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For example, the golden color on half of this Red Delicious apple was caused by a somatic mutation.
Takeda, J. et al. Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.
Thus, in our study, when genotypes within a single colony differed by one allele at only one locus, we assumed alleles with a single repeat difference were probably produced by a somatic mutation, and therefore the colony could not be classified as a chimera (e.g., Swp64, Table 3).
Consistent with this hypothesis, recent molecular and immunohistochemical data provide good evidence that in some cases CCM lesion formation involves a genetic two-hit mechanism in which a germline mutation in one allele of a CCM gene is followed by a somatic mutation in the other allele [19], [20], [21], [22].
In sporadic colorectal cancer, the pathway must be activated and influence stromal cells by a somatic mutation in an epithelial cell.
An interesting model is represented by paroxysmal nocturnal haemoglobinuria (PNH), characterised by a somatic mutation of the PIG-A gene in haematopoietic cells (Rosse, 2001).
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Multiplicity is calculated by evaluating the number of cancers and genes linked by the measurement of a somatic mutation.
The critical role of the PH domain in Akt-driven tumourigenesis has recently been highlighted by the detection of a somatic mutation in Akt1 PH domain resulting in Akt1 activation in breast, colorectal and ovarian cancers (Carpten et al, 2007).
Using Cake and an intersection of any two or more callers, we made 1225 calls (per sample 613 ± 42), of which 254 were from a reference call set representing a subset of positions (264) covered by the capture baits where a somatic mutation had resulted in a non-synonymous change; a sensitivity of 96.2% (Table 1, Supplementary Fig. S4).
The two-hit model that was proposed by Germino et al. suggested that a somatic mutation on the opposite allele might lead to a loss of heterozygosity [ 20- 24].
We computed the inter-somatic mutation distance within individuals by defining the inter-somatic mutation distance as the distance from a somatic mutation to the very next one.
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