A novel colorectal cancer test combining microsatellite instability and BRAF/RAS analysis: Clinical validation and impact on Lynch syndrome screening

Autor: Richard Gallon, Patricia Herrero-Belmonte, Rachel Phelps, Christine Hayes, Elizabeth Sollars, Daniel Egan, Helena Spiewak, Sam Nalty, Sarah Mills, Peh Sun Loo, Gillian M. Borthwick, Mauro Santibanez-Koref, John Burn, Ciaron McAnulty, Michael S. Jackson

Publikováno v: BJC Reports, Vol 2, Iss 1, Pp 1-11 (2024)

Abstract Background Lynch syndrome (LS) is under-diagnosed. UK National Institute for Health and Care Excellence guidelines recommend multistep molecular testing of all colorectal cancers (CRCs) to screen for LS. However, the complexity of the pathwa

Externí odkaz: https://doaj.org/article/a83bafbb709a45cea3903a4046c1df92

Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors

Autor: Maria Rasmussen, Peter Sowter, Richard Gallon, Jon Ambæk Durhuus, Christine Hayes, Ove Andersen, Mef Nilbert, Lone Schejbel, Estrid Høgdall, Mauro Santibanez-Koref, Michael S. Jackson, John Burn, Christina Therkildsen

Publikováno v: Frontiers in Oncology, Vol 13 (2023)

IntroductionLynch syndrome-associated cancer develops due to germline pathogenic variants in one of the mismatch repair (MMR) genes, MLH1, MSH2, MSH6 or PMS2. Somatic second hits in tumors cause MMR deficiency, testing for which is used to screen for

Externí odkaz: https://doaj.org/article/aefb11b3469d4b6386bfbc662f64a362

Detection of constitutional mismatch repair deficiency in children and adolescents with acute lymphoblastic leukemia

Autor: Richard, Gallon, Rachel, Phelps, Leigh, Betts, Christine, Hayes, Dino, Masic, Julie A E, Irving, Ciaron, McAnulty, Vaskar, Saha, Ajay, Vora, Katharina, Wimmer, Jayashree, Motwani, Christine, Macartney, John, Burn, Michael S, Jackson, Anthony V, Moorman, Mauro, Santibanez-Koref

Publikováno v: Leukemia & Lymphoma. 64:217-220

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fbf34ac043a5225a51f9fe2b0539f4d
https://doi.org/10.1080/10428194.2022.2131412

Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency

Autor: Richard Gallon, Rachel Phelps, Christine Hayes, Laurence Brugieres, Léa Guerrini-Rousseau, Chrystelle Colas, Martine Muleris, Neil A.J. Ryan, D. Gareth Evans, Hannah Grice, Emily Jessop, Annabel Kunzemann-Martinez, Lilla Marshall, Esther Schamschula, Klaus Oberhuber, Amedeo A. Azizi, Hagit Baris Feldman, Andreas Beilken, Nina Brauer, Triantafyllia Brozou, Karin Dahan, Ugur Demirsoy, Benoît Florkin, William Foulkes, Danuta Januszkiewicz-Lewandowska, Kristi J. Jones, Christian P. Kratz, Stephan Lobitz, Julia Meade, Michaela Nathrath, Hans-Jürgen Pander, Claudia Perne, Iman Ragab, Tim Ripperger, Thorsten Rosenbaum, Daniel Rueda, Tomasz Sarosiek, Astrid Sehested, Isabel Spier, Manon Suerink, Stefanie-Yvonne Zimmermann, Johannes Zschocke, Gillian M. Borthwick, Katharina Wimmer, John Burn, Michael S. Jackson, Mauro Santibanez-Koref

Publikováno v: Gallon, R, Phelps, R, Hayes, C, Brugieres, L, Guerrini-Rousseau, L, Colas, C, Muleris, M, Ryan, N A J, Evans, D G, Grice, H, Jessop, E, Kunzemann-Martinez, A, Marshall, L, Schamschula, E, Oberhuber, K, Azizi, A A, Baris Feldman, H, Beilken, A, Brauer, N, Brozou, T, Dahan, K, Demirsoy, U, Florkin, B, Foulkes, W, Januszkiewicz-Lewandowska, D, Jones, K J, Kratz, C P, Lobitz, S, Meade, J, Nathrath, M, Pander, H-J, Perne, C, Ragab, I, Ripperger, T, Rosenbaum, T, Rueda, D, Sarosiek, T, Sehested, A, Spier, I, Suerink, M, Zimmermann, S-Y, Zschocke, J, Borthwick, G M, Wimmer, K, Burn, J, Jackson, M S & Santibanez-Koref, M 2023, ' Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency ', Gastroenterology, vol. 164, no. 4, pp. 579-592.e8 . https://doi.org/10.1053/j.gastro.2022.12.017

BACKGROUND & AIMS: Constitutional mismatch repair deficiency (CMMRD) is a rare recessive childhood cancer predisposition syndrome caused by germline mismatch repair variants. Constitutional microsatellite instability (cMSI) is a CMMRD diagnostic hall

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2f9c31dd5604b2681e0b38c8e5c76ee
https://www.pure.ed.ac.uk/ws/files/342899380/1_s2.0_S0016508522014445_main.pdf

A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and proficient tumours.

Autor: Lisa Redford, Ghanim Alhilal, Stephanie Needham, Ottie O'Brien, Julie Coaker, John Tyson, Leonardo Maldaner Amorim, Iona Middleton, Osagi Izuogu, Mark Arends, Anca Oniscu, Ángel Miguel Alonso, Sira Moreno Laguna, Richard Gallon, Harsh Sheth, Mauro Santibanez-Koref, Michael S Jackson, John Burn

Publikováno v: PLoS ONE, Vol 13, Iss 8, p e0203052 (2018)

Somatic mutations in mononucleotide repeats are commonly used to assess the mismatch repair status of tumours. Current tests focus on repeats with a length above 15bp, which tend to be somatically more unstable than shorter ones. These longer repeats

Externí odkaz: https://doaj.org/article/3e880ba13c9140f9962856f4f8dc8fd2