Ongoing issues with the management of children with Constitutional Mismatch Repair Deficiency syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2019.103706
Abstract: Constitutional Mismatch Repair Deficiency (CMMRD) is a rare cancer predisposition syndrome, presenting in childhood, in which affected patients develop various malignancies such as hematological, gastrointestinal and central nervous system tumors. Although guidelines are being increasingly… read more here.
Keywords: mismatch repair; constitutional mismatch; repair deficiency;
Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD)
Sign Up to like & getrecommendations! Published in 2018 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-018-0197-0
Abstract: 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). This syndrome results in early onset colorectal cancer, leukemia… read more here.
Keywords: cancer; mismatch repair; constitutional mismatch; repair deficiency ... See more keywords
The therapeutic significance of mutational signatures from DNA repair deficiency in cancer
Sign Up to like & getrecommendations! Published in 2018 at "Nature Communications"
DOI: 10.1038/s41467-018-05228-y
Abstract: Cancer is fundamentally a disease of the genome and inherited deficiencies in DNA repair pathways are well established to increase lifetime cancer risk. Computational analysis of pan-cancer data has identified signatures of mutational processes thought… read more here.
Keywords: cancer; dna repair; repair deficiency;
Biallelic Mismatch Repair Deficiency in Children and Adolescents: A Review of Published and Unpublished Data from India—Need for an Indian Consortium
Sign Up to like & getrecommendations! Published in 2024 at "Indian Journal of Medical and Paediatric Oncology"
DOI: 10.1055/s-0044-1790202
Abstract: Abstract Introduction Biallelic mismatch repair deficiency or constitutional mismatch repair deficiency (CMMRD) is a rare and aggressive pediatric cancer predisposition syndrome that occurs as a result of homozygous (biallelic) pathogenic variants in mismatch repair genes.… read more here.
Keywords: cmmrd; mismatch repair; repair deficiency;
Utility of Discordant Mismatch Repair-Deficiency (MMR)/Microsatellite Instability (MSI) Testing in Screening Uterine Leiomyosarcoma Patient for Lynch/Other Familial Cancer Syndromes
Sign Up to like & getrecommendations! Published in 2020 at "American Journal of Clinical Pathology"
DOI: 10.1093/ajcp/aqaa161.326
Abstract: Lynch Syndrome (LS) is primarily linked to colorectal and endometrial cancers. Occasional sarcomas, including leiomyosarcoma, have been recognized within the spectrum of LS demonstrating mismatch repair-deficiency (MMR)/microsatellite instability (MSI) in this context. A 67-year-old female… read more here.
Keywords: mmr microsatellite; deficiency mmr; repair deficiency; leiomyosarcoma ... See more keywords
IMMU-01. DURABLE RESPONSE TO NIVOLUMAB IN A PEDIATRIC PATIENT WITH REFRACTORY GLIOBLASTOMA AND CONSTITUTIONAL BIALLELIC MISMATCH REPAIR DEFICIENCY
Sign Up to like & getrecommendations! Published in 2018 at "Neuro-oncology"
DOI: 10.1093/neuonc/noy059.317
Abstract: Constitutional biallelic mismatch repair deficiency CMMR-D is a rare childhood cancer predisposition syndrome. Detection of CMMR-D in pediatric HGG is crucial and can improve patient outcome due to the fact that CMMR-D is responsive to… read more here.
Keywords: constitutional biallelic; mismatch repair; biallelic mismatch; repair deficiency ... See more keywords
Prolonged benefit to pembrolizumab in anaplastic oligodendroglioma patient with mismatch repair deficiency: a case report.
Sign Up to like & getrecommendations! Published in 2020 at "Anti-Cancer Drugs"
DOI: 10.1097/cad.0000000000001011
Abstract: High-grade gliomas, including anaplastic oligodendroglioma, represent the most common malignant neoplasms of the central nervous system in the adult. The standard treatment of anaplastic oligodendroglioma consists of maximum surgical resection, radiotherapy and subsequent chemotherapy. Despite… read more here.
Keywords: mismatch repair; oligodendroglioma; anaplastic oligodendroglioma; repair deficiency ... See more keywords
Constitutional Mismatch Repair Deficiency Syndromes, a Neurofibromatosis 1 Mimicker That Hinders Timely Management.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of pediatric hematology/oncology"
DOI: 10.1097/mph.0000000000002641
Abstract: BACKGROUND Constitutional mismatch repair deficiency (CMMRD) is a rare, autosomal recessive disease caused by a biallelic germline mutation in one of the DNA mismatch repair genes (MLH1, MSH2, MSH6, and PMS2). In addition to the… read more here.
Keywords: constitutional mismatch; mismatch; repair deficiency; mismatch repair ... See more keywords
Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Genetics"
DOI: 10.1111/cge.13053
Abstract: 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. The CMMRD phenotype overlaps with that of neurofibromatosis type… read more here.
Keywords: mismatch repair; constitutional mismatch; mismatch; repair deficiency ... See more keywords
Evolutionary patterns of chromosomal instability and mismatch repair deficiency in proximal and distal colorectal cancer
Sign Up to like & getrecommendations! Published in 2021 at "Colorectal Disease"
DOI: 10.1111/codi.15946
Abstract: Colorectal carcinomas (CRCs) progress through heterogeneous pathways. The aim of this study was to analyse whether or not the cytogenetic evolution of CRC is linked to tumour site, level of chromosomal imbalance and metastasis. read more here.
Keywords: instability mismatch; repair deficiency; patterns chromosomal; evolutionary patterns ... See more keywords
Constitutional Mismatch Repair Deficiency: Scoping Review of a Cancer‐Predisposition Syndrome With Distinctive Cutaneous Findings
Sign Up to like & getrecommendations! Published in 2025 at "Pediatric Dermatology"
DOI: 10.1111/pde.15878
Abstract: Constitutional mismatch repair deficiency (CMMRD) is a rare but severe hereditary cancer predisposition syndrome caused by biallelic pathogenic variants in one of the mismatch repair genes (MLH1, MSH2, MSH6, or PMS2). The condition mainly presents… read more here.
Keywords: mismatch; cancer; mismatch repair; repair deficiency ... See more keywords