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734 results on '"Sawyer E"'

1. The Choice is Theirs: Students Achieve Positive Outcomes when Offered Flexibility in Course Assessment Options

Author

Sawyer E Coulter, Paige Coyne, and Dave M. Andrews

Subjects
flexible assessment, assessment weighting, student choice, Education (General), L7-991
Abstract

Research suggests that learning and performance can be promoted when students are given choice over aspects of course design and assessment. This study examined student performance (i.e., grades achieved) as a function of their choice of assessment weighting options and group membership in a senior undergraduate course. A group (N = 109) of upper-year undergraduate students were asked, at the start of term, to select one of nine weighting options for individual and group assessments, and the size of their groups (1 to 5 members). Overall, 85% of students opted for a different assessment weighting option than what the instructor would have provided. Mean grades were significantly greater (~12%) for groups of four and five members compared to those students who conducted the group assessments on their own. In addition, 80% of students demonstrated that they correctly perceived their academic strengths by achieving higher grades on the assessment type to which they allocated the most weight. Allowing students some choice over how assessments are weighted is a relatively simple way of enriching their higher education experience. It is hoped that the positive results of this research will encourage instructors to utilize and implement flexible assessment options in their courses.

Published
2024
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2. Current and future diagnostic and treatment strategies for patients with invasive lobular breast cancer

Author

Van Baelen, K., Geukens, T., Maetens, M., Tjan-Heijnen, V., Lord, C.J., Linn, S., Bidard, F.-C., Richard, F., Yang, W.W., Steele, R.E., Pettitt, S.J., Van Ongeval, C., De Schepper, M., Isnaldi, E., Nevelsteen, I., Smeets, A., Punie, K., Voorwerk, L., Wildiers, H., Floris, G., Vincent-Salomon, A., Derksen, P.W.B., Neven, P., Senkus, E., Sawyer, E., Kok, M., and Desmedt, C.

Published
2022
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4. Making the Connection: How Membrane Contact Sites Have Changed Our View of Organelle Biology

Author

Voeltz, G., Sawyer, E., Hajnóczky, G., Prinz, W., Voeltz, G., Sawyer, E., Hajnóczky, G., and Prinz, W.

Abstract

The view of organelles and how they operate together has changed dramatically over the last two decades. The textbook view of organelles was that they operated largely independently and were connected by vesicular trafficking and the diffusion of signals through the cytoplasm. We now know that all organelles make functional close contacts with one another, often called membrane contact sites. The study of these sites has moved to center stage in cell biology as it has become clear that they play critical roles in healthy and developing cells and during cell stress and disease states. Contact sites have important roles in intracellular signaling, lipid metabolism, motor-protein-mediated membrane dynamics, organelle division, and organelle biogenesis. Here, we summarize the major conceptual changes that have occurred in cell biology as we have come to appreciate how contact sites integrate the activities of organelles.

Published
2024

6. Potential Theory on Trees, Graphs and Ahlfors Regular Metric Spaces

Author

Arcozzi, N., Rochberg, R., Sawyer, E., and Wick, B. D.

Subjects
Mathematics - Analysis of PDEs, Mathematics - Metric Geometry, 30LXX, 31-XX, 32U20
Abstract

We investigate connections between potential theories on a Ahlfors-regular metric space X, on a graph G associated with X, and on the tree T obtained by removing the "horizontal edges" in G. Applications to the calculation of set capacity are given., Comment: 45 pages; presentation improved based on referee comments

Published
2010

7. The Herschel-SPIRE instrument and its in-flight performance

Author

Griffin, M. J., Abergel, A., Abreu, A., Ade, P. A. R., André, P., Augueres, J. -L., Babbedge, T., Bae, Y., Baillie, T., Baluteau, J. -P., Barlow, M. J., Bendo, G., Benielli, D., Bock, J. J., Bonhomme, P., Brisbin, D., Brockley-Blatt, C., Caldwell, M., Cara, C., Castro-Rodriguez, N., Cerulli, R., Chanial, P., Chen, S., Clark, E., Clements, D. L., Clerc, L., Coker, J., Communal, D., Conversi, L., Cox, P., Crumb, D., Cunningham, C., Daly, F., Davis, G. R., De Antoni, P., Delderfield, J., Devin, N., Di Giorgio, A., Didschuns, I., Dohlen, K., Donati, M., Dowell, A., Dowell, C. D., Duband, L., Dumaye, L., Emery, R. J., Ferlet, M., Ferrand, D., Fontignie, J., Fox, M., Franceschini, A., Frerking, M., Fulton, T., Garcia, J., Gastaud, R., Gear, W. K., Glenn, J., Goizel, A., Griffin, D. K., Grundy, T., Guest, S., Guillemet, L., Hargrave, P. C., Harwit, M., Hastings, P., Hatziminaoglou, E., Herman, M., Hinde, B., Hristov, V., Huang, M., Imhof, P., Isaak, K. J., Israelsson, U., Ivison, R. J., Jennings, D., Kiernan, B., King, K. J., Lange, A. E., Latter, W., Laurent, G., Laurent, P., Leeks, S. J., Lellouch, E., Levenson, L., Li, B., Li, J., Lilienthal, J., Lim, T., Liu, J., Lu, N., Madden, S., Mainetti, G., Marliani, P., McKay, D., Mercier, K., Molinari, S., Morris, H., Moseley, H., Mulder, J., Mur, M., Naylor, D. A., Nguyen, H., O'Halloran, B., Oliver, S., Olofsson, G., Olofsson, H. -G., Orfei, R., Page, M. J., Pain, I., Panuzzo, P., Papageorgiou, A., Parks, G., Parr-Burman, P., Pearce, A., Pearson, C., Pérez-Fournon, I., Pinsard, F., Pisano, G., Podosek, J., Pohlen, M., Polehampton, E. T., Pouliquen, D., Rigopoulou, D., Rizzo, D., Roseboom, I. G., Roussel, H., Rowan-Robinson, M., Rownd, B., Saraceno, P., Sauvage, M., Savage, R., Savini, G., Sawyer, E., Scharmberg, C., Schmitt, D., Schneider, N., Schulz, B., Schwartz, A., Shafer, R., Shupe, D. L., Sibthorpe, B., Sidher, S., Smith, A., Smith, A. J., Smith, D., Spencer, L., Stobie, B., Sudiwala, R., Sukhatme, K., Surace, C., Stevens, J. A., Swinyard, B. M., Trichas, M., Tourette, T., Triou, H., Tseng, S., Tucker, C., Turner, A., Vaccari, M., Valtchanov, I., Vigroux, L., Virique, E., Voellmer, G., Walker, H., Ward, R., Waskett, T., Weilert, M., Wesson, R., White, G. J., Whitehouse, N., Wilson, C. D., Winter, B., Woodcraft, A. L., Wright, G. S., Xu, C. K., Zavagno, A., Zemcov, M., Zhang, L., and Zonca, E.

Subjects
Astrophysics - Instrumentation and Methods for Astrophysics
Abstract

The Spectral and Photometric Imaging Receiver (SPIRE), is the Herschel Space Observatory`s submillimetre camera and spectrometer. It contains a three-band imaging photometer operating at 250, 350 and 500 microns, and an imaging Fourier Transform Spectrometer (FTS) which covers simultaneously its whole operating range of 194-671 microns (447-1550 GHz). The SPIRE detectors are arrays of feedhorn-coupled bolometers cooled to 0.3 K. The photometer has a field of view of 4' x 8', observed simultaneously in the three spectral bands. Its main operating mode is scan-mapping, whereby the field of view is scanned across the sky to achieve full spatial sampling and to cover large areas if desired. The spectrometer has an approximately circular field of view with a diameter of 2.6'. The spectral resolution can be adjusted between 1.2 and 25 GHz by changing the stroke length of the FTS scan mirror. Its main operating mode involves a fixed telescope pointing with multiple scans of the FTS mirror to acquire spectral data. For extended source measurements, multiple position offsets are implemented by means of an internal beam steering mirror to achieve the desired spatial sampling and by rastering of the telescope pointing to map areas larger than the field of view. The SPIRE instrument consists of a cold focal plane unit located inside the Herschel cryostat and warm electronics units, located on the spacecraft Service Module, for instrument control and data handling. Science data are transmitted to Earth with no on-board data compression, and processed by automatic pipelines to produce calibrated science products. The in-flight performance of the instrument matches or exceeds predictions based on pre-launch testing and modelling: the photometer sensitivity is comparable to or slightly better than estimated pre-launch, and the spectrometer sensitivity is also better by a factor of 1.5-2., Comment: Accepted for publication in Astronomy & Astrophyics (Herschel first results special issue)

Published
2010
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8. The presentation, management and outcome of inflammatory breast cancer cases in the UK: Data from a multi-centre retrospective review

Author

Copson, E., Shaaban, A.M., Maishman, T., Moseley, P.M., McKenzie, H., Bradbury, J., Borley, A., Brzezinska, M., Chan, S.Y.T., Ching, J., Cutress, R.I., Danial, I., Dall, B., Kerin, M., Lowery, A.J., Macpherson, I.R., Romics, L., Sawyer, E., Sharmat, N., Sircar, T., Vidya, R., Pan, Y., Rea, D., Jones, L., Eccles, D.M., and Berditchevski, F.

Published
2018
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9. FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium.

Author

Agarwal, D, Pineda, S, Michailidou, K, Herranz, J, Pita, G, Moreno, L, Alonso, M, Dennis, J, Wang, Q, Bolla, M, Meyer, K, Menéndez-Rodríguez, P, Hardisson, D, Mendiola, M, González-Neira, A, Lindblom, A, Margolin, S, Swerdlow, A, Orr, N, Jones, M, Matsuo, K, Ito, H, Iwata, H, Kondo, N, Hartman, M, Hui, M, Lim, W, Iau, P, Sawyer, E, Tomlinson, I, Kerin, M, Miller, N, Kang, D, Choi, J-Y, Park, S, Noh, D-Y, Hopper, J, Schmidt, D, Makalic, E, Southey, M, Teo, S, Yip, C, Sivanandan, K, Tay, W-T, Brauch, H, Brüning, T, Hamann, U, Dunning, A, Shah, M, Andrulis, I, Knight, J, Glendon, G, Tchatchou, S, Schmidt, M, Broeks, A, Rosenberg, E, vant Veer, L, Fasching, P, Renner, S, Ekici, A, Beckmann, M, Shen, C-Y, Hsiung, C-N, Yu, J-C, Hou, M-F, Blot, W, Cai, Q, Tseng, C-C, Van Den Berg, D, Stram, D, Cox, A, Brock, I, Reed, M, Muir, K, Lophatananon, A, Stewart-Brown, S, Siriwanarangsan, P, Zheng, W, Deming-Halverson, S, Shrubsole, M, Long, J, Shu, X-O, Lu, W, Gao, Y-T, Zhang, B, Radice, P, Peterlongo, P, Manoukian, S, Mariette, F, Sangrajrang, S, McKay, J, Couch, F, Toland, A, Yannoukakos, D, Fletcher, O, Johnson, N, dos Santos Silva, I, Peto, J, Marme, F, and Burwinkel, B

Subjects
Breast Neoplasms, Case-Control Studies, Female, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Genotype, Humans, Polymorphism, Single Nucleotide, Receptor, Fibroblast Growth Factor, Type 1, Receptor, Fibroblast Growth Factor, Type 2, Receptor, Fibroblast Growth Factor, Type 3, Receptor, Fibroblast Growth Factor, Type 4, Receptor, Fibroblast Growth Factor, Type 5
Abstract

BACKGROUND: Breast cancer is one of the most common malignancies in women. Genome-wide association studies have identified FGFR2 as a breast cancer susceptibility gene. Common variation in other fibroblast growth factor (FGF) receptors might also modify risk. We tested this hypothesis by studying genotyped single-nucleotide polymorphisms (SNPs) and imputed SNPs in FGFR1, FGFR3, FGFR4 and FGFRL1 in the Breast Cancer Association Consortium. METHODS: Data were combined from 49 studies, including 53 835 cases and 50 156 controls, of which 89 050 (46 450 cases and 42 600 controls) were of European ancestry, 12 893 (6269 cases and 6624 controls) of Asian and 2048 (1116 cases and 932 controls) of African ancestry. Associations with risk of breast cancer, overall and by disease sub-type, were assessed using unconditional logistic regression. RESULTS: Little evidence of association with breast cancer risk was observed for SNPs in the FGF receptor genes. The strongest evidence in European women was for rs743682 in FGFR3; the estimated per-allele odds ratio was 1.05 (95% confidence interval=1.02-1.09, P=0.0020), which is substantially lower than that observed for SNPs in FGFR2. CONCLUSION: Our results suggest that common variants in the other FGF receptors are not associated with risk of breast cancer to the degree observed for FGFR2.

Published
2014

10. Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast

Author

Ashworth, Alan, Sawyer, E, Roylance, R, Petridis, C, Brook, MN, Nowinski, S, Papouli, E, Fletcher, O, Pinder, S, Hanby, A, and Kohut, K

Abstract

Invasive lobular breast cancer (ILC) accounts for 10-15% of all invasive breast carcinomas. It is generally ER positive (ER+) and often associated with lobular carcinoma in situ (LCIS). Genome-wide association studies have identified more than 70 common po

Published
2014

11. Partial Breast Radiotherapy for Women with Early Breast Cancer: 10-Year Outcomes from IMPORT LOW (CRUK/06/003)

Author

Kirby, A., primary, Griffin, C., additional, Finneran, L., additional, Sydenham, M., additional, Alhasso, A., additional, Brunt, A.M., additional, Chan, H., additional, Jefford, M., additional, Sawyer, E., additional, Syndikus, I., additional, Tsang, Y.M., additional, Wheatley, D., additional, Yarnold, J., additional, Coles, C., additional, and Bliss, J., additional

Published
2023
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13. The characterization of the Carleson measures for analytic Besov spaces: a simple proof

Author

Arcozzi, N., Rochberg, R., and Sawyer, E.

Subjects
Mathematics - Complex Variables, 30H05, 46E15, 46E35
Abstract

We give a simple proof of the characterization of the Carleson measures for the weighted analytic Besov spaces. Such characterization provides some information on the radial variation of an analytic Besov function., Comment: 12 pages

Published
2007

14. Carleson Measures for the Drury-Arveson Hardy space and other Besov-Sobolev spaces on Complex Balls

Author

Arcozzi, N., Rochberg, R., and Sawyer, E.

Subjects
Mathematics - Complex Variables, Mathematics - Operator Algebras, 32A37, 47B32
Abstract

We characterize the Carleson measures for the Drury-Arveson Hardy space and other Hilbert spaces of analytic functions of several complex variables. This provides sharp estimates for Drury's generalization of Von Neumann's inequality. The characterization is in terms of a geometric condition, the "split tree condition", which reflects the nonisotropic geometry underlying the Drury-Arveson Hardy space.

Published
2007

16. Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk

Author

Stevens, KN, Garcia-Closas, M, Fredericksen, Z, Kosel, M, Pankratz, VS, Hopper, JL, Dite, GS, Apicella, C, Southey, MC, Schmidt, MK, Broeks, A, Van ‘t Veer, LJ, Tollenaar, RAEM, Fasching, PA, Beckmann, MW, Hein, A, Ekici, AB, Johnson, N, Peto, J, dos Santos Silva, I, Gibson, L, Sawyer, E, Tomlinson, I, Kerin, MJ, Chanock, S, Lissowska, J, Hunter, DJ, Hoover, RN, Thomas, GD, Milne, RL, Pérez, JI Arias, González-Neira, A, Benítez, J, Burwinkel, B, Meindl, A, Schmutzler, RK, Bartrar, CR, Hamann, U, Ko, YD, Brüning, T, Chang-Claude, J, Hein, R, Wang-Gohrke, S, Dörk, T, Schürmann, P, Bremer, M, Hillemanns, P, Bogdanova, N, Zalutsky, JV, Rogov, YI, Antonenkova, N, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, V-M, Hartikainen, J, Chenevix-Trench, G, Chen, X, Peterlongo, P, Bonanni, B, Bernard, L, Manoukian, S, Wang, X, Cerhan, J, Vachon, CM, Olson, J, Giles, GG, Baglietto, L, McLean, CA, Severi, G, John, EM, Miron, A, Winqvist, R, Pylkäs, K, Jukkola-Vuorinen, A, Grip, M, Andrulis, I, Knight, JA, Glendon, G, Mulligan, AM, Cox, A, Brock, IW, Elliott, G, Cross, SS, Pharoah, PP, Dunning, AM, Pooley, KA, Humphreys, MK, Wang, J, Kang, D, Yoo, K-Y, Noh, D-Y, Sangrajrang, S, Gabrieau, V, Brennan, P, McKay, J, Anton-Culver, H, Ziogas, A, and Couch, FJ

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Prevention, Genetics, Cancer, Breast Cancer, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Breast Neoplasms, Case-Control Studies, Class I Phosphatidylinositol 3-Kinases, Female, Genetic Predisposition to Disease, Genetic Variation, Humans, Phosphatidylinositol 3-Kinases, genetic susceptibility, neoplasms, association study, GENICA Network, kConFab Investigators, Australian Ovarian Cancer Study Group, Public Health and Health Services, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundSomatic mutations in phosphoinositide-3-kinase catalytic subunit alpha (PIK3CA) are frequent in breast tumours and have been associated with oestrogen receptor (ER) expression, human epidermal growth factor receptor-2 overexpression, lymph node metastasis and poor survival. The goal of this study was to evaluate the association between inherited variation in this oncogene and risk of breast cancer.MethodsA single-nucleotide polymorphism from the PIK3CA locus that was associated with breast cancer in a study of Caucasian breast cancer cases and controls from the Mayo Clinic (MCBCS) was genotyped in 5436 cases and 5280 controls from the Cancer Genetic Markers of Susceptibility (CGEMS) study and in 30 949 cases and 29 788 controls from the Breast Cancer Association Consortium (BCAC).ResultsRs1607237 was significantly associated with a decreased risk of breast cancer in MCBCS, CGEMS and all studies of white Europeans combined (odds ratio (OR)=0.97, 95% confidence interval (CI) 0.95-0.99, P=4.6 × 10(-3)), but did not reach significance in the BCAC replication study alone (OR=0.98, 95% CI 0.96-1.01, P=0.139).ConclusionCommon germline variation in PIK3CA does not have a strong influence on the risk of breast cancer.

Published
2011

20. The Choice is Theirs: Students Achieve Positive Outcomes when Offered Flexibility in Course Assessment Options.

Author

Coulter, Sawyer E., Coyne, Paige, and Andrews, David M.

Subjects
UNDERGRADUATES, STUDENTS, HIGHER education, FUNCTIONAL assessment
Abstract

Copyright of Canadian Journal for the Scholarship of Teaching & Learning is the property of Society for Teaching & Learning in Higher Education and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2024
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21. 70P Invasive lobular breast cancer (ILC), an overlooked subtype in clinical trials

Author

Van Baelen, K., primary, Van Cauwenberge, J., additional, Maetens, M., additional, Camden, A., additional, Chase, M.C., additional, Fraser, V., additional, Freeney, S., additional, Hutcheson, L., additional, Levine, J.K., additional, Lien, T., additional, Terveer, R., additional, Turner, C., additional, Vandecaveye, V., additional, Neven, P., additional, Wildiers, H., additional, Sawyer, E., additional, Vincent-Salomon, A., additional, Derksen, P., additional, Desmedt, C., additional, and Beck, G., additional

Published
2023
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23. Corrigendum to “Current and future diagnostic and treatment strategies for patients with invasive lobular breast cancer”: [Annals of Oncology 33 (2022) 769–785, (S092375342201167X), (10.1016/j.annonc.2022.05.006)]

Author

Pathologie, Medisch Oncologische Disciplines, Cancer, Pathologie patiënten zorg, Pathologie Groep Derksen, Van Baelen, K., Geukens, T., Maetens, M., Tjan-Heijnen, V., Lord, C. J., Linn, S., Bidard, F. C., Richard, F., Yang, W. W., Steele, R. E., Pettitt, S. J., Van Ongeval, C., De Schepper, M., Isnaldi, E., Nevelsteen, I., Smeets, A., Punie, K., Voorwerk, L., Wildiers, H., Floris, G., Vincent Salomon, A., Derksen, P. W.B., Neven, P., Senkus, E., Sawyer, E., Kok, M., Desmedt, C., Pathologie, Medisch Oncologische Disciplines, Cancer, Pathologie patiënten zorg, Pathologie Groep Derksen, Van Baelen, K., Geukens, T., Maetens, M., Tjan-Heijnen, V., Lord, C. J., Linn, S., Bidard, F. C., Richard, F., Yang, W. W., Steele, R. E., Pettitt, S. J., Van Ongeval, C., De Schepper, M., Isnaldi, E., Nevelsteen, I., Smeets, A., Punie, K., Voorwerk, L., Wildiers, H., Floris, G., Vincent Salomon, A., Derksen, P. W.B., Neven, P., Senkus, E., Sawyer, E., Kok, M., and Desmedt, C.

Published
2023

25. The first crystal structures of hybrid and parallel four-tetrad intramolecular G-quadruplexes

Author

Dana Beseiso, Erin V Chen, Sawyer E McCarthy, Kailey N Martin, Elizabeth P Gallagher, Joanne Miao, and Liliya A Yatsunyk

Subjects
G-Quadruplexes, Genetics, Nucleic Acid Conformation, DNA, Telomere
Abstract

G-quadruplexes (GQs) are non-canonical DNA structures composed of stacks of stabilized G-tetrads. GQs play an important role in a variety of biological processes and may form at telomeres and oncogene promoters among other genomic locations. Here, we investigate nine variants of telomeric DNA from Tetrahymena thermophila with the repeat (TTGGGG)n. Biophysical data indicate that the sequences fold into stable four-tetrad GQs which adopt multiple conformations according to native PAGE. Excitingly, we solved the crystal structure of two variants, TET25 and TET26. The two variants differ by the presence of a 3′-T yet adopt different GQ conformations. TET25 forms a hybrid [3 + 1] GQ and exhibits a rare 5′-top snapback feature. Consequently, TET25 contains four loops: three lateral (TT, TT, and GTT) and one propeller (TT). TET26 folds into a parallel GQ with three TT propeller loops. To the best of our knowledge, TET25 and TET26 are the first reported hybrid and parallel four-tetrad unimolecular GQ structures. The results presented here expand the repertoire of available GQ structures and provide insight into the intricacy and plasticity of the 3D architecture adopted by telomeric repeats from T. thermophila and GQs in general.

Published
2022

26. Corrigendum to “Current and future diagnostic and treatment strategies for patients with invasive lobular breast cancer”

Author

Van Baelen, K., primary, Geukens, T., additional, Maetens, M., additional, Tjan-Heijnen, V., additional, Lord, C.J., additional, Linn, S., additional, Bidard, F.-C., additional, Richard, F., additional, Yang, W.W., additional, Steele, R.E., additional, Pettitt, S.J., additional, Van Ongeval, C., additional, De Schepper, M., additional, Isnaldi, E., additional, Nevelsteen, I., additional, Smeets, A., additional, Punie, K., additional, Voorwerk, L., additional, Wildiers, H., additional, Floris, G., additional, Vincent Salomon, A., additional, Derksen, P.W.B., additional, Neven, P., additional, Senkus, E., additional, Sawyer, E., additional, Kok, M., additional, and Desmedt, C., additional

Published
2022
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28. Common variants in breast cancer risk loci predispose to distinct tumor subtypes

Author

Ahearn, T. U. (Thomas U.), Zhang, H. (Haoyu), Michailidou, K. (Kyriaki), Milne, R. L. (Roger L.), Bolla, M. K. (Manjeet K.), Dennis, J. (Joe), Dunning, A. M. (Alison M.), Lush, M. (Michael), Wang, Q. (Qin), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Auer, P. L. (Paul L.), Augustinsson, A. (Annelie), Baten, A. (Adinda), Becher, H. (Heiko), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Blomqvist, C. (Carl), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brooks-Wilson, A. (Angela), Bruening, T. (Thomas), Burwinkel, B. (Barbara), Buys, S. S. (Saundra S.), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chenevix-Trench, G. (Georgia), Clarke, C. L. (Christine L.), Collee, J. M. (J. Margriet), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Dork, T. (Thilo), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Floris, G. (Giuseppe), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), Giles, G. G. (Graham G.), Goldberg, M. S. (Mark S.), Gonzalez-Neira, A. (Anna), Alnaes, G. I. (Grethe I. Grenaker), Grip, M. (Mervi), Guenel, P. (Pascal), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hamann, U. (Ute), Harkness, E. F. (Elaine F.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Holleczek, B. (Bernd), Hollestelle, A. (Antoinette), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Howell, A. (Anthony), Jakimovska, M. (Milena), Jakubowska, A. (Anna), John, E. M. (Esther M.), Jones, M. E. (Michael E.), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kauppila, S. (Saila), Keeman, R. (Renske), Khusnutdinova, E. (Elza), Kitahara, C. M. (Cari M.), Ko, Y.-D. (Yon-Dschun), Koutros, S. (Stella), Kristensen, V. N. (Vessela N.), Kruger, U. (Ute), Kubelka-Sabit, K. (Katerina), Kurian, A. W. (Allison W.), Kyriacou, K. (Kyriacos), Lambrechts, D. (Diether), Lee, D. G. (Derrick G.), Lindblom, A. (Annika), Linet, M. (Martha), Lissowska, J. (Jolanta), Llaneza, A. (Ana), Lo, W.-Y. (Wing-Yee), MacInnis, R. J. (Robert J.), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Margolin, S. (Sara), Martinez, M. E. (Maria Elena), McLean, C. (Catriona), Meindl, A. (Alfons), Menon, U. (Usha), Nevanlinna, H. (Heli), Newman, W. G. (William G.), Nodora, J. (Jesse), Offit, K. (Kenneth), Olsson, H. (Hakan), Orr, N. (Nick), Park-Simon, T.-W. (Tjoung-Won), Patel, A. V. (Alpa, V), Peto, J. (Julian), Pita, G. (Guillermo), Plaseska-Karanfilska, D. (Dijana), Prentice, R. (Ross), Punie, K. (Kevin), Pylkas, K. (Katri), Radice, P. (Paolo), Rennert, G. (Gad), Romero, A. (Atocha), Ruediger, T. (Thomas), Saloustros, E. (Emmanouil), Sampson, S. (Sarah), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schoemaker, M. J. (Minouk J.), Schottker, B. (Ben), Sherman, M. E. (Mark E.), Shu, X.-O. (Xiao-Ou), Smichkoska, S. (Snezhana), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Teras, L. R. (Lauren R.), Terry, M. B. (Mary Beth), Torres, D. (Diana), Troester, M. A. (Melissa A.), Vachon, C. M. (Celine M.), van Deurzen, C. H. (Carolien H. M.), van Veen, E. M. (Elke M.), Wagner, P. (Philippe), Weinberg, C. R. (Clarice R.), Wendt, C. (Camilla), Wesseling, J. (Jelle), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Zheng, W. (Wei), Couch, F. J. (Fergus J.), Simard, J. (Jacques), Kraft, P. (Peter), Easton, D. F. (Douglas F.), Pharoah, P. D. (Paul D. P.), Schmidt, M. K. (Marjanka K.), Garcia-Closas, M. (Montserrat), Chatterjee, N. (Nilanjan), Ahearn, T. U. (Thomas U.), Zhang, H. (Haoyu), Michailidou, K. (Kyriaki), Milne, R. L. (Roger L.), Bolla, M. K. (Manjeet K.), Dennis, J. (Joe), Dunning, A. M. (Alison M.), Lush, M. (Michael), Wang, Q. (Qin), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Auer, P. L. (Paul L.), Augustinsson, A. (Annelie), Baten, A. (Adinda), Becher, H. (Heiko), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Blomqvist, C. (Carl), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brooks-Wilson, A. (Angela), Bruening, T. (Thomas), Burwinkel, B. (Barbara), Buys, S. S. (Saundra S.), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chenevix-Trench, G. (Georgia), Clarke, C. L. (Christine L.), Collee, J. M. (J. Margriet), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Dork, T. (Thilo), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Floris, G. (Giuseppe), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), Giles, G. G. (Graham G.), Goldberg, M. S. (Mark S.), Gonzalez-Neira, A. (Anna), Alnaes, G. I. (Grethe I. Grenaker), Grip, M. (Mervi), Guenel, P. (Pascal), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hamann, U. (Ute), Harkness, E. F. (Elaine F.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Holleczek, B. (Bernd), Hollestelle, A. (Antoinette), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Howell, A. (Anthony), Jakimovska, M. (Milena), Jakubowska, A. (Anna), John, E. M. (Esther M.), Jones, M. E. (Michael E.), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kauppila, S. (Saila), Keeman, R. (Renske), Khusnutdinova, E. (Elza), Kitahara, C. M. (Cari M.), Ko, Y.-D. (Yon-Dschun), Koutros, S. (Stella), Kristensen, V. N. (Vessela N.), Kruger, U. (Ute), Kubelka-Sabit, K. (Katerina), Kurian, A. W. (Allison W.), Kyriacou, K. (Kyriacos), Lambrechts, D. (Diether), Lee, D. G. (Derrick G.), Lindblom, A. (Annika), Linet, M. (Martha), Lissowska, J. (Jolanta), Llaneza, A. (Ana), Lo, W.-Y. (Wing-Yee), MacInnis, R. J. (Robert J.), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Margolin, S. (Sara), Martinez, M. E. (Maria Elena), McLean, C. (Catriona), Meindl, A. (Alfons), Menon, U. (Usha), Nevanlinna, H. (Heli), Newman, W. G. (William G.), Nodora, J. (Jesse), Offit, K. (Kenneth), Olsson, H. (Hakan), Orr, N. (Nick), Park-Simon, T.-W. (Tjoung-Won), Patel, A. V. (Alpa, V), Peto, J. (Julian), Pita, G. (Guillermo), Plaseska-Karanfilska, D. (Dijana), Prentice, R. (Ross), Punie, K. (Kevin), Pylkas, K. (Katri), Radice, P. (Paolo), Rennert, G. (Gad), Romero, A. (Atocha), Ruediger, T. (Thomas), Saloustros, E. (Emmanouil), Sampson, S. (Sarah), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schoemaker, M. J. (Minouk J.), Schottker, B. (Ben), Sherman, M. E. (Mark E.), Shu, X.-O. (Xiao-Ou), Smichkoska, S. (Snezhana), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Teras, L. R. (Lauren R.), Terry, M. B. (Mary Beth), Torres, D. (Diana), Troester, M. A. (Melissa A.), Vachon, C. M. (Celine M.), van Deurzen, C. H. (Carolien H. M.), van Veen, E. M. (Elke M.), Wagner, P. (Philippe), Weinberg, C. R. (Clarice R.), Wendt, C. (Camilla), Wesseling, J. (Jelle), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Zheng, W. (Wei), Couch, F. J. (Fergus J.), Simard, J. (Jacques), Kraft, P. (Peter), Easton, D. F. (Douglas F.), Pharoah, P. D. (Paul D. P.), Schmidt, M. K. (Marjanka K.), Garcia-Closas, M. (Montserrat), and Chatterjee, N. (Nilanjan)

Abstract

Background: Genome-wide association studies (GWAS) have identified multiple common breast cancer susceptibility variants. Many of these variants have differential associations by estrogen receptor (ER) status, but how these variants relate with other tumor features and intrinsic molecular subtypes is unclear. Methods: Among 106,571 invasive breast cancer cases and 95,762 controls of European ancestry with data on 173 breast cancer variants identified in previous GWAS, we used novel two-stage polytomous logistic regression models to evaluate variants in relation to multiple tumor features (ER, progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) and grade) adjusting for each other, and to intrinsic-like subtypes. Results: Eighty-five of 173 variants were associated with at least one tumor feature (false discovery rate < 5%), most commonly ER and grade, followed by PR and HER2. Models for intrinsic-like subtypes found nearly all of these variants (83 of 85) associated at p < 0.05 with risk for at least one luminal-like subtype, and approximately half (41 of 85) of the variants were associated with risk of at least one non-luminal subtype, including 32 variants associated with triple-negative (TN) disease. Ten variants were associated with risk of all subtypes in different magnitude. Five variants were associated with risk of luminal A-like and TN subtypes in opposite directions. Conclusion: This report demonstrates a high level of complexity in the etiology heterogeneity of breast cancer susceptibility variants and can inform investigations of subtype-specific risk prediction.

Published
2022

29. Rare germline copy number variants (CNVs) and breast cancer risk

Author

Dennis, J. (Joe), Tyrer, J. P. (Jonathan P.), Walker, L. C. (Logan C.), Michailidou, K. (Kyriaki), Dorling, L. (Leila), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Ahearn, T. U. (Thomas U.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N. N. (Natalia N.), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Freeman, L. E. (Laura E. Beane), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bogdanova, N. V. (Natalia, V), Bojesen, S. E. (Stig E.), Brenner, H. (Hermann), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chenevix-Trench, G. (Georgia), Clarke, C. L. (Christine L.), N. C. (NBCS Collaborators), Collee, J. M. (J. Margriet), C. C. (CTS Consortium), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Devilee, P. (Peter), Dörk, T. (Thilo), Dossus, L. (Laure), Eliassen, A. H. (A. Heather), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Fletcher, O. (Olivia), Flyger, H. (Henrik), Fritschi, L. (Lin), Gabrielson, M. (Marike), Gago-Dominguez, M. (Manuela), Garcia-Closas, M. (Montserrat), Giles, G. G. (Graham G.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hollestelle, A. (Antoinette), Hoppe, R. (Reiner), Hopper, J. L. (John L.), Howell, A. (Anthony), A. I. (ABCTB Investigators), k. I. (kConFab/AOCS Investigators), Jager, A. (Agnes), Jakubowska, A. (Anna), John, E. M. (Esther M.), Johnson, N. (Nichola), Jones, M. E. (Michael E.), Jung, A. (Audrey), Kaaks, R. (Rudolf), Keeman, R. (Renske), Khusnutdinova, E. (Elza), Kitahara, C. M. (Cari M.), Ko, Y.-D. (Yon-Dschun), Kosma, V.-M. (Veli-Matti), Koutros, S. (Stella), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kubelka-Sabit, K. (Katerina), Kurian, A. W. (Allison W.), Lacey, J. V. (James, V), Lambrechts, D. (Diether), Larson, N. L. (Nicole L.), Linet, M. (Martha), Ogrodniczak, A. (Alicja), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Mavroudis, D. (Dimitrios), Milne, R. L. (Roger L.), Muranen, T. A. (Taru A.), Murphy, R. A. (Rachel A.), Nevanlinna, H. (Heli), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Park-Simon, T.-W. (Tjoung-Won), Perou, C. M. (Charles M.), Peterlongo, P. (Paolo), Plaseska-Karanfilska, D. (Dijana), Pylkas, K. (Katri), Rennert, G. (Gad), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Shibli, R. (Rana), Smeets, A. (Ann), Soucy, P. (Penny), Southey, M. C. (Melissa C.), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Taylor, J. A. (Jack A.), Teras, L. R. (Lauren R.), Terry, M. B. (Mary Beth), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Truong, T. (Therese), Vachon, C. M. (Celine M.), Wendt, C. (Camilla), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Zheng, W. (Wei), Ziogas, A. (Argyrios), Simard, J. (Jacques), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Dennis, J. (Joe), Tyrer, J. P. (Jonathan P.), Walker, L. C. (Logan C.), Michailidou, K. (Kyriaki), Dorling, L. (Leila), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Ahearn, T. U. (Thomas U.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N. N. (Natalia N.), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Freeman, L. E. (Laura E. Beane), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bogdanova, N. V. (Natalia, V), Bojesen, S. E. (Stig E.), Brenner, H. (Hermann), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chenevix-Trench, G. (Georgia), Clarke, C. L. (Christine L.), N. C. (NBCS Collaborators), Collee, J. M. (J. Margriet), C. C. (CTS Consortium), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Devilee, P. (Peter), Dörk, T. (Thilo), Dossus, L. (Laure), Eliassen, A. H. (A. Heather), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Fletcher, O. (Olivia), Flyger, H. (Henrik), Fritschi, L. (Lin), Gabrielson, M. (Marike), Gago-Dominguez, M. (Manuela), Garcia-Closas, M. (Montserrat), Giles, G. G. (Graham G.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hollestelle, A. (Antoinette), Hoppe, R. (Reiner), Hopper, J. L. (John L.), Howell, A. (Anthony), A. I. (ABCTB Investigators), k. I. (kConFab/AOCS Investigators), Jager, A. (Agnes), Jakubowska, A. (Anna), John, E. M. (Esther M.), Johnson, N. (Nichola), Jones, M. E. (Michael E.), Jung, A. (Audrey), Kaaks, R. (Rudolf), Keeman, R. (Renske), Khusnutdinova, E. (Elza), Kitahara, C. M. (Cari M.), Ko, Y.-D. (Yon-Dschun), Kosma, V.-M. (Veli-Matti), Koutros, S. (Stella), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kubelka-Sabit, K. (Katerina), Kurian, A. W. (Allison W.), Lacey, J. V. (James, V), Lambrechts, D. (Diether), Larson, N. L. (Nicole L.), Linet, M. (Martha), Ogrodniczak, A. (Alicja), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Mavroudis, D. (Dimitrios), Milne, R. L. (Roger L.), Muranen, T. A. (Taru A.), Murphy, R. A. (Rachel A.), Nevanlinna, H. (Heli), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Park-Simon, T.-W. (Tjoung-Won), Perou, C. M. (Charles M.), Peterlongo, P. (Paolo), Plaseska-Karanfilska, D. (Dijana), Pylkas, K. (Katri), Rennert, G. (Gad), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Shibli, R. (Rana), Smeets, A. (Ann), Soucy, P. (Penny), Southey, M. C. (Melissa C.), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Taylor, J. A. (Jack A.), Teras, L. R. (Lauren R.), Terry, M. B. (Mary Beth), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Truong, T. (Therese), Vachon, C. M. (Celine M.), Wendt, C. (Camilla), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Zheng, W. (Wei), Ziogas, A. (Argyrios), Simard, J. (Jacques), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), and Easton, D. F. (Douglas F.)

Abstract

Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs in genes and non-coding regions for 86,788 breast cancer cases and 76,122 controls of European ancestry with genome-wide array data. Gene burden tests detected the strongest association for deletions in BRCA1 (P = 3.7E-18). Nine other genes were associated with a p-value < 0.01 including known susceptibility genes CHEK2 (P = 0.0008), ATM (P = 0.002) and BRCA2 (P = 0.008). Outside the known genes we detected associations with p-values < 0.001 for either overall or subtype-specific breast cancer at nine deletion regions and four duplication regions. Three of the deletion regions were in established common susceptibility loci. To the best of our knowledge, this is the first genome-wide analysis of rare CNVs in a large breast cancer case-control dataset. We detected associations with exonic deletions in established breast cancer susceptibility genes. We also detected suggestive associations with non-coding CNVs in known and novel loci with large effects sizes. Larger sample sizes will be required to reach robust levels of statistical significance.

Published
2022

30. Current and future diagnostic and treatment strategies for patients with invasive lobular breast cancer

Author

Pathologie, Cancer, Pathologie Groep Derksen, Van Baelen, K, Geukens, T, Maetens, M, Tjan-Heijnen, V, Lord, C J, Linn, S, Bidard, F-C, Richard, F, Yang, W W, Steele, R E, Pettitt, S J, Van Ongeval, C, De Schepper, M, Isnaldi, E, Nevelsteen, I, Smeets, A, Punie, K, Voorwerk, L, Wildiers, H, Floris, G, Vincent-Salomon, A, Derksen, P W B, Neven, P, Senkus, E, Sawyer, E, Kok, M, Desmedt, C, Pathologie, Cancer, Pathologie Groep Derksen, Van Baelen, K, Geukens, T, Maetens, M, Tjan-Heijnen, V, Lord, C J, Linn, S, Bidard, F-C, Richard, F, Yang, W W, Steele, R E, Pettitt, S J, Van Ongeval, C, De Schepper, M, Isnaldi, E, Nevelsteen, I, Smeets, A, Punie, K, Voorwerk, L, Wildiers, H, Floris, G, Vincent-Salomon, A, Derksen, P W B, Neven, P, Senkus, E, Sawyer, E, Kok, M, and Desmedt, C

Published
2022

32. OC-0101 First results of FAST-Forward phase 3 RCT nodal substudy: 3-year normal tissue effects

Author

Wheatley, D., primary, Haviland, J., additional, Patel, J., additional, Sydenham, M., additional, Alhasso, A., additional, Chan, C., additional, Cleator, S., additional, Coles, C., additional, Donovan, E., additional, Kirby, A., additional, Kirwan, C., additional, Nabi, Z., additional, Sawyer, E., additional, Somaiah, N., additional, Syndikus, I., additional, Venables, K., additional, Yarnold, J., additional, Brunt, A.M., additional, and Bliss, J., additional

Published
2022
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33. The Coronal Diagnostic Spectrometer for the Solar and Heliospheric Observatory

Author

Harrison, R. A., Sawyer, E. C., Carter, M. K., Cruise, A. M., Cutler, R. M., Fludra, A., Hayes, R. W., Kent, B. J., Lang, J., Parker, D. J., Payne, J., Pike, C. D., Peskett, S. C., Richards, A. G., Culhane, J. L., Norman, K., Breeveld, A. A., Breeveld, E. R., Janabi, K. F. Al, McCalden, A. J., Parkinson, J. H., Self, D. G., Thomas, P. D., Poland, A. I., Thomas, R. J., Thompson, W. T., Kjeldseth-Moe, O., Brekke, P., Karud, J., Maltby, P., Aschenbach, B., Bräuninger, H., Kühne, M., Hollandt, J., Siegmund, O. H. W., Huber, M. C. E., Gabriel, A. H., Mason, H. E., Bromage, B. J. I., Fleck, B., editor, Domingo, V., editor, and Poland, A., editor

Published
1995
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36. THE GEOSTATIONARY EARTH RADIATION BUDGET PROJECT

Author

Harries, J. E., Russell, J. E., Hanafin, J. A., Brindley, H., Futyan, J., Rufus, J., Kellock, S., Matthews, G., Wrigley, R., Last, A., Mueller, J., Mossavati, R., Ashmall, J., Sawyer, E., Parker, D., Caldwell, M., Allan, P. M., Smith, A., Bates, M. J., Coan, B., Stewart, B. C., Lepine, D. R., Cornwall, L. A., Corney, D. R., Ricketts, M. J., Drummond, D., Smart, D., Cutler, R., Dewitte, S., Clerbaux, N., Gonzalez, L., Ipe, A., Bertrand, C., Joukoff, A., Crommelynck, D., Nelms, N., Llewellyn-Jones, D. T., Butcher, G., Smith, G. L., Szewczyk, Z. P., Mlynczak, P. E., Slingo, A., Allan, R. P., and Ringer, M. A.

Published
2005

38. Defining protein variant functions using high-complexity mutagenesis libraries and enhanced mutant detection software ASMv1.0

Author

William C. Hahn, Ted Sharpe, Xiao Yang, Andrew J. Aguirre, Douglas Alan, Giacomelli Ao, Federica Piccioni, Lee Bp, Sprenkle L, Todd Green, Adam Brown, Andrew L. Hong, Nicole S. Persky, Sawyer E, Briana Fritchman, Hayes Tk, Matthew Meyerson, Robert E. Lintner, David E. Root, Heidi Greulich, Cory M. Johannessen, and Kawabe H

Subjects
Open reading frame, Software, Computer science, Shotgun sequencing, business.industry, Mutagenesis (molecular biology technique), Mutation detection, Computational biology, ORFS, business, Gene, Stop codon
Abstract

Pooled variant expression libraries can test the phenotypes of thousands of variants of a gene in a single multiplexed experiment. In a library encoding all single-amino-acid substitutions of a protein, each variant differs from its reference only at a single codon-position located anywhere along the coding sequence. Consequently, accurately identifying these variants by sequencing is a major technical challenge. A popular but expensive brute-force approach is to divide the pool of variants into multiple smaller sub-libraries that each contains variants of a small region and that must each be constructed and screened individually, but that can then be PCR-amplified and fully sequenced with a single read to allow direct readout of variant abundance. Here we present an approach to screen very large variant libraries with mutations spanning a wide region in a single pool, including library design criteria and mutant-detection algorithms that permit reliable calling and counting of variants from large-scale sequencing data.

Published
2021

39. 1608P The impact of COVID-19 on the delivery of systemic anti-cancer treatment at Guy’s Cancer Centre

Author

Dolly, S., primary, Russell, B., additional, Moss, C.L., additional, Tsotra, E., additional, Gousis, C., additional, Roca, J., additional, Sita-Lumsden, A., additional, Khan, M., additional, Josephs, D., additional, Zaki, K., additional, Smith, D., additional, Michalarea, V., additional, Kristeleit, R., additional, Enting, D., additional, Flanders, L., additional, Lei, M., additional, Sawyer, E., additional, Spicer, J., additional, Ross, P., additional, Montes, A., additional, and Van Hemelrijick, M., additional

Published
2021
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40. Prevalence of the HOXB13 G84E germline mutation in British men and correlation with prostate cancer risk, tumour characteristics and clinical outcomes

Author

Kote-Jarai, Z., Mikropoulos, C., Leongamornlert, D. A., Dadaev, T., Tymrakiewicz, M., Saunders, E. J., Jones, M., Jugurnauth-Little, S., Govindasami, K., Guy, M., Hamdy, F. C., Donovan, J. L., Neal, D. E., Lane, J. A., Dearnaley, D., Wilkinson, R. A., Sawyer, E. J., Morgan, A., Antoniou, A. C., Eeles, R. A., Hall, Per, Berchuck, Andrew, Dennis, Joe, Dunning, Alison M., Lee, Andrew, Dicks, Ed, Simard, Jacques, Tessier, Daniel C., Bacot, Francois, Vincent, Daniel, LaBoissière, Sylvie, Robidoux, Frederic, Bojesen, Stig E., Nielsen, Sune F., and Nordestgaard, Borge G.

Published
2015
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48. From Field and Study

Author

Pemberton, J. R., Shaw, William T., Sawyer, E. J., Wetmore, Alexander, Lamb, Chester C., van Rossem, A. J., and Grey, Henry

Published
1925
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49. OC-0291 IMPORT HIGH trial: Dose escalated simultaneous integrated boost radiotherapy in early breast cancer

Author

Coles, C., primary, Haviland, J.S., additional, Kirby, A.M., additional, Bhattacharya, I., additional, Brunt, A.M., additional, Chan, C., additional, Donovan, E.M., additional, Eaton, D.J., additional, Griffin, C.L., additional, Hopwood, P., additional, Jefford, M.L., additional, Lightowlers, S., additional, Rajapakse, C., additional, Sawyer, E., additional, Stones, L., additional, Syndikus, I., additional, Titley, J.C., additional, Tsang, Y., additional, Twyman, N.I., additional, Bliss, J.M., additional, and Yarnold, J.R., additional

Published
2021
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50. CYP3A7*1C allele:linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers

Author

Johnson, N. (Nichola), Maguire, S. (Sarah), Morra, A. (Anna), Kapoor, P. M. (Pooja Middha), Tomczyk, K. (Katarzyna), Jones, M. E. (Michael E.), Schoemaker, M. J. (Minouk J.), Gilham, C. (Clare), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Ahearn, T. U. (Thomas U.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N. N. (Natalia N.), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Augustinsson, A. (Annelie), Baynes, C. (Caroline), Freeman, L. E. (Laura E. Beane), Beckmann, M. W. (Matthias W.), Benitez, J. (Javier), Bermisheva, M. (Marina), Blomqvist, C. (Carl), Boeckx, B. (Bram), Bogdanova, N. V. (Natalia V.), Bojesen, S. E. (Stig E.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Burwinkel, B. (Barbara), Campa, D. (Daniele), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chanock, S. J. (Stephen J.), Chenevix-Trench, G. (Georgia), Clarke, C. L. (Christine L.), Conroy, D. M. (Don M.), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Doerk, T. (Thilo), Eliassen, A. H. (A. Heather), Engel, C. (Christoph), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Floris, G. (Giuseppe), Flyger, H. (Henrik), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Closas, M. (Montserrat), Gaudet, M. M. (Mia M.), Giles, G. G. (Graham G.), Goldberg, M. S. (Mark S.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Harrington, P. A. (Patricia A.), Hart, S. N. (Steven N.), Hooning, M. J. (Maartje J.), Hopper, J. L. (John L.), Howell, A. (Anthony), Hunter, D. J. (David J.), Jager, A. (Agnes), Jakubowska, A. (Anna), John, E. M. (Esther M.), Kaaks, R. (Rudolf), Keeman, R. (Renske), Khusnutdinova, E. (Elza), Kitahara, C. M. (Cari M.), Kosma, V.-M. (Veli-Matti), Koutros, S. (Stella), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kurian, A. W. (Allison W.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Linet, M. (Martha), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martens, J. W. (John W. M.), Mavroudis, D. (Dimitrios), Mayes, R. (Rebecca), Meindl, A. (Alfons), Milne, R. L. (Roger L.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Newman, W. G. (William G.), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Obi, N. (Nadia), Olshan, A. F. (Andrew F.), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Orban, E. (Ester), Park-Simon, T.-W. (Tjoung-Won), Peterlongo, P. (Paolo), Plaseska-Karanfilska, D. (Dijana), Pylkäs, K. (Katri), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Ruddy, K. J. (Kathryn J.), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Scott, C. (Christopher), Shu, X.-O. (Xiao-Ou), Simard, J. (Jacques), Smichkoska, S. (Snezhana), Sohn, C. (Christof), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Stone, J. (Jennifer), Tamimi, R. M. (Rulla M.), Taylor, J. A. (Jack A.), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Truong, T. (Therese), Vachon, C. M. (Celine M.), van Veen, E. M. (Elke M.), Wang, S. S. (Sophia S.), Weinberg, C. R. (Clarice R.), Wendt, C. (Camilla), Wildiers, H. (Hans), Winqvist, R. (Robert), Wolk, A. (Alicja), Zheng, W. (Wei), Ziogas, A. (Argyrios), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Howie, A. F. (A. Forbes), Peto, J. (Julian), dos-Santos-Silva, I. (Isabel), Swerdlow, A. J. (Anthony J.), Chang-Claude, J. (Jenny), Schmidt, M. K. (Marjanka K.), Orr, N. (Nick), and Fletcher, O. (Olivia)

Abstract

Background: Epidemiological studies provide strong evidence for a role of endogenous sex hormones in the aetiology of breast cancer. The aim of this analysis was to identify genetic variants that are associated with urinary sex-hormone levels and breast cancer risk. Methods: We carried out a genome-wide association study of urinary oestrone-3-glucuronide and pregnanediol-3-glucuronide levels in 560 premenopausal women, with additional analysis of progesterone levels in 298 premenopausal women. To test for the association with breast cancer risk, we carried out follow-up genotyping in 90,916 cases and 89,893 controls from the Breast Cancer Association Consortium. All women were of European ancestry. Results: For pregnanediol-3-glucuronide, there were no genome-wide significant associations; for oestrone-3-glucuronide, we identified a single peak mapping to the CYP3A locus, annotated by rs45446698. The minor rs45446698-C allele was associated with lower oestrone-3-glucuronide (−49.2%, 95% CI −56.1% to −41.1%, P = 3.1 × 10⁻¹⁸); in follow-up analyses, rs45446698-C was also associated with lower progesterone (−26.7%, 95% CI −39.4% to −11.6%, P = 0.001) and reduced risk of oestrogen and progesterone receptor-positive breast cancer (OR = 0.86, 95% CI 0.82–0.91, P = 6.9 × 10⁻¹⁸). Conclusions: The CYP3A7*1C allele is associated with reduced risk of hormone receptor-positive breast cancer possibly mediated via an effect on the metabolism of endogenous sex hormones in premenopausal women.

Published
2021

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