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Constitutional mismatch repair deficiency syndrome
https://medlineplus.gov/genetics/condition/constitutional-mismatch-repair-deficiency-syndrome/
WebConstitutional mismatch repair deficiency (CMMRD) syndrome is a rare disorder that greatly increases the risk of developing one or more types of cancer in children and young adults. Explore symptoms, inheritance, genetics of this condition.
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Constitutional Mismatch Repair Deficiency Syndrome (CMMRD)
https://www.stjude.org/disease/constitutional-mismatch-repair-deficiency.html
WebConstitutional mismatch repair deficiency syndrome is a rare condition that increases the risk for developing brain tumors, cancers in blood and lymph systems, polyps and cancers in the gastrointestinal tract, certain skin or physical findings, and other rare pediatric cancers.
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Survival Benefit for Individuals With Constitutional Mismatch Repair …
https://ascopubs.org/doi/10.1200/JCO.20.02636
WebMay 4, 2021 · Constitutional mismatch repair deficiency syndrome (CMMRD) is a lethal cancer predisposition syndrome characterized by early-onset synchronous and metachronous multiorgan tumors. We designed a surveillance protocol for early tumor detection in these individuals. Patients and Methods.
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Constitutional mismatch repair-deficiency: current problems and
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6226037/
WebOct 10, 2018 · This leads to a syndrome with recessive inheritance, referred to as constitutional mismatch repair-deficiency (CMMRD). CMMRD is a rare childhood cancer predisposition syndrome. The spectrum of CMMRD tumours is broad and CMMRD-patients possess a high risk of multiple cancers including hematological, brain and intestinal tumors.
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Diagnostic criteria for constitutional mismatch repair deficiency
https://pubmed.ncbi.nlm.nih.gov/24737826/
WebAbstract. 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. The tumour spectrum is very broad, including mainly haematological, brain and intestinal tract tumours.
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Clinical and biological landscape of constitutional ... - The Lancet
https://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(24)00026-3/fulltext
Web2 days ago · Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare and aggressive cancer predisposition syndrome. Because a scarcity of data on this condition contributes to management challenges and poor outcomes, we aimed to describe the clinical spectrum, cancer biology, and impact of genetics on patient survival in CMMRD.
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Constitutional mismatch repair deficiency syndrome
https://medlineplus.gov/download/genetics/condition/constitutional-mismatch-repair-deficiency-syndrome.pdf
WebApr 1, 2020 · CMMRD syndrome is a rare disorder; more than 200 affected individuals have been reported in the scientific literature. Causes. Mutations in the PMS2 gene are the most common cause of CMMRD syndrome, and mutations in the MLH1, MSH2, or MSH6 gene cause the remaining cases.
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The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency …
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8124255/
WebApr 28, 2021 · Introduction. Constitutional mismatch repair deficiency syndrome (CMMRD, MIM No. 276300) is caused by biallelic germline mutations in mismatch repair (MMR) system genes [ 1, 2 ]. PMS2 is the most frequently mutated gene accounting for 60% of CMMRD cases. The remaining 40% are due to MSH6 (20–30%), MLH1 and MSH2 (10–20%) …
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Functional Repair Assay for the Diagnosis of Constitutional …
https://ascopubs.org/doi/10.1200/JCO.18.00474
WebJan 4, 2019 · PDF. Abstract. Purpose. Constitutional mismatch repair deficiency (CMMRD) is a highly penetrant cancer predisposition syndrome caused by biallelic mutations in mismatch repair (MMR) genes. As several cancer syndromes are clinically similar, accurate diagnosis is critical to cancer screening and treatment.
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Diagnostic criteria for constitutional mismatch repair deficiency
https://jmg.bmj.com/content/59/4/318
WebBackground Constitutional mismatch repair deficiency syndrome (CMMRD) is the most aggressive cancer predisposition syndrome associated with multiorgan cancers, often presenting in childhood. There is variability in age and presentation of cancers and benign manifestations mimicking neurofibromatosis type 1.
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