Results 21 to 30 of about 29,309 (251)

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

Irinotecan and mismatch repair deficiency

Annals of Oncology, 2010
e read the recent publications of Ychou et al. [1, 2] on ‘adjuvant’ irinotecan-based chemotherapy in high-risk localized colorectal cancer (CRC) and after resection of liver-confined metastatic disease with great interest. In contrast to the improved outcome provided by oxaliplatin-based adjuvant treatment of early-stage disease, there is now a body of
Power, D G, Feilchenfeldt, J
openaire   +4 more sources

Genetic Characteristics of Mismatch Repair-deficient Glioblastoma

NMC Case Report Journal, 2021
Mismatch repair (MMR) gene deficiency is rarely observed in gliomas, a constitutional defect is associated with tumorigenesis in Lynch syndrome, and an acquired defect is associated with hypermutation after temozolomide treatment. However, the meaning of MMR gene deficiency in gliomas is unclear.
KAWAGUCHI, Kei, OTANI, Ryohei, KIKUCHI, Miyu, KUSHIHARA, Yoshihiro, FUNATA, Nobuaki, YAMADA, Ryoji, SHINOURA, Nobusada   +6 more
openaire   +3 more sources

Mismatch repair deficiency/microsatellite instability-high as a predictor for anti-PD-1/PD-L1 immunotherapy efficacy

Journal of Hematology & Oncology, 2019
Immunotherapies have led to substantial changes in cancer treatment and have been a persistently popular topic in cancer research because they tremendously improve the efficacy of treatment and survival of individuals with various cancer types.
Pengfei Zhao, Li Li, Xiaoyue Jiang, Qin Li   +3 more
doaj   +1 more source

Association of clinicopathological features with DNA mismatch repair status among colorectal cancer patients presenting to a Tertiary Care Cancer Hospital

International Journal of Advanced Medical and Health Research, 2022
Background: About 12%–15% of sporadic colorectal cancers (CRCs) display a defect in the DNA mismatch repair (MMR) system resulting in microsatellite instability (MSI).
Gayathri G Nair, Vijayalakshmi Nair, Usha Mary Abraham   +2 more
doaj   +1 more source

Frequency of mismatch repair deficiency in pancreatic ductal adenocarcinoma [PDF]

Pathology - Research and Practice, 2020
Pancreatic ductal adenocarcinoma (PDAC) has an ominous prognosis and there are only few treatment options. It is therefore crucial to investigate possible predictive markers that may improve the treatment of this disease. Mismatch repair (MMR) deficiency (d-MMR), meaning MMR protein loss (l-MMR) and/or microsatellite instability (MSI), is predictive of
Ahmad-Nielsen, Soz Abdulrahman, Nielsen, Michael Friberg Bruun, Mortensen, Michael Bau, Detlefsen, Sönke   +3 more
openaire   +3 more sources

Explosive mutation accumulation triggered by heterozygous human Pol ε proofreading-deficiency is driven by suppression of mismatch repair

eLife, 2018
Tumors defective for DNA polymerase (Pol) ε proofreading have the highest tumor mutation burden identified. A major unanswered question is whether loss of Pol ε proofreading by itself is sufficient to drive this mutagenesis, or whether additional factors
Karl P Hodel, Richard de Borja, Erin E Henninger, Brittany B Campbell, Nathan Ungerleider, Nicholas Light, Tong Wu, Kimberly G LeCompte, A Yasemin Goksenin, Bruce A Bunnell, Uri Tabori, Adam Shlien, Zachary F Pursell   +12 more
doaj   +1 more source

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

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

PPARδ status and mismatch repair mediated neoplasia in the mouse intestine

BMC Cancer, 2006
Background Therapeutic regulation of PPARδ activity using selective agonists has been proposed for various disorders. However, the consequences of altered peroxisome proliferator-activated receptor delta (PPARδ) activity in the context of intestinal ...
Peters Jeffrey M, Gescher Andreas J, Hayes Anthony J, Sansom Owen J, Reed Karen R, Clarke Alan R   +5 more
doaj   +1 more source