Results 61 to 70 of about 1,020 (131)

T‐cell lymphoblastic lymphoma in constitutional mismatch repair deficiency (CMMRD): Exploring treatment opportunities [PDF]

HemaSphere
Emma Kroeze, Dilys D. Weijers, Michelle M. Kleisman, Uri Ilan, Reno S. Bladergroen, Rico Hagelaar, Jules P. P. Meijerink, Marjolijn C. J. Jongmans, Jan L. C. Loeffen, Roland P. Kuiper   +9 more
doaj   +2 more sources

Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)

BMC Medical Genetics, 2017
Background Constitutional mismatch repair deficiency syndrome results from bi-allelic inheritance of mutations affecting the key DNA mismatch repair genes: MLH1, MSH2, MSH6 or PMS2.
N. C. Ramchander, N. A. J. Ryan, E. J. Crosbie, D. G. Evans   +3 more
doaj   +1 more source

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

Background & aims: Constitutional mismatch repair deficiency (CMMRD) is a rare recessive childhood cancer predisposition syndrome caused by germline mismatch repair variants.
Schamschula E, Brauer N, Lobitz S, Brozou N, Januszkiewicz-Lewandowska D, Ripperger T, Rosenbaum T, Meade J, Hayes C, Wimmer K, Kunzemann-Martinez A, Sarosiek T, Grice H, Phelps R, Kratz CP, Perne C, Oberhuber K, Dahan K, Evans DG, Muleris M, Spier I, Ragab I, Burn J, Foulkes W, Marshall L, Nathrath M, Pander HJ, Brugieres L, Beilken A, Rueda D, Santibanez-Koref M, Gallon R, Jones KJ, Zschocke J, Borthwick GM, Florkin B, Zimmermann SY, Jackson MS, Jessop E, Baris Feldman H, Suerink M, Azizi AA, Demirsoy U, Ryan NAJ, Guerrini-Rousseau L, Colas C, Sehested A   +46 more
core   +4 more sources

Colorectal Carcinoma in Childhood and Adolescence: Microsatellite Instability Correlates With a Favorable Prognosis

Pediatric Blood &Cancer, Volume 72, Issue 8, August 2025.
ABSTRACT Background Colorectal cancer (CRC) accounts for 10% of cancer cases worldwide; however, pediatric CRC is extremely rare, with an annual incidence of one to two cases per million. Microsatellite instability (MSI) has been shown to play a relevant prognostic role in adult CRC. Corresponding data for pediatric CRC are lacking. This study examines
Hannah Wild, Alexandra Liebmann, Lucas Maennel, Linda Maschke, Andreas Block, Leo Kager, Udo Kontny, Abbas Agaimy, Michaela Kuhlen, Antje Redlich, Andreas Schmidt, Jörg Fuchs, Dominik T. Schneider, Ines B. Brecht, Michael Abele   +14 more
wiley   +1 more source

A Rare Case of Four Primary Tumors in a Patient With Lynch Syndrome

Clinical Case Reports, Volume 13, Issue 6, June 2025.
ABSTRACT This case emphasizes the complexity of LS and the need for more comprehensive surveillance strategies, particularly in those with MPTs, to enable early detection and improve management.
Mostafa Kamandi, Negin Layegh, Hamideh Feiz Disfani   +2 more
wiley   +1 more source

Characterizing mutations associated with constitutional mismatch repair deficiency syndrome (CMMRD) in Saccharomyces cerevisiae

, 2016
DNA mismatch repair (MMR) is a highly conserved mechanism that is critical for the preservation of genome integrity. Constitutional mismatch repair deficiency syndrome (CMMRD) is a recessively-inherited childhood cancer predisposition disease caused by ...
Tsai, Stephanie
core  

Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis? [PDF]

, 2017
Constitutional mismatch repair deficiency (CMMRD) is a rare, recessively inherited childhood cancer predisposition syndrome caused by biallelic germline mutations in one of the mismatch repair genes.
Broeke, S.W. ten, M. Suerink, S.W. ten Broeke, K. Wimmer, M. Nielsen, Potjer, T.P., Versluijs, A. B., Potjer, Thomas P., Tops, Carli M., Tops, C.M., Wimmer, K., Suerink, M., Ten Broeke, Sanne W., T.P. Potjer, Nielsen, M., C.M. Tops, Suerink, Manon, A.B. Versluijs, Versluijs, A.B.   +18 more
core   +1 more source

Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency

, 2022
Heterozygous POLE or POLD1 germline pathogenic variants (PVs) cause polymerase proofreading associated polyposis (PPAP), a constitutional polymerase proofreading deficiency that typically presents with colorectal adenomas and carcinomas in adulthood ...
Sarosiek, Tomasz, Melchior, Linea C., Munch-Petersen, Helga Fibiger, Gottschling, Hendrik, Zschocke, Johannes, Scheie, David, Gallon, Richard, Wimmer, Katharina, Misiakou, Maria Anna, Schmuth, Matthias, Pai, Reetesh K., Sehested, Astrid, Bertelsen, Birgitte, Kessler, Elena, Meade, Julia, Østrup, Olga   +15 more
core   +1 more source

Precision immuno-oncology approach for four malignant tumors in siblings with constitutional mismatch repair deficiency syndrome

npj Precision Oncology
Constitutional mismatch repair deficiency (CMMRD) is a rare syndrome characterized by an increased incidence of cancer. It is caused by biallelic germline mutations in one of the four mismatch repair genes (MMR) genes: MLH1, MSH2, MSH6, or PMS2. Accurate
Hana Palova, Anirban Das, Petra Pokorna, Viera Bajciova, Zdenek Pavelka, Marta Jezova, Karol Pal, Jose R. Dimayacyac, Logine Negm, Lucie Stengs, Vanessa Bianchi, Klara Vejmelkova, Kristyna Noskova, Marie Jarosova, Sona Mejstrikova, Peter Mudry, Michal Kyr, Tomas Merta, Pavel Tinka, Klara Drabova, Stefania Aulicka, Robin Jugas, Uri Tabori, Ondrej Slaby, Jaroslav Sterba   +24 more
doaj   +1 more source

Revisiting the Role of Immunotherapy for Colorectal Cancer Treatment in Patients with Constitutional Mismatch Repair Deficiency

, 2022
Patients with constitutional mismatch repair deficiency syndrome (CMMRD) usually develop multiple tumors at a young age. Chemotherapy was previously shown to be less effective in these tumors.
Dirk J Grünhagen, Wagner, Anja; id_orcid, Ellis L Eikenboom, Erna M C Michiels, Marianne de Vries, Grünhagen, Dirk J; id_orcid, Anja Wagner, de Vries, Marianne, Michiels, Erna M C, Wagner, Anja, Spaander, Manon CW, Eikenboom, Ellis L, Grünhagen, Dirk J, Manon CW Spaander   +13 more
core   +1 more source