Maternal mutations as well as somatic mutations
can cause diseases.
Myeloid neoplasms that lack a cytogenetic alteration but show a somatic mutation
can be diagnosed by the above-mentioned mutation profiles.
However, this may not apply to many organisms, including fungi, plants, and clonal animals, where somatic mutations
may be incorporated into asexual daughter cells, gametes, and resulting offspring (Inagaki et al., 1996; Schweinsberg et al., 2014).
Similar to AML with biallelic CEBPA mutations, the presence of DDX41 germline mutation predisposes acquisition of additional DDX41 somatic mutation
on the other allele.
This variant has been reported as a somatic mutation
in patients with lung cancer and as a germline mutation in patients with Peutz-Jeghers syndrome.
Sequence diversity of Tp53 gene was analyzed in dog tumors to have an insight of accumulated somatic mutations
in 18 samples belongs to 7 different types of cancers.
A recent study on colorectal cancer cases showed excellent concordance between somatic mutation
results obtained by the Idylla system and those generated by next-generation sequencing (3)?
On the contrary, the role of the other rare germline variants ATRX, KTM2D, and MDH2 genes identified in two cases having a well-defined somatic mutation
on a susceptibility gene (RET or VHL) remains still unclear.
A somatic mutation
of TSHR gene (c.I703T>C) has been previously described in a patient who presented with a toxic thyroid adenoma and was demonstrated to have potent activation of the adenylate cyclase pathway [16 ].
Although limited information is currently available about somatic mutations
in the driver genes of giant cell carcinoma , assessments of a small number of subjects found that the EGFR tyrosine kinase inhibitors were effective for giant cell carcinomas with EGFR sensitive mutations .
(3) An unrevealed biological process within the tumors, not involving a germline mutation, for instance, a double somatic mutation
in the MMR gene, mostly occurs in sporadic CRCs .
Considering that previous studies with ionic and soluble forms of nickel (e.g., Ni[Cl.sub.2] and NiS[O.sub.4]) have shown negative results in the Drosophila wing-spot test , the genotoxic effects found with Ni-NPs indicate that the intrinsic nanoscale size and large surface area properties of these particles play a relevant role in the induction of somatic mutation