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Page 1
Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications.
Walker R, Joo JE, Mahmood K, Clendenning M, Como J, Preston SG, Joseland S, Pope BJ, Medeiros ABD, Murillo BV, Pachter N, Sweet K, Spigelman AD, Groves A, Gleeson M, Bernatowicz K, Poplawski N, Andrews L, Healey E, Gallinger S, Grant RC, Win AK, Hopper JL, Jenkins MA, Torrezan GT, Rosty C, Macrae FA, Winship IM, Buchanan DD, Georgeson P. Walker R, et al. Among authors: joseland s. medRxiv [Preprint]. 2024 Aug 9:2024.08.08.24311713. doi: 10.1101/2024.08.08.24311713. medRxiv. 2024. PMID: 39148833 Free PMC article. Preprint.
Intratumoral presence of the genotoxic gut bacteria pks+ E. coli, Enterotoxigenic Bacteroides fragilis, and Fusobacterium nucleatum and their association with clinicopathological and molecular features of colorectal cancer.
Joo JE, Chu YL, Georgeson P, Walker R, Mahmood K, Clendenning M, Meyers AL, Como J, Joseland S, Preston SG, Diepenhorst N, Toner J, Ingle DJ, Sherry NL, Metz A, Lynch BM, Milne RL, Southey MC, Hopper JL, Win AK, Macrae FA, Winship IM, Rosty C, Jenkins MA, Buchanan DD. Joo JE, et al. Among authors: joseland s. Br J Cancer. 2024 Mar;130(5):728-740. doi: 10.1038/s41416-023-02554-x. Epub 2024 Jan 10. Br J Cancer. 2024. PMID: 38200234 Free PMC article.
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family.
Chan JM, Clendenning M, Joseland S, Georgeson P, Mahmood K, Joo JE, Walker R, Como J, Preston S, Chai SM, Chu YL, Meyers AL, Pope BJ, Duggan D, Fink JL, Macrae FA, Rosty C, Winship IM, Jenkins MA, Buchanan DD. Chan JM, et al. Among authors: joseland s. Fam Cancer. 2024 Mar;23(1):9-21. doi: 10.1007/s10689-023-00351-2. Epub 2023 Dec 8. Fam Cancer. 2024. PMID: 38063999 Free PMC article.
DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands.
Walker R, Mahmood K, Como J, Clendenning M, Joo JE, Georgeson P, Joseland S, Preston SG, Pope BJ, Chan JM, Austin R, Bojadzieva J, Campbell A, Edwards E, Gleeson M, Goodwin A, Harris MT, Ip E, Kirk J, Mansour J, Mar Fan H, Nichols C, Pachter N, Ragunathan A, Spigelman A, Susman R, Christie M, Jenkins MA, Pai RK, Rosty C, Macrae FA, Winship IM, Buchanan DD; ANGELS Study. Walker R, et al. Among authors: joseland s. Cancers (Basel). 2023 Oct 10;15(20):4925. doi: 10.3390/cancers15204925. Cancers (Basel). 2023. PMID: 37894291 Free PMC article.
A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report.
Walker R, Clendenning M, Joo JE, Xue J, Mahmood K, Georgeson P, Como J, Joseland S, Preston SG, Chan JM, Jenkins MA, Rosty C, Macrae FA, Di Palma S, Campbell A, Winship IM, Buchanan DD. Walker R, et al. Among authors: joseland s. Fam Cancer. 2023 Oct;22(4):423-428. doi: 10.1007/s10689-023-00337-0. Epub 2023 Jun 15. Fam Cancer. 2023. PMID: 37318702 Free PMC article.
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.
Joo JE, 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 JL, Boussioutas A, Macrae FA, Dobrovic A, Jenkins MA, Rosty C, Winship IM, Buchanan DD. Joo JE, et al. Among authors: joseland s. Clin Epigenetics. 2023 Jun 3;15(1):95. doi: 10.1186/s13148-023-01511-y. Clin Epigenetics. 2023. PMID: 37270516 Free PMC article.
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
Walker R, Mahmood K, Joo JE, Clendenning M, Georgeson P, Como J, Joseland S, Preston SG, Antill Y, Austin R, Boussioutas A, Bowman M, Burke J, Campbell A, Daneshvar S, Edwards E, Gleeson M, Goodwin A, Harris MT, Henderson A, Higgins M, Hopper JL, Hutchinson RA, Ip E, Isbister J, Kasem K, Marfan H, Milnes D, Ng A, Nichols C, O'Connell S, Pachter N, Pope BJ, Poplawski N, Ragunathan A, Smyth C, Spigelman A, Storey K, Susman R, Taylor JA, Warwick L, Wilding M, Williams R, Win AK, Walsh MD, Macrae FA, Jenkins MA, Rosty C, Winship IM, Buchanan DD; Family Cancer Clinics of Australia. Walker R, et al. Among authors: joseland s. J Transl Med. 2023 Apr 26;21(1):282. doi: 10.1186/s12967-023-04143-1. J Transl Med. 2023. PMID: 37101184 Free PMC article.
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
Walker R, Mahmood K, Joo JE, Clendenning M, Georgeson P, Como J, Joseland S, Preston SG, Antill Y, Austin R, Boussioutas A, Bowman M, Burke J, Campbell A, Daneshvar S, Edwards E, Gleeson M, Goodwin A, Harris MT, Henderson A, Higgins M, Hopper JL, Hutchinson RA, Ip E, Isbister J, Kasem K, Marfan H, Milnes D, Ng A, Nichols C, O'Connell S, Pachter N, Pope BJ, Poplawski N, Ragunathan A, Smyth C, Spigelman A, Storey K, Susman R, Taylor JA, Warwick L, Wilding M, Williams R, Win AK, Walsh MD, Macrae FA, Jenkins MA, Rosty C, Winship IM, Buchanan DD; Family Cancer Clinics of Australia. Walker R, et al. Among authors: joseland s. medRxiv [Preprint]. 2023 Mar 1:2023.02.27.23285541. doi: 10.1101/2023.02.27.23285541. medRxiv. 2023. Update in: J Transl Med. 2023 Apr 26;21(1):282. doi: 10.1186/s12967-023-04143-1. PMID: 36909643 Free PMC article. Updated. Preprint.
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.
Anthony E, Reece JC, Milanzi E, Joo JE, Joseland S, Clendenning M, Whelan A, Parry S, Arnold J, Vijay V, Atkinson N, Hopper JL, Win AK, Jenkins MA, Macrae FA, Winship IM, Rosty C, Buchanan DD; Australasian Coloretal Cancer Family Registry; Family Cancer Clinics of Australia; Genetics of Colonic Polyposis Study. Anthony E, et al. Among authors: joseland s. BMC Gastroenterol. 2022 Nov 26;22(1):489. doi: 10.1186/s12876-022-02557-7. BMC Gastroenterol. 2022. PMID: 36435745 Free PMC article.
Evaluating Multiple Next-Generation Sequencing-Derived Tumor Features to Accurately Predict DNA Mismatch Repair Status.
Walker R, Georgeson P, Mahmood K, Joo JE, Makalic E, Clendenning M, Como J, Preston S, Joseland S, Pope BJ, Hutchinson RA, Kasem K, Walsh MD, Macrae FA, Win AK, Hopper JL, Mouradov D, Gibbs P, Sieber OM, O'Sullivan DE, Brenner DR, Gallinger S, Jenkins MA, Rosty C, Winship IM, Buchanan DD. Walker R, et al. Among authors: joseland s. J Mol Diagn. 2023 Feb;25(2):94-109. doi: 10.1016/j.jmoldx.2022.10.003. Epub 2022 Nov 15. J Mol Diagn. 2023. PMID: 36396080 Free PMC article.
16 results