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
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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;
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?
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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
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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
Assessment of mismatch repair deficiency in ovarian cancer
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2020-107270
Abstract: Background Hereditary causes of ovarian cancer include Lynch syndrome, which is due to inherited pathogenic variants affecting one of the four mismatch repair genes involved in DNA repair. The aim of this study was to… read more here.
Keywords: repair deficiency; ovarian cancer; mismatch repair; lynch syndrome ... See more keywords
High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-108829
Abstract: Background Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessively inherited syndrome that is caused by biallelic pathogenic variants of the mismatch repair genes. It is characterised by the development of multiple tumours in… read more here.
Keywords: constitutional mismatch; repair deficiency; mismatch repair; surveillance ... See more keywords