Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD). - Test2 - elhamkhani - TriplyDB

Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).

Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).

http://www.wikidata.org/entity/Q38204965

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Cancer predisposition genes: molecular mechanisms and clinical impact on personalized cancer care: examples of Lynch and HBOC syndromes Non-Hodgkin Lymphoma in Children and Adolescents: Progress Through Effective Collaboration, Current Knowledge, and Challenges Ahead Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers Avalanching mutations in biallelic mismatch repair deficiency syndrome A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment Non-infectious chemotherapy-associated acute toxicities during childhood acute lymphoblastic leukemia therapy.The genetic basis of Lynch syndrome and its implications for clinical practice and risk management.Colorectal carcinogenesis--update and perspectives.Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.Microsatellite instability use in mismatch repair gene sequence variant classification Recent developments in brain tumor predisposing syndromes.Hereditary Colorectal Cancer: Genetics and Screening Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)Prevalence of Café-au-Lait Spots in children with solid tumors.A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome.Evolving approach and clinical significance of detecting DNA mismatch repair deficiency in colorectal carcinoma.A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.The mutational profile and infiltration pattern of murine MLH1-/- tumors: concurrences, disparities and cell line establishment for functional analysis.An Unusual Case of Constitutional Mismatch Repair Deficiency Syndrome With Anaplastic Ganglioglioma, Colonic Adenocarcinoma, Osteosarcoma, Acute Myeloid Leukemia, and Signs of Neurofibromatosis Type 1: Case Report.A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency.Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.A new hereditary colorectal cancer network in the Middle East and eastern mediterranean countries to improve care for high-risk families.Germline mutations predisposing to diffuse large B-cell lymphoma.Current status and future directions of T-lymphoblastic lymphoma in children and adolescents.Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.Correspondence on "Neurocutaneous Syndromes and Brain Tumors".Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer.Cancer predisposition syndromes: lessons for truly precision medicine.Primary/Congenital Immunodeficiency: 2015 SH/EAHP Workshop Report-Part 5.Recent advances in the study of immunodeficiency and DNA damage response.High frequency of mismatch repair deficiency among pediatric high grade gliomas in Jordan.PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1.Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency.A rare case of Crohn's ileitis in a patient with constitutional mismatch repair deficiency First reported case of alveolar soft part sarcoma in constitutional mismatch repair deficiency syndrome tumor spectrum - diagnosed in one of the siblings with constitutional mismatch repair deficiency.Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome.Constitutional mismatch repair deficiency syndrome: Do we know it?An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.

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Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).

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JMEDGENET-2014-102284

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Journal of Medical Genetics

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Diagnostic criteria for consti ...... um 'care for CMMRD' (C4CMMRD).

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Alex Duval

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Brigit Burkhardt

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Christian P Kratz

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Chrystelle Colas

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Clara Ruiz-Ponte

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Denisa Ilencikova

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EU-Consortium Care for CMMRD (C4CMMRD)

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Irene Slavc

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Katharina Wimmer

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Laurence Brugieres

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Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability

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Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer

An optimized pentaplex PCR for detecting DNA mismatch repair-deficient colorectal cancers

Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases.

Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2.

Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome.

HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.

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355-365

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10.1136/JMEDGENET-2014-102284

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6

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Anne-Marie Gerdes

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2014-04-15T00:00:00Z

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261745200

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