Results 111 to 120 of about 1,020 (131)

Genomic features of clonal hematopoiesis-associated genes in primary and CAR T-cell-related secondary T-cell malignancies. [PDF]

Blood Neoplasia
Park JJ, Avigan ZM, Dong MB, Nguyen CV, Guitart J, Kotecha RR, Perica K, Parekh S, Aleman A.   +8 more
europepmc   +1 more source

Report of the sixth meeting of the European Consortium ‘Care for CMMRD’ (C4CMMRD), Paris, France, November 16th 2022 [PDF]

Familial Cancer
Biallelic germline pathogenic variants in one of the four mismatch repair genes (MSH2, MSH6, MLH1 and PMS2) cause a very rare, highly penetrant, childhood-onset cancer syndrome, called constitutional mismatch repair deficiency (CMMRD).
Richard Gallon, Volodia Dangouloff-Ros, Jan Loeffen   +2 more
exaly   +4 more sources

Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD)

European Journal of Human Genetics, 2018
Constitutional MisMatch Repair Deficiency (CMMRD) is caused by homozygous or compound heterozygous germline variants in one of the mismatch repair (MMR) genes (MSH2, MSH6, PMS2, MLH1).
Harm Westdorp, John Burn
exaly   +8 more sources

Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD) [PDF]

Journal of Medical Genetics, 2014
Constitutional mismatch repair deficiency (CMMRD) syndrome is a distinct childhood cancer predisposition syndrome that results from biallelic germline mutations in one of the four MMR genes, MLH1, MSH2, MSH6 or PMS2.
Anne-Marie Gerdes, Katharina Wimmer
exaly   +2 more sources

Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome [PDF]

Cancer Letters, 2017
Contains fulltext : 177367.pdf (Publisher’s version ) (Open Access)Monoallelic germline mutations in one of the DNA mismatch repair (MMR) genes cause Lynch syndrome, with a high lifetime risks of colorectal and endometrial cancer at ...
Gerty Schreibelt, Harm Westdorp, I Jolanda M de Vries   +2 more
exaly   +3 more sources

Using comprehensive genomic and functional analyses for resolving genotype–phenotype mismatches in children with suspected CMMRD in Lebanon: an IRRDC study [PDF]

Human Genetics, 2023
Constitutional mismatch repair deficiency (CMMRD) is an aggressive and highly penetrant cancer predisposition syndrome. Because of its variable clinical presentation and phenotypical overlap with neurofibromatosis, timely diagnosis remains challenging ...
Raya Saab, Anirban Das, Vanessa Bianchi   +2 more
exaly   +2 more sources

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Immune Checkpoint Inhibition as Primary Adjuvant Therapy for an IDH1-Mutant Anaplastic Astrocytoma in a Patient with CMMRD: A Case Report—Usage of Immune Checkpoint Inhibition in CMMRD

Current Oncology, 2021
Anirban Das, Rebekah Rittberg, Namita Sinha   +2 more
exaly  

Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD)

Neuropathology and Applied Neurobiology, 2023
Murray Mj
exaly