Results 31 to 40 of about 1,020 (131)
Hematology, Transfusion and Cell Therapy, 2021 Objective: The programmed cell death 1 (PD-1) receptor is an immune checkpoint receptor expressed by activated T cells. PD-1 inhibits the immune system by binding to its ligands expressed on tumor cells.
Veysel GOK +11 more
doaj +1 more source
Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development-a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis [PDF]
, 2021 Constitutional mismatch repair deficiency syndrome (CMMRD) is a rare cancer-predisposition syndrome associated with a high risk of developing a spectrum of malignancies in childhood and adolescence, including brain tumours. In this report, we present the
Merve, A +10 more
core +1 more source
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 +3 more
doaj +1 more source
Cancers / Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum [PDF]
, 2019 Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome, caused by heterozygous mutations in the mismatch repair (MMR) genes.
Schamschula, E. +48 more
core +2 more sources
BMC Gastroenterology, 2021 Background Constitutional mismatch repair deficiency (CMMRD) is an extremely rare autosomal recessive hereditary disease characterized by the absence of mismatch repair gene activity from birth, which results in brain tumors, colonic polyposis ...
Takayuki Ando +13 more
doaj +1 more source
HGG-41. Glioma oncogenesis in the constitutional mismatch repair deficiency (CMMRD) syndrome
, 2022 International audienceAbstract PURPOSE: Constitutional Mismatch Repair Deficiency (CMMRD) is a cancer predisposition due to bi-allelic mutations in one of the four main mismatch repair (MMR) genes (PMS2, MSH2, MSH6 or MLH1) associated with early onset of
Hamzaoui, Nadim +19 more
core +1 more source
Therapeutic HDAC inhibition in hypermutant diffuse intrinsic pontine glioma
Neoplasia: An International Journal for Oncology Research, 2023 Constitutional mismatch repair deficiency (CMMRD) is a cancer predisposition syndrome associated with the development of hypermutant pediatric high-grade glioma, and confers a poor prognosis.
Alyssa Noll +20 more
doaj +1 more source
Constitutional Mismatch Repair Deficiency Syndrome in a patient from India
Clinical Case Reports, 2020 This report highlights an extremely rare genetic condition constitutional mismatch repair deficiency (CMMRD) in an Indian pediatric patient with dual malignancies, who suffered from transient encephalopathy, a rare side effect of the drug Nivolumab and ...
Chandramallika Paul +3 more
doaj +1 more source
Biomolecules, 2022 Colorectal cancer (CRC) in adolescents and young adults (AYA) is very rare. Known predisposition syndromes include Lynch syndrome (LS) due to highly penetrant MLH1 and MSH2 alleles, familial adenomatous polyposis (FAP), constitutional mismatch-repair ...
Esther Schamschula +10 more
doaj +1 more source
Frontiers in Pediatrics, 2023 Molecular screening tools have significantly eased the assessment of potential germline susceptibility factors that may underlie the development of pediatric malignancies.
Triantafyllia Brozou +9 more
doaj +1 more source