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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: macrae fa. 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.
Cohort Profile: The Colon Cancer Family Registry Cohort (CCFRC).
Jenkins MA, Win AK, Templeton AS, Angelakos MS, Buchanan DD, Cotterchio M, Figueiredo JC, Thibodeau SN, Baron JA, Potter JD, Hopper JL, Casey G, Gallinger S, Le Marchand L, Lindor NM, Newcomb PA, Haile RW; Colon Cancer Family Registry Cohort Investigators. Jenkins MA, et al. Int J Epidemiol. 2018 Apr 1;47(2):387-388i. doi: 10.1093/ije/dyy006. Int J Epidemiol. 2018. PMID: 29490034 Free PMC article. No abstract available.
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: macrae fa. 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.
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database.
Dominguez-Valentin M, Haupt S, Seppälä TT, Sampson JR, Sunde L, Bernstein I, Jenkins MA, Engel C, Aretz S, Nielsen M, Capella G, Balaguer F, Evans DG, Burn J, Holinski-Feder E, Bertario L, Bonanni B, Lindblom A, Levi Z, Macrae F, Winship I, Plazzer JP, Sijmons R, Laghi L, Della Valle A, Heinimann K, Dębniak T, Fruscio R, Lopez-Koestner F, Alvarez-Valenzuela K, Katz LH, Laish I, Vainer E, Vaccaro C, Carraro DM, Monahan K, Half E, Stakelum A, Winter D, Kennelly R, Gluck N, Sheth H, Abu-Freha N, Greenblatt M, Rossi BM, Bohorquez M, Cavestro GM, Lino-Silva LS, Horisberger K, Tibiletti MG, Nascimento ID, Thomas H, Rossi NT, Apolinário da Silva L, Zaránd A, Ruiz-Bañobre J, Heuveline V, Mecklin JP, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Peltomäki P, Therkildsen C, Madsen MG, Burgdorf SK, Hopper JL, Win AK, Haile RW, Lindor N, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo J, Buchanan DD, Thibodeau SN, von Knebel Doeberitz M, Loeffler M, Rahner N, Schröck E, Steinke-Lange V, Schmiegel W, Vangala D, Perne C, Hüneburg R, Redler S, Büttner R, Weitz J, Pineda M, Duenas N, Vidal JB, Moreira L, Sánchez A, Hovig E, Nakken S, Green K, Lalloo F, Hill J, Crosbie E, Mints M, Goldberg Y, … See abstract for full author list ➔ Dominguez-Valentin M, et al. EClinicalMedicine. 2023 Mar 20;58:101909. doi: 10.1016/j.eclinm.2023.101909. eCollection 2023 Apr. EClinicalMedicine. 2023. PMID: 37181409 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: macrae fa. Clin Epigenetics. 2023 Jun 3;15(1):95. doi: 10.1186/s13148-023-01511-y. Clin Epigenetics. 2023. PMID: 37270516 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: macrae fa. 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.
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: macrae fa. Cancers (Basel). 2023 Oct 10;15(20):4925. doi: 10.3390/cancers15204925. Cancers (Basel). 2023. PMID: 37894291 Free PMC article.
190 results