Detecting mosaic variants in patients with somatic overgrowth syndromes using cell-free circulating DNA and deep sequencing

J Med Genet. 2020 Nov;57(11):794-796. doi: 10.1136/jmedgenet-2019-106732. Epub 2020 Jan 28.

Authors

Wei Shen^{1

2}, Josue Flores-Daboub³, Dave Viskochil³, Sarah L Dugan³, Hunter D Best^{4

2

3}, Rong Mao^{4

2}

Affiliations

¹ Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA shen.wei@mayo.edu.
² ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, ARUP Laboratories, Salt Lake City, Utah, USA.
³ Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
⁴ Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA.

PMID: 31992579
DOI: 10.1136/jmedgenet-2019-106732

No abstract available

Keywords: diagnostics tests; molecular genetics.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell-Free Nucleic Acids / blood
Cell-Free Nucleic Acids / genetics
Child
Child, Preschool
Class I Phosphatidylinositol 3-Kinases / blood
Class I Phosphatidylinositol 3-Kinases / genetics*
Female
GTP-Binding Protein alpha Subunits / blood
GTP-Binding Protein alpha Subunits / genetics*
Genetic Predisposition to Disease
Genetic Variation / genetics
High-Throughput Nucleotide Sequencing
Humans
MAP Kinase Kinase 1 / blood
MAP Kinase Kinase 1 / genetics*
Male
Mosaicism*
Mutation / genetics
Proto-Oncogene Proteins p21(ras) / blood
Proto-Oncogene Proteins p21(ras) / genetics*

Substances

Cell-Free Nucleic Acids
GNA11 protein, human
GTP-Binding Protein alpha Subunits
KRAS protein, human
Class I Phosphatidylinositol 3-Kinases
PIK3CA protein, human
MAP Kinase Kinase 1
MAP2K1 protein, human
Proto-Oncogene Proteins p21(ras)