Body size and risk of colorectal cancer molecular defined subtypes and pathways: Mendelian randomization analysesResearch in context

Autor: Nikos Papadimitriou, Conghui Qu, Tabitha A. Harrison, Alaina M. Bever, Richard M. Martin, Konstantinos K. Tsilidis, Polly A. Newcomb, Stephen N. Thibodeau, Christina C. Newton, Caroline Y. Um, Mireia Obón-Santacana, Victor Moreno, Hermann Brenner, Marko Mandic, Jenny Chang-Claude, Michael Hoffmeister, Andrew J. Pellatt, Robert E. Schoen, Sophia Harlid, Shuji Ogino, Tomotaka Ugai, Daniel D. Buchanan, Brigid M. Lynch, Stephen B. Gruber, Yin Cao, Li Hsu, Jeroen R. Huyghe, Yi Lin, Robert S. Steinfelder, Wei Sun, Bethany Van Guelpen, Syed H. Zaidi, Amanda E. Toland, Sonja I. Berndt, Wen-Yi Huang, Elom K. Aglago, David A. Drew, Amy J. French, Peter Georgeson, Marios Giannakis, Meredith Hullar, Johnathan A. Nowak, Claire E. Thomas, Loic Le Marchand, Iona Cheng, Steven Gallinger, Mark A. Jenkins, Marc J. Gunter, Peter T. Campbell, Ulrike Peters, Mingyang Song, Amanda I. Phipps, Neil Murphy

Publikováno v: EBioMedicine, Vol 101, Iss , Pp 105010- (2024)

Summary: Background: Obesity has been positively associated with most molecular subtypes of colorectal cancer (CRC); however, the magnitude and the causality of these associations is uncertain. Methods: We used Mendelian randomization (MR) to examine

Externí odkaz: https://doaj.org/article/8a3379fc34b648e7a0fa5d9ca98ea9f7

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

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

Publikováno v: Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-15 (2023)

Abstract Routine screening of tumors for DNA mismatch repair (MMR) deficiency (dMMR) in colorectal (CRC), endometrial (EC) and sebaceous skin (SST) tumors leads to a significant proportion of unresolved cases classified as suspected Lynch syndrome (S

Externí odkaz: https://doaj.org/article/0b22829c0e7441adb30b2047fa688507

Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival

Autor: Syed H. Zaidi, Tabitha A. Harrison, Amanda I. Phipps, Robert Steinfelder, Quang M. Trinh, Conghui Qu, Barbara L. Banbury, Peter Georgeson, Catherine S. Grasso, Marios Giannakis, Jeremy B. Adams, Elizabeth Alwers, Efrat L. Amitay, Richard T. Barfield, Sonja I. Berndt, Ivan Borozan, Hermann Brenner, Stefanie Brezina, Daniel D. Buchanan, Yin Cao, Andrew T. Chan, Jenny Chang-Claude, Charles M. Connolly, David A. Drew, Alton Brad Farris, Jane C. Figueiredo, Amy J. French, Charles S. Fuchs, Levi A. Garraway, Steve Gruber, Mark A. Guinter, Stanley R. Hamilton, Sophia Harlid, Lawrence E. Heisler, Akihisa Hidaka, John L. Hopper, Wen-Yi Huang, Jeroen R. Huyghe, Mark A. Jenkins, Paul M. Krzyzanowski, Mathieu Lemire, Yi Lin, Xuemei Luo, Elaine R. Mardis, John D. McPherson, Jessica K. Miller, Victor Moreno, Xinmeng Jasmine Mu, Reiko Nishihara, Nickolas Papadopoulos, Danielle Pasternack, Michael J. Quist, Adilya Rafikova, Emma E. G. Reid, Eve Shinbrot, Brian H. Shirts, Lincoln D. Stein, Cherie D. Teney, Lee Timms, Caroline Y. Um, Bethany Van Guelpen, Megan Van Tassel, Xiaolong Wang, David A. Wheeler, Christina K. Yung, Li Hsu, Shuji Ogino, Andrea Gsur, Polly A. Newcomb, Steven Gallinger, Michael Hoffmeister, Peter T. Campbell, Stephen N. Thibodeau, Wei Sun, Thomas J. Hudson, Ulrike Peters

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)

Large scale sequencing study is of paramount importance to unravel the heterogeneity of colorectal cancer. Here, the authors sequenced 205 cancer genes in more than 2000 tumours and identified additional mutated driver genes, determined that mutation

Externí odkaz: https://doaj.org/article/a09dab8e99d844a6a6258b23214b612c

Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome

Autor: Peter Georgeson, Michael D. Walsh, Mark Clendenning, Simin Daneshvar, Bernard J. Pope, Khalid Mahmood, Jihoon E. Joo, Harindra Jayasekara, Mark A. Jenkins, Ingrid M. Winship, Daniel D. Buchanan

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)

Abstract Background Muir‐Torre syndrome is defined by the development of sebaceous skin lesions in individuals who carry a germline mismatch repair (MMR) gene mutation. Loss of expression of MMR proteins is frequently observed in sebaceous skin les

Externí odkaz: https://doaj.org/article/21447cd03be341e7bddac45d710344a8

sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data

Autor: Chol-Hee Jung, Daniel J. Park, Peter Georgeson, Khalid Mahmood, Roger L. Milne, Melissa C. Southey, Bernard J. Pope

Publikováno v: International Journal of Molecular Sciences, Vol 19, Iss 10, p 3172 (2018)

DNA methylation influences predisposition, development and prognosis for many diseases, including cancer. However, it is not uncommon to encounter samples with incorrect sex labelling or atypical sex chromosome arrangement. Sex is one of the stronges

Externí odkaz: https://doaj.org/article/2db58ecc05b346e79270067d73e221f0