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Also termed monoallelic mutation analysis, this method may be more widely available in the near future.
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Table 1 lists the 11 of 13 breast cancers that were tested for mutation analysis in this study.
The intergenic spacer (IGS, Figure 1) is internally repetitive making the mutation analysis of this region difficult.
However, it may reflect the presence of another carcinogen that would be supported by the PTCH mutation analysis in this series.
BCR-ABL1 mutation analysis at this time demonstrated a C>T, p.T315I mutation, but the patient was not considered suitable for allogeneic bone marrow transplantation due to co-morbidities.
After the Smad4 (MADH4) gene was isolated from the same region as a tumour-suppressor gene for pancreatic cancer (Hahn et al, 1996), mutation analysis of this gene has been carried out in various cancers.
Copy number variation and point mutation analysis of this strain assessed by use of ORF array and genomic tiling array approaches, respectively, provided a data set against which to compare the efficacy of whole-genome sequencing [ 4].
The mean age at CPM was close to the mean age at mutation analysis for this group with an average interval between the first breast cancer diagnosis and CPM of 3.9 years, while women in the surveillance group were on average tested at an older age.
The experimental design and lacZ mutation analysis used in this study followed OECD guidelines [ 3].
Subsequent mutation analysis showed that this individual indeed did not carry the disease causing mutation in MLH1.
In silico mutation analysis predicted that this SNP would cause a damaging mutation in the NaPi-IIc protein, the likely cause being the loss of function of the transmembrane domain spanning 133 188 amino acids.
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