Results 21 to 30 of about 1,537,452 (154)

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

, 2022
BACKGROUND & AIMS: Constitutional mismatch repair deficiency (CMMRD) is a rare recessive childhood cancer predisposition syndrome caused by germline mismatch repair variants.
Kunzemann-Martinez, Annabel, Jones, Kristi J, Brozou, Triantafyllia, Rueda, Daniel, Ryan, Neil A.J., Nathrath, Michaela, Jackson, Michael S, Marshall, Lilla, Guerrini-Rousseau, Léa, Oberhuber, Klaus, Hayes, Christine, Suerink, Manon, Grice, Hannah, Meade, Julia, Borthwick, Gillian, M, Schamschula, Esther, Pander, Hans-Jürgen, Zschocke, Johannes, Jones, Kristi, J, Muleris, Martine, Wimmer, Katharina, Perne, Claudia, Burn, John, Foulkes, William, Brugieres, Laurence, Ragab, Iman, Sehested, Astrid, Rosenbaum, Thorsten, Borthwick, Gillian M, Lobitz, Stephan, Ripperger, Tim, Baris Feldman, Hagit, Brauer, Nina, Dahan, Karin, Kratz, Christian P, Azizi, Amedeo A, Jessop, Emily, Kratz, Christian, P, Ryan, Neil A J, Zimmermann, Stefanie-Yvonne, Demirsoy, Ugur, Sarosiek, Tomasz, Santibanez-Koref, Mauro, Colas, Chrystelle, Gallon, Richard, Beilken, Andreas, Evans, D Gareth, Januszkiewicz-Lewandowska, Danuta, Florkin, Benoît, Phelps, Rachel, Azizi, Amedeo, A, Spier, Isabel, Evans, D. Gareth, Jackson, Michael, S   +53 more
core   +4 more sources

Challenges of Neoantigen Targeting in Lynch Syndrome and Constitutional Mismatch Repair Deficiency Syndrome [PDF]

Cancers, 2021
Gerty Schreibelt, I Jolanda M de Vries, Hoogerbrugge N   +2 more
exaly   +2 more sources

Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature

The Turkish Journal of Pediatrics, 2021
Background. Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare childhood cancer predisposition syndrome resulting from biallelic germline mutations of mismatch repair (MMR) genes.
Derya Özyörük, Emel Ünal Cabı, Nurdan Taçyıldız, Ferda Pınarlı, Ayşe Oğuz Erdoğan, Şahin Hanalioğlu, Arzu Yazal Erdem, Arzu Meltem Demir   +7 more
doaj   +1 more source

Frameshift mutation spectra overlap between constitutional mismatch repair deficiency tumors and Lynch syndrome tumors [PDF]

The Journal of Clinical Investigation
Yurong Song, Ryan N. Baugher, Todd B. Young, Brandon Somerville, Yuriko Mori, Ligia A. Pinto, Kim E. Nichols, Robert H. Shoemaker   +7 more
doaj   +2 more sources

Case Report: Malignant Brain Tumors in Siblings With MSH6 Mutations

Frontiers in Oncology, 2022
BackgroundFamilial brain tumor incidences are low. Identifying the genetic alterations of familial brain tumors can help better understand the pathogenesis and make therapy regimens for these tumors.Case PresentationAn elder female and a younger male ...
Di Wu, Qingshan Chen, Jian Chen, Jian Chen   +3 more
doaj   +1 more source

Mismatch repair deficiency in early‐onset duodenal, ampullary, and pancreatic carcinomas is a strong indicator for a hereditary defect

The Journal of Pathology: Clinical Research, 2022
Mismatch repair deficiency (dMMR) is a hallmark of Lynch syndrome (LS), but its prevalence in early‐onset (diagnosed under the age of 50 years) duodenal, ampullary, and pancreatic carcinomas (DC, AC, and PC, respectively) is largely unknown.
Valentyna Kryklyva, Lodewijk AA Brosens, Monica AJ Marijnissen‐van Zanten, Marjolijn JL Ligtenberg, Iris D Nagtegaal   +4 more
doaj   +1 more source

Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1 [PDF]

Genetics in Medicine, 2020
Katharina Wimmer, Ludwine Messiaen, Richard Gallon   +2 more
exaly   +2 more sources

Assessment of mismatch repair deficiency in ovarian cancer

, 2021
BACKGROUND: Hereditary causes of ovarian cancer include Lynch syndrome, which is due to inherited pathogenic variants affecting one of the four mismatch repair genes involved in DNA repair.
Crosbie, Emma J, McVey, Rhona J, Lalloo, Fiona, Clancy, Tara, Crosbie, Emma; id_orcid, Evans, D Gareth, Woodward, Emma R, Bolton, James, McVey, Rhona J., Wallace, Andrew J, Ryan, Neil A J, Bowers, Naomi, Evans, D Gareth; id_orcid, McMahon, Raymond F, Wallace, Andrew J., Ryan, Neil, McMahon, Ray, Woodward, Emma; id_orcid, Green, Kate   +18 more
core   +1 more source

Constitutional mismatch repair deficiency–associated brain tumors: report from the European C4CMMRD consortium [PDF]

Neuro-Oncology Advances, 2019
Christine Devalck, Franck Bourdeaut, Katharina Wimmer   +2 more
exaly   +2 more sources

Cerebral developmental venous anomalies in children with mismatch repair deficiency

The Turkish Journal of Pediatrics, 2022
Background. Constitutional mismatch repair deficiency (CMMRD) is one of the rare cancer predisposition syndromes. The aim of this study was to evaluate the cerebral developmental venous anomalies in children with central nervous system tumors ...
Buket Kara, Yahya Paksoy, Ahmet Okay Çağlayan, Nusret Seher, Hilal Akbaş, Yavuz Köksal   +5 more
doaj   +1 more source