analyzed the state of neurofibromas in 37 patients with neurofibromatosis type 1 and found somatic mutations
in 7 patients with cutaneous neurofibromas (37%) and in 9 patients with plexiform neurofibroma (50%).
Targeted panels and whole-genome NGS assay detect somatic mutations
in up to 90% of MDS patients (63-65).
Considering the potential evolutionary significance of somatic mutations
in clonal organisms, we aim to assess the pervasiveness of intraorganismal genetic variation in these species and to determine whether the occurrence of somatic mutations
is related to clonal size and an individual's previous exposure to abiotic stressors via a depth gradient.
Concordant acute myeloblastic leukemia in monozygotic twins with germline and shared somatic mutations
in the gene for CCAAT-enhancer-binding protein alpha with 13 years difference at onset.
This case report demonstrates the utility of combining touch preparation with the simplicity of the Idylla instrument as a simple means to rapidly detect somatic mutations
. To our knowledge, this is the first US-based report describing RAS/ BRAF testing on the Idylla system, as well as the first description of using touch preparation with this system.
Few somatic mutations
were identified (an average of 7 mutations per sample) while several copy number alterations were detected, with losses of chr1, chr3, and chr17 being the most recurrent.
Vassart, "Somatic mutations
causing constitutive activity of the thyrotropin receptor are the major cause of hyperfunctioning thyroid adenomas: Identification of additional mutations activating both the cyclic adenosine 3',5'-monophosphate and inositol phosphate-Ca2+ cascades," Molecular Endocrinology, vol.
van Zelst-Stams et al., "Somatic mutations
in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in lynch syndrome-like tumors," Gastroenterology, vol.
Wurgler, "The somatic white-ivory eye spot test does not detect the same spectrum of genotoxic events as the wing somatic mutation
and recombination test in Drosophila melanogaster," Environmental and Molecular Mutagenesis, vol.
Landscape of Somatic Mutations
in HBV-Related eHCC.
It provided TCGA Level 3 data, including somatic mutations
, mRNA expression, and DNA methylation.
For instance, Dendrix was a pathway-based algorithm for discovery of mutated driver pathways in cancer using somatic mutation