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
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
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
Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)
Sign Up to like & getrecommendations! Published in 2017 at "BMC Medical Genetics"
DOI: 10.1186/s12881-017-0391-x
Abstract: BackgroundConstitutional mismatch repair deficiency syndrome results from bi-allelic inheritance of mutations affecting the key DNA mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. Individuals with bi-allelic mutations have a dysfunctional mismatch repair system from birth;… read more here.
Keywords: mismatch repair; constitutional mismatch; repair deficiency; repair ... See more keywords