FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4242912111> ?p ?o ?g. }

• W4242912111 abstract "Abstract Background: Germline RET mutations and variants are involved in development of multiple endocrine neoplasia type 2 (MEN2). The present study investigated a spectrum of RET variants, analyzed genotype-phenotype relationships, and evaluated their effect on the MEN2 phenotype in Han Chinese patients. Methods: Targeted sequencing detected germline RET variants in 697 individuals, including 245 MEN2, 120 sporadic medullary thyroid cancer (MTC), and 15 pheochromocytoma (PHEO) patients and their 493 relatives. In silico analyses and classifications following ACMG-2015 were performed. Demographic, clinical variant types, and endocrine neoplasia molecular diagnosis records were also analyzed. Results: Nineteen different RET mutations (18 point and 1 del/ins mutations) in 214 patients with MEN2A (97.7%) or MEN2B (2.3%) were found, of which exon 11/10 mutations accounted for 79% (169/214). Nineteen compound mutations were found in 31 patients with MEN2A. Twenty-three variants (18 single and 5 double base substitution/compound variants) non-classification were also found. Of these, 17 ( 3 of pathogenic, 10 of uncertain significance, 2 of likely benign and 2 as benign) were found in 31 patients with MTC/PHEO. The remaining 6 variants (4 of uncertain significance and 2 of likely benign) found in 8 carriers had no evidence of MEN2. The entire cohort showed MEN2A-related PHEO, all occurring in exons 11/10, particularly at C634. Kaplan-Meier curves showed age-dependent penetration rates of MTC and PHEO, and occurrence rates of PHEO in patients with exon 11 mutations were all higher than those within exon 10; these bilateral PHEO were always associated with exon 11 mutations (all P < 0.05). While patient offspring had PHEO, parents with MEN2A had none, the frequency was approximately 10%. Interestingly, at least 6.8% of families were adoptive. Also, 3 non-hotspot RET variants (R114H, T278N, and D489N) appeared with high frequency. Conversely, polymorphism S836S was absent. Conclusions: These data are largely consistent with current evidence-based recommendations in the clinical practice guidelines. Diversity of RET variants or carriers may involve a different natural disease course. Further large-scale targeted sequencing studies will serve as an accurate and cost-effective approach to investigating MEN2 genotype-phenotype correlations for discovery of rare or unknown variants of RET ." @default.
• W4242912111 created "2022-05-12" @default.
• W4242912111 creator A5008372988 @default.
• W4242912111 creator A5018637940 @default.
• W4242912111 creator A5022065446 @default.
• W4242912111 creator A5044991530 @default.
• W4242912111 creator A5052676364 @default.
• W4242912111 creator A5056924576 @default.
• W4242912111 creator A5065767327 @default.
• W4242912111 creator A5074986594 @default.
• W4242912111 creator A5081844561 @default.
• W4242912111 creator A5088350474 @default.
• W4242912111 date "2021-05-18" @default.
• W4242912111 modified "2023-09-25" @default.
• W4242912111 title "Spectrum of Germline RET Variants Identified by Targeted Sequencing and Associated Multiple Endocrine Neoplasia Type 2 Susceptibility in China" @default.
• W4242912111 doi "https://doi.org/10.21203/rs.3.rs-531062/v1" @default.
• W4242912111 hasPublicationYear "2021" @default.
• W4242912111 type Work @default.
• W4242912111 citedByCount "0" @default.
• W4242912111 crossrefType "posted-content" @default.
• W4242912111 hasAuthorship W4242912111A5008372988 @default.
• W4242912111 hasAuthorship W4242912111A5018637940 @default.
• W4242912111 hasAuthorship W4242912111A5022065446 @default.
• W4242912111 hasAuthorship W4242912111A5044991530 @default.
• W4242912111 hasAuthorship W4242912111A5052676364 @default.
• W4242912111 hasAuthorship W4242912111A5056924576 @default.
• W4242912111 hasAuthorship W4242912111A5065767327 @default.
• W4242912111 hasAuthorship W4242912111A5074986594 @default.
• W4242912111 hasAuthorship W4242912111A5081844561 @default.
• W4242912111 hasAuthorship W4242912111A5088350474 @default.
• W4242912111 hasBestOaLocation W42429121111 @default.
• W4242912111 hasConcept C104317684 @default.
• W4242912111 hasConcept C109825262 @default.
• W4242912111 hasConcept C121608353 @default.
• W4242912111 hasConcept C126322002 @default.
• W4242912111 hasConcept C13514818 @default.
• W4242912111 hasConcept C142724271 @default.
• W4242912111 hasConcept C143998085 @default.
• W4242912111 hasConcept C2776512331 @default.
• W4242912111 hasConcept C2776734335 @default.
• W4242912111 hasConcept C2779512018 @default.
• W4242912111 hasConcept C2779761222 @default.
• W4242912111 hasConcept C2780103800 @default.
• W4242912111 hasConcept C2780120053 @default.
• W4242912111 hasConcept C36823959 @default.
• W4242912111 hasConcept C501734568 @default.
• W4242912111 hasConcept C502942594 @default.
• W4242912111 hasConcept C54355233 @default.
• W4242912111 hasConcept C71924100 @default.
• W4242912111 hasConcept C76818968 @default.
• W4242912111 hasConcept C86803240 @default.
• W4242912111 hasConceptScore W4242912111C104317684 @default.
• W4242912111 hasConceptScore W4242912111C109825262 @default.
• W4242912111 hasConceptScore W4242912111C121608353 @default.
• W4242912111 hasConceptScore W4242912111C126322002 @default.
• W4242912111 hasConceptScore W4242912111C13514818 @default.
• W4242912111 hasConceptScore W4242912111C142724271 @default.
• W4242912111 hasConceptScore W4242912111C143998085 @default.
• W4242912111 hasConceptScore W4242912111C2776512331 @default.
• W4242912111 hasConceptScore W4242912111C2776734335 @default.
• W4242912111 hasConceptScore W4242912111C2779512018 @default.
• W4242912111 hasConceptScore W4242912111C2779761222 @default.
• W4242912111 hasConceptScore W4242912111C2780103800 @default.
• W4242912111 hasConceptScore W4242912111C2780120053 @default.
• W4242912111 hasConceptScore W4242912111C36823959 @default.
• W4242912111 hasConceptScore W4242912111C501734568 @default.
• W4242912111 hasConceptScore W4242912111C502942594 @default.
• W4242912111 hasConceptScore W4242912111C54355233 @default.
• W4242912111 hasConceptScore W4242912111C71924100 @default.
• W4242912111 hasConceptScore W4242912111C76818968 @default.
• W4242912111 hasConceptScore W4242912111C86803240 @default.
• W4242912111 hasLocation W42429121111 @default.
• W4242912111 hasLocation W42429121112 @default.
• W4242912111 hasOpenAccess W4242912111 @default.
• W4242912111 hasPrimaryLocation W42429121111 @default.
• W4242912111 hasRelatedWork W1977621369 @default.
• W4242912111 hasRelatedWork W2065606465 @default.
• W4242912111 hasRelatedWork W2087619652 @default.
• W4242912111 hasRelatedWork W2220205147 @default.
• W4242912111 hasRelatedWork W2681632753 @default.
• W4242912111 hasRelatedWork W2800295931 @default.
• W4242912111 hasRelatedWork W2896002818 @default.
• W4242912111 hasRelatedWork W2996139546 @default.
• W4242912111 hasRelatedWork W3145612464 @default.
• W4242912111 hasRelatedWork W4242912111 @default.
• W4242912111 isParatext "false" @default.
• W4242912111 isRetracted "false" @default.
• W4242912111 workType "article" @default.