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10.1038/s41467-025-57077-1 http://scihub22266oqcxt.onion/10.1038/s41467-025-57077-1 C11962086!11962086!40169570     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=40169570&cmd=llinks): Failed to open stream: HTTP request failed! 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A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations |pdf=|usr=}}{{40169570}} gab.com Text A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations JO: Nat Commun http://www.kidney.de/pget.php?&tw=1&pmid=40169570 #FOAvip Loss of function variants in the NF1 gene cause neurofibromatosis type 1, a genetic disorder characterized by complete penetrance, characteristic physical exam findings, and a substantially increased risk for malignancy. However, our understanding of the disorder is based on patients ascertained through phenotype-first approaches, which estimate prevalence at 1 in 3000. Leveraging a genotype-first approach in multiple large patient cohorts including over one million individuals, we demonstrate an unexpectedly high prevalence (1 in 1,286) of NF1 pathogenic variants. Half are identified in individuals lacking clinical features of NF1, with many appearing to have post-zygotic mosaicism for the identified variant. Incidentally discovered variants are not associated with classic neurofibromatosis features but are associated with an increased incidence of malignancy compared to control populations. Our findings suggest that NF1 pathogenic variants are substantially more common than previously thought, often characterized by somatic mosaicism and reduced penetrance, and are important contributors to cancer risk in the general population. Twit Text FOAVip A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations ????Nat Commun http://www.kidney.de/pget.php?&tw=1&pmid=40169570 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=40169570 #FOAvip English Wikipedia <ref>{{Cite pmid|40169570}}</ref> A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations #MMPMID40169570 Safonov A; Nomakuchi TT; Chao E; Horton C; Dolinsky JS; Yussuf A; Richardson M; Speare V; Li S; Bogus ZC; Bonanni M; Raper A; Odia T; Wubbenhorst BS; Faulders E; Schuth EM; Loranger K; Zhang J; Scalise CB; ElNaggar A; Sha Y; Felker SA; Weitzel J; Kallish S; Ritchie MD; Nathanson KL; Drivas TG Nat Commun 2025[]; 16 (�): � PMID40169570show ga Loss of function variants in the NF1 gene cause neurofibromatosis type 1, a genetic disorder characterized by complete penetrance, characteristic physical exam findings, and a substantially increased risk for malignancy. However, our understanding of the disorder is based on patients ascertained through phenotype-first approaches, which estimate prevalence at 1 in 3000. Leveraging a genotype-first approach in multiple large patient cohorts including over one million individuals, we demonstrate an unexpectedly high prevalence (1 in 1,286) of NF1 pathogenic variants. Half are identified in individuals lacking clinical features of NF1, with many appearing to have post-zygotic mosaicism for the identified variant. Incidentally discovered variants are not associated with classic neurofibromatosis features but are associated with an increased incidence of malignancy compared to control populations. Our findings suggest that NF1 pathogenic variants are substantially more common than previously thought, often characterized by somatic mosaicism and reduced penetrance, and are important contributors to cancer risk in the general population. �A genotype-first approach identifies high incidence of NF1 pathogenic (epmc).pdf DeepDyve Pubget Overpricing