FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2010480908> ?p ?o ?g. }

• W2010480908 endingPage "996" @default.
• W2010480908 startingPage "987" @default.
• W2010480908 abstract "Background Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which data regarding clinical manifestations, molecular screening tools and management are limited. Methods We established an international CMMRD consortium and collected comprehensive clinical and genetic data. Molecular diagnosis of tumour and germline biospecimens was performed. A surveillance protocol was developed and implemented. Results Overall, 22/23 (96%) of children with CMMRD developed 40 different tumours. While childhood CMMRD related tumours were observed in all families, Lynch related tumours in adults were observed in only 2/14 families (p = 0.0007). All children with CMMRD had café-au-lait spots and 11/14 came from consanguineous families. Brain tumours were the most common cancers reported (48%) followed by gastrointestinal (32%) and haematological malignancies (15%). Importantly, 12 (30%) of these were low grade and resectable cancers. Tumour immunohistochemistry was 100% sensitive and specific in diagnosing mismatch repair (MMR) deficiency of the corresponding gene while microsatellite instability was neither sensitive nor specific as a diagnostic tool (p < 0.0001). Furthermore, screening of normal tissue by immunohistochemistry correlated with genetic confirmation of CMMRD. The surveillance protocol detected 39 lesions which included asymptomatic malignant gliomas and gastrointestinal carcinomas. All tumours were amenable to complete resection and all patients undergoing surveillance are alive. Discussion CMMRD is a highly penetrant syndrome where family history of cancer may not be contributory. Screening tumours and normal tissues using immunohistochemistry for abnormal expression of MMR gene products may help in diagnosis and early implementation of surveillance for these children." @default.
• W2010480908 created "2016-06-24" @default.
• W2010480908 creator A5005366116 @default.
• W2010480908 creator A5010939758 @default.
• W2010480908 creator A5012665304 @default.
• W2010480908 creator A5016377624 @default.
• W2010480908 creator A5020598956 @default.
• W2010480908 creator A5029581895 @default.
• W2010480908 creator A5033045382 @default.
• W2010480908 creator A5036580368 @default.
• W2010480908 creator A5038359017 @default.
• W2010480908 creator A5046351275 @default.
• W2010480908 creator A5048594199 @default.
• W2010480908 creator A5048823551 @default.
• W2010480908 creator A5051192678 @default.
• W2010480908 creator A5059921916 @default.
• W2010480908 creator A5068257880 @default.
• W2010480908 creator A5068881416 @default.
• W2010480908 creator A5069614140 @default.
• W2010480908 creator A5074521489 @default.
• W2010480908 creator A5075401861 @default.
• W2010480908 creator A5078418332 @default.
• W2010480908 creator A5079656701 @default.
• W2010480908 creator A5090452550 @default.
• W2010480908 creator A5091639540 @default.
• W2010480908 date "2014-03-01" @default.
• W2010480908 modified "2023-09-30" @default.
• W2010480908 title "Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: Report from the constitutional mismatch repair deficiency consortium" @default.
• W2010480908 cites W1973402550 @default.
• W2010480908 cites W1981639766 @default.
• W2010480908 cites W1993051520 @default.
• W2010480908 cites W1995872547 @default.
• W2010480908 cites W1997652809 @default.
• W2010480908 cites W2001471795 @default.
• W2010480908 cites W2030307336 @default.
• W2010480908 cites W2035826141 @default.
• W2010480908 cites W2037898576 @default.
• W2010480908 cites W2044890596 @default.
• W2010480908 cites W2047041699 @default.
• W2010480908 cites W2054965295 @default.
• W2010480908 cites W2068906373 @default.
• W2010480908 cites W2082715851 @default.
• W2010480908 cites W2095874417 @default.
• W2010480908 cites W2096051237 @default.
• W2010480908 cites W2096371251 @default.
• W2010480908 cites W2124295966 @default.
• W2010480908 cites W2127130871 @default.
• W2010480908 cites W2127590767 @default.
• W2010480908 cites W2153459501 @default.
• W2010480908 cites W2156291872 @default.
• W2010480908 cites W4251682413 @default.
• W2010480908 doi "https://doi.org/10.1016/j.ejca.2013.12.005" @default.
• W2010480908 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24440087" @default.
• W2010480908 hasPublicationYear "2014" @default.
• W2010480908 type Work @default.
• W2010480908 sameAs 2010480908 @default.
• W2010480908 citedByCount "173" @default.
• W2010480908 countsByYear W20104809082014 @default.
• W2010480908 countsByYear W20104809082015 @default.
• W2010480908 countsByYear W20104809082016 @default.
• W2010480908 countsByYear W20104809082017 @default.
• W2010480908 countsByYear W20104809082018 @default.
• W2010480908 countsByYear W20104809082019 @default.
• W2010480908 countsByYear W20104809082020 @default.
• W2010480908 countsByYear W20104809082021 @default.
• W2010480908 countsByYear W20104809082022 @default.
• W2010480908 countsByYear W20104809082023 @default.
• W2010480908 crossrefType "journal-article" @default.
• W2010480908 hasAuthorship W2010480908A5005366116 @default.
• W2010480908 hasAuthorship W2010480908A5010939758 @default.
• W2010480908 hasAuthorship W2010480908A5012665304 @default.
• W2010480908 hasAuthorship W2010480908A5016377624 @default.
• W2010480908 hasAuthorship W2010480908A5020598956 @default.
• W2010480908 hasAuthorship W2010480908A5029581895 @default.
• W2010480908 hasAuthorship W2010480908A5033045382 @default.
• W2010480908 hasAuthorship W2010480908A5036580368 @default.
• W2010480908 hasAuthorship W2010480908A5038359017 @default.
• W2010480908 hasAuthorship W2010480908A5046351275 @default.
• W2010480908 hasAuthorship W2010480908A5048594199 @default.
• W2010480908 hasAuthorship W2010480908A5048823551 @default.
• W2010480908 hasAuthorship W2010480908A5051192678 @default.
• W2010480908 hasAuthorship W2010480908A5059921916 @default.
• W2010480908 hasAuthorship W2010480908A5068257880 @default.
• W2010480908 hasAuthorship W2010480908A5068881416 @default.
• W2010480908 hasAuthorship W2010480908A5069614140 @default.
• W2010480908 hasAuthorship W2010480908A5074521489 @default.
• W2010480908 hasAuthorship W2010480908A5075401861 @default.
• W2010480908 hasAuthorship W2010480908A5078418332 @default.
• W2010480908 hasAuthorship W2010480908A5079656701 @default.
• W2010480908 hasAuthorship W2010480908A5090452550 @default.
• W2010480908 hasAuthorship W2010480908A5091639540 @default.
• W2010480908 hasConcept C104317684 @default.
• W2010480908 hasConcept C121608353 @default.
• W2010480908 hasConcept C126322002 @default.
• W2010480908 hasConcept C13514818 @default.
• W2010480908 hasConcept C137916694 @default.
• W2010480908 hasConcept C143998085 @default.
• W2010480908 hasConcept C180754005 @default.

• next