The ongoing phase 2 TRITON2 (NCT02952534) study is evaluating the poly(ADP-ribose) polymerase inhibitor rucaparib in mCRPC patients harboring a deleterious germline or somatic mutation
in BRCA1, BRCA2, ATM, or other DNA damage repair genes as determined by central screening of tumor tissue or plasma, or from local testing.
The first somatic mutation
of mtDNA was identified in human colonic cancer cells by Bert Vogelstein's group fifteen years ago (20).
CHIP is the proposed term for healthy individuals, lacking hematological malignancy or clonal disorder, but carrying a hematological somatic mutation
. Key findings in CHIP are single gene mutations (mostly DNMT3A, TET2 or ASXL1 mutation), increased risk of developing hematological malignancy, and increased rate of cardiovascular mortality regardless of their cancer risk.
Nonetheless, mosaicism was found to be the primary cause of genetic discrepancies, with 38% of corals harboring at least a single somatic mutation
. Similarly, intraorganismal genetic variation has been reported to vary between 17% and 46% of individuals in 6 different reef-building corals where mosaicism was the predominant underlying mechanism (Maier et al., 2012; Schweinsberg et al., 2015).
CEBPA mutation can occur as an acquired somatic mutation
in sporadic AML or as a germline mutation that is inherited across multiple generations of affected family and present in all the cells of the affected individual.
Next-generation sequencing is becoming more widely used as a valuable method for somatic mutation
analysis in cancer.
It has been observed that, Tp53 c.76 position in dog mammary tumor (DP5) tissues has somatic mutation
of (T), while same position has a germ line mutation (C) at the same locus (Table 3).
Biesecker characterized as "a bunch of clinical designations all caused by the same underlying somatic mutation
in a gene called PIK3CA.
Formalin-fixed paraffin-embedded (FFPE)  tissue is typically used as a source of DNA for somatic mutation
Finally, the rare germline variants of ATRX and KTM2D, identified in N56, and of MDH2, in N53, are missense variants occurring in association with a well-defined somatic mutation
on a susceptibility gene (VHL in N56 and RET in N53) and then it is not clear whether they could have a role on the tumor onset.
This was a somatic mutation
given the frequency of mutation in the sample tissue.
Girard et al., "High-throughput somatic mutation
profiling in pulmonary sarcomatoid carcinomas using the LungCarta[TM] Panel: exploring therapeutic targets," Annals of Oncology, vol.