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324 results on '"Win, A. K."'

1. A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome

Author

Walker, Romy, Mahmood, Khalid, Joo, Jihoon E., Clendenning, Mark, Georgeson, Peter, Como, Julia, Joseland, Sharelle, Preston, Susan G., Antill, Yoland, Austin, Rachel, Boussioutas, Alex, Bowman, Michelle, Burke, Jo, Campbell, Ainsley, Daneshvar, Simin, Edwards, Emma, Gleeson, Margaret, Goodwin, Annabel, Harris, Marion T., Henderson, Alex, Higgins, Megan, Hopper, John L., Hutchinson, Ryan A., Ip, Emilia, Isbister, Joanne, Kasem, Kais, Marfan, Helen, Milnes, Di, Ng, Annabelle, Nichols, Cassandra, O’Connell, Shona, Pachter, Nicholas, Pope, Bernard J., Poplawski, Nicola, Ragunathan, Abiramy, Smyth, Courtney, Spigelman, Allan, Storey, Kirsty, Susman, Rachel, Taylor, Jessica A., Warwick, Linda, Wilding, Mathilda, Williams, Rachel, Win, Aung K., Walsh, Michael D., Macrae, Finlay A., Jenkins, Mark A., Rosty, Christophe, Winship, Ingrid M., and Buchanan, Daniel D.

Published
2023
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2. Body Mass Index, sex, non-steroidal anti-inflammatory drug medications, smoking and alcohol are differentially associated with World Health Organisation criteria and colorectal cancer risk in people with Serrated Polyposis Syndrome: an Australian case-control study

Author

Anthony, Emma, Reece, Jeanette C., Milanzi, Elasma, Joo, Jihoon E., Joseland, Sharelle, Clendenning, Mark, Whelan, Amanda, Parry, Susan, Arnold, Julie, Vijay, Varnika, Atkinson, Nathan, Hopper, John L., Win, Aung K., Jenkins, Mark A., Macrae, Finlay A., Winship, Ingrid M., Rosty, Christophe, and Buchanan, Daniel D.

Published
2022
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3. Evaluating Multiple Next-Generation Sequencing–Derived Tumor Features to Accurately Predict DNA Mismatch Repair Status

Author

Walker, Romy, Georgeson, Peter, Mahmood, Khalid, Joo, Jihoon E., Makalic, Enes, Clendenning, Mark, Como, Julia, Preston, Susan, Joseland, Sharelle, Pope, Bernard J., Hutchinson, Ryan A., Kasem, Kais, Walsh, Michael D., Macrae, Finlay A., Win, Aung K., Hopper, John L., Mouradov, Dmitri, Gibbs, Peter, Sieber, Oliver M., O'Sullivan, Dylan E., Brenner, Darren R., Gallinger, Steven, Jenkins, Mark A., Rosty, Christophe, Winship, Ingrid M., and Buchanan, Daniel D.

Published
2022
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4. Mendelian randomisation study of age at menarche and age at menopause and the risk of colorectal cancer

Author

Neumeyer, Sonja, Banbury, Barbara L, Arndt, Volker, Berndt, Sonja I, Bezieau, Stephane, Bien, Stephanie A, Buchanan, Dan D, Butterbach, Katja, Caan, Bette J, Campbell, Peter T, Casey, Graham, Chan, Andrew T, Chanock, Stephen J, Dai, James Y, Gallinger, Steven, Giovannucci, Edward L, Giles, Graham G, Grady, William M, Hampe, Jochen, Hoffmeister, Michael, Hopper, John L, Hsu, Li, Jenkins, Mark A, Joshi, Amit, Larsson, Susanna C, Le Marchand, Loic, Lindblom, Annika, Moreno, Victor, Lemire, Mathieu, Li, Li, Lin, Yi, Offit, Kenneth, Newcomb, Polly A, Pharaoh, Paul D, Potter, John D, Qi, Lihong, Rennert, Gad, Schafmayer, Clemens, Schoen, Robert E, Slattery, Martha L, Song, Mingyang, Ulrich, Cornelia M, Win, Aung K, White, Emily, Wolk, Alicja, Woods, Michael O, Wu, Anna H, Gruber, Stephen B, Brenner, Hermann, Peters, Ulrike, and Chang-Claude, Jenny

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Estrogen, Genetics, Contraception/Reproduction, Prevention, Clinical Research, Colo-Rectal Cancer, Digestive Diseases, Cancer, Aging, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Age Factors, Case-Control Studies, Colorectal Neoplasms, Female, Genetic Predisposition to Disease, Humans, Logistic Models, Menarche, Mendelian Randomization Analysis, Menopause, Polymorphism, Single Nucleotide, Registries, Public Health and Health Services, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundSubstantial evidence supports an association between use of menopausal hormone therapy and decreased colorectal cancer (CRC) risk, indicating a role of exogenous sex hormones in CRC development. However, findings on endogenous oestrogen exposure and CRC are inconsistent.MethodsWe used a Mendelian randomisation approach to test for a causal effect of age at menarche and age at menopause as surrogates for endogenous oestrogen exposure on CRC risk. Weighted genetic risk scores based on 358 single-nucleotide polymorphisms associated with age at menarche and 51 single-nucleotide polymorphisms associated with age at menopause were used to estimate the association with CRC risk using logistic regression in 12,944 women diagnosed with CRC and 10,741 women without CRC from three consortia. Sensitivity analyses were conducted to address pleiotropy and possible confounding by body mass index.ResultsGenetic risk scores for age at menarche (odds ratio per year 0.98, 95% confidence interval: 0.95-1.02) and age at menopause (odds ratio 0.98, 95% confidence interval: 0.94-1.01) were not significantly associated with CRC risk. The sensitivity analyses yielded similar results.ConclusionsOur study does not support a causal relationship between genetic risk scores for age at menarche and age at menopause and CRC risk.

Published
2018

5. Astrocytic TIMP-1 regulates production of Anastellin, an inhibitor of oligodendrocyte differentiation and FTY720 responses

Author

Sutter, Pearl A., primary, Willis, Cory M., additional, Menoret, Antoine, additional, Nicaise, Alexandra M., additional, Sacino, Anthony, additional, Sikkema, Arend. H., additional, Jellison, Evan R., additional, Win, Kyaw K., additional, Han, David K., additional, Church, William, additional, Baron, Wia, additional, Vella, Anthony T., additional, and Crocker, Stephen J., additional

Published
2024
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8. Ability of known susceptibility SNPs to predict colorectal cancer risk for persons with and without a family history

Author

Jenkins, Mark A., Win, Aung K., Dowty, James G., MacInnis, Robert J., Makalic, Enes, Schmidt, Daniel F., Dite, Gillian S., Kapuscinski, Mirosl, Clendenning, Mark, Rosty, Christophe, Winship, Ingrid M., Emery, Jon D., Saya, Sibel, Macrae, Finlay A., Ahnen, Dennis J., Duggan, David, Figueiredo, Jane C., Lindor, Noralane M., Haile, Robert W., Potter, John D., Cotterchio, Michelle, Gallinger, Steven, Newcomb, Polly A., Buchanan, Daniel D., Casey, Graham, and Hopper, John L.

Published
2019
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13. Figure S3 from Using DEPendency of Association on the Number of Top Hits (DEPTH) as a Complementary Tool to Identify Novel Colorectal Cancer Susceptibility Loci

Author

Lai, John, primary, Wong, Chi Kuen, primary, Schmidt, Daniel F., primary, Kapuscinski, Miroslaw K., primary, Alpen, Karen, primary, MacInnis, Robert J., primary, Buchanan, Daniel D., primary, Win, Aung K., primary, Figueiredo, Jane C., primary, Chan, Andrew T., primary, Harrison, Tabitha A., primary, Hoffmeister, Michael, primary, White, Emily, primary, Le Marchand, Loic, primary, Pai, Rish K., primary, Peters, Ulrike, primary, Hopper, John L., primary, Jenkins, Mark A., primary, and Makalic, Enes, primary

Published
2023
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14. Table S8 from Using DEPendency of Association on the Number of Top Hits (DEPTH) as a Complementary Tool to Identify Novel Colorectal Cancer Susceptibility Loci

Author

Lai, John, primary, Wong, Chi Kuen, primary, Schmidt, Daniel F., primary, Kapuscinski, Miroslaw K., primary, Alpen, Karen, primary, MacInnis, Robert J., primary, Buchanan, Daniel D., primary, Win, Aung K., primary, Figueiredo, Jane C., primary, Chan, Andrew T., primary, Harrison, Tabitha A., primary, Hoffmeister, Michael, primary, White, Emily, primary, Le Marchand, Loic, primary, Pai, Rish K., primary, Peters, Ulrike, primary, Hopper, John L., primary, Jenkins, Mark A., primary, and Makalic, Enes, primary

Published
2023
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15. Data from Using DEPendency of Association on the Number of Top Hits (DEPTH) as a Complementary Tool to Identify Novel Colorectal Cancer Susceptibility Loci

Author

Lai, John, primary, Wong, Chi Kuen, primary, Schmidt, Daniel F., primary, Kapuscinski, Miroslaw K., primary, Alpen, Karen, primary, MacInnis, Robert J., primary, Buchanan, Daniel D., primary, Win, Aung K., primary, Figueiredo, Jane C., primary, Chan, Andrew T., primary, Harrison, Tabitha A., primary, Hoffmeister, Michael, primary, White, Emily, primary, Le Marchand, Loic, primary, Pai, Rish K., primary, Peters, Ulrike, primary, Hopper, John L., primary, Jenkins, Mark A., primary, and Makalic, Enes, primary

Published
2023
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16. Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis

Author

May-Wilson, Sebastian, Sud, Amit, Law, Philip J., Palin, Kimmo, Tuupanen, Sari, Gylfe, Alexandra, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A., Palles, Claire, Farrington, Susan M., Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Timothy S., Fisher, David, Kerr, Rachel, Kerr, David, Passarelli, Michael N., Figueiredo, Jane C., Buchanan, Daniel D., Win, Aung K., Hopper, John L., Jenkins, Mark A., Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steven, Conti, David, Schumacher, Fred, Casey, Graham, Aaltonen, Lauri A., Cheadle, Jeremy P., Tomlinson, Ian P., Dunlop, Malcolm G., and Houlston, Richard S.

Published
2017
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19. Using DEPendency of Association on the Number of Top Hits (DEPTH) as a Complementary Tool to Identify Novel Colorectal Cancer Susceptibility Loci

Author

Lai, John, primary, Wong, Chi Kuen, additional, Schmidt, Daniel F., additional, Kapuscinski, Miroslaw K., additional, Alpen, Karen, additional, MacInnis, Robert J., additional, Buchanan, Daniel D., additional, Win, Aung K., additional, Figueiredo, Jane C., additional, Chan, Andrew T., additional, Harrison, Tabitha A., additional, Hoffmeister, Michael, additional, White, Emily, additional, Le Marchand, Loic, additional, Pai, Rish K., additional, Peters, Ulrike, additional, Hopper, John L., additional, Jenkins, Mark A., additional, and Makalic, Enes, additional

Published
2023
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25. Astrocytic TIMP-1 regulates production of Anastellin, a novel inhibitor of oligodendrocyte differentiation and FTY720 responses

Author

Sutter, Pearl A., primary, Willis, Cory M., additional, Menoret, Antoine, additional, Nicaise, Alexandra M., additional, Sacino, Anthony, additional, Sikkema, Arend. H., additional, Jellison, Evan, additional, Win, Kyaw K., additional, Han, David K., additional, Church, William, additional, Baron, Wia, additional, Vella, Anthony T., additional, and Crocker, Stephen J., additional

Published
2023
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26. Evaluating Multiple Next-Generation Sequencing–Derived Tumor Features to Accurately Predict DNA Mismatch Repair Status

Author

Walker, Romy, primary, Georgeson, Peter, additional, Mahmood, Khalid, additional, Joo, Jihoon E., additional, Makalic, Enes, additional, Clendenning, Mark, additional, Como, Julia, additional, Preston, Susan, additional, Joseland, Sharelle, additional, Pope, Bernard J., additional, Hutchinson, Ryan A., additional, Kasem, Kais, additional, Walsh, Michael D., additional, Macrae, Finlay A., additional, Win, Aung K., additional, Hopper, John L., additional, Mouradov, Dmitri, additional, Gibbs, Peter, additional, Sieber, Oliver M., additional, O'Sullivan, Dylan E., additional, Brenner, Darren R., additional, Gallinger, Steven, additional, Jenkins, Mark A., additional, Rosty, Christophe, additional, Winship, Ingrid M., additional, and Buchanan, Daniel D., additional

Published
2023
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29. Additional file 1 of A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome

Author

Walker, Romy, Mahmood, Khalid, Joo, Jihoon E., Clendenning, Mark, Georgeson, Peter, Como, Julia, Joseland, Sharelle, Preston, Susan G., Antill, Yoland, Austin, Rachel, Boussioutas, Alex, Bowman, Michelle, Burke, Jo, Campbell, Ainsley, Daneshvar, Simin, Edwards, Emma, Gleeson, Margaret, Goodwin, Annabel, Harris, Marion T., Henderson, Alex, Higgins, Megan, Hopper, John L., Hutchinson, Ryan A., Ip, Emilia, Isbister, Joanne, Kasem, Kais, Marfan, Helen, Milnes, Di, Ng, Annabelle, Nichols, Cassandra, O’Connell, Shona, Pachter, Nicholas, Pope, Bernard J., Poplawski, Nicola, Ragunathan, Abiramy, Smyth, Courtney, Spigelman, Allan, Storey, Kirsty, Susman, Rachel, Taylor, Jessica A., Warwick, Linda, Wilding, Mathilda, Williams, Rachel, Win, Aung K., Walsh, Michael D., Macrae, Finlay A., Jenkins, Mark A., Rosty, Christophe, Winship, Ingrid M., and Buchanan, Daniel D.

Abstract

Additional file 1: Table S1. Table displaying optimal cut-offs for the six tumor features determined previously (Walker et al. 2023) in the additive feature combination approach. Table S2. SLS tumors (n=13) that showed discordant MMR IHC findings between clinical diagnostic testing before study entry and testing completed internally during this study and the change in their MMR status and/or pattern of MMR protein loss. Table S3. The concordance between the final MMR IHC result and the predicted dMMR status from the additive feature combination approach overall and by tumor type. Table S4. The tumor MLH1 methylation testing completed for SLS tumors prior to entering the study showing either negative, inconclusive, or not tested results and the subsequent MLH1 methylation testing results from internal testing using MethyLight and MS-HRM assays highlighting the positive MLH1 methylation results found by this study. Table S5. Presentation of germline pathogenic variants and variants of uncertain clinical significance (VUS) identified in the MMR, MUTYH and POLE genes. Table S6. Summary of the clinicopathological features for the double somatic MMR mutation (dMMR-DS) tumors overall and by tumor type. Figure S1. Bar plots presenting the results from the additive tumor feature combination approach to assess the MMR status in the double somatic mutation cohort for A) all tumors combined and separated by B) CRC, C) EC and D) SST tissue types. Figure S2. Bar plot presenting the prevalence of pathogenic/likely pathogenic somatic mutations (including loss of heterozygosity, LOH) by subtype for the study cohort. Figure S3. Pie graphs displaying the frequency of the mutation combination type (two single somatic mutations versus a single somatic mutation with loss of heterozygosity (LOH)) as well as the type of mutation A) overall and B) separated by tissue type. Figure S4. Bar graphs presenting the site distribution in the double somatic mutation cohort across all CRCs and SSTs. Figure S5. Boxplots presenting the site distribution in the double somatic mutation cohort across all A) CRCs and B) SSTs. Significant (< 0.05) p-values are indicated for pairwise (t-test) and multigroup comparisons (Anova). Figure S6. Scatter plots presenting the PREMM5 score distribution in the test cohort for A) all tumors combined and separated by B) CRC, C) EC and D) SST tissue types. Figure S7. The distribution of tumor values for each of the six features that are included in the additive feature combination approach for determining tumor dMMR status grouped by molecular subtype and by combining sporadic dMMR groups dMMR-DS and dMMR-MLH1me into a “sporadic combined” group.

Published
2023
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30. Using DEPendency of association on the number of Top Hits (DEPTH) as a complementary tool to identify novel risk loci in colorectal cancer

Author

Lai, John, primary, Wong, Chi, additional, Schmidt, Daniel F., additional, Kapuscinski, Miroslaw, additional, Alpen, Karen, additional, MacInnis, Robert J., additional, Buchanan, Daniel D., additional, Win, Aung K., additional, Figueiredo, Jane, additional, Chan, Andrew T., additional, Harrison, Tabitha A., additional, Hoffmeister, Michael, additional, White, Emily, additional, Marchand, Loic Le, additional, Peters, Ulrike, additional, Hopper, John L., additional, Makalic, Enes, additional, and Jenkins, Mark A., additional

Published
2022
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31. Somatic mutations of the coding microsatellites within the beta-2-microglobulin gene in mismatch repair-deficient colorectal cancers and adenomas

Author

Clendenning, Mark, Huang, Alvin, Jayasekara, Harindra, Lorans, Marie, Preston, Susan, O’Callaghan, Neil, Pope, Bernard J., Macrae, Finlay A., Winship, Ingrid M., Milne, Roger L., Giles, Graham G., English, Dallas R., Hopper, John L., Win, Aung K., Jenkins, Mark A., Southey, Melissa C., Rosty, Christophe, Buchanan, Daniel D., and On behalf of investigators from the Melbourne Collaborative Cohort Study and the Australasian Colorectal Cancer Family Registry Cohort

Published
2017
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33. Genome‐wide association study and meta‐analysis in Northern European populations replicate multiple colorectal cancer risk loci

Author

Tanskanen, Tomas, van den Berg, Linda, Välimäki, Niko, Aavikko, Mervi, Ness‐Jensen, Eivind, Hveem, Kristian, Wettergren, Yvonne, Bexe Lindskog, Elinor, Tõnisson, Neeme, Metspalu, Andres, Silander, Kaisa, Orlando, Giulia, Law, Philip J., Tuupanen, Sari, Gylfe, Alexandra E., Hänninen, Ulrika A., Cajuso, Tatiana, Kondelin, Johanna, Sarin, Antti‐Pekka, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Järvinen, Heikki, Renkonen‐Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka‐Pekka, Al‐Tassan, Nada A., Palles, Claire, Martin, Lynn, Barclay, Ella, Tenesa, Albert, Farrington, Susan M., Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Tim S., Kaplan, Richard, Kerr, Rachel, Kerr, David, Buchanan, Daniel D., Win, Aung K., Hopper, John, Jenkins, Mark A., Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fredrick R., Casey, Graham, Cheadle, Jeremy P., Dunlop, Malcolm G., Tomlinson, Ian P., Houlston, Richard S., Palin, Kimmo, and Aaltonen, Lauri A.

Published
2018
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34. Expression of MUC2, MUC5AC, MUC5B, and MUC6 mucins in colorectal cancers and their association with the CpG island methylator phenotype

Author

Walsh, Michael D, Clendenning, Mark, Williamson, Elizabeth, Pearson, Sally-Ann, Walters, Rhiannon J, Nagler, Belinda, Packenas, David, Win, Aung K, Hopper, John L, Jenkins, Mark A, Haydon, Andrew M, Rosty, Christophe, English, Dallas R, Giles, Graham G, McGuckin, Michael A, Young, Joanne P, and Buchanan, Daniel D

Published
2013
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35. Evaluating multiple next-generation sequencing derived tumor features to accurately predict DNA mismatch repair status

Author

Walker, Romy, primary, Georgeson, Peter, additional, Mahmood, Khalid, additional, Joo, Jihoon E., additional, Makalic, Enes, additional, Clendenning, Mark, additional, Como, Julia, additional, Preston, Susan, additional, Joseland, Sharelle, additional, Pope, Bernard J., additional, Hutchinson, Ryan, additional, Kasem, Kais, additional, Walsh, Michael D., additional, Macrae, Finlay A., additional, Win, Aung K., additional, Hopper, John L., additional, Mouradov, Dmitri, additional, Gibbs, Peter, additional, Sieber, Oliver M., additional, O’Sullivan, Dylan E., additional, Brenner, Darren R., additional, Gallinger, Steven, additional, Jenkins, Mark A., additional, Rosty, Christophe, additional, Winship, Ingrid M., additional, and Buchanan, Daniel D., additional

Published
2022
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40. Additional file 1 of Body Mass Index, sex, non-steroidal anti-inflammatory drug medications, smoking and alcohol are differentially associated with World Health Organisation criteria and colorectal cancer risk in people with Serrated Polyposis Syndrome: an Australian case-control study

Author

Anthony, Emma, Reece, Jeanette C., Milanzi, Elasma, Joo, Jihoon E., Joseland, Sharelle, Clendenning, Mark, Whelan, Amanda, Parry, Susan, Arnold, Julie, Vijay, Varnika, Atkinson, Nathan, Hopper, John L., Win, Aung K., Jenkins, Mark A., Macrae, Finlay A., Winship, Ingrid M., Rosty, Christophe, and Buchanan, Daniel D.

Abstract

Additional file 1: Supplementary Table 1. Female Sub-analysis investigating the association between SPS and characteristics/ lifestyle factors. Supplementary Table 2. Female Sub-analysis investigating the association between WHO criteria I and characteristics/ lifestyle factors. Supplementary Table 3. Female Sub-analysis investigating the association between WHO criteria III and characteristics/ lifestyle factors. Supplementary Table 4. Female Sub-analysis investigating the association between both WHO criteria I and III and characteristics/ lifestyle factors. Supplementary Table 5. Female Sub-analysis investigating the association between CRC and characteristics/ lifestyle factors. Supplementary Table 6. Female Sub-analysis investigating the association between SPS patients with no CRC and characteristics/ lifestyle factors

Published
2022
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42. ESBL- and carbapenemase-producing Enterobacteriaceae in patients with bacteremia, Yangon, Myanmar, 2014

Author

Myat, Tin O., Hannaway, Rachel F., Zin, Khwar N., Htike, Wah W., Win, Kyu K., Crump, John A., Murdoch, David R., and Ussher, James E.

Subjects
Bacteria, Hospitals -- Myanmar -- New Zealand, Beta lactamases, Drug resistance in microorganisms -- Care and treatment, Infection -- Care and treatment, Medical colleges, Hospital patients -- Care and treatment, Health
Abstract

Infections with extended-spectrum p-lactamase (ESBL)-producing gram-negative bacteria and carbapenem-resistant Enterobacteriaceae (CRE) have been reported worldwide (1). Little is known about the occurrence of ESBL-producing and CRE bacteria in Yangon, Myanmar. [...]

Published
2017

43. Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database (Genetics in Medicine, (2020), 22, 1, (15-25), 10.1038/s41436-019-0596-9)

Author

Dominguez-Valentin M., Sampson J. R., Seppala T. T., ten Broeke S. W., Plazzer J. -P., Nakken S., Engel C., Aretz S., Jenkins M. A., Sunde L., Bernstein I., Capella G., Balaguer F., Thomas H., Evans D. G., Burn J., Greenblatt M., Hovig E., de Vos tot Nederveen Cappel W. H., Sijmons R. H., Bertario L., Tibiletti M. G., Cavestro G. M., Lindblom A., Della Valle A., Lopez-Kostner F., Gluck N., Katz L. H., Heinimann K., Vaccaro C. A., Buttner R., Gorgens H., Holinski-Feder E., Morak M., Holzapfel S., Huneburg R., Knebel Doeberitz M., Loeffler M., Rahner N., Schackert H. K., Steinke-Lange V., Schmiegel W., Vangala D., Pylvanainen K., Renkonen-Sinisalo L., Hopper J. L., Win A. K., Haile R. W., Lindor N. M., Gallinger S., Le Marchand L., Newcomb P. A., Figueiredo J. C., Thibodeau S. N., Wadt K., Therkildsen C., Okkels H., Ketabi Z., Moreira L., Sanchez A., Serra-Burriel M., Pineda M., Navarro M., Blanco I., Green K., Lalloo F., Crosbie E. J., Hill J., Denton O. G., Frayling I. M., Rodland E. A., Vasen H., Mints M., Neffa F., Esperon P., Alvarez K., Kariv R., Rosner G., Pinero T. A., Gonzalez M. L., Kalfayan P., Tjandra D., Winship I. M., Macrae F., Moslein G., Mecklin J. -P., Nielsen M., Moller P., Dominguez-Valentin, M., Sampson, J. R., Seppala, T. T., ten Broeke, S. W., Plazzer, J. -P., Nakken, S., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., Hovig, E., de Vos tot Nederveen Cappel, W. H., Sijmons, R. H., Bertario, L., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Della Valle, A., Lopez-Kostner, F., Gluck, N., Katz, L. H., Heinimann, K., Vaccaro, C. A., Buttner, R., Gorgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Huneburg, R., Knebel Doeberitz, M., Loeffler, M., Rahner, N., Schackert, H. K., Steinke-Lange, V., Schmiegel, W., Vangala, D., Pylvanainen, K., Renkonen-Sinisalo, L., Hopper, J. L., Win, A. K., Haile, R. W., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Wadt, K., Therkildsen, C., Okkels, H., Ketabi, Z., Moreira, L., Sanchez, A., Serra-Burriel, M., Pineda, M., Navarro, M., Blanco, I., Green, K., Lalloo, F., Crosbie, E. J., Hill, J., Denton, O. G., Frayling, I. M., Rodland, E. A., Vasen, H., Mints, M., Neffa, F., Esperon, P., Alvarez, K., Kariv, R., Rosner, G., Pinero, T. A., Gonzalez, M. L., Kalfayan, P., Tjandra, D., Winship, I. M., Macrae, F., Moslein, G., Mecklin, J. -P., Nielsen, M., and Moller, P.

Abstract

The original version of this Article did not contain details of Dutch Cancer Society (DCS) funding (grant number UL 2017-8223) in the Acknowledgements section. This has now been corrected in both the PDF and HTML versions of the Article.

Published
2020

45. Association analyses identify 31 new risk loci for colorectal cancer susceptibility

Author

Law, PJ, Timofeeva, M, Fernandez-Rozadilla, C, Broderick, P, Studd, J, Fernandez-Tajes, J, Farrington, S, Svinti, V, Palles, C, Orlando, G, Sud, A, Holroyd, A, Penegar, S, Theodoratou, E, Vaughan-Shaw, P, Campbell, H, Zgaga, L, Hayward, C, Campbell, A, Harris, S, Deary, IJ, Starr, J, Gatcombe, L, Pinna, M, Briggs, S, Martin, L, Jaeger, E, Sharma-Oates, A, East, J, Leedham, S, Arnold, R, Johnstone, E, Wang, H, Kerr, D, Kerr, R, Maughan, T, Kaplan, R, Al-Tassan, N, Palin, K, Hänninen, UA, Cajuso, T, Tanskanen, T, Kondelin, J, Kaasinen, E, Sarin, A-P, Eriksson, JG, Rissanen, H, Knekt, P, Pukkala, E, Jousilahti, P, Salomaa, V, Ripatti, S, Palotie, A, Renkonen-Sinisalo, L, Lepistö, A, Böhm, J, Mecklin, J-P, Buchanan, DD, Win, A-K, Hopper, J, Jenkins, ME, Lindor, NM, Newcomb, PA, Gallinger, S, Duggan, D, Casey, G, Hoffmann, P, Nöthen, MM, Jöckel, K-H, Easton, DF, Pharoah, PDP, Peto, J, Canzian, F, Swerdlow, A, Eeles, RA, Kote-Jarai, Z, Muir, K, Pashayan, N, Consortium, Practical, Harkin, A, Allan, K, McQueen, J, Paul, J, Iveson, T, Saunders, M, Butterbach, K, Chang-Claude, J, Hoffmeister, M, Brenner, H, Kirac, I, Matošević, P, Hofer, P, Brezina, S, Gsur, A, Cheadle, JP, Aaltonen, LA, Tomlinson, I, Houlston, RS, Dunlop, MG, Law, Philip J [0000-0001-9663-4611], Timofeeva, Maria [0000-0002-2503-4253], Fernandez-Rozadilla, Ceres [0000-0001-7330-4804], Broderick, Peter [0000-0002-8348-5829], Studd, James [0000-0002-7157-754X], Farrington, Susan [0000-0001-5955-7389], Svinti, Victoria [0000-0001-9926-0416], Sud, Amit [0000-0002-6133-0164], Hayward, Caroline [0000-0002-9405-9550], Campbell, Archie [0000-0003-0198-5078], Martin, Lynn [0000-0003-3962-389X], East, James [0000-0001-8035-3700], Kaplan, Richard [0000-0002-0189-8348], Al-Tassan, Nada [0000-0001-9076-0334], Palin, Kimmo [0000-0002-4621-6128], Salomaa, Veikko [0000-0001-7563-5324], Buchanan, Daniel D [0000-0003-2225-6675], Win, Aung-Ko [0000-0002-2794-5261], Jenkins, Mark E [0000-0002-8964-6160], Easton, Douglas F [0000-0003-2444-3247], Pharoah, Paul DP [0000-0001-8494-732X], Eeles, Rosalind A [0000-0002-3698-6241], Muir, Kenneth [0000-0001-6429-988X], Pashayan, Nora [0000-0003-0843-2468], Harkin, Andrea [0000-0002-8831-7381], Paul, James [0000-0001-7367-5816], Hofer, Philipp [0000-0003-2550-6019], Brezina, Stefanie [0000-0001-5238-6900], Cheadle, Jeremy P [0000-0001-9453-8458], Tomlinson, Ian [0000-0003-3037-1470], Houlston, Richard S [0000-0002-5268-0242], and Apollo - University of Cambridge Repository

Subjects
Male, Science, Inheritance Patterns, cancer genetics, Datasets as Topic, colorectal cancer, Genome-wide association studies, Polymorphism, Single Nucleotide, Article, White People, Asian People, Risk Factors, Cancer genomics, Humans, Genetic Predisposition to Disease, lcsh:Science, Cancer genetics, neoplasms, cancer genomics, genomiikka, Middle Aged, Colorectal cancer, digestive system diseases, peräsuolisyöpä, syöpägeenit, Genetic Loci, Case-Control Studies, genome-wide association studies, lcsh:Q, syöpätaudit, Female, Colorectal Neoplasms, Genome-Wide Association Study
Abstract

Colorectal cancer (CRC) is a leading cause of cancer-related death worldwide, and has a strong heritable basis. We report a genome-wide association analysis of 34,627 CRC cases and 71,379 controls of European ancestry that identifies SNPs at 31 new CRC risk loci. We also identify eight independent risk SNPs at the new and previously reported European CRC loci, and a further nine CRC SNPs at loci previously only identified in Asian populations. We use in situ promoter capture Hi-C (CHi-C), gene expression, and in silico annotation methods to identify likely target genes of CRC SNPs. Whilst these new SNP associations implicate target genes that are enriched for known CRC pathways such as Wnt and BMP, they also highlight novel pathways with no prior links to colorectal tumourigenesis. These findings provide further insight into CRC susceptibility and enhance the prospects of applying genetic risk scores to personalised screening and prevention., In colorectal cancer (CRC), finding loci associated with risk may give insight into disease aetiology. Here, the authors report a genome-wide association analysis in Europeans of 34,627 CRC cases and 71,379 controls, and find 31 new risk loci and 17 new risk SNPs at previously reported loci.

Published
2019

48. A Rare Case of Endometriosis of the Small Bowel

Author

Zepeda, Moisés R. and Win, Su K.

Subjects
Article Subject
Abstract

Endometriosis of the small bowel is a rare clinical event. The clinical condition presents with vague abdominal symptoms and is usually not diagnosed acutely, unless clinicians have a high index of suspicion. Most patients are diagnosed after multiple clinical encounters. We present a case of endometriosis causing small bowel obstruction diagnosed postsurgically.

Published
2021
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50. Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

Author

Seppälä, Toni T., primary, Dominguez-Valentin, Mev, additional, Crosbie, Emma J., additional, Engel, Christoph, additional, Aretz, Stefan, additional, Macrae, Finlay, additional, Winship, Ingrid, additional, Capella, Gabriel, additional, Thomas, Huw, additional, Hovig, Eivind, additional, Nielsen, Maartje, additional, Sijmons, Rolf H., additional, Bertario, Lucio, additional, Bonanni, Bernardo, additional, Tibiletti, Maria G., additional, Cavestro, Giulia M., additional, Mints, Miriam, additional, Gluck, Nathan, additional, Katz, Lior, additional, Heinimann, Karl, additional, Vaccaro, Carlos A., additional, Green, Kate, additional, Lalloo, Fiona, additional, Hill, James, additional, Schmiegel, Wolff, additional, Vangala, Deepak, additional, Perne, Claudia, additional, Strauß, Hans-Georg, additional, Tecklenburg, Johanna, additional, Holinski-Feder, Elke, additional, Steinke-Lange, Verena, additional, Mecklin, Jukka-Pekka, additional, Plazzer, John-Paul, additional, Pineda, Marta, additional, Navarro, Matilde, additional, Vida, Joan B., additional, Kariv, Revital, additional, Rosner, Guy, additional, Piñero, Tamara A., additional, Pavicic, Walter, additional, Kalfayan, Pablo, additional, ten Broeke, Sanne W., additional, Jenkins, Mark A., additional, Sunde, Lone, additional, Bernstein, Inge, additional, Burn, John, additional, Greenblatt, Marc, additional, de Vos tot Nederveen Cappel, Wouter H., additional, Della Valle, Adriana, additional, Lopez-Koestner, Francisco, additional, Alvarez, Karin, additional, Büttner, Reinhard, additional, Görgens, Heike, additional, Morak, Monika, additional, Holzapfel, Stefanie, additional, Hüneburg, Robert, additional, von Knebel Doeberitz, Magnus, additional, Loeffler, Markus, additional, Redler, Silke, additional, Weitz, Jürgen, additional, Pylvänäinen, Kirsi, additional, Renkonen-Sinisalo, Laura, additional, Lepistö, Anna, additional, Hopper, John L., additional, Win, Aung K., additional, Lindor, Noralane M., additional, Gallinger, Steven, additional, Le Marchand, Loïc, additional, Newcomb, Polly A., additional, Figueiredo, Jane C., additional, Thibodeau, Stephen N., additional, Therkildsen, Christina, additional, Wadt, Karin A.W., additional, Mourits, Marian J.E., additional, Ketabi, Zohreh, additional, Denton, Oliver G., additional, Rødland, Einar A., additional, Vasen, Hans, additional, Neffa, Florencia, additional, Esperon, Patricia, additional, Tjandra, Douglas, additional, Möslein, Gabriela, additional, Rokkones, Erik, additional, Sampson, Julian R., additional, Evans, D.G., additional, and Møller, Pål, additional

Published
2021
Full Text
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