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pro vyhledávání: '"Marfan, Helen"'
Autor:
Joo, Jihoon E., Mahmood, Khalid, Walker, Romy, Georgeson, Peter, Candiloro, Ida, Clendenning, Mark, Como, Julia, Joseland, Sharelle, Preston, Susan, Graversen, Lise, Wilding, Mathilda, Field, Michael, Lemon, Michelle, Wakeling, Janette, Marfan, Helen, Susman, Rachel, Isbister, Joanne, Edwards, Emma, Bowman, Michelle, Kirk, Judy, Ip, Emilia, McKay, Lynne, Antill, Yoland, Hopper, John L., Boussioutas, Alex, Macrae, Finlay A., Dobrovic, Alexander, Jenkins, Mark A., Rosty, Christophe, Winship, Ingrid M., Buchanan, Daniel D.
Publikováno v:
Joo, J E, Mahmood, K, Walker, R, Georgeson, P, Candiloro, I, Clendenning, M, Como, J, Joseland, S, Preston, S, Graversen, L, Wilding, M, Field, M, Lemon, M, Wakeling, J, Marfan, H, Susman, R, Isbister, J, Edwards, E, Bowman, M, Kirk, J, Ip, E, McKay, L, Antill, Y, Hopper, J L, Boussioutas, A, Macrae, F A, Dobrovic, A, Jenkins, M A, Rosty, C, Winship, I M & Buchanan, D D 2023, ' Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers ', Clinical Epigenetics, vol. 15, no. 1, 95 . https://doi.org/10.1186/s13148-023-01511-y
Background: MLH1 epimutation is characterised by constitutional monoallelic MLH1 promoter hypermethylation, which can cause colorectal cancer (CRC). Tumour molecular profiles of MLH1 epimutation CRCs were used to classify germline MLH1 promoter varia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pure_au_____::c522642348dbb2ed258d29f7f2730302
https://pure.au.dk/portal/da/publications/identifying-primary-and-secondary-mlh1-epimutation-carriers-displaying-lowlevel-constitutional-mlh1-methylation-using-droplet-digital-pcr-and-genomewide-dna-methylation-profiling-of-colorectal-cancers(0e1699e2-1d54-4a81-bdaf-067abd46398b).html
https://pure.au.dk/portal/da/publications/identifying-primary-and-secondary-mlh1-epimutation-carriers-displaying-lowlevel-constitutional-mlh1-methylation-using-droplet-digital-pcr-and-genomewide-dna-methylation-profiling-of-colorectal-cancers(0e1699e2-1d54-4a81-bdaf-067abd46398b).html
Akademický článek
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Autor:
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., Buchanan, Daniel D.
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 bet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62ec7c272063c2443a500340a9a4e2e4
Akademický článek
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Akademický článek
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Autor:
Benn, Diana E, Zhu, Ying, Andrews, Katrina A, Wilding, Mathilda, Duncan, Emma L, Dwight, Trisha, Tothill, Richard W, Burgess, John, Crook, Ashley, Gill, Anthony J, Hicks, Rodney J, Kim, Edward, Luxford, Catherine, Marfan, Helen, Richardson, Anne Louise, Robinson, Bruce, Schlosberg, Arran, Susman, Rachel, Tacon, Lyndal, Trainer, Alison, Tucker, Katherine, Maher, Eamonn R, Field, Michael, Clifton-Bligh, Roderick J
BACKGROUND: Until recently, determining penetrance required large observational cohort studies. Data from the Exome Aggregate Consortium (ExAC) allows a Bayesian approach to calculate penetrance, in that population frequencies of pathogenic germline
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b759c531e975e6c1dbb5bdc6ca00c63d
Autor:
Joo JE; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia. ji.joo@unimelb.edu.au.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia. ji.joo@unimelb.edu.au., Mahmood K; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia.; Melbourne Bioinformatics, The University of Melbourne, Melbourne, VIC, Australia., Walker R; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia., Georgeson P; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia., Candiloro I; Beacon Biomarkers Lab, Department of Surgery, Austin Health, University of Melbourne, Heidelberg, VIC, Australia., Clendenning M; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia., Como J; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia., Joseland S; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia., Preston S; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia., Graversen L; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Wilding M; Department of Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia., Field M; Department of Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia., Lemon M; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Wakeling J; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.; Tasman Health Care, Southport, QLD, Australia., Marfan H; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Susman R; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Isbister J; Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Melbourne, VIC, Australia., Edwards E; Familial Cancer Service, Crown Princess Mary Cancer Centre, Westmead Hospital, Sydney, NSW, 2145, Australia., Bowman M; Familial Cancer Service, Crown Princess Mary Cancer Centre, Westmead Hospital, Sydney, NSW, 2145, Australia., Kirk J; Familial Cancer Service, Crown Princess Mary Cancer Centre, Westmead Hospital, Sydney, NSW, 2145, Australia., Ip E; Department of Cancer Genetics, Liverpool Hospital, Liverpool, NSW, Australia., McKay L; The Cabrini Family Cancer Clinic, Cabrini Health, Malvern, VIC, Australia., Antill Y; Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Melbourne, VIC, Australia.; The Cabrini Family Cancer Clinic, Cabrini Health, Malvern, VIC, Australia., Hopper JL; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Carlton, VIC, Australia., Boussioutas A; Department of Gastroenterology, The Alfred Hospital, Melbourne, Parkville, VIC, 3010, Australia.; Central Clinical School, Monash University, Melbourne, VIC, 3004, Australia., Macrae FA; Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Melbourne, VIC, Australia.; Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Parkville, VIC, Australia.; Department of Medicine, The University of Melbourne, Parkville, Australia., Dobrovic A; Beacon Biomarkers Lab, Department of Surgery, Austin Health, University of Melbourne, Heidelberg, VIC, Australia., Jenkins MA; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Carlton, VIC, Australia., Rosty C; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia.; Envoi Specialist Pathologists, Brisbane, Australia.; University of Queensland, Brisbane, Australia., Winship IM; Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Melbourne, VIC, Australia.; Department of Medicine, The University of Melbourne, Parkville, Australia., Buchanan DD; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3000, Australia.; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Parkville, VIC, Australia.; Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Melbourne, VIC, Australia.
Publikováno v:
Clinical epigenetics [Clin Epigenetics] 2023 Jun 03; Vol. 15 (1), pp. 95. Date of Electronic Publication: 2023 Jun 03.
Autor:
Walker R; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia., Mahmood K; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia.; Melbourne Bioinformatics, The University of Melbourne, Melbourne, VIC 3051, Australia., Joo JE; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia., Clendenning M; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia., Georgeson P; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia., Como J; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia., Joseland S; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia., Preston SG; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia., Antill Y; Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC 3050, Australia.; Familial Cancer Centre, Cabrini Health, Malvern, VIC 3144, Australia.; Familial Cancer Centre, Monash Health, Clayton, VIC 3168, Australia.; Faculty of Medicine, Dentistry and Health Sciences, Monash University, Melbourne, VIC 3800, Australia., Austin R; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia., Boussioutas A; Central Clinical School, Monash University, Melbourne, VIC 3004, Australia.; Department of Gastroenterology, The Alfred Hospital, Melbourne, VIC 3004, Australia.; Department of Medicine, The Royal Melbourne Hospital, Melbourne, VIC 3010, Australia.; Familial Cancer Centre, Peter MacCallum Cancer Centre, Parkville, VIC 3000, Australia., Bowman M; Familial Cancer Service, Westmead Hospital, Sydney, NSW 2145, Australia., Burke J; Tasmanian Clinical Genetics Service, Royal Hobart Hospital, Hobart, TAS 7000, Australia.; School of Medicine, University of Tasmania, Sandy Bay, TAS 7005 Australia., Campbell A; Clinical Genetics Unit, Austin Health, Melbourne, VIC 3084, Australia., Daneshvar S; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia., Edwards E; Familial Cancer Service, Westmead Hospital, Sydney, NSW 2145, Australia., Gleeson M; Hunter Family Cancer Service, Newcastle, NSW 2298, Australia., Goodwin A; Cancer Genetics Department, Royal Prince Alfred Hospital, Camperdown, NSW 2050, Australia.; University of Sydney, Sydney, NSW 2050, Australia., Harris MT; Monash Health Familial Cancer Centre, Clayton, VIC 3168, Australia., Henderson A; Genetic Health Service, Wellington, Greater Wellington, 6242, New Zealand.; Wellington Hospital, Newtown, Greater Wellington 6021, New Zealand., Higgins M; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia.; University of Queensland, St Lucia, QLD 4067, Australia., Hopper JL; Centre for Epidemiology and Biostatistics, The University of Melbourne, Parkville, Melbourne, Victoria, 3010, Australia., Hutchinson RA; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia., Ip E; Cancer Genetics service, Liverpool Hospital, Liverpool, NSW 2170, Australia., Isbister J; Genomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC 3000, Australia.; Department of Medicine, The University of Melbourne, VIC 3000, Australia.; Parkville Familial Cancer Centre, Peter McCallum Cancer Centre, Melbourne, VIC 3000, Australia., Kasem K; Department of Clinical Pathology, Medicine Dentistry and Health Sciences, The University of Melbourne, Parkville, Victoria, Australia., Marfan H; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia., Milnes D; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia.; Royal Brisbane and Women's Hospital, Herston, QLD 4029, Australia., Ng A; Cancer Genetics Department, Royal Prince Alfred Hospital, Camperdown, NSW 2050, Australia., Nichols C; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA 6008, Australia., O'Connell S; Monash Health Familial Cancer Centre, Clayton, VIC 3168, Australia., Pachter N; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA 6008, Australia.; Medical School, University of Western Australia, Perth, WA 6009, Australia.; School of Medicine, Curtin University, Perth, WA 6845, Australia., Pope BJ; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.; Melbourne Bioinformatics, The University of Melbourne, Melbourne, VIC 3051, Australia., Poplawski N; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA 5000, Australia.; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia., Ragunathan A; Familial Cancer Service, Westmead Hospital, Sydney, NSW 2145, Australia., Smyth C; Familial Cancer Centre, Monash Health, Clayton, VIC 3168, Australia., Spigelman A; Hunter Family Cancer Service, Newcastle, NSW 2298, Australia.; St Vincent's Cancer Genetics Unit, Sydney, NSW 2290, Australia.; Surgical Professorial Unit, UNSW Clinical School of Clinical Medicine, Sydney, NSW 2052, Australia., Storey K; Parkville Familial Cancer Centre, Peter McCallum Cancer Centre, Melbourne, VIC 3000, Australia., Susman R; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia., Taylor JA; Genomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC 3000, Australia., Warwick L; ACT Genetic Service, The Canberra Hospital, Woden, ACT 2606, Australia., Wilding M; Familial Cancer Service, Royal North Shore Hospital, St Leonards, NSW 2065, Australia., Williams R; Prince of Wales Clinical School, UNSW Medicine and Health, UNSW Sydney, Kensington, NSW 2052, Australia.; Prince of Wales Hereditary Cancer Centre, Prince of Wales Hospital, Randwick, NSW 2031, Australia., Win AK; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia.; Centre for Epidemiology and Biostatistics, The University of Melbourne, Parkville, Melbourne, Victoria, 3010, Australia.; Genomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC 3000, Australia., Walsh MD; Sullivan Nicolaides Pathology, Bowen Hills, QLD 4006, Australia.; School of Biomedical Sciences, Queensland University of Technology, Brisbane, QLD 4072, Australia., Macrae FA; Genomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC 3000, Australia.; Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Parkville, Victoria, Australia., Jenkins MA; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia.; Centre for Epidemiology and Biostatistics, The University of Melbourne, Parkville, Melbourne, Victoria, 3010, Australia., Rosty C; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia.; Envoi Specialist Pathologists, Brisbane, QLD 4059, Australia.; University of Queensland, Brisbane, QLD 4072, Australia., Winship IM; Genomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC 3000, Australia.; Department of Medicine, The University of Melbourne, VIC 3000, Australia., Buchanan DD; Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia.; Genomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC 3000, Australia.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2023 Mar 01. Date of Electronic Publication: 2023 Mar 01.