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914 results

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Page 1
Sebaceous carcinoma epidemiology, associated malignancies and Lynch/Muir-Torre syndrome screening in England from 2008 to 2018.
Cook S, Pethick J, Kibbi N, Hollestein L, Lavelle K, de Vere Hunt I, Turnbull C, Rous B, Husain A, Burn J, Lüchtenborg M, Santaniello F, McRonald F, Hardy S, Linos E, Venables Z, Rajan N. Cook S, et al. Among authors: burn j. J Am Acad Dermatol. 2023 Dec;89(6):1129-1135. doi: 10.1016/j.jaad.2023.03.046. Epub 2023 Apr 7. J Am Acad Dermatol. 2023. PMID: 37031776 Free article.
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.
Loong L, Huntley C, McRonald F, Santaniello F, Pethick J, Torr B, Allen S, Tulloch O, Goel S, Shand B, Rahman T, Luchtenborg M, Garrett A, Barber R, Bedenham T, Bourn D, Bradshaw K, Brooks C, Bruty J, Burghel GJ, Butler S, Buxton C, Callaway A, Callaway J, Drummond J, Durkie M, Field J, Jenkins L, McVeigh TP, Mountford R, Nyanhete R, Petrides E, Robinson R, Scott T, Stinton V, Tellez J, Wallace AJ, Yarram-Smith L, Sahan K, Hallowell N, Eccles DM, Pharoah P, Tischkowitz M, Antoniou AC, Evans DG, Lalloo F, Norbury G, Morris E, Burn J, Hardy S, Turnbull C. Loong L, et al. Among authors: burn j. J Med Genet. 2023 Jul;60(7):669-678. doi: 10.1136/jmg-2022-108800. Epub 2022 Dec 26. J Med Genet. 2023. PMID: 36572524 Free PMC article.
A novel colorectal cancer test combining microsatellite instability and BRAF/RAS analysis: Clinical validation and impact on Lynch syndrome screening.
Gallon R, Herrero-Belmonte P, Phelps R, Hayes C, Sollars E, Egan D, Spiewak H, Nalty S, Mills S, Loo PS, Borthwick GM, Santibanez-Koref M, Burn J, McAnulty C, Jackson MS. Gallon R, et al. Among authors: burn j. BJC Rep. 2024;2(1):48. doi: 10.1038/s44276-024-00072-8. Epub 2024 Jul 1. BJC Rep. 2024. PMID: 38962168 Free PMC article.
Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors.
Rasmussen M, Sowter P, Gallon R, Durhuus JA, Hayes C, Andersen O, Nilbert M, Schejbel L, Høgdall E, Santibanez-Koref M, Jackson MS, Burn J, Therkildsen C. Rasmussen M, et al. Among authors: burn j. Front Oncol. 2023 Apr 18;13:1147591. doi: 10.3389/fonc.2023.1147591. eCollection 2023. Front Oncol. 2023. PMID: 37143941 Free PMC article.
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, Goldb… See abstract for full author list ➔ Dominguez-Valentin M, et al. Among authors: burn j. EClinicalMedicine. 2023 Mar 20;58:101909. doi: 10.1016/j.eclinm.2023.101909. eCollection 2023 Apr. EClinicalMedicine. 2023. PMID: 37181409 Free PMC article.
Risk-stratified faecal immunochemical testing (FIT) for urgent colonoscopy in Lynch syndrome during the COVID-19 pandemic.
Lincoln AG, Benton SC, Piggott C, Sheikh SR, Beggs AD, Buckley L, DeSouza B, East JE, Sanders P, Lim M, Sheehan D, Snape K, Hanson H, Greenaway JR, Burn J, Nylander D, Hawkins M, Lalloo F, Green K, Lee TJ, Walker J, Matthews G, Rutherford T, Sasieni P, Monahan KJ. Lincoln AG, et al. Among authors: burn j. BJS Open. 2023 Sep 5;7(5):zrad079. doi: 10.1093/bjsopen/zrad079. BJS Open. 2023. PMID: 37668669 Free PMC article.
Dominantly inherited micro-satellite instable cancer - the four Lynch syndromes - an EHTG, PLSD position statement.
Møller P, Seppälä TT, Ahadova A, Crosbie EJ, Holinski-Feder E, Scott R, Haupt S, Möslein G, Winship I, Broeke SWB, Kohut KE, Ryan N, Bauerfeind P, Thomas LE, Evans DG, Aretz S, Sijmons RH, Half E, Heinimann K, Horisberger K, Monahan K, Engel C, Cavestro GM, Fruscio R, Abu-Freha N, Zohar L, Laghi L, Bertario L, Bonanni B, Tibiletti MG, Lino-Silva LS, Vaccaro C, Valle AD, Rossi BM, da Silva LA, de Oliveira Nascimento IL, Rossi NT, Dębniak T, Mecklin JP, Bernstein I, Lindblom A, Sunde L, Nakken S, Heuveline V, Burn J, Hovig E, Kloor M, Sampson JR, Dominguez-Valentin M; Prospective Lynch Syndrome Database (www.plsd.eu) and The European Hereditary Tumour Group (www.ehtg.org). Møller P, et al. Among authors: burn j. Hered Cancer Clin Pract. 2023 Oct 11;21(1):19. doi: 10.1186/s13053-023-00263-3. Hered Cancer Clin Pract. 2023. PMID: 37821984 Free PMC article. Review.
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gallon R, Phelps R, Hayes C, Brugieres L, Guerrini-Rousseau L, Colas C, Muleris M, Ryan NAJ, Evans DG, Grice H, Jessop E, Kunzemann-Martinez A, Marshall L, Schamschula E, Oberhuber K, Azizi AA, Baris Feldman H, Beilken A, Brauer N, Brozou T, Dahan K, Demirsoy U, Florkin B, Foulkes W, Januszkiewicz-Lewandowska D, Jones KJ, Kratz CP, Lobitz S, Meade J, Nathrath M, Pander HJ, Perne C, Ragab I, Ripperger T, Rosenbaum T, Rueda D, Sarosiek T, Sehested A, Spier I, Suerink M, Zimmermann SY, Zschocke J, Borthwick GM, Wimmer K, Burn J, Jackson MS, Santibanez-Koref M. Gallon R, et al. Among authors: burn j. Gastroenterology. 2023 Apr;164(4):579-592.e8. doi: 10.1053/j.gastro.2022.12.017. Epub 2022 Dec 29. Gastroenterology. 2023. PMID: 36586540 Free article.
Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated "Big Bang" pathway to CRC in three of the four Lynch syndromes.
Møller P, Haupt S, Ahadova A, Kloor M, Sampson JR, Sunde L, Seppälä T, Burn J, Bernstein I, Capella G, Evans DG, Lindblom A, Winship I, Macrae F, Katz L, Laish I, Vainer E, Monahan K, Half E, Horisberger K, da Silva LA, Heuveline V, Therkildsen C, Lautrup C, Klarskov LL, Cavestro GM, Möslein G, Hovig E, Dominguez-Valentin M. Møller P, et al. Among authors: burn j. Hered Cancer Clin Pract. 2024 May 13;22(1):6. doi: 10.1186/s13053-024-00279-3. Hered Cancer Clin Pract. 2024. PMID: 38741120 Free PMC article.
Detection of constitutional mismatch repair deficiency in children and adolescents with acute lymphoblastic leukemia.
Gallon R, Phelps R, Betts L, Hayes C, Masic D, Irving JAE, McAnulty C, Saha V, Vora A, Wimmer K, Motwani J, Macartney C, Burn J, Jackson MS, Moorman AV, Santibanez-Koref M. Gallon R, et al. Among authors: burn j. Leuk Lymphoma. 2023 Jan;64(1):217-220. doi: 10.1080/10428194.2022.2131412. Epub 2022 Oct 22. Leuk Lymphoma. 2023. PMID: 36272172 No abstract available.
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