Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders

To avoid acquired variants found in the blood, cultured skin fibroblasts are a recommended DNA source for germline genetic testing in patients with hematologic disorders, but data are lacking regarding practicality and limitations. We conducted a retrospective cohort study of 350 subjects with hemat...

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Veröffentlicht in:Human mutation 2022-07, Vol.43 (7), p.950-962
Hauptverfasser: DeRoin, Lia, Cavalcante de Andrade Silva, Marcela, Petras, Kristin, Arndt, Kelly, Phillips, Nathaniel, Wanjari, Pankhuri, Subramanian, Hari Prasanna, Montes, David, McElherne, James, Theissen, Megan, Briese, Renee, Das, Soma, Godley, Lucy A., Segal, Jeremy, Gaudio, Daniela, Fitzpatrick, Carrie, Churpek, Jane E.
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Sprache:eng
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Zusammenfassung:To avoid acquired variants found in the blood, cultured skin fibroblasts are a recommended DNA source for germline genetic testing in patients with hematologic disorders, but data are lacking regarding practicality and limitations. We conducted a retrospective cohort study of 350 subjects with hematologic disorders who underwent skin fibroblast culture for germline genetic testing. We analyzed next‐generation sequencing data from the targeted capture of 144 inherited cancer and bonemarrow failure genes to identify variants at heterozygous and subclonal variant allele frequencies. Sixteen (5%) biopsies failed to culture. Culture failure was more likely in samples with delays in culture initiation (OR = 4.3; p 
ISSN:1059-7794
1098-1004
1098-1004
DOI:10.1002/humu.24374