 110005, and the BBMRI grant CP46/NWO., Epidemiological study of BRCA1 & BRCA2 mutation carriers (EMBRACE): EMBRACE is supported by Cancer Research UK Grants C1287/A10118 and C1287/A11990. D. Gareth Evans and Fiona Lalloo are supported by an NIHR grant to the Biomedical Research Centre, Manchester. The Investigators at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust are supported by an NIHR grant to the Biomedical Research Centre at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust. Rosalind A. Eeles and Elizabeth Bancroft are supported by Cancer Research UK Grant C5047/A8385. Fox Chase Cancer Canter (FCCC): The authors acknowledge support from The University of Kansas Cancer Center and the Kansas Bioscience Authority Eminent Scholar Program. Andrew K. Godwin was funded by 5U01CA113916, R01CA140323, and by the Chancellors Distinguished Chair in Biomedical Sciences Professorship. German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC): The German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC) is supported by the German Cancer Aid (grant no 109076, Rita K. Schmutzler) and by the Center for Molecular Medicine Cologne (CMMC). Genetic Modifiers of cancer risk in BRCA1/2 mutation carriers (GEMO): The GEMO study was supported by the Ligue National Contre le Cancer; the Association “Le cancer du sein, parlons-en!” Award and the Canadian Institutes of Health Research for the “CIHR Team in Familial Risks of Breast Cancer” program. Gynecologic Oncology Group (GOG): This study was supported by National Cancer Institute grants to the Gynecologic Oncology Group (GOG) Administrative Office and Tissue Bank (CA 27469), Statistical and Data Center (CA 37517), and GOG's Cancer Prevention and Control Committtee (CA 101165). Drs. Mark H. Greene and Phuong L. Mai were supported by funding from the Intramural Research Program, NCI, NIH. Hospital Clinico San Carlos (HCSC): HCSC was supported by RETICC 06/0020/0021, FIS research grant 09/00859, Instituto de Salud Carlos III, Spanish Ministry of Economy and Competitivity, and the European Regional Development Fund (ERDF)., Helsinki Breast Cancer Study (HEBCS): The HEBCS was financially supported by the Helsinki University Central Hospital Research Fund, Academy of Finland (132473), the Finnish Cancer Society, the Nordic Cancer Union, and the Sigrid Juselius Foundation. Study of Genetic Mutations in Breast and Ovarian Cancer patients in Hong Kong and Asia (HRBCP): HRBCP is supported by The Hong Kong Hereditary Breast Cancer Family Registry and the Dr. Ellen Li Charitable Foundation, Hong Kong. Molecular Genetic Studies of Breast and Ovarian Cancer in Hungary (HUNBOCS): HUNBOCS was supported by Hungarian Research Grant KTIA-OTKA CK-80745 and the Norwegian EEA Financial Mechanism HU0115/NA/2008-3/ÖP-9. Institut Català d'Oncologia (ICO): The ICO study was supported by the Asociación Española Contra el Cáncer, Spanish Health Research Foundation, Ramón Areces Foundation, Carlos III Health Institute, Catalan Health Institute, and Autonomous Government of Catalonia and contract grant numbers: ISCIIIRETIC RD06/0020/1051, PI09/02483, PI10/01422, PI10/00748, 2009SGR290, and 2009SGR283. International Hereditary Cancer Centre (IHCC): Supported by the Polish Foundation of Science. Katarzyna Jaworska is a fellow of International PhD program, Postgraduate School of Molecular Medicine, Warsaw Medical University. Iceland Landspitali–University Hospital (ILUH): The ILUH group was supported by the Icelandic Association “Walking for Breast Cancer Research” and by the Landspitali University Hospital Research Fund. INterdisciplinary HEalth Research Internal Team BReast CAncer susceptibility (INHERIT): INHERIT work was supported by the Canadian Institutes of Health Research for the “CIHR Team in Familial Risks of Breast Cancer” program, the Canadian Breast Cancer Research Alliance grant 019511 and the Ministry of Economic Development, Innovation and Export Trade grant PSR-SIIRI-701. Jacques Simard is Chairholder of the Canada Research Chair in Oncogenetics., Istituto Oncologico Veneto (IOVHBOCS): The IOVHBOCS study was supported by Ministero dell'Istruzione, dell'Università e della Ricerca and Ministero della Salute (“Progetto Tumori Femminili” and RFPS 2006-5-341353,ACC2/R6.9”). Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab): kConFab is supported by grants from the National Breast Cancer Foundation and the National Health and Medical Research Council (NHMRC) and by the Queensland Cancer Fund; the Cancer Councils of New South Wales, Victoria, Tasmania, and South Australia; and the Cancer Foundation of Western Australia. Amanda B. Spurdle is an NHMRC Senior Research Fellow. The Clinical Follow Up Study was funded from 2001–2009 by NHMRC and currently by the National Breast Cancer Foundation and Cancer Australia #628333. Mayo Clinic (MAYO): MAYO is supported by NIH grant CA128978, an NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), a U.S. Department of Defence Ovarian Cancer Idea award (W81XWH-10-1-0341) and grants from the Breast Cancer Research Foundation and the Komen Foundation for the Cure. McGill University (MCGILL): The McGill Study was supported by Jewish General Hospital Weekend to End Breast Cancer, Quebec Ministry of Economic Development, Innovation, and Export Trade. Memorial Sloan-Kettering Cancer Center (MSKCC): The MSKCC study was supported by Breast Cancer Research Foundation, Niehaus Clinical Cancer Genetics Initiative, Andrew Sabin Family Foundation, and Lymphoma Foundation. Modifier Study of Quantitative Effects on Disease (MODSQUAD): MODSQUAD was supported by the European Regional Development Fund and the State Budget of the Czech Republic (RECAMO, CZ.1.05/2.1.00/03.0101). Women's College Research Institute, Toronto (NAROD): NAROD was supported by NIH grant: 1R01 CA149429-01. National Cancer Institute (NCI): Drs. Mark H. Greene and Phuong L. Mai were supported by the Intramural Research Program of the US National Cancer Institute, NIH, and by support services contracts NO2-CP-11019-50 and N02-CP-65504 with Westat, Rockville, MD. National Israeli Cancer Control Center (NICCC): NICCC is supported by Clalit Health Services in Israel. Some of its activities are supported by the Israel Cancer Association and the Breast Cancer Research Foundation (BCRF), NY. N. N. Petrov Institute of Oncology (NNPIO): The NNPIO study has been supported by the Russian Foundation for Basic Research (grants 11-04-00227, 12-04-00928, and 12-04-01490), the Federal Agency for Science and Innovations, Russia (contract 02.740.11.0780), and through a Royal Society International Joint grant (JP090615). The Ohio State University Comprehensive Cancer Center (OSU-CCG): OSUCCG is supported by the Ohio State University Comprehensive Cancer Center., South East Asian Breast Cancer Association Study (SEABASS): SEABASS is supported by the Ministry of Science, Technology and Innovation, Ministry of Higher Education (UM.C/HlR/MOHE/06) and Cancer Research Initiatives Foundation. Sheba Medical Centre (SMC): The SMC study was partially funded through a grant by the Israel Cancer Association and the funding for the Israeli Inherited Breast Cancer Consortium. Swedish Breast Cancer Study (SWE-BRCA): SWE-BRCA collaborators are supported by the Swedish Cancer Society. The University of Chicago Center for Clinical Cancer Genetics and Global Health (UCHICAGO): UCHICAGO is supported by grants from the US National Cancer Institute (NIH/NCI) and by the Ralph and Marion Falk Medical Research Trust, the Entertainment Industry Fund National Women's Cancer Research Alliance, and the Breast Cancer Research Foundation. University of California Los Angeles (UCLA): The UCLA study was supported by the Jonsson Comprehensive Cancer Center Foundation and the Breast Cancer Research Foundation. University of California San Francisco (UCSF): The UCSF study was supported by the UCSF Cancer Risk Program and the Helen Diller Family Comprehensive Cancer Center. United Kingdom Familial Ovarian Cancer Registries (UKFOCR): UKFOCR was supported by a project grant from CRUK to Paul Pharoah. University of Pennsylvania (UPENN): The UPENN study was supported by the National Institutes of Health (NIH) (R01-CA102776 and R01-CA083855), Breast Cancer Research Foundation, Rooney Family Foundation, Susan G. Komen Foundation for the Cure, and the Macdonald Family Foundation. Victorian Familial Cancer Trials Group (VFCTG): The VFCTG study was supported by the Victorian Cancer Agency, Cancer Australia, and National Breast Cancer Foundation. Women's Cancer Research Initiative (WCRI): The WCRI at the Samuel Oschin Comprehensive Cancer Institute, Cedars Sinai Medical Center, Los Angeles, is funded by the American Cancer Society Early Detection Professorship (SIOP-06-258-01-COUN).

Published
2013

26. FOCAL - x-ray spectroscopy for QED in strong fields

Author

Beyer, H. F., Banas, D., Hagmann, S., Heß, R., Hillenbrand, P.-M., Indelicato, P., Jagodzinski, P., Kämpfer, T., Kozhuharov, C., Lestinsky, M., Liesen, D., Litvinov, Y. A., Blumenhagen, K.-H., Loetzsch, R., Manil, B., Märtin, R., Nolden, F., Petridis, N., Sanjari, M. S., Schulze, K. S., Schwemlein, M., Simionovici, A., Spillmann, U., Bosch, F., Steck, M., Stöhlker, T., Szabo, C. I., Trassinelli, M., Trotsenko, S., Uschmann, I., Weber, G., Wehrhan, O., Winckler, N., Winters, D., Brandau, C., Winters, N., Ziegler, E., Chen, W., Dimopoulou, C., Förster, E., Gaßner, T., and Gumberidze, A.

Published
2013

27. Crystal optics for precision x-ray spectroscopy on highly charged ions—conception and proof

Author

Beyer, H F, primary, Gassner, T, additional, Trassinelli, M, additional, Heß, R, additional, Spillmann, U, additional, Banaś, D, additional, Blumenhagen, K-H, additional, Bosch, F, additional, Brandau, C, additional, Chen, W, additional, Dimopoulou, Chr, additional, Förster, E, additional, Grisenti, R E, additional, Gumberidze, A, additional, Hagmann, S, additional, Hillenbrand, P-M, additional, Indelicato, P, additional, Jagodzinski, P, additional, Kämpfer, T, additional, Kozhuharov, Chr, additional, Lestinsky, M, additional, Liesen, D, additional, Litvinov, Yu A, additional, Loetzsch, R, additional, Manil, B, additional, Märtin, R, additional, Nolden, F, additional, Petridis, N, additional, Sanjari, M S, additional, Schulze, K S, additional, Schwemlein, M, additional, Simionovici, A, additional, Steck, M, additional, Stöhlker, Th, additional, Szabo, C I, additional, Trotsenko, S, additional, Uschmann, I, additional, Weber, G, additional, Wehrhan, O, additional, Winckler, N, additional, Winters, D F A, additional, Winters, N, additional, and Ziegler, E, additional

Published
2015
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28. Publisher’s Note: “Monte-Carlo simulation of noise in hard X-ray Transmission Crystal Spectrometers: Identification of contributors to the background noise and shielding optimization” [Rev. Sci. Instrum. 85, 11D615 (2014)]

Author

Thfoin, I., primary, Reverdin, C., additional, Hulin, S., additional, Szabo, C. I., additional, Bastiani-Ceccotti, S., additional, Batani, D., additional, Brambrink, E., additional, Koenig, M., additional, Duval, A., additional, Leboeuf, X., additional, Lecherbourg, L., additional, Rossé, B., additional, Morace, A., additional, Santos, J. J., additional, Vaisseau, X., additional, Fourment, C., additional, Giuffrida, L., additional, and Nakatsutsumi, M., additional

Published
2015
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29. Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)

Author

Osorio, A, Milne, R L, Pita, G, Peterlongo, P, Heikkinen, T, Simard, J, Chenevix-Trench, G, Spurdle, A B, Beesley, J, Chen, X, Healey, S, Group, KConFab, Neuhausen, S L, Ding, Y C, Couch, F J, Wang, X, Lindor, N, Manoukian, S, Barile, M, Viel, A, Tizzoni, L, Szabo, C I, Foretova, L, Zikan, M, Claes, K, Greene, M H, Mai, P, Rennert, G, Lejbkowicz, F, Barnett-Griness, O, Andrulis, I L, Ozcelik, H, Weerasooriya, N, Group, OCGN, Gerdes, A-M, Thomassen, M, Cruger, D G, Caligo, M A, Friedman, E, Kaufman, B, Laitman, Y, Cohen, S., Kontorovich, T, Gershoni-Baruch, R, Dagan, E, Jernström, H, Askmalm, M S, Arver, B, Malmer, B, Group, SWE-BRCA, Domchek, S M, Nathanson, K L, Brunet, J, Ramón Y Cajal, T, Yannoukakos, D, Hamann, U, Group, HEBON, Hogervorst, F B L, Verhoef, S, García, Eb Gómez, Wijnen, J T, van den Ouweland, A, Group, EMBRACE, Easton, D F, Peock, S, Cook, M, Oliver, C T, Frost, D, Luccarini, C, Evans, D G, Lalloo, F, Eeles, R, Pichert, G, Cook, J, Hodgson, S, Morrison, P J, Douglas, F, Godwin, A K, Group, GEMO, Sinilnikova, O M, Barjhoux, L, Moncoutier, V, Giraud, S, Cassini, C, Olivier-Faivre, L, Révillion, F, Peyrat, J-P, Muller, D, Fricker, J-P, Lynch, H T, John, E M, Buys, S, Daly, M, Hopper, J L, Terry, M B, Miron, A, Yassin, Y, Goldgar, D, Family Registry, Breast Cancer, Singer, C F, Gschwantler-Kaulich, D, Pfeiler, G, Spiess, A-C, Hansen, Thomas V O, Johannsson, O T, Kirchhoff, T, Offit, K, Kosarin, K, Piedmonte, M, Rodriguez, G C, Wakeley, K, Boggess, J F, Basil, J, Blank, S V, Toland, A E, Montagna, M, Casella, C, Imyanitov, E N, Allavena, A, Schmutzler, R K, Versmold, B, Engel, C, Meindl, A, Ditsch, N, Arnold, N, Niederacher, D, Deißler, H, Fiebig, B, Varon-Mateeva, R, Schaefer, D, Froster, U G, Caldes, T, de la Hoya, M, McGuffog, L, Antoniou, A C, Nevanlinna, H, Radice, P, Benítez, J, and Human Genetics

Subjects
Oncology, Cancer Research, medicine.medical_specialty, Heterozygote, Medicin och hälsovetenskap, endocrine system diseases, Population, Genes, BRCA2, Genes, BRCA1, Single-nucleotide polymorphism, Biology, BRCA1, BRCA2, ERCC4, breast cancer, Polymorphism, Single Nucleotide, Medical and Health Sciences, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Internal medicine, medicine, SNP, Humans, education, skin and connective tissue diseases, 030304 developmental biology, Retrospective Studies, 0303 health sciences, education.field_of_study, Cancer, Retrospective cohort study, Genetics and Genomics, medicine.disease, 3. Good health, DNA-Binding Proteins, 030220 oncology & carcinogenesis, Mutation, Cancer research, Female, Breast disease
Abstract

BACKGROUND: In this study we aimed to evaluate the role of a SNP in intron I of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers. METHODS: We have genotyped rs744154 in 9408 BRCA1 and 5632 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and assessed its association with breast cancer risk using a retrospective weighted cohort approach. RESULTS: We found no evidence of association with breast cancer risk for BRCA1 (per-allele HR: 0.98, 95% CI: 0.93-1.04, P = 0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P = 0.5) mutation carriers. CONCLUSION: This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out. British Journal of Cancer (2009) 101, 2048-2054. doi: 10.1038/sj.bjc.6605416 www.bjcancer.com Published online 17 November 2009 (C) 2009 Cancer Research UK

Published
2009

30. Monte-Carlo simulation of noise in hard X-ray Transmission Crystal Spectrometers: Identification of contributors to the background noise and shielding optimization

Author

Thfoin, I., primary, Reverdin, C., additional, Hulin, S., additional, Szabo, C. I., additional, Bastiani-Ceccotti, S., additional, Batani, D., additional, Brambrink, E., additional, Koenig, M., additional, Duval, A., additional, Leboeuf, X., additional, Lecherbourg, L., additional, Rossé, B., additional, Morace, A., additional, Santos, J. J., additional, Vaisseau, X., additional, Fourment, C., additional, Giuffrida, L., additional, and Nakatsutsumi, M., additional

Published
2014
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31. Development of the PETawatt Aquitaine Laser system and new perspectives in physics

Author

Batani, D, primary, Koenig, M, additional, Miquel, J L, additional, Ducret, J E, additional, d'Humieres, E, additional, Hulin, S, additional, Caron, J, additional, Feugeas, J L, additional, Nicolai, Ph, additional, Tikhonchuk, V, additional, Serani, L, additional, Blanchot, N, additional, Raffestin, D, additional, Thfoin-Lantuejoul, I, additional, Rosse, B, additional, Reverdin, C, additional, Duval, A, additional, Laniesse, F, additional, Chancé, A, additional, Dubreuil, D, additional, Gastineau, B, additional, Guillard, J C, additional, Harrault, F, additional, Lebœuf, D, additional, Le Ster, J-M, additional, Pès, C, additional, Toussaint, J-C, additional, Leboeuf, X, additional, Lecherbourg, L, additional, Szabo, C I, additional, Dubois, J-L, additional, and Lubrano-Lavaderci, F, additional

Published
2014
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32. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers : Implications for risk prediction

Author

Antoniou, A. C., Beesley, J., McGuffog, L., Sinilnikova, O. M., Healey, S., Neuhausen, S. L., Ding, Y. C., Rebbeck, T. R., Weitzel, J. N., Lynch, H. T., Isaacs, C., Ganz, P. A., Tomlinson, G., Olopade, O. I., Couch, F. J., Wang, X., Lindor, N. M., Pankratz, V. S., Radice, P., Manoukian, S., Peissel, B., Zaffaroni, D., Barile, M., Viel, A., Allavena, A., Dall'Olio, V., Peterlongo, P., Szabo, C. I., Zikan, M., Claes, K., Poppe, B., Foretova, L., Mai, P. L., Greene, M. H., Rennert, G., Lejbkowicz, F., Glendon, G., Ozcelik, H., Andrulis, I. L., Thomassen, M., Gerdes, A. -M, Sunde, L., Cruger, D., Jensen, U. B., Caligo, M., Friedman, E., Kaufman, B., Laitman, Y., Milgrom, R., Dubrovsky, M., Cohen, S., Borg, A., Jernström, H., Lindblom, A., Rantala, J., Stenmark-Askmalm, M., Melin, B., Nathanson, K., Domchek, S., Jakubowska, A., Lubinski, J., Huzarski, T., Osorio, A., Lasa, A., Durán, M., Tejada, M. -I, Godino, J., Benitez, J., Hamann, U., Kriege, M., Hoogerbrugge, N., Van Der Luijt, R. B., Van Asperen, C. J., Devilee, P., Meijers-Heijboer, E. J., Blok, M. J., Aalfs, C. M., Hogervorst, F., Rookus, M., Cook, M., Oliver, C., Frost, D., Conroy, D., Evans, D. G., Lalloo, F., Pichert, G., Davidson, R., Cole, T., Cook, J., Paterson, J., Hodgson, S., Morrison, P. J., Porteous, M. E., Walker, L., Kennedy, M. J., Dorkins, H., Peock, S., Godwin, A. K., Stoppa-Lyonnet, D., De Pauw, A., Mazoyer, S., Bonadona, V., Lasset, C., Dreyfus, H., Leroux, D., Hardouin, A., Berthet, P., Faivre, L., Loustalot, C., Noguchi, T., Sobol, H., Rouleau, E., Nogues, C., Frénay, M., Vénat-Bouvet, L., Hopper, J. L., Daly, M. B., Terry, M. B., John, E. M., Buys, S. S., Yassin, Y., Miron, A., Goldgar, D., Singer, C. F., Dressler, A. C., Gschwantler-Kaulich, D., Pfeiler, G., Hansen, T. V. O., Jnson, L., Agnarsson, B. A., Kirchhoff, T., Offit, K., Devlin, V., Dutra-Clarke, A., Piedmonte, M., Rodriguez, G. C., Wakeley, K., Boggess, J. F., Basil, J., Schwartz, P. E., Blank, S. V., Toland, A. E., Montagna, M., Casella, C., Imyanitov, E., Tihomirova, L., Blanco, I., Lazaro, C., Ramus, S. J., Sucheston, L., Karlan, B. Y., Gross, J., Schmutzler, R., Wappenschmidt, B., Engel, C., Meindl, A., Lochmann, M., Arnold, N., Heidemann, S., Varon-Mateeva, R., Niederacher, D., Sutter, C., Deissler, H., Gadzicki, D., Preisler-Adams, S., Kast, K., Schönbuchner, I., Caldes, T., De La Hoya, M., Aittomäki, K., Nevanlinna, H., Simard, J., Spurdle, A. B., Holland, H., Chen, X., Platte, R., Chenevix-Trench, G., Easton, D. F., Antoniou, A. C., Beesley, J., McGuffog, L., Sinilnikova, O. M., Healey, S., Neuhausen, S. L., Ding, Y. C., Rebbeck, T. R., Weitzel, J. N., Lynch, H. T., Isaacs, C., Ganz, P. A., Tomlinson, G., Olopade, O. I., Couch, F. J., Wang, X., Lindor, N. M., Pankratz, V. S., Radice, P., Manoukian, S., Peissel, B., Zaffaroni, D., Barile, M., Viel, A., Allavena, A., Dall'Olio, V., Peterlongo, P., Szabo, C. I., Zikan, M., Claes, K., Poppe, B., Foretova, L., Mai, P. L., Greene, M. H., Rennert, G., Lejbkowicz, F., Glendon, G., Ozcelik, H., Andrulis, I. L., Thomassen, M., Gerdes, A. -M, Sunde, L., Cruger, D., Jensen, U. B., Caligo, M., Friedman, E., Kaufman, B., Laitman, Y., Milgrom, R., Dubrovsky, M., Cohen, S., Borg, A., Jernström, H., Lindblom, A., Rantala, J., Stenmark-Askmalm, M., Melin, B., Nathanson, K., Domchek, S., Jakubowska, A., Lubinski, J., Huzarski, T., Osorio, A., Lasa, A., Durán, M., Tejada, M. -I, Godino, J., Benitez, J., Hamann, U., Kriege, M., Hoogerbrugge, N., Van Der Luijt, R. B., Van Asperen, C. J., Devilee, P., Meijers-Heijboer, E. J., Blok, M. J., Aalfs, C. M., Hogervorst, F., Rookus, M., Cook, M., Oliver, C., Frost, D., Conroy, D., Evans, D. G., Lalloo, F., Pichert, G., Davidson, R., Cole, T., Cook, J., Paterson, J., Hodgson, S., Morrison, P. J., Porteous, M. E., Walker, L., Kennedy, M. J., Dorkins, H., Peock, S., Godwin, A. K., Stoppa-Lyonnet, D., De Pauw, A., Mazoyer, S., Bonadona, V., Lasset, C., Dreyfus, H., Leroux, D., Hardouin, A., Berthet, P., Faivre, L., Loustalot, C., Noguchi, T., Sobol, H., Rouleau, E., Nogues, C., Frénay, M., Vénat-Bouvet, L., Hopper, J. L., Daly, M. B., Terry, M. B., John, E. M., Buys, S. S., Yassin, Y., Miron, A., Goldgar, D., Singer, C. F., Dressler, A. C., Gschwantler-Kaulich, D., Pfeiler, G., Hansen, T. V. O., Jnson, L., Agnarsson, B. A., Kirchhoff, T., Offit, K., Devlin, V., Dutra-Clarke, A., Piedmonte, M., Rodriguez, G. C., Wakeley, K., Boggess, J. F., Basil, J., Schwartz, P. E., Blank, S. V., Toland, A. E., Montagna, M., Casella, C., Imyanitov, E., Tihomirova, L., Blanco, I., Lazaro, C., Ramus, S. J., Sucheston, L., Karlan, B. Y., Gross, J., Schmutzler, R., Wappenschmidt, B., Engel, C., Meindl, A., Lochmann, M., Arnold, N., Heidemann, S., Varon-Mateeva, R., Niederacher, D., Sutter, C., Deissler, H., Gadzicki, D., Preisler-Adams, S., Kast, K., Schönbuchner, I., Caldes, T., De La Hoya, M., Aittomäki, K., Nevanlinna, H., Simard, J., Spurdle, A. B., Holland, H., Chen, X., Platte, R., Chenevix-Trench, G., and Easton, D. F.

Abstract

The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR = 1.10, 95% CI: 1.03-1.18, P = 0.006 and HR = 1.09, 95% CI: 1.01-1.19, P = 0.03, respectively). Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P = 7 × 10-11 - 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42% to 50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences might be sufficient to influence the clinical management of mutation carriers., SWE-BRCA SWE-BRCA collaborators: Per Karlsson, Margareta Nordling, Annika Bergman, and Zakaria Einbeigi, Gothenburg, Sahlgrenska University Hospital; Sigrun Liedgren, Linkoping University Hospital; Niklas Loman, Ha kan Olsson, Ulf Kristoffersson, Helena Jernstr€om, Katja Harbst, and Karin Henriksson, Lund University Hospital; Brita Arver, Anna von Wachenfeldt, Annelie Liljegren, and Gisela Barbany-Bustinza, Stockholm, Karolinska University Hospital; Henrik Gronberg, Eva-Lena Stattin, and Monica Emanuelsson, Umea University Hos- € pital; Hans Ehrencrona, Richard Rosenquist Brandell, and Niklas Dahl, Uppsala University Hospital

Published
2010
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33. Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Author

Engel, C., Versmold, B., Wappenschmidt, B., Simard, J., Easton, D. F., Peock, S., Cook, M., Oliver, C., Frost, D., Mayes, R., Evans, D. G., Eeles, R., Paterson, J., Brewer, C., McGuffog, L., Antoniou, A. C., Stoppa-Lyonnet, D., Sinilnikova, O. M., Barjhoux, L., Frenay, M., Michel, C., Leroux, D., Dreyfus, H., Toulas, C., Gladieff, L., Uhrhammer, N., Bignon, Y. -J, Meindl, A., Arnold, N., Varon-Mateeva, R., Niederacher, D., Preisler-Adams, S., Kast, K., Deissler, H., Sutter, C., Gadzicki, D., Chenevix-Trench, G., Spurdle, A. B., Chen, X., Beesley, J., Olsson, H., Kristoffersson, U., Ehrencrona, H., Liljegren, A., Van Der Luijt, R. B., Van Os, T. A., Van Leeuwen, F. E., Domchek, S. M., Rebbeck, T. R., Nathanson, K. L., Osorio, A., Ramón Y Cajal, T., Konstantopoulou, I., Benítez, J., Friedman, E., Kaufman, B., Laitman, Y., Mai, P. L., Greene, M. H., Nevanlinna, H., Aittomäki, K., Szabo, C. I., Caldes, T., Couch, F. J., Andrulis, I. L., Godwin, A. K., Hamann, U., Schmutzler, R. K., Engel, C., Versmold, B., Wappenschmidt, B., Simard, J., Easton, D. F., Peock, S., Cook, M., Oliver, C., Frost, D., Mayes, R., Evans, D. G., Eeles, R., Paterson, J., Brewer, C., McGuffog, L., Antoniou, A. C., Stoppa-Lyonnet, D., Sinilnikova, O. M., Barjhoux, L., Frenay, M., Michel, C., Leroux, D., Dreyfus, H., Toulas, C., Gladieff, L., Uhrhammer, N., Bignon, Y. -J, Meindl, A., Arnold, N., Varon-Mateeva, R., Niederacher, D., Preisler-Adams, S., Kast, K., Deissler, H., Sutter, C., Gadzicki, D., Chenevix-Trench, G., Spurdle, A. B., Chen, X., Beesley, J., Olsson, H., Kristoffersson, U., Ehrencrona, H., Liljegren, A., Van Der Luijt, R. B., Van Os, T. A., Van Leeuwen, F. E., Domchek, S. M., Rebbeck, T. R., Nathanson, K. L., Osorio, A., Ramón Y Cajal, T., Konstantopoulou, I., Benítez, J., Friedman, E., Kaufman, B., Laitman, Y., Mai, P. L., Greene, M. H., Nevanlinna, H., Aittomäki, K., Szabo, C. I., Caldes, T., Couch, F. J., Andrulis, I. L., Godwin, A. K., Hamann, U., and Schmutzler, R. K.

Abstract

Background: The genes caspase-8 (CASP8) and caspase-10 (CASP10) functionally cooperate and play a key role in the initiation of apoptosis. Suppression of apoptosis is one of the major mechanisms underlying the origin and progression of cancer. Previous case-control studies have indicated that the polymorphisms CASP8 D302H and CASP10 V410I are associated with a reduced risk of breast cancer in the general population. Methods: To evaluate whether the CASP8 D302H (CASP10 V410I) polymorphisms modify breast or ovarian cancer risk in BRCA1 and BRCA2 mutation carriers, we analyzed 7,353 (7,227) subjects of white European origin provided by 19 (18) study groups that participate in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A weighted cohort approach was used to estimate hazard ratios (HR) and 95% confidence intervals (95% CI). Results: The minor allele of CASP8 D302H was significantly associated with a reduced risk of breast cancer (per-allele HR, 0.85; 95% CI, 0.76-0.97; Ptrend = 0.011) and ovarian cancer (per-allele HR, 0.69; 95% CI, 0.53-0.89; Ptrend = 0.004) for BRCA1 but not for BRCA2 mutation carriers. The CASP10 V410I polymorphism was not associated with breast or ovarian cancer risk for BRCA1 or BRCA2 mutation carriers. Conclusions: CASP8 D302H decreases breast and ovarian cancer risk for BRCA1 mutation carriers but not for BRCA2 mutation carriers. Impact: The combined application of these and other recently identified genetic riskmodifiers could in the future allow better individual risk calculation and could aid in the individualized counseling and decision making with respect to preventive options in BRCA1 mutation carriers., The Swedish BRCA1 and BRCA2 study (SWE-BRCA) SWE-BRCA collaborators: Per Karlsson, Margareta Nordling, Annika Bergman, and Zakaria Einbeigi, Gothenburg, Sahlgrenska University Hospital; Marie Stenmark-Askmalm and Sigrun Liedgren, Linkoping University Hospital; Ake Borg, Niklas Loman, Hakan Olsson, Ulf Kristoffersson, Helena Jernstrom, Katja Harbst, and Karin Henriksson, Lund University Hospital; Annika Lindblom, Brita Arver, Anna von Wachenfeldt, Annelie Liljegren, Gisela Barbany-Bustinza, and Johanna Rantala, Stockholm, Karolinska University Hospital; Beatrice Malmer, Henrik Gronberg, Eva-Lena Stattin, and Monica Emanuelsson, Umea University Hospital; Hans Ehrencrona, Richard Rosenquist Brandell, and Niklas Dahl, Uppsala University Hospital. We thank the Swedish Cancer Society.

Published
2010
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34. Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)

Author

Osorio, A., Milne, R L, Pita, G., Peterlongo, P., Heikkinen, T., Simard, J., Chenevix-Trench, G., Spurdle, A B, Beesley, J., Chen, X., Healey, S., Neuhausen, S L, Ding, Y C, Couch, F J, Wang, X., Lindor, N., Manoukian, S., Barile, M., Viel, A., Tizzoni, L., Szabo, C I, Foretova, L., Zikan, M., Claes, K., Greene, M H, Mai, P., Rennert, G., Lejbkowicz, F., Barnett-Griness, O., Andrulis, I L, Ozcelik, H., Weerasooriya, N., Gerdes, A-M, Thomassen, M., Cruger, D G, Caligo, M A, Friedman, E., Kaufman, B., Laitman, Y., Cohen, S., Kontorovich, T., Gershoni-Baruch, R., Dagan, E., Jernstrom, H., Stenmark Askmalm, Marie, Arver, B., Malmer, B., Domchek, S M, Nathanson, K L, Brunet, J., Cajal, T. Ramon y, Yannoukakos, D., Hamann, U., Hogervorst, F B L, Verhoef, S., Gomez Garcia, E B, Wijnen, J T, van den Ouweland, A., Easton, D F, Peock, S., Cook, M., Oliver, C T, Frost, D., Luccarini, C., Evans, D G, Lalloo, F., Eeles, R., Pichert, G., Cook, J., Hodgson, S., Morrison, P J, Douglas, F., Godwin, A K, Sinilnikova, O M, Barjhoux, L., Stoppa-Lyonnet, D., Moncoutier, V., Giraud, S., Cassini, C., Olivier-Faivre, L., Revillion, F., Peyrat, J-P, Muller, D., Fricker, J-P, Lynch, H T, John, E M, Buys, S., Daly, M., Hopper, J L, Terry, M B, Miron, A., Yassin, Y., Goldgar, D., Singer, C F, Gschwantler-Kaulich, D., Pfeiler, G., Spiess, A-C, v. O. Hansen, Thomas, T. Johannsson, O., Kirchhoff, T., Offit, K., Kosarin, K., Piedmonte, M., C. Rodriguez, G., Wakeley, K., F. Boggess, J., Basil, J., E. Schwartz, P., V. Blank, S., E. Toland, A., Montagna, M., Casella, C., N. Imyanitov, E., Allavena, A., K. Schmutzler, R., Versmold, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Niederacher, D., Deissler, H., Fiebig, B., Varon-Mateeva, R., Schaefer, D., G. Froster, U., Caldes, T., de la Hoya, M., McGuffog, L., C. Antoniou, A., Nevanlinna, H., Radice, P., Benitez, J., Osorio, A., Milne, R L, Pita, G., Peterlongo, P., Heikkinen, T., Simard, J., Chenevix-Trench, G., Spurdle, A B, Beesley, J., Chen, X., Healey, S., Neuhausen, S L, Ding, Y C, Couch, F J, Wang, X., Lindor, N., Manoukian, S., Barile, M., Viel, A., Tizzoni, L., Szabo, C I, Foretova, L., Zikan, M., Claes, K., Greene, M H, Mai, P., Rennert, G., Lejbkowicz, F., Barnett-Griness, O., Andrulis, I L, Ozcelik, H., Weerasooriya, N., Gerdes, A-M, Thomassen, M., Cruger, D G, Caligo, M A, Friedman, E., Kaufman, B., Laitman, Y., Cohen, S., Kontorovich, T., Gershoni-Baruch, R., Dagan, E., Jernstrom, H., Stenmark Askmalm, Marie, Arver, B., Malmer, B., Domchek, S M, Nathanson, K L, Brunet, J., Cajal, T. Ramon y, Yannoukakos, D., Hamann, U., Hogervorst, F B L, Verhoef, S., Gomez Garcia, E B, Wijnen, J T, van den Ouweland, A., Easton, D F, Peock, S., Cook, M., Oliver, C T, Frost, D., Luccarini, C., Evans, D G, Lalloo, F., Eeles, R., Pichert, G., Cook, J., Hodgson, S., Morrison, P J, Douglas, F., Godwin, A K, Sinilnikova, O M, Barjhoux, L., Stoppa-Lyonnet, D., Moncoutier, V., Giraud, S., Cassini, C., Olivier-Faivre, L., Revillion, F., Peyrat, J-P, Muller, D., Fricker, J-P, Lynch, H T, John, E M, Buys, S., Daly, M., Hopper, J L, Terry, M B, Miron, A., Yassin, Y., Goldgar, D., Singer, C F, Gschwantler-Kaulich, D., Pfeiler, G., Spiess, A-C, v. O. Hansen, Thomas, T. Johannsson, O., Kirchhoff, T., Offit, K., Kosarin, K., Piedmonte, M., C. Rodriguez, G., Wakeley, K., F. Boggess, J., Basil, J., E. Schwartz, P., V. Blank, S., E. Toland, A., Montagna, M., Casella, C., N. Imyanitov, E., Allavena, A., K. Schmutzler, R., Versmold, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Niederacher, D., Deissler, H., Fiebig, B., Varon-Mateeva, R., Schaefer, D., G. Froster, U., Caldes, T., de la Hoya, M., McGuffog, L., C. Antoniou, A., Nevanlinna, H., Radice, P., and Benitez, J.

Abstract

BACKGROUND: In this study we aimed to evaluate the role of a SNP in intron I of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers. METHODS: We have genotyped rs744154 in 9408 BRCA1 and 5632 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and assessed its association with breast cancer risk using a retrospective weighted cohort approach. RESULTS: We found no evidence of association with breast cancer risk for BRCA1 (per-allele HR: 0.98, 95% CI: 0.93-1.04, P = 0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P = 0.5) mutation carriers. CONCLUSION: This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out.

Published
2009
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35. Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

Author

Antoniou, A. C., Sinilnikova, O. M., McGuffog, L., Healey, S., Nevanlinna, H., Heikkinen, T., Simard, J., Spurdle, A. B., Beesley, J., Chen, X., Neuhausen, S. L., Ding, Y. C., Couch, F. J., Wang, X., Fredericksen, Z., Peterlongo, P., Peissel, B., Bonanni, B., Viel, A., Bernard, L., Radice, P., Szabo, C. I., Foretova, L., Zikan, M., Claes, K., Greene, M. H., Mai, P. L., Rennert, G., Lejbkowicz, F., Andrulis, I. L., Ozcelik, H., Glendon, G., Gerdes, A. -M, Thomassen, M., Sunde, L., Caligo, M. A., Laitman, Y., Kontorovich, T., Cohen, S., Kaufman, B., Dagan, E., Baruch, R. G., Friedman, E., Harbst, K., Barbany-Bustinza, G., Rantala, J., Ehrencrona, H., Karlsson, P., Domchek, S. M., Nathanson, K. L., Osorio, A., Blanco, I., Lasa, A., Benítez, J., Hamann, U., Hogervorst, F. B. L., Rookus, M. A., Collee, J. M., Devilee, P., Ligtenberg, M. J., van der Luijt, R. B., Aalfs, C. M., Waisfisz, Q., Wijnen, J., van Roozendaal, C. E. P., Peock, S., Cook, M., Frost, D., Oliver, C., Platte, R., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Davidson, R., Chu, C., Eccles, D., Cole, T., Hodgson, S., Godwin, A. K., Stoppa-Lyonnet, D., Buecher, B., Léoné, M., Bressac-de Paillerets, B., Remenieras, A., Caron, O., Lenoir, G. M., Sevenet, N., Longy, M., Ferrer, S. F., Prieur, F., Goldgar, D., Miron, A., John, E. M., Buys, S. S., Daly, M. B., Hopper, J. L., Terry, M. B., Yassin, Y., Singer, C., Gschwantler-Kaulich, D., Staudigl, C., Hansen, T. V. O., Barkardottir, R. B., Kirchhoff, T., Pal, P., Kosarin, K., Offit, K., Piedmonte, M., Rodriguez, G. C., Wakeley, K., Boggess, J. F., Basil, J., Schwartz, P. E., Blank, S. V., Toland, A. E., Montagna, M., Casella, C., Imyanitov, E. N., Allavena, A., Schmutzler, R. K., Versmold, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Niederacher, D., Deißler, H., Fiebig, B., Suttner, C., Schönbuchner, I., Gadzicki, D., Caldes, T., de la Hoya, M., Pooley, K. A., Easton, D. F., Chenevix-Trench, G., Antoniou, A. C., Sinilnikova, O. M., McGuffog, L., Healey, S., Nevanlinna, H., Heikkinen, T., Simard, J., Spurdle, A. B., Beesley, J., Chen, X., Neuhausen, S. L., Ding, Y. C., Couch, F. J., Wang, X., Fredericksen, Z., Peterlongo, P., Peissel, B., Bonanni, B., Viel, A., Bernard, L., Radice, P., Szabo, C. I., Foretova, L., Zikan, M., Claes, K., Greene, M. H., Mai, P. L., Rennert, G., Lejbkowicz, F., Andrulis, I. L., Ozcelik, H., Glendon, G., Gerdes, A. -M, Thomassen, M., Sunde, L., Caligo, M. A., Laitman, Y., Kontorovich, T., Cohen, S., Kaufman, B., Dagan, E., Baruch, R. G., Friedman, E., Harbst, K., Barbany-Bustinza, G., Rantala, J., Ehrencrona, H., Karlsson, P., Domchek, S. M., Nathanson, K. L., Osorio, A., Blanco, I., Lasa, A., Benítez, J., Hamann, U., Hogervorst, F. B. L., Rookus, M. A., Collee, J. M., Devilee, P., Ligtenberg, M. J., van der Luijt, R. B., Aalfs, C. M., Waisfisz, Q., Wijnen, J., van Roozendaal, C. E. P., Peock, S., Cook, M., Frost, D., Oliver, C., Platte, R., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Davidson, R., Chu, C., Eccles, D., Cole, T., Hodgson, S., Godwin, A. K., Stoppa-Lyonnet, D., Buecher, B., Léoné, M., Bressac-de Paillerets, B., Remenieras, A., Caron, O., Lenoir, G. M., Sevenet, N., Longy, M., Ferrer, S. F., Prieur, F., Goldgar, D., Miron, A., John, E. M., Buys, S. S., Daly, M. B., Hopper, J. L., Terry, M. B., Yassin, Y., Singer, C., Gschwantler-Kaulich, D., Staudigl, C., Hansen, T. V. O., Barkardottir, R. B., Kirchhoff, T., Pal, P., Kosarin, K., Offit, K., Piedmonte, M., Rodriguez, G. C., Wakeley, K., Boggess, J. F., Basil, J., Schwartz, P. E., Blank, S. V., Toland, A. E., Montagna, M., Casella, C., Imyanitov, E. N., Allavena, A., Schmutzler, R. K., Versmold, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Niederacher, D., Deißler, H., Fiebig, B., Suttner, C., Schönbuchner, I., Gadzicki, D., Caldes, T., de la Hoya, M., Pooley, K. A., Easton, D. F., and Chenevix-Trench, G.

Abstract

Genome-wide association studies of breast cancer have identified multiple single nucleotide polymorphisms (SNPs) that are associated with increased breast cancer risks in the general population. In a previous study, we demonstrated that the minor alleles at three of these SNPs, in FGFR2, TNRC9 and MAP3K1, also confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. Three additional SNPs rs3817198 at LSP1, rs13387042 at 2q35 and rs13281615 at 8q24 have since been reported to be associated with breast cancer in the general population, and in this study we evaluated their association with breast cancer risk in 9442 BRCA1 and 5665 BRCA2 mutation carriers from 33 study centres. The minor allele of rs3817198 was associated with increased breast cancer risk only for BRCA2 mutation carriers [hazard ratio (HR) = 1.16, 95% CI: 1.07-1.25, P-trend = 2.8 × 10-4]. The best fit for the association of SNP rs13387042 at 2q35 with breast cancer risk was a dominant model for both BRCA1 and BRCA2 mutation carriers (BRCA1: HR = 1.14, 95% CI: 1.04-1.25, P = 0.0047; BRCA2: HR = 1.18 95% CI: 1.04-1.33, P = 0.0079). SNP rs13281615 at 8q24 was not associated with breast cancer for either BRCA1 or BRCA2 mutation carriers, but the estimated association for BRCA2 mutation carriers (per-allele HR = 1.06, 95% CI: 0.98-1.14) was consistent with odds ratio estimates derived from population-based case-control studies. The LSP1 and 2q35 SNPs appear to interact multiplicatively on breast cancer risk for BRCA2 mutation carriers. There was no evidence that the associations vary by mutation type depending on whether the mutated protein is predicted to be stable or not., The Swedish BRCA1 and BRCA2 Study (SWE-BRCA) SWE-BRCA collaborators: P.K., Margareta Nordling, Annika Bergman and Zakaria Einbeigi, Gothenburg, Sahlgrenska University Hospital; Marie Stenmark-Askmalm and Sigrun Liedgren, Linkoping University Hospital; Ake Borg, Niklas Loman, Hakan Olsson, Ulf Kristoffersson, Helena Jernstrom, K.H. and Karin Henrisson, Lund University Hospital; Annika Lindblom, Brita Arver, Anna von Wachenfeldt, Annelie Liljegren, G.B.-B. and J.R., Stockholm, Karolinska. University Hospital; Beatrice Malmer, Eva-Lena Stattin and Monica Emanuelsson, Umea University Hospital; H.E., Richard Rosenquist Brandell and Niklas Dahl, Uppsala University Hospital.

Published
2009
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40. High-resolution K-shell spectra from laser excited molybdenum plasmas.

Author

Szabo, C. I., Indelicato, P., Hudson, L. T., Seely, J. F., and Ma, T.

Subjects
*X-ray spectra, *MOLYBDENUM, *SPECTROMETERS, *PLASMA gases, *LASERS
Abstract

X-ray spectra from Molybdenum plasmas were recorded by a Cauchois-type cylindrically bent Transmission Crystal Spectrometer (TCS). The absolutely calibrated spectrometer provides an unprecedented resolution of inner shell transitions (K x-ray radiation). This tool allows us to resolve individual lines from different charge states existing inside the laser-produced plasma. The inner shell transitions from highly charged Molybdenum shown in this report have never been resolved before in such detail in a laser-produced plasma. [ABSTRACT FROM AUTHOR]

Published
2013
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42. Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families

Author

Friedman, L S, Szabo, C I, Ostermeyer, E A, Dowd, P, Butler, L, Park, T, Lee, M K, Goode, E L, Rowell, S E, and King, M C

Subjects
BRCA2 Protein, Male, endocrine system diseases, Base Sequence, BRCA1 Protein, Genetic Linkage, Molecular Sequence Data, Chromosome Mapping, Neoplasm Proteins, Pedigree, Genetic Heterogeneity, Jews, Mutation, Humans, Female, skin and connective tissue diseases, Alleles, Gene Deletion, Polymorphism, Single-Stranded Conformational, Research Article, Transcription Factors
Abstract

Thirty-seven families with four or more cases of breast cancer or breast and ovarian cancer were analyzed for mutations in BRCA1. Twelve different germ-line mutations, four novel and eight previously observed, were detected in 16 families. Five families of Ashkenazi Jewish descent carried the 185delAG mutation and shared the same haplotype at eight polymorphic markers spanning approximately 850 kb at BRCA1. Expressivity of 185delAG in these families varied, from early-onset breast cancer without ovarian cancer. Mutation 4184delTCAA occurred independently in two families. In one family, penetrance was complete, with females developing early-onset breast cancer or ovarian cancer and the male carrier developing prostatic cancer, whereas, in the other family, penetrance was incomplete and only breast cancer occurred, diagnosed at ages 38-81 years. Two novel nonsense mutations led to the loss of mutant BRCA1 transcript in families with 10 and 6 cases of early-onset breast cancer and ovarian cancer. A 665-nt segment of the BRCA1 3'-UTR and 1.3 kb of genomic sequence including the putative promoter region were invariant by single-strand conformation analysis in 13 families without coding-sequence mutations. Overall in our series, BRCA1 mutations have been detected in 26 families: 16 with positive BRCA1 lod scores, 7 with negative lod scores (reflecting multiple sporadic breast cancers), and 3 not tested for linkage. Three other families have positive lod scores for linkage to BRCA2, but 13 families without detected BRCA1 mutations have negative lod scores for both BRCA1 and BRCA2.

Published
1995

49. Electronic temperatures, densities, and plasma x-ray emission of a 14.5 GHz electron-cyclotron resonance ion source

Author

Gumberidze, A., primary, Trassinelli, M., additional, Adrouche, N., additional, Szabo, C. I., additional, Indelicato, P., additional, Haranger, F., additional, Isac, J.-M., additional, Lamour, E., additional, Le Bigot, E.-O., additional, Mérot, J., additional, Prigent, C., additional, Rozet, J.-P., additional, and Vernhet, D., additional

Published
2010
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