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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: como j. 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.
Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome.
Pope BJ, Clendenning M, Rosty C, Mahmood K, Georgeson P, Joo JE, Walker R, Hutchinson RA, Jayasekara H, Joseland S, Como J, Preston S, Spurdle AB, Macrae FA, Win AK, Hopper JL, Jenkins MA, Winship IM, Buchanan DD. Pope BJ, et al. Among authors: como j. J Mol Diagn. 2021 Mar;23(3):358-371. doi: 10.1016/j.jmoldx.2020.12.003. Epub 2020 Dec 29. J Mol Diagn. 2021. PMID: 33383211 Free PMC article.
Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers.
Georgeson P, Pope BJ, Rosty C, Clendenning M, Mahmood K, Joo JE, Walker R, Hutchinson RA, Preston S, Como J, Joseland S, Win AK, Macrae FA, Hopper JL, Mouradov D, Gibbs P, Sieber OM, O'Sullivan DE, Brenner DR, Gallinger S, Jenkins MA, Winship IM, Buchanan DD. Georgeson P, et al. Among authors: como j. Gut. 2021 Nov;70(11):2138-2149. doi: 10.1136/gutjnl-2019-320462. Epub 2021 Jan 7. Gut. 2021. PMID: 33414168 Free PMC article.
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.
Chan JM, Clendenning M, Joseland S, Georgeson P, Mahmood K, Walker R, Como J, Joo JE, Preston S, Hutchinson RA, Pope BJ, Metz A, Beard C, Purvis R, Arnold J, Vijay V, Konycheva G, Atkinson N, Parry S, Jenkins MA, Macrae FA, Rosty C, Winship IM, Buchanan DD. Chan JM, et al. Among authors: como j. Fam Cancer. 2022 Oct;21(4):399-413. doi: 10.1007/s10689-021-00283-9. Epub 2021 Nov 24. Fam Cancer. 2022. PMID: 34817745
Quantitative Pathologic Analysis of Digitized Images of Colorectal Carcinoma Improves Prediction of Recurrence-Free Survival.
Pai RK, Banerjee I, Shivji S, Jain S, Hartman D, Buchanan DD, Jenkins MA, Schaeffer DF, Rosty C, Como J, Phipps AI, Newcomb PA, Burnett-Hartman AN, Le Marchand L, Samadder NJ, Patel B, Swallow C, Lindor NM, Gallinger SJ, Grant RC, Westerling-Bui T, Conner J, Cyr DP, Kirsch R, Pai RK. Pai RK, et al. Among authors: como j. Gastroenterology. 2022 Dec;163(6):1531-1546.e8. doi: 10.1053/j.gastro.2022.08.025. Epub 2022 Aug 17. Gastroenterology. 2022. PMID: 35985511 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: como j. 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.
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: como j. 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.
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: como j. 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.
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: como j. Clin Epigenetics. 2023 Jun 3;15(1):95. doi: 10.1186/s13148-023-01511-y. Clin Epigenetics. 2023. PMID: 37270516 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: como j. Cancers (Basel). 2023 Oct 10;15(20):4925. doi: 10.3390/cancers15204925. Cancers (Basel). 2023. PMID: 37894291 Free PMC article.
152 results