Sturge-weber syndrome and port-wine stains caused by somatic mutation
Catalogue of Somatic Mutations
in Cancer (COSMIC) IDs were obtained using COSMIC v72 (13).
Historically, the discussion of somatic mutations
has revolved around their role in tumorigenesis.
Correlations between the Expression Levels of NEIL1, NEIL2, and NEIL3 and the Extent of Somatic Mutation
in Human Cancer.
They occur over the course of our lifetime and are known as somatic mutations
Exposed to dinitroanilines, Tifgreen, Tifdwarf, Flora-dwarf, MS-Supreme, and TifEagle may exhibit lower levels of somatic mutation
However, the risks of acquiring the inherited diseases are irrelevant in a situation in which an individual is claiming a somatic mutation
A somatic mutation
in the GJB2 gene, which encodes the gap junction protein connexin 26, has recently been implicated in the pathogenesis of PEODDN.
We used a panel for detection of hot-spot mutations from 50 oncogenes and tumor suppressor genes, and then used targeted next-generation sequencing (NGS) to identify somatic mutation
of these samples in those 50 genes.
Optimization of probe concentration translated into the generation of 6 unique fluorescence clusters: 1 for each targeted somatic mutation
(3 blue and 1 green clusters), 1 for the wild-type (WT) alleles (large orange cluster), and another 1 just reflecting droplets with no DNA template (black cluster).
Sporadic cases are probably the results of somatic mutation
Geneticists then revived the somatic mutation
theory (SMT) of Prof.
Refining the relation between 'first hits' and 'second hits' at the APC locus: the loose fit' model and evidence for differences in somatic mutation
spectra among patients.
12,20-22) Mutation of the VHL gene within ELST cells has been demonstrated in patients who have no other manifestations of VHL disease, which suggests that somatic mutation
of the gene is an inciting factor in tumorigenesis.
Second, evidence was accumulating in support of the somatic mutation
theory of carcinogenesis, which strengthened the links between the study of mutagenesis and that of carcinogenesis.