Results 71 to 80 of about 1,020 (131)

High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers [PDF]

, 2019
Introduction: Lynch syndrome (LS) and constitutional mismatch repair deficiency (CMMRD) are hereditary cancer syndromes associated with mismatch repair (MMR) deficiency.
Ripperger, Tim, Lázaro, Conxi, González Acosta, María Isabel, Rueda, Daniel, Kratz, Christian, Guerra García, Pilar, Marín, Fátima, Balaguer Prunés, Francesc, Dahan, Karin, Guerra-García, Pilar, Azizi, Amedeo A, González Granado, Luis Ignacio, Nathrath, Michaela, Salvador, Héctor, Imschweiler, thomas, Balaguer, Francesc, Demirsoy, Ugur, Moreno, Victor, Grau Garcés, Èlia, Suerink, Manon, Navarro, Matilde, Azizi, Amedeo A., Moreno Aguado, Víctor, Pander, Hans-Jürgen, Capellá, Gabriel, Bonifaci Cano, Núria, Velasco, Àngela, Wimmer, Katharina, Januszkiewicz-Lewandowska, Danuta, Capellá, G. (Gabriel), Iglesias, Silvia, Ayala, Rosa, Gonzalez-Granado, Luis Ignacio, Florkin, Benoît, Ragab, Iman, Puliafito, Benjamin, Rosenbaum, Thorsten, Pineda, Marta, Fernández, Anna, Lázaro García, Conxi, Bonifaci, Nuria, Lobitz, Stephan, González-Acosta, Maribel, Brunet, Joan   +43 more
core   +1 more source

Case report: a rare case of hereditary colorectal cancer and brain tumor with café au lait spots in a child: constitutional mismatch repair deficiency (CMMRD) syndrome

Egyptian Pediatric Association Gazette
Background Colorectal carcinoma (CRC) is rarely seen in the pediatric population. Hereditary cancers due to mismatch repair deficiency cause colorectal, brain, hematological malignancies, and other tumors in early childhood.
Zubair Khurshid, Mishraz Shaikh, Tarek Talaat Harb Elkadi   +2 more
doaj   +1 more source

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes

, 2019
peer reviewedConstitutional mismatch repair deficiency (CMMRD) is caused by germline pathogenic variants in both alleles of a mismatch repair gene. Patients have an exceptionally high risk of numerous pediatric malignancies and benefit from surveillance ...
Rueda, Daniel, Rosenbaum, T., Lobitz, S., Zimmermann, S.-Y., Rueda, D., Florkin, B., Mühlegger, Barbara, Taeubner, J., Zschocke, J., Chong, A.L., Gallon, R., Nathrath, Michaela, Jackson, Michael S, Aretz, Stefan, Zimmermann, S.Y., Hayes, Christine, Suerink, Manon, Chong, A.-L., Florkin, Benoit, Pander, Hans-Jürgen, Zschocke, Johannes, Wimmer, Katharina, Borthwick, G. M., Imschweiler, Thomas, Perne, Claudia, Burn, John, Perne, C., Perez-Alonso, Vanesa, Foulkes, William, Wenzel, S.-S., Baris Feldman, H., Santibanez-Koref, M., Ragab, Iman, Pander, H.-J., Borthwick, G.M., Rosenbaum, Thorsten, Azizi, A.A., Borthwick, Gillian M, Lobitz, Stephan, Ripperger, T., Pander, H.J., Dahan, K., Nathrath, M., Ripperger, Tim, Seidel, Markus G, Mühlegger, B., Jackson, M. S., Baris Feldman, Hagit, Kratz, C.P., Hayes, C., Azizi, A. A., Imschweiler, T., Ragab, I., Dahan, Karin, Kratz, Christian P, Taeubner, Julia, Demirsoy, U., Azizi, Amedeo A, Aretz, S., Seidel, M.G., Seidel, M. G., Suerink, M., Wimmer, K., Zimmermann, Stefanie-Yvonne, Feldman, H.B., Demirsoy, Ugur, Sheth, Harsh, Sheth, H., Santibanez-Koref, Mauro, Kratz, C. P., Gallon, Richard, Foulkes, W., Chong, Anne-Laure, Januszkiewicz-Lewandowska, Danuta, Januszkiewicz-Lewandowska, D., Wenzel, S.S., Burn, J., Perez-Alonso, V., Wenzel, Sören-Sebastian, Jackson, M.S.   +79 more
core   +1 more source

Abstracts

Molecular Oncology, Volume 19, Issue S1, Page 1-940, June 2025.
Abstracts submitted to the ‘EACR 2025 Congress: Innovative Cancer Science’, from 16–19 June 2025 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley   +1 more source

Immune Checkpoint Inhibition in Pediatric Oncology Patients: A Single-Institution Experience

Hemato
Immunotherapy has emerged as a promising treatment approach in oncology, as it is specifically designed to boost the strength and accuracy of the immune system, allowing it to target tumor cells but spare non-tumor tissue.
Natalia Wojciechowska, Kaci Orr, Karen Albritton, Kenneth Heym, Kelly Vallance, Lauren Murray, Rocio Aguilar, Anish Ray   +7 more
doaj   +1 more source

A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency [PDF]

Inestabilitat de microsatèl·lits; Variants patògenesMicrosatellite Instability; Pathogenic variantsInestabilidad de microsatélites; Variantes patógenasBackground Constitutional mismatch repair deficiency (CMMRD) is a rare and extraordinarily penetrant ...
Carrasco Lopez, Estela, Sabado, Constantino, Bianchi, Vanessa, Canet-Hermida, Júlia, Wimmer, Katharina, Marín Nieto, Fátima, Chung, Jiil, Foulkes, William   +7 more
core   +1 more source

Publication Only

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

RARE-55. Challenges and specific strategies for constitutional mismatch repair deficiency syndrome in low resource settings. on behalf of the international RRD consortium in low resource settings panel

, 2020
Germline biallelic mutations in one of the mismatch repair genes (MSH2/MSH6/MLH1/PMS2 results in constitutional mismatch repair deficiency (CMMRD), a condition associated with multiple tumors arising from multiple organs during childhood, and these ...
Rana, Asim Noor, El Houdzi, Jamilla, Abedalthagafi, Malak, Al Lamki, Zakiya, Yazıcı, Hulya, El-Naggar, S, Kirmani, Salman, Kebudi, Rejin, Musthaq, Naureen, N, Nisreen Amayiri   +9 more
core  

The impact of international care networks on the clinical management of constitutional mismatch repair deficiency (CMMRD): a review of recent developments. [PDF]

Fam Cancer
Vasen HFA, Wimmer K, van Kouwen M, Guerrini-Rousseau L, Gattini D, Stengs L, Tabori U, Colas C, Das A.   +8 more
europepmc   +1 more source

Distinct mutational signature and clonal evolution in constitutional mismatch repair deficiency-associated high-grade gliomas. [PDF]

iScience
Li C, Erson-Omay EZ, Koksal Y, Unal E, Kara B, Bilguvar K, Paksoy Y, Durmus NA, Kurtsoy A, Per H, Østergaard JR, Günel M, Çağlayan AO.   +12 more
europepmc   +1 more source