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3. Risk factors and prognostic implications of diagnosis of cancer within 30 days after an emergency hospital admission (emergency presentation): an International Cancer Benchmarking Partnership (ICBP) population-based study.

Author

McPhail, S, Swann, R, Johnson, SA, Barclay, ME, Abd Elkader, H, Alvi, R, Barisic, A, Bucher, O, Clark, GRC, Creighton, N, Danckert, B, Denny, CA, Donnelly, DW, Dowden, JJ, Finn, N, Fox, CR, Fung, S, Gavin, AT, Gomez Navas, E, Habbous, S, Han, J, Huws, DW, Jackson, CGCA, Jensen, H, Kaposhi, B, Kumar, SE, Little, AL, Lu, S, McClure, CA, Møller, B, Musto, G, Nilssen, Y, Saint-Jacques, N, Sarker, S, Te Marvelde, L, Thomas, RS, Thomas, RJS, Thomson, CS, Woods, RR, Zhang, B, Lyratzopoulos, G, ICBP Module 9 Emergency Presentations Working Group, McPhail, S, Swann, R, Johnson, SA, Barclay, ME, Abd Elkader, H, Alvi, R, Barisic, A, Bucher, O, Clark, GRC, Creighton, N, Danckert, B, Denny, CA, Donnelly, DW, Dowden, JJ, Finn, N, Fox, CR, Fung, S, Gavin, AT, Gomez Navas, E, Habbous, S, Han, J, Huws, DW, Jackson, CGCA, Jensen, H, Kaposhi, B, Kumar, SE, Little, AL, Lu, S, McClure, CA, Møller, B, Musto, G, Nilssen, Y, Saint-Jacques, N, Sarker, S, Te Marvelde, L, Thomas, RS, Thomas, RJS, Thomson, CS, Woods, RR, Zhang, B, Lyratzopoulos, G, and ICBP Module 9 Emergency Presentations Working Group

Abstract

BACKGROUND: Greater understanding of international cancer survival differences is needed. We aimed to identify predictors and consequences of cancer diagnosis through emergency presentation in different international jurisdictions in six high-income countries. METHODS: Using a federated analysis model, in this cross-sectional population-based study, we analysed cancer registration and linked hospital admissions data from 14 jurisdictions in six countries (Australia, Canada, Denmark, New Zealand, Norway, and the UK), including patients with primary diagnosis of invasive oesophageal, stomach, colon, rectal, liver, pancreatic, lung, or ovarian cancer during study periods from Jan 1, 2012, to Dec 31, 2017. Data were collected on cancer site, age group, sex, year of diagnosis, and stage at diagnosis. Emergency presentation was defined as diagnosis of cancer within 30 days after an emergency hospital admission. Using logistic regression, we examined variables associated with emergency presentation and associations between emergency presentation and short-term mortality. We meta-analysed estimates across jurisdictions and explored jurisdiction-level associations between cancer survival and the percentage of patients diagnosed as emergencies. FINDINGS: In 857 068 patients across 14 jurisdictions, considering all of the eight cancer sites together, the percentage of diagnoses through emergency presentation ranged from 24·0% (9165 of 38 212 patients) to 42·5% (12 238 of 28 794 patients). There was consistently large variation in the percentage of emergency presentations by cancer site across jurisdictions. Pancreatic cancer diagnoses had the highest percentage of emergency presentations on average overall (46·1% [30 972 of 67 173 patients]), with the jurisdictional range being 34·1% (1083 of 3172 patients) to 60·4% (1317 of 2182 patients). Rectal cancer had the lowest percentage of emergency presentations on average overall (12·1% [10 051 of 83 325 patients]), with a jurisdic

Published
2022

4. Online urological educational material for medical students: can search engines be trusted?

Author

Gunasegaram, J, Ong, S, Swann, R, Lawrentschuk, N, Gunasegaram, J, Ong, S, Swann, R, and Lawrentschuk, N

Abstract

OBJECTIVES: To determine the credibility of online urological information that medical students are likely to encounter, determine possible discrepancies between the credibility of information pertaining to different areas within urology (especially those less relevant to patients), and assess trends in the sponsorship of online urological educational material. MATERIALS AND METHODS: Health on the Net (HON) principles were used as a validated benchmark to assess the reliability of websites that appeared in the first 150 results of a search using the Google search engine. A variety of urological search terms were used, grouped into three broad categories with varying relevance to patients and medical students. Further analysis focussed on the sponsorship of assessed websites. RESULTS: A total of 5400 websites were assessed for validation over a set of 36 search terms. Only 843/5400 (15.6%) of these were HONcode accredited, indicating a large proportion of unverified and potentially unreliable information. Search engine rankings usually favoured accredited websites (P = 0.009), and accreditation peaked at 51.1% (184/360) in the first page of results, but sorting became weaker outside the highest search results. The percentage of accredited websites varied significantly between different subcategories of search terms such as conditions (18.3% [329/1800], P = 0.003) and procedures (13.5% [243/1800], P = 0.043). Governmental/educational and commercial sources supported the majority of websites assessed for sponsorship (21% [31/150] and 33% [49/150], respectively), and the former were more likely to rank highly in search results. CONCLUSION: Online urological information frequently lacks validation and is often of indeterminate credibility. There is a marked decrease in the proportion of accredited websites beyond the highest-ranked results and when considering search categories more relevant to students and less relevant to patients. Students cannot necessarily rely on f

Published
2022

5. Exploring Teacher and Parent Perspectives on School-Based Masculinities in Relation to Mental Health Promotion

Author

Wilson, MJ, Gwyther, K, Simmons, M, Swann, R, Oliffe, JL, Casey, K, Rice, SM, Wilson, MJ, Gwyther, K, Simmons, M, Swann, R, Oliffe, JL, Casey, K, and Rice, SM

Abstract

The capacity for boys' and young men's mental health promotion to act via shifting masculine norms that are linked to poor mental health outcomes, highlights the need to improve the extent to which school-based programs can promote mental health through leveraging more positive embodiments of masculinity. To-date, the perspectives of parents and teachers on such processes are understudied. This qualitative study presents teacher and parent views regarding adolescent masculinities and avenues for school-based developmental programming for boys and young men. In this study, 16 individual qualitative interviews were undertaken with 10 parents (six females, four males), and six teachers (three females, three males), recruited from an independent all-boys' grammar school in Melbourne, Australia. Thematic analysis of parents' and teachers' perspectives indicated their perception of the role of context-dependent "public" and "private" masculinities, the influence of Australian masculinity norms, and the role of private boys' school cultures in the development of adolescent masculinities. Additionally, strategies for development encompassed participants' appetite for boys' exposure to positive role models, in addition to consistent and relevant developmental programming to support positive masculinity development. Findings have implications for efforts to support prosocial masculine identity development via school-based initiatives, as an avenue to promoting mental health of boys and young men.

Published
2022

14. Radiotherapy plus chemotherapy with or without surgical resection for stage III non-small-cell lung cancer: a phase III randomised controlled trial

Author

Albain, Kathy S, Swann, R Suzanne, Rusch, Valerie W, Turrisi, Andrew T, III, Shepherd, Frances A, Smith, Colum, Chen, Yuhchyau, Livingston, Robert B, Feins, Richard H, Gandara, David R, Fry, Willard A, Darling, Gail, Johnson, David H, Green, Mark R, Miller, Robert C, Ley, Joanne, Sause, Willliam T, and Cox, James D

Published
2009
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16. The making of men program: A mixed-methods evaluation of a gender-sensitive rite of passage program for adolescent males

Author

Wilson, MJ, Gwyther, K, Swann, R, Casey, K, Keele, S, Rubinstein, A, Rice, SM, Wilson, MJ, Gwyther, K, Swann, R, Casey, K, Keele, S, Rubinstein, A, and Rice, SM

Abstract

Introduction Current gendered health disparities impacting the wellbeing of boys and young men require new early intervention-focussed approaches. Health promotion programs developed with young men’s health needs and preferences in mind commonly report positive outcomes. Male-specific rite of passage programs aim to formally acknowledge the life-stage transition from boyhood to manhood through a holistic focus on identity, community, and social responsibility. While these programs are growing in popularity, there is limited data available on their effectiveness. Methods This study undertook a pilot evaluation of the Making of Men rite of passage program in a sample of secondary school boys (n=61, age M=16.0, SD=0.5) and their accompanying fathers or male mentors (n=47, age M=52.1, SD=5.8 years) providing non-matched pre-test, post-test, alongside follow-up data for participating boys. Qualitative interviews were also undertaken with 15 individuals (5 mothers, 6 staff members, 4 fathers). Results Quantitative program feedback indicated acceptability, with most respondents providing positive feedback, particularly from participating fathers. Exploratory quantitative effects indicated potential improvements in subjective social support and open communication among boys. Fathers appeared to report lower conformity to traditional masculine norms post-program, in addition to more open communication. Qualitative interviews identified three main themes: enabling relational bonds, creating a men-specific context, and supporting developmental transitions. Conclusions Positive program acceptability and promising outcome effects highlighted the present rite of passage program as a promising mechanism for supporting healthy masculine identity development among adolescent males. Finally, limitations and future directions are discussed, particularly in terms of gender equality integration for rite of passage programs.

Published
2021

18. The DNA sequence of the human X chromosome

Author

Ross, Mark T., Grafham, Darren V., Coffey, Alison J., Scherer, Steven, McLay, Kirsten, Muzny, Donna, Platzer, Matthias, Howell, Gareth R., Burrows, Christine, Bird, Christine P., Frankish, Adam, Lovell, Frances L., Howe, Kevin L., Ashurst, Jennifer L., Fulton, Robert S., Sudbrak, Ralf, Wen, Gaiping, Jones, Matthew C., Hurles, Matthew E., Andrews, T. Daniel, Scott, Carol E., Searle, Stephen, Ramser, Juliane, Whittaker, Adam, Deadman, Rebecca, Carter, Nigel P., Hunt, Sarah E., Chen, Rui, Cree, Andrew, Gunaratne, Preethi, Havlak, Paul, Hodgson, Anne, Metzker, Michael L., Richards, Stephen, Scott, Graham, Steffen, David, Sodergren, Erica, Wheeler, David A., Worley, Kim C., Ainscough, Rachael, Ambrose, Kerrie D., Ansari-Lari, M. Ali, Aradhya, Swaroop, Ashwell, Robert I. S., Babbage, Anne K., Bagguley, Claire L., Ballabio, Andrea, Banerjee, Ruby, Barker, Gary E., Barlow, Karen F., Barrett, Ian P., Bates, Karen N., Beare, David M., Beasley, Helen, Beasley, Oliver, Beck, Alfred, Bethel, Graeme, Blechschmidt, Karin, Brady, Nicola, Bray-Allen, Sarah, Bridgeman, Anne M., Brown, Andrew J., Brown, Mary J., Bonnin, David, Bruford, Elspeth A., Buhay, Christian, Burch, Paula, Burford, Deborah, Burgess, Joanne, Burrill, Wayne, Burton, John, Bye, Jackie M., Carder, Carol, Carrel, Laura, Chako, Joseph, Chapman, Joanne C., Chavez, Dean, Chen, Ellson, Chen, Guan, Chen, Yuan, Chen, Zhijian, Chinault, Craig, Ciccodicola, Alfredo, Clark, Sue Y., Clarke, Graham, Clee, Chris M., Clegg, Sheila, Clerc-Blankenburg, Kerstin, Clifford, Karen, Cobley, Vicky, Cole, Charlotte G., Conquer, Jen S., Corby, Nicole, Connor, Richard E., David, Robert, Davies, Joy, Davis, Clay, Davis, John, Delgado, Oliver, DeShazo, Denise, Dhami, Pawandeep, Ding, Yan, Dinh, Huyen, Dodsworth, Steve, Draper, Heather, Dugan-Rocha, Shannon, Dunham, Andrew, Dunn, Matthew, Durbin, K. James, Dutta, Ireena, Eades, Tamsin, Ellwood, Matthew, Emery-Cohen, Alexandra, Errington, Helen, Evans, Kathryn L., Faulkner, Louisa, Francis, Fiona, Frankland, John, Fraser, Audrey E., Galgoczy, Petra, Gilbert, James, Gill, Rachel, Glockner, Gernot, Gregory, Simon G., Gribble, Susan, Griffiths, Coline, Grocock, Russell, Gu, Yanghong, Gwilliam, Rhian, Hamilton, Cerissa, Hart, Elizabeth A., Hawes, Alicia, Heath, Paul D., Heitmann, Katja, Hennig, Steffen, Hernandez, Judith, Hinzmann, Bernd, Ho, Sarah, Hoffs, Michael, Howden, Phillip J., Huckle, Elizabeth J., Hume, Jennifer, Hunt, Paul J., Hunt, Adrienne R., Isherwood, Judith, Jacob, Leni, Johnson, David, Jones, Sally, de Jong, Pieter J., Joseph, Shirin S., Keenan, Stephen, Kelly, Susan, Kershaw, Joanne K., Khan, Ziad, Kioschis, Petra, Klages, Sven, Knights, Andrew J., Kosiura, Anna, Kovar-Smith, Christie, Laird, Gavin K., Langford, Cordelia, Lawlor, Stephanie, Leversha, Margaret, Lewis, Lora, Liu, Wen, Lloyd, Christine, Lloyd, David M., Loulseged, Hermela, Loveland, Jane E., Lovell, Jamieson D., Lozado, Ryan, Lu, Jing, Lyne, Rachael, Ma, Jie, Maheshwari, Manjula, Matthews, Lucy H., McDowall, Jennifer, McLaren, Stuart, McMurray, Amanda, Meidl, Patrick, Meitinger, Thomas, Milne, Sarah, Miner, George, Mistry, Shailesh L., Morgan, Margaret, Morris, Sidney, Muller, Ines, Mullikin, James C., Nguyen, Ngoc, Nordsiek, Gabriele, Nyakatura, Gerald, O'Dell, Christopher N., Okwuonu, Geoffery, Palmer, Sophie, Pandian, Richard, Parker, David, Parrish, Julia, Pasternak, Shiran, Patel, Dina, Pearce, Alex V., Pearson, Danita M., Pelan, Sarah E., Perez, Lesette, Porter, Keith M., Ramsey, Yvonne, Reichwald, Kathrin, Rhodes, Susan, Ridler, Kerry A., Schlessinger, David, Schueler, Mary G., Sehra, Harminder K., Shaw-Smith, Charles, Shen, Hua, Sheridan, Elizabeth M., Shownkeen, Ratna, Skuce, Carl D., Smith, Michelle L., Sotheran, Elizabeth C., Steingruber, Helen E., Steward, Charles A., Storey, Roy, Swann, R. Mark, Swarbreck, David, Tabor, Paul E., Taudien, Stefan, Taylor, Tineace, Teague, Brian, Thomas, Karen, Thorpe, Andrea, Timms, Kirsten, Tracey, Alan, Trevanion, Steve, Tromans, Anthony C., d'Urso, Michele, Verduzco, Daniel, Villasana, Donna, Waldron, Lenee, Wall, Melanie, Wang, Qiaoyan, Warren, James, Warry, Georgina L., Wei, Xuehong, West, Anthony, Whitehead, Siobhan L., Whiteley, Mathew N., Wilkinson, Jane E., Willey, David L., Williams, Gabrielle, Williams, Leanne, Williamson, Angela, Williamson, Helen, Wilming, Laurens, Woodmansey, Rebecca L., Wray, Paul W., Yen, Jennifer, Zhang, Jingkun, Zhou, Jianling, Zoghbi, Huda, Zorilla, Sara, Buck, David, Reinhardt, Richard, Poustka, Annemarie, Rosenthal, Andre, Lehrach, Hans, Meindl, Alfons, Minx, Patrick J., Hillier, LaDeana W., Willard, Huntington F., Wilson, Richard K., Waterston, Robert H., Rice, Catherine M., Vaudin, Mark, Coulson, Alan, Nelson, David L., Weinstock, George, Sulston, John E., Durbin, Richard, Hubbard, Tim, Gibbs, Richard A., Beck, Stephan, Rogers, Jane, and Bentley, David R.

Subjects
Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Author(s): Mark T. Ross (corresponding author) [1]; Darren V. Grafham [1]; Alison J. Coffey [1]; Steven Scherer [2]; Kirsten McLay [1]; Donna Muzny [2]; Matthias Platzer [3]; Gareth R. Howell [...]

Published
2005
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19. Using Remotely Sensed Data and Hydrologic Models to Evaluate the Effects of Climate Change on Shallow Aquatic Ecosystems in the Mobile Bay, AL Estuary

Author

Estes, M. G, Al-Hamdan, M. Z, Thom, R, Judd, C, Woodruff, D, Ellis, J. T, Quattrochi, D, and Swann, R

Subjects
Meteorology And Climatology
Abstract

Coastal systems in the northern Gulf of Mexico, including the Mobile Bay, AL estuary, are subject to increasing pressure from a variety of activities including climate change. Climate changes have a direct effect on the discharge of rivers that drain into Mobile Bay and adjacent coastal water bodies. The outflows change water quality (temperature, salinity, and sediment concentrations) in the shallow aquatic areas and affect ecosystem functioning. Mobile Bay is a vital ecosystem that provides habitat for many species of fauna and flora. Historically, submerged aquatic vegetation (SAV) and seagrasses were found in this area of the northern Gulf of Mexico; however the extent of vegetation has significantly decreased over the last 60 years. The objectives of this research are to determine: how climate changes affect runoff and water quality in the estuary and how these changes will affect habitat suitability for SAV and seagrasses. Our approach is to use watershed and hydrodynamic modeling to evaluate the impact of climate change on shallow water aquatic ecosystems in Mobile Bay and adjacent coastal areas. Remotely sensed Landsat data were used for current land cover land use (LCLU) model input and the data provided by Intergovernmental Panel on Climate Change (IPCC) of the future changes in temperature, precipitation, and sea level rise were used to create the climate scenarios for the 2025 and 2050 model simulations. Project results are being shared with Gulf coast stakeholders through the Gulf of Mexico Data Atlas to benefit coastal policy and climate change adaptation strategies.

Published
2012

25. Phase III Trial of an Emulsion Containing Trolamine for the Prevention of Radiation Dermatitis in Patients With Advanced Squamous Cell Carcinoma of the Head and Neck: Results of Radiation Therapy Oncology Group Trial 99-13

Author

Elliott, Elizabeth A., Wright, James R., Swann, R Suzanne, Nguyen-Tân, Felix, Takita, Cristiane, Bucci, M Kara, Garden, Adam S., Kim, Harold, Hug, Eugen B., Ryu, Janice, Greenberg, Michael, Saxton, Jerrold P., Ang, Kian, and Berk, Lawrence

Published
2006
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27. Developing young men's wellbeing through community and school-based programs: A systematic review

Author

Duplaga, M, Gwyther, K, Swann, R, Casey, K, Purcell, R, Rice, SM, Duplaga, M, Gwyther, K, Swann, R, Casey, K, Purcell, R, and Rice, SM

Abstract

Boys and young men have unique health-related needs that may be poorly met by existing programs and initiatives. The mismatch between the needs of boys and young men and current service offerings-driven largely by social determinants of health such as masculinity-may stymie health status. This is evidenced through high rates of self-stigma, accidental death or suicide, and low rates of help seeking and health literacy among populations of boys and young men. With growing interest in improving wellbeing and educational outcomes for all young people (including boys and young men), this systematic review aimed to evaluate community and school-based programs with specific focus on program features and outcomes directly relevant to young males aged 12-25 years. Five data-bases were searched; Medline, EMBASE, PsycInfo, ERIC, and ERAD. Articles were included if they evaluated an intervention or program with a general or at-risk sample of young men, and measured a psychological, psychosocial, masculinity, or educational outcome. The majority of the 40 included studies had high quality reporting (62.5%). Synthesised data included theoretical frameworks, intervention characteristics, outcomes, and key results. Of the included studies, 14 were male-focussed programs, with masculinity approaches directed towards program aims and content information. The emergent trend indicated that male-targeted interventions may be more beneficial for young men than gender-neutral programs, however, none of these studies incorporated masculine-specific theory as an overarching framework. Furthermore, only three studies measured masculine-specific variables. Studies were limited by a lack of replication and program refinement approaches. It is concluded that there is significant scope for further development of community and school-based health promotion programs that target young men through incorporation of frameworks that consider the impact of gendered social and environmental determinants

Published
2019

32. Impact of previous hepatitis B infection on the clinical outcomes from chronic hepatitis C? A population-level analysis

Author

Wang, H., primary, Swann, R., additional, Thomas, E., additional, Innes, H. A., additional, Valerio, H., additional, Hayes, P. C., additional, Allen, S., additional, Barclay, S. T., additional, Wilks, D., additional, Fox, R., additional, Bhattacharyya, D., additional, Kennedy, N., additional, Morris, J., additional, Fraser, A., additional, Stanley, A. J., additional, Gunson, R., additional, Mclntyre, P. G., additional, Hunt, A., additional, Hutchinson, S. J., additional, Mills, P. R., additional, and Dillon, J. F., additional

Published
2018
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35. Neurohypophysial Peptides in the Gonads

Author

Pickering, B. T., Birkett, Sonia D., Charlton, H. M., Guldenaar, S. E. F., Nicholson, Helen D., O’Shaughnessy, P. J., Swann, R. W., Wathes, D. Claire, Worley, R. T. S., McKerns, Kenneth W., editor, Fink, G., editor, and Harmar, A. J., editor

Published
1986
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39. Soil degradation studies

Author

Laskowski, D. A., Swann, R. L., McCall, P. J., Bidlack, H. D., Gunther, Francis A., editor, and Gunther, Jane Davies, editor

Published
1983
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40. Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

Author

Mavaddat, N., Pharoah, P.D.P., Michailidou, K., Tyrer, J., Brook, M.N., Bolla, M.K., Wang, Q., Dennis, J., Dunning, A.M., Shah, M., Luben, R., Brown, J., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Czene, K., Darabi, H., Eriksson, M., Peto, J., dos-Santos-Silva, I., Dudbridge, F., Johnson, N., Schmidt, M.K., Broeks, A., Verhoef, S., Rutgers, E.J., Swerdlow, A., Ashworth, A., Orr, N., Schoemaker, M.J., Figueroa, J., Chanock, S.J., Brinton, L., Lissowska, J., Couch, F.J., Olson, J.E., Vachon, C., Pankratz, V.S., Lambrechts, D., Wildiers, H., Ongeval, C. van, Limbergen, E. van, Kristensen, V., Alnaes, G.G., Nord, S., Borresen-Dale, A.L., Nevanlinna, H., Muranen, T.A., Aittomaki, K., Blomqvist, C., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Fasching, P.A., Haeberle, L., Ekici, A.B., Beckmann, M.W., Burwinkel, B., Marme, F., Schneeweiss, A., Sohn, C., Trentham-Dietz, A., Newcomb, P., Titus, L., Egan, K.M., Hunter, D.J., Lindstrom, S., Tamimi, R.M., Kraft, P., Rahman, N., Turnbull, C., Renwick, A., Seal, S., Li, J.M., Liu, J.J., Humphreys, K., Benitez, J., Zamora, M.P., Perez, J.I.A., Menendez, P., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Bogdanova, N.V., Antonenkova, N.N., Dork, T., Anton-Culver, H., Neuhausen, S.L., Ziogas, A., Bernstein, L., Devilee, P., Tollenaar, R.A.E.M., Seynaeve, C., Asperen, C.J. van, Cox, A., Cross, S.S., Reed, M.W.R., Khusnutdinova, E., Bermisheva, M., Prokofyeva, D., Takhirova, Z., Meindl, A., Schmutzler, R.K., Sutter, C., Yang, R.X., Schurmann, P., Bremer, M., Christiansen, H., Park-Simon, T.W., Hillemanns, P., Guenel, P., Truong, T., Menegaux, F., Sanchez, M., Radice, P., Peterlongo, P., Manoukian, S., Pensotti, V., Hopper, J.L., Tsimiklis, H., Apicella, C., Southey, M.C., Brauch, H., Bruning, T., Ko, Y.D., Sigurdson, A.J., Doody, M.M., Hamann, U., Torres, D., Ulmer, H.U., Forsti, A., Sawyer, E.J., Tomlinson, I., Kerin, M.J., Miller, N., Andrulis, I.L., Knight, J.A., Glendon, G., Mulligan, A.M., Chenevix-Trench, G., Balleine, R., Giles, G.G., Milne, R.L., McLean, C., Lindblom, A., Margolin, S., Haiman, C.A., Henderson, B.E., Schumacher, F., Marchand, L. le, Eilber, U., Wang-Gohrke, S., Hooning, M.J., Hollestelle, A., Ouweland, A.M.W. van den, Koppert, L.B., Carpenter, J., Clarke, C., Scott, R., Mannermaa, A., Kataja, V., Kosma, V.M., Hartikainen, J.M., Brenner, H., Arndt, V., Stegmaier, C., Dieffenbach, A.K., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Grip, M., Offit, K., Vijai, J., Robson, M., Rau-Murthy, R., Dwek, M., Swann, R., Perkins, K.A., Goldberg, M.S., Labreche, F., Dumont, M., Eccles, D.M., Tapper, W.J., Rafiq, S., John, E.M., Whittemore, A.S., Slager, S., Yannoukakos, D., Toland, A.E., Yao, S., Zheng, W., Halverson, S.L., Gonzalez-Neira, A., Pita, G., Alonso, M.R., Alvarez, N., Herrero, D., Tessier, D.C., Vincent, D., Bacot, F., Luccarini, C., Baynes, C., Ahmed, S., Maranian, M., Healey, C.S., Simard, J., Hall, P., Easton, D.F., Garcia-Closas, M., Clinical Genetics, Medical Oncology, Surgery, Department of Obstetrics and Gynecology, Clinicum, Medicum, Kristiina Aittomäki / Principal Investigator, Department of Medical and Clinical Genetics, Department of Oncology, HUS Gynecology and Obstetrics, Mavaddat, Nasim [0000-0003-0307-055X], Pharoah, Paul [0000-0001-8494-732X], Tyrer, Jonathan [0000-0003-3724-4757], Wang, Jean [0000-0002-9139-0627], Dennis, Joe [0000-0003-4591-1214], Dunning, Alison [0000-0001-6651-7166], Luben, Robert [0000-0002-5088-6343], Easton, Douglas [0000-0003-2444-3247], and Apollo - University of Cambridge Repository

Subjects
Adult, Genotype, 3122 Cancers, Breast Neoplasms, consortium, Polymorphism, Single Nucleotide, Risk Assessment, Article, prevention, SDG 3 - Good Health and Well-being, Predictive Value of Tests, Risk Factors, 3123 Gynaecology and paediatrics, Biomarkers, Tumor, Odds Ratio, Humans, Genetic Predisposition to Disease, family-history, Aged, prostate, Gene Expression Profiling, subtypes, Middle Aged, susceptibility loci, Europe, Gene Expression Regulation, Neoplastic, Receptors, Estrogen, Tumor Markers, Biological, Cancer and Oncology, genome-wide association, Female, women
Abstract

Background: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at different levels of breast cancer risk. Such stratification could guide preventive and screening strategies. However, empirical evidence for genetic risk stratification is lacking. Methods: We investigated the value of using 77 breast cancer-associated single nucleotide polymorphisms (SNPs) for risk stratification, in a study of 33 673 breast cancer cases and 33 381 control women of European origin. We tested all possible pair-wise multiplicative interactions and constructed a 77-SNP polygenic risk score (PRS) for breast cancer overall and by estrogen receptor (ER) status. Absolute risks of breast cancer by PRS were derived from relative risk estimates and UK incidence and mortality rates. Results: There was no strong evidence for departure from a multiplicative model for any SNP pair. Women in the highest 1 of the PRS had a three-fold increased risk of developing breast cancer compared with women in the middle quintile (odds ratio [OR] = 3.36, 95% confidence interval [CI] = 2.95 to 3.83). The ORs for ER-positive and ER-negative disease were 3.73 (95% CI = 3.24 to 4.30) and 2.80 (95% CI = 2.26 to 3.46), respectively. Lifetime risk of breast cancer for women in the lowest and highest quintiles of the PRS were 5.2% and 16.6% for a woman without family history, and 8.6% and 24.4% for a woman with a first-degree family history of breast cancer. Conclusions: The PRS stratifies breast cancer risk in women both with and without a family history of breast cancer. The observed level of risk discrimination could inform targeted screening and prevention strategies. Further discrimination may be achievable through combining the PRS with lifestyle/environmental factors, although these were not considered in this report. © 2015 © The Author 2015. Published by Oxford University Press.

Published
2015

41. Overall survival in COMBI-d, a randomized, double-blinded, phase III study comparing the combination of dabrafenib and trametinib with dabrafenib and placebo as first-line therapy in patients (pts) with unresectable or metastatic BRAF V600E/K mutation-positive cutaneous melanoma

Author

Long, Georgina V. Stroyakovskiy, Daniil Gogas, Helen and Levchenko, Evgeny De Braud, Filippo G. Larkin, James M. G. and Garbe, Claus Jouary, Thomas Hauschild, Axel Grob, Jean Jacques Chiarion-Sileni, Vanna Lebbe, Celeste Mandala, Mario and Millward, Michael DeMarini, Douglas James Irani, Jhangir G. and Jin, Fan Swann, R. Suzanne Mookerjee, Bijoyesh Flaherty, Keith

Published
2015

42. Refined histopathological predictors of BRCA1\ud and BRCA2 mutation status: a large-scale analysis\ud of breast cancer characteristics from the BCAC,\ud CIMBA, and ENIGMA consortia

Author

Spurdle, A.B., Couch, F.J., Parsons, M.T., McGuffog, L., Barrowdale, D., Bolla, M.K., Wang, Q., Healey, S., Schmutzler, R.K., Wappenschmidt, B., Rhiem, K., Hahnen, E., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Plendl, H., Niederacher, D., Sutter, C., Wang-Gohrke, S., Steinemann, D., Preisler-Adams, S., Kast, K., Varon-Mateeva, R., Ellis, S., Frost, D., Platte, R., Perkins, J., Evans, D.G., Izatt, L., Eeles, R., Adlard, J., Davidson, R., Cole, T., Scuvera, G., Manoukian, S., Bonanni, B., Mariette, F., Fortuzzi, S., Viel, A., Pasini, B., Papi, L., Varesco, L., Balleine, R., Nathanson, K.L., Domchek, S.M., Offitt, K., Jakubowska, A., Lindor, N., Thomassen, M., Jensen, U.B., Rantala, J., Borg, A., Andrulis, I.L., Miron, A., Hansen, T.V.O., Caldes, T., Neuhausen, S.L., Toland, A.E., Nevanlinna, H., Montagna, M., Garber, J., Godwin, A.K., Osorio, A., Factor, R.E., Terry, M.B., Rebbeck, T.R., Karlan, B.Y., Southey, M., Rashid, M.U., Tung, N., Pharoah, P.D.P., Blows, F.M., Dunning, A.M., Provenzano, E., Hall, P., Czene, K., Schmidt, M.K., Broeks, A., Cornelissen, S., Verhoef, S., Fasching, P.A., Beckmann, M.W., Ekici, A.B., Slamon, D.J., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Chang-Claude, J., Flesch-Janys, D., Rudolph, A., Seibold, P., Aittomaki, K., Muranen, T.A., Heikkila, P., Blomqvist, C., Figueroa, J., Chanock, S.J., Brinton, L., Lissowska, J., Olson, J.E., Pankratz, V.S., John, E.M., Whittemore, A.S., West, D.W., Hamann, U., Torres, D., Ulmer, H.U., Rudiger, T., Devilee, P., Tollenaar, R.A.E.M., Seynaeve, C., Van Asperen, C.J., Eccles, D.M., Tapper, W.J., Durcan, L., Jones, L., Peto, J., dos-Santos-Silva, I., Fletcher, O., Johnson, N., Dwek, M., Swann, R., Bane, A.L., Glendon, G., Mulligan, A.M., Giles, G.G., Milne, R.L., Baglietto, L., McLean, C., Carpenter, J., Clarke, C., Scott, R., Brauch, H., Bruning, T., Ko, Y-D., Cox, A., Cross, S.S., Reed, M.W.R., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Gronwald, J., Dork, T., Bogdanova, N., Park-Simon, T-W., Hillemanns, P., Haiman, C.A., Henderson, B.E., Schumacher, F., Le Marchand, L., Burwinkel, B., Marme, F., Surovy, H., Yang, R., Anton-Culver, H., Ziogas, A., Hooning, M.J., Collee, J.M., Martens, J.W.M., Tilanus-Linthorst, M.M.A., Brenner, H., Dieffenbach, A.K., Arndt, V., Stegmaier, C., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Grip, M., Lindblom, A., Margolin, S., Joseph, V., Robson, M., Rau-Murthy, R., Gonzalez-Neira, A., Arias, J.I., Zamora, P., Benitez, J., Mannermaa, A., Kataja, V., Kosma, V-M., Hartikainen, J.M., Peterlongo, P., Zaffaroni, D., Barile, M., Capra, F., Radice, P., Teo, S.H., Easton, D.F., Antoniou, A.C., Chenevix-Trench, G., Goldgar, D.E., Investigators, ABCTB, Group, EMBRACE, Network, GENICA, Group, HEBON, and Investigators, KConFab

Subjects
endocrine system diseases, skin and connective tissue diseases
Abstract

Introduction: The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline\ud mutation carriers differs from that of individuals with no known mutation. Histopathological features thus have\ud utility for mutation prediction, including statistical modeling to assess pathogenicity of BRCA1 or BRCA2 variants of\ud uncertain clinical significance. We analyzed large pathology datasets accrued by the Consortium of Investigators of\ud Modifiers of BRCA1/2 (CIMBA) and the Breast Cancer Association Consortium (BCAC) to reassess histopathological\ud predictors of BRCA1 and BRCA2 mutation status, and provide robust likelihood ratio (LR) estimates for statistical\ud modeling.\ud Methods: Selection criteria for study/center inclusion were estrogen receptor (ER) status or grade data available for\ud invasive breast cancer diagnosed younger than 70 years. The dataset included 4,477 BRCA1 mutation carriers, 2,565\ud BRCA2 mutation carriers, and 47,565 BCAC breast cancer cases. Country-stratified estimates of the likelihood of\ud mutation status by histopathological markers were derived using a Mantel-Haenszel approach.\ud Results: ER-positive phenotype negatively predicted BRCA1 mutation status, irrespective of grade (LRs from 0.08 to\ud 0.90). ER-negative grade 3 histopathology was more predictive of positive BRCA1 mutation status in women 50 years\ud or older (LR = 4.13 (3.70 to 4.62)) versus younger than 50 years (LR = 3.16 (2.96 to 3.37)). For BRCA2, ER-positive grade 3\ud phenotype modestly predicted positive mutation status irrespective of age (LR = 1.7-fold), whereas ER-negative grade 3\ud features modestly predicted positive mutation status at 50 years or older (LR = 1.54 (1.27 to 1.88)). Triple-negative tumor\ud status was highly predictive of BRCA1 mutation status for women younger than 50 years (LR = 3.73 (3.43 to 4.05)) and\ud 50 years or older (LR = 4.41 (3.86 to 5.04)), and modestly predictive of positive BRCA2 mutation status in women 50 years\ud or older (LR = 1.79 (1.42 to 2.24)).\ud Conclusions: These results refine likelihood-ratio estimates for predicting BRCA1 and BRCA2 mutation status by using\ud commonly measured histopathological features. Age at diagnosis is an important variable for most analyses, and grade is\ud more informative than ER status for BRCA2 mutation carrier prediction. The estimates will improve BRCA1 and BRCA2\ud variant classification and inform patient mutation testing and clinical management.

Published
2014

43. Anti-envelope antibody responses in individuals at high risk of hepatitis C virus who resist infection

Author

Swann, R. E., Mandalou, P., Robinson, Mark W., Ow, M. M., Foung, S. K. H., McLauchlan, J., Patel, A. H., Cramp, M. E., Swann, R. E., Mandalou, P., Robinson, Mark W., Ow, M. M., Foung, S. K. H., McLauchlan, J., Patel, A. H., and Cramp, M. E.

Abstract

Injection drug users uninfected by hepatitis C virus (HCV) despite likely repeated exposure through high-risk behaviour are well documented. Factors preventing infection in these individuals are incompletely understood. Here, we looked for anti-HCV-envelope antibody responses in a cohort of repeatedly exposed but uninfected subjects. Forty-two hepatitis C diagnostic antibody- and RNA-negative injection drug users at high risk of exposure were studied and findings compared to healthy controls and cases with chronic HCV infection. Purified IgGs from sera were tested by ELISA for binding to genotype 1a and 3a envelope glycoproteins E1E2 with further testing for IgG and IgM reactivity against soluble E2. Virus-neutralizing activity was assessed using an HCV pseudoparticle system. Uninfected subjects demonstrated significantly greater IgG and IgM reactivities to envelope glycoproteins than healthy controls with IgG from 6 individuals additionally showing significant neutralization. This study is the first to describe humoral immunological responses targeting the HCV envelope, important for viral neutralization, in exposed uninfected individuals. A subset of these cases also had evidence of viral neutralization via anti-envelope antibodies. In addition to confirming viral exposure, the presence of specific anti-envelope antibodies may be a factor that helps these individuals resist HCV infection.

Published
2016

44. Genetic Predisposition to In Situ and Invasive Lobular\ud Carcinoma of the Breast

Author

Sawyer, E., Roylance, R., Petridis, C., Brook, M.N., Nowinski, S., Papouli, E., Fletcher, O., Pinder, S., Hanby, A., Kohut, K., Gorman, P., Caneppele, M., Peto, J., Silva, I.D.S., Johnson, N., Swann, R., Dwek, M., Perkins, K-A., Gillett, C., Houlston, R., Ross, G., De Ieso, P., Southey, M.C., Hopper, J.L., Provenzano, E., Apicella, C., Wesseling, J., Cornelissen, S., Keeman, R., Fasching, P.A., Jud, S.M., Ekici, A.B., Beckmann, M.W., Kerin, M.J., Marme, F., Schneeweiss, A., Sohn, C., Burwinkel, B., Guenel, P., Truong, T., Laurent-Puig, P., Kerbrat, P., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Milne, R.L., Perez, J.I.A., Menendez, P., Benitez, J., Brenner, H., Dieffenbach, A.K., Arndt, V., Stegmaier, C., Meindl, A., Lichtner, P., Schmutzler, R.K., Lochmann, M., Brauch, H., Fischer, H-P., Ko, Y-D., Nevanlinna, H., Muranen, T.A., Aittomaki, K., Blomqvist, C., Bogdanova, N.V., Dork, T., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V-M., Hartikainen, J.M., Chenevix-Trench, G., Lambrechts, D., Weltens, C., Van Limbergen, E., Hatse, S., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Radice, P., Peterlongo, P., Bonanni, B., Volorio, S., Giles, G.G., Severi, G., Baglietto, L., Mclean, C.A., Haiman, C.A., Henderson, B.E., Schumacher, F., Le Marchand, L., Simard, J., Goldberg, M.S., Labreche, F., Dumont, M., Kristensen, V., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Kauppila, S., Andrulis, I.L., Knight, J.A., Glendon, G., Mulligan, A.M., Devillee, P., Tollenaar, R.A.E.M., Seynaeve, C.M., Kriege, M., Figueroa, J., Chanock, S.J., Sherman, M.E., Hooning, M.J., Hollestelle, A., van den Ouweland, A.M.W., van Deurzen, C.H.M., Li, J., Czene, K., Humphreys, K., Cox, A., Cross, S.S., Reed, M.W.R., Shah, M., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Swerdlow, A., Ashworth, A., Orr, N., Schoemaker, M., Couch, F.J., Hallberg, E., Gonzalez-Neira, A., Pita, G., Alonso, M.R., Tessier, D.C., Vincent, D., Bacot, F., Bolla, M.K., Wang, Q., Dennis, J., Michailidou, K., Dunning, A.M., Hall, P., Easton, D., Pharoah, P., Schmidt, M.K., Tomlinson, I., Garcia-Closas, M., Network, GENICA, and Investigators, K

Subjects
body regions, skin and connective tissue diseases
Abstract

Invasive lobular breast cancer (ILC) accounts for 10–15% of all invasive breast carcinomas. It is generally ER positive (ER+) and\ud often associated with lobular carcinoma in situ (LCIS). Genome-wide association studies have identified more than 70 common\ud polymorphisms that predispose to breast cancer, but these studies included predominantly ductal (IDC) carcinomas. To\ud identify novel common polymorphisms that predispose to ILC and LCIS, we pooled data from 6,023 cases (5,622 ILC, 401 pure\ud LCIS) and 34,271 controls from 36 studies genotyped using the iCOGS chip. Six novel SNPs most strongly associated with ILC/\ud LCIS in the pooled analysis were genotyped in a further 516 lobular cases (482 ILC, 36 LCIS) and 1,467 controls. These analyses\ud identified a lobular-specific SNP at 7q34 (rs11977670, OR (95%CI) for ILC = 1.13 (1.09–1.18), P = 6.0610210; P-het for ILC vs IDC\ud ER+ tumors = 1.861024\ud ). Of the 75 known breast cancer polymorphisms that were genotyped, 56 were associated with ILC and\ud 15 with LCIS at P,0.05. Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/FGFR2, Phet\ud = 0.04 and rs889312/5q11/MAP3K1, P-het = 0.03); and two showed stronger associations for LCIS than ILC (rs6678914/1q32/\ud LGR6, P-het = 0.001 and rs1752911/6q14, P-het = 0.04). In addition, seven of the 75 known loci showed significant differences\ud between ER+ tumors with IDC and ILC histology, three of these showing stronger associations for ILC (rs11249433/1p11,\ud rs2981579/10q26/FGFR2 and rs10995190/10q21/ZNF365) and four associated only with IDC (5p12/rs10941679; rs2588809/\ud 14q24/RAD51L1, rs6472903/8q21 and rs1550623/2q31/CDCA7). In conclusion, we have identified one novel lobular breast\ud cancer specific predisposition polymorphism at 7q34, and shown for the first time that common breast cancer polymorphisms\ud predispose to LCIS. We have shown that many of the ER+ breast cancer predisposition loci also predispose to ILC, although\ud there is some heterogeneity between ER+ lobular and ER+ IDC tumors. These data provide evidence for overlapping, but\ud distinct etiological pathways within ER+ breast cancer between morphological subtypes.

Published
2014

46. Abstract OT1-03-12: MANTA: A randomized phase II study of fulvestrant in combination with the dual mTOR inhibitor AZD2014 or everolimus or fulvestrant alone in estrogen receptor-positive advanced or metastatic breast cancer

Author

Schmid, P, primary, Ferreira, M, additional, Dubey, S, additional, Zaiss, M, additional, Harper-Wynne, C, additional, Makris, A, additional, Brown, V, additional, Kristeleit, H, additional, Patel, G, additional, Perelló, A, additional, Jones, A, additional, Mithal, N, additional, Ruiz, I, additional, Kümmel, S, additional, Brunt, AM, additional, Guerra, JA, additional, Gonzalez Cao, M, additional, Saura, C, additional, Mousa, K, additional, Sarker, S-J, additional, Coetzee, C, additional, Swann, R, additional, and Cortes, J, additional

Published
2016
Full Text
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47. Prediction of breast cancer risk based on profiling with common genetic variants

Author

Mavaddat, N. (Nasim), Pharoah, P.D.P. (Paul), Michailidou, K. (Kyriaki), Tyrer, J.P. (Jonathan), Brook, M.N. (Mark N.), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Dunning, A.M. (Alison), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune F.), Flyger, H. (Henrik), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mikael), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Dudbridge, F. (Frank), Johnson, N. (Nichola), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Verhoef, S., Rutgers, E.J. (Emiel J.), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Brinton, L.A. (Louise), Lissowska, J. (Jolanta), Couch, F.J. (Fergus), Olson, J.E. (Janet), Vachon, C. (Celine), Pankratz, V.S. (Shane), Lambrechts, D. (Diether), Wildiers, H. (Hans), van Ongeval, C. (Chantal), Limbergen, E. (Erik) van, Kristensen, V. (Vessela), Grenaker Alnæs, G. (Grethe), Nord, S. (Silje), Borresen-Dale, A.-L. (Anne-Lise), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Trentham-Dietz, A. (Amy), Newcomb, P. (Polly), Titus, L. (Linda), Egan, K.M. (Kathleen M.), Hunter, D. (David), Lindstrom, S. (Stephen), Tamimi, R. (Rulla), Kraft, P. (Peter), Rahman, N. (Nazneen), Turnbull, C. (Clare), Renwick, A. (Anthony), Seal, S. (Sheila), Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Benítez, J. (Javier), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Menéndez, P. (Primitiva), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Dörk, T. (Thilo), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Khusnutdinova, E.K. (Elza), Bermisheva, M. (Marina), Prokofyeva, D. (Darya), Takhirova, Z. (Zalina), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Sutter, C. (Christian), Yang, R. (Rongxi), Schürmann, P. (Peter), Bremer, M. (Michael), Christiansen, H. (Hans), Park-Simon, T.-W., Hillemanns, P. (Peter), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Pensotti, V. (Valeria), Hopper, J. (John), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Southey, M.C. (Melissa), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y.-D. (Yon-Dschun), Sigurdson, A.J. (Alice), Doody, M.M. (Michele M.), Hamann, U. (Ute), Torres, D. (Diana), Ulmer, H.U. (Hans), Försti, A. (Asta), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Chenevix-Trench, G. (Georgia), Balleine, R. (Rosemary), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Lindblom, A. (Annika), Margolin, S. (Sara), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F. (Fredrick), Le Marchand, L. (Loic), Eilber, U. (Ursula), Wang-Gohrke, S. (Shan), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Ouweland, A.M.W. (Ans) van den, Koppert, L.B. (Linetta), Carpenter, J. (Jane), Clarke, C. (Christine), Scott, R.J. (Rodney J.), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Brenner, H. (Hermann), Arndt, V. (Volker), Stegmaier, C. (Christa), Karina Dieffenbach, A. (Aida), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Offit, K. (Kenneth), Vijai, J. (Joseph), Robson, M. (Mark), Rau-Murthy, R. (Rohini), Dwek, M. (Miriam), Swann, R. (Ruth), Perkins, K.A. (Katherine), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Eccles, D. (Diana), Tapper, W. (William), Rafiq, M. (Meena), John, E.M. (Esther M.), Whittemore, A.S. (Alice), Slager, S. (Susan), Yannoukakos, D. (Drakoulis), Toland, A.E. (Amanda), Yao, S. (Song), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), González-Neira, A. (Anna), Pita, G. (Guillermo), Rosario Alonso, M., Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Maranian, M. (Melanie), Healey, S. (Sue), Simard, J. (Jacques), Hall, P. (Per), Easton, D.F. (Douglas), García-Closas, M. (Montserrat), Mavaddat, N. (Nasim), Pharoah, P.D.P. (Paul), Michailidou, K. (Kyriaki), Tyrer, J.P. (Jonathan), Brook, M.N. (Mark N.), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Dunning, A.M. (Alison), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune F.), Flyger, H. (Henrik), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mikael), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Dudbridge, F. (Frank), Johnson, N. (Nichola), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Verhoef, S., Rutgers, E.J. (Emiel J.), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Brinton, L.A. (Louise), Lissowska, J. (Jolanta), Couch, F.J. (Fergus), Olson, J.E. (Janet), Vachon, C. (Celine), Pankratz, V.S. (Shane), Lambrechts, D. (Diether), Wildiers, H. (Hans), van Ongeval, C. (Chantal), Limbergen, E. (Erik) van, Kristensen, V. (Vessela), Grenaker Alnæs, G. (Grethe), Nord, S. (Silje), Borresen-Dale, A.-L. (Anne-Lise), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Trentham-Dietz, A. (Amy), Newcomb, P. (Polly), Titus, L. (Linda), Egan, K.M. (Kathleen M.), Hunter, D. (David), Lindstrom, S. (Stephen), Tamimi, R. (Rulla), Kraft, P. (Peter), Rahman, N. (Nazneen), Turnbull, C. (Clare), Renwick, A. (Anthony), Seal, S. (Sheila), Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Benítez, J. (Javier), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Menéndez, P. (Primitiva), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Dörk, T. (Thilo), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Khusnutdinova, E.K. (Elza), Bermisheva, M. (Marina), Prokofyeva, D. (Darya), Takhirova, Z. (Zalina), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Sutter, C. (Christian), Yang, R. (Rongxi), Schürmann, P. (Peter), Bremer, M. (Michael), Christiansen, H. (Hans), Park-Simon, T.-W., Hillemanns, P. (Peter), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Pensotti, V. (Valeria), Hopper, J. (John), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Southey, M.C. (Melissa), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y.-D. (Yon-Dschun), Sigurdson, A.J. (Alice), Doody, M.M. (Michele M.), Hamann, U. (Ute), Torres, D. (Diana), Ulmer, H.U. (Hans), Försti, A. (Asta), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Chenevix-Trench, G. (Georgia), Balleine, R. (Rosemary), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Lindblom, A. (Annika), Margolin, S. (Sara), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F. (Fredrick), Le Marchand, L. (Loic), Eilber, U. (Ursula), Wang-Gohrke, S. (Shan), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Ouweland, A.M.W. (Ans) van den, Koppert, L.B. (Linetta), Carpenter, J. (Jane), Clarke, C. (Christine), Scott, R.J. (Rodney J.), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Brenner, H. (Hermann), Arndt, V. (Volker), Stegmaier, C. (Christa), Karina Dieffenbach, A. (Aida), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Offit, K. (Kenneth), Vijai, J. (Joseph), Robson, M. (Mark), Rau-Murthy, R. (Rohini), Dwek, M. (Miriam), Swann, R. (Ruth), Perkins, K.A. (Katherine), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Eccles, D. (Diana), Tapper, W. (William), Rafiq, M. (Meena), John, E.M. (Esther M.), Whittemore, A.S. (Alice), Slager, S. (Susan), Yannoukakos, D. (Drakoulis), Toland, A.E. (Amanda), Yao, S. (Song), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), González-Neira, A. (Anna), Pita, G. (Guillermo), Rosario Alonso, M., Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Maranian, M. (Melanie), Healey, S. (Sue), Simard, J. (Jacques), Hall, P. (Per), Easton, D.F. (Douglas), and García-Closas, M. (Montserrat)

Abstract

Background: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at different levels of breast cancer risk. Such stratification could guide preventive and screening strategies. However, empirical evidence for genetic risk stratification is lacking. Methods: We investigated the value of using 77 breast cancer-associated single nucleotide polymorphisms (SNPs) for risk stratification, in a study of 33 673 breast cancer cases and 33 381 control women of European origin. We tested all possible pair-wise multiplicative interactions and construc

Published
2015
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48. Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

Author

Mavaddat, N, Pharoah, PDP, Michailidou, K, Tyrer, J, Brook, MN, Bolla, MK, Wang, Q, Dennis, J, Dunning, AM, Shah, M, Luben, R, Brown, J, Bojesen, SE, Nordestgaard, BG, Nielsen, SF, Flyger, H, Czene, K, Darabi, H, Eriksson, M, Peto, J, dos-Santos-Silva, I, Dudbridge, F, Johnson, N, Schmidt, MK, Broeks, A, Verhoef, S, Rutgers, EJ, Swerdlow, A, Ashworth, A, Orr, N, Schoemaker, MJ, Figueroa, J, Chanock, SJ, Brinton, L, Lissowska, J, Couch, FJ, Olson, JE, Vachon, C, Pankratz, VS, Lambrechts, D, Wildiers, H, Van Ongeval, C, Van Limbergen, E, Kristensen, V, Alnaes, GG, Nord, S, Borresen-Dale, A-L, Nevanlinna, H, Muranen, TA, Aittomaeki, K, Blomqvist, C, Chang-Claude, J, Rudolph, A, Seibold, P, Flesch-Janys, D, Fasching, PA, Haeberle, L, Ekici, AB, Beckmann, MW, Burwinkel, B, Marme, F, Schneeweiss, A, Sohn, C, Trentham-Dietz, A, Newcomb, P, Titus, L, Egan, KM, Hunter, DJ, Lindstrom, S, Tamimi, RM, Kraft, P, Rahman, N, Turnbull, C, Renwick, A, Seal, S, Li, J, Liu, J, Humphreys, K, Benitez, J, Zamora, MP, Perez, JIA, Menendez, P, Jakubowska, A, Lubinski, J, Jaworska-Bieniek, K, Durda, K, Bogdanova, NV, Antonenkova, NN, Doerk, T, Anton-Culver, H, Neuhausen, SL, Ziogas, A, Bernstein, L, Devilee, P, Tollenaar, RAEM, Seynaeve, C, van Asperen, CJ, Cox, A, Cross, SS, Reed, MWR, Khusnutdinova, E, Bermisheva, M, Prokofyeva, D, Takhirova, Z, Meindl, A, Schmutzler, RK, Sutter, C, Yang, R, Schuermann, P, Bremer, M, Christiansen, H, Park-Simon, T-W, Hillemanns, P, Guenel, P, Truong, T, Menegaux, F, Sanchez, M, Radice, P, Peterlongo, P, Manoukian, S, Pensotti, V, Hopper, JL, Tsimiklis, H, Apicella, C, Southey, MC, Brauch, H, Bruening, T, Ko, Y-D, Sigurdson, AJ, Doody, MM, Hamann, U, Torres, D, Ulmer, H-U, Foersti, A, Sawyer, EJ, Tomlinson, I, Kerin, MJ, Miller, N, Andrulis, IL, Knight, JA, Glendon, G, Mulligan, AM, Chenevix-Trench, G, Balleine, R, Giles, GG, Milne, RL, McLean, C, Lindblom, A, Margolin, S, Haiman, CA, Henderson, BE, Schumacher, F, Le Marchand, L, Eilber, U, Wang-Gohrke, S, Hooning, MJ, Hollestelle, A, van den Ouweland, AMW, Koppert, LB, Carpenter, J, Clarke, C, Scott, R, Mannermaa, A, Kataja, V, Kosma, V-M, Hartikainen, JM, Brenner, H, Arndt, V, Stegmaier, C, Dieffenbach, AK, Winqvist, R, Pylkaes, K, Jukkola-Vuorinen, A, Grip, M, Offit, K, Vijai, J, Robson, M, Rau-Murthy, R, Dwek, M, Swann, R, Perkins, KA, Goldberg, MS, Labreche, F, Dumont, M, Eccles, DM, Tapper, WJ, Rafiq, S, John, EM, Whittemore, AS, Slager, S, Yannoukakos, D, Toland, AE, Yao, S, Zheng, W, Halverson, SL, Gonzalez-Neira, A, Pita, G, Alonso, MR, Alvarez, N, Herrero, D, Tessier, DC, Vincent, D, Bacot, F, Luccarini, C, Baynes, C, Ahmed, S, Maranian, M, Healey, CS, Simard, J, Hall, P, Easton, DF, Garcia-Closas, M, Mavaddat, N, Pharoah, PDP, Michailidou, K, Tyrer, J, Brook, MN, Bolla, MK, Wang, Q, Dennis, J, Dunning, AM, Shah, M, Luben, R, Brown, J, Bojesen, SE, Nordestgaard, BG, Nielsen, SF, Flyger, H, Czene, K, Darabi, H, Eriksson, M, Peto, J, dos-Santos-Silva, I, Dudbridge, F, Johnson, N, Schmidt, MK, Broeks, A, Verhoef, S, Rutgers, EJ, Swerdlow, A, Ashworth, A, Orr, N, Schoemaker, MJ, Figueroa, J, Chanock, SJ, Brinton, L, Lissowska, J, Couch, FJ, Olson, JE, Vachon, C, Pankratz, VS, Lambrechts, D, Wildiers, H, Van Ongeval, C, Van Limbergen, E, Kristensen, V, Alnaes, GG, Nord, S, Borresen-Dale, A-L, Nevanlinna, H, Muranen, TA, Aittomaeki, K, Blomqvist, C, Chang-Claude, J, Rudolph, A, Seibold, P, Flesch-Janys, D, Fasching, PA, Haeberle, L, Ekici, AB, Beckmann, MW, Burwinkel, B, Marme, F, Schneeweiss, A, Sohn, C, Trentham-Dietz, A, Newcomb, P, Titus, L, Egan, KM, Hunter, DJ, Lindstrom, S, Tamimi, RM, Kraft, P, Rahman, N, Turnbull, C, Renwick, A, Seal, S, Li, J, Liu, J, Humphreys, K, Benitez, J, Zamora, MP, Perez, JIA, Menendez, P, Jakubowska, A, Lubinski, J, Jaworska-Bieniek, K, Durda, K, Bogdanova, NV, Antonenkova, NN, Doerk, T, Anton-Culver, H, Neuhausen, SL, Ziogas, A, Bernstein, L, Devilee, P, Tollenaar, RAEM, Seynaeve, C, van Asperen, CJ, Cox, A, Cross, SS, Reed, MWR, Khusnutdinova, E, Bermisheva, M, Prokofyeva, D, Takhirova, Z, Meindl, A, Schmutzler, RK, Sutter, C, Yang, R, Schuermann, P, Bremer, M, Christiansen, H, Park-Simon, T-W, Hillemanns, P, Guenel, P, Truong, T, Menegaux, F, Sanchez, M, Radice, P, Peterlongo, P, Manoukian, S, Pensotti, V, Hopper, JL, Tsimiklis, H, Apicella, C, Southey, MC, Brauch, H, Bruening, T, Ko, Y-D, Sigurdson, AJ, Doody, MM, Hamann, U, Torres, D, Ulmer, H-U, Foersti, A, Sawyer, EJ, Tomlinson, I, Kerin, MJ, Miller, N, Andrulis, IL, Knight, JA, Glendon, G, Mulligan, AM, Chenevix-Trench, G, Balleine, R, Giles, GG, Milne, RL, McLean, C, Lindblom, A, Margolin, S, Haiman, CA, Henderson, BE, Schumacher, F, Le Marchand, L, Eilber, U, Wang-Gohrke, S, Hooning, MJ, Hollestelle, A, van den Ouweland, AMW, Koppert, LB, Carpenter, J, Clarke, C, Scott, R, Mannermaa, A, Kataja, V, Kosma, V-M, Hartikainen, JM, Brenner, H, Arndt, V, Stegmaier, C, Dieffenbach, AK, Winqvist, R, Pylkaes, K, Jukkola-Vuorinen, A, Grip, M, Offit, K, Vijai, J, Robson, M, Rau-Murthy, R, Dwek, M, Swann, R, Perkins, KA, Goldberg, MS, Labreche, F, Dumont, M, Eccles, DM, Tapper, WJ, Rafiq, S, John, EM, Whittemore, AS, Slager, S, Yannoukakos, D, Toland, AE, Yao, S, Zheng, W, Halverson, SL, Gonzalez-Neira, A, Pita, G, Alonso, MR, Alvarez, N, Herrero, D, Tessier, DC, Vincent, D, Bacot, F, Luccarini, C, Baynes, C, Ahmed, S, Maranian, M, Healey, CS, Simard, J, Hall, P, Easton, DF, and Garcia-Closas, M

Abstract

BACKGROUND: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at different levels of breast cancer risk. Such stratification could guide preventive and screening strategies. However, empirical evidence for genetic risk stratification is lacking. METHODS: We investigated the value of using 77 breast cancer-associated single nucleotide polymorphisms (SNPs) for risk stratification, in a study of 33 673 breast cancer cases and 33 381 control women of European origin. We tested all possible pair-wise multiplicative interactions and constructed a 77-SNP polygenic risk score (PRS) for breast cancer overall and by estrogen receptor (ER) status. Absolute risks of breast cancer by PRS were derived from relative risk estimates and UK incidence and mortality rates. RESULTS: There was no strong evidence for departure from a multiplicative model for any SNP pair. Women in the highest 1% of the PRS had a three-fold increased risk of developing breast cancer compared with women in the middle quintile (odds ratio [OR] = 3.36, 95% confidence interval [CI] = 2.95 to 3.83). The ORs for ER-positive and ER-negative disease were 3.73 (95% CI = 3.24 to 4.30) and 2.80 (95% CI = 2.26 to 3.46), respectively. Lifetime risk of breast cancer for women in the lowest and highest quintiles of the PRS were 5.2% and 16.6% for a woman without family history, and 8.6% and 24.4% for a woman with a first-degree family history of breast cancer. CONCLUSIONS: The PRS stratifies breast cancer risk in women both with and without a family history of breast cancer. The observed level of risk discrimination could inform targeted screening and prevention strategies. Further discrimination may be achievable through combining the PRS with lifestyle/environmental factors, although these were not considered in this report.

Published
2015

49. Elevated interferon‐stimulated gene transcription in peripheral blood mononuclear cells occurs in patients infected with genotype 1 but not genotype 3 hepatitis C virus.

Author

Robinson, Mark W., Swann, R, Sigruener, A., Barclay, S. T., Mills, P. R., McLauchlan, J., Patel, A. H., Robinson, Mark W., Swann, R, Sigruener, A., Barclay, S. T., Mills, P. R., McLauchlan, J., and Patel, A. H.

Abstract

Hepatitis C virus (HCV) can be classified into seven distinct genotypes that are associated with differing pathologies and respond differently to antiviral therapy. In the UK, genotype 1 and 3 are present in approximately equal proportions. Chronic infection with HCV genotype 3 is associated with increased liver steatosis and reduced peripheral total cholesterol levels, which potentially influences peripheral immune responses. To understand these differences, we investigated host gene transcription in peripheral blood mononuclear cells by microarray and quantitative PCR in patients with genotype 1 (n = 22) or genotype 3 infection (n = 22) and matched healthy controls (n = 15). Enrichment of genes involved in immune response and inflammatory pathways were present in patients infected with HCV genotype 1; however, no differences in genes involved in lipid or cholesterol metabolism were detected. This genotype‐specific induction of genes is unrelated to IL28B genotype or previous treatment failure. Our data support the hypothesis that genotype 1 infection drives a skewed Type I interferon response and provides a foundation for future investigations into the host–pathogen interactions that underlie the genotype‐specific clinical outcomes of chronic HCV infection.

Published
2015

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