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However, full BRCA1 and BRCA2 screening still remains a tedious task due to gene length, the plethora of mutations, the high frequency of BRCA1 rearrangements requiring special technical approach, and mutation spectrum differences in different populations.
We found no evidence for quantitative (germline mutation rate) or qualitative (mutation spectrum) differences in CEB1 minisatellite mutations between case and control families.
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The mutation spectra differed in each case.
If differences between the ancestor and the reference represent both neutral and selected mutations, then the mutation spectrum might differ from that observed among the MA lines.
Realized mutation spectrum in different time windows.
We observe considerable differences in the mutation spectrum and indel rate, suggesting that there are species-specific differences in factors affecting mutation bias and indel rate between these two species.
Some genes, e.g., TP53, EGFR, and KRAS, have high frequency of mutations in lung cancer (The Cancer Genome Atlas Research Network, 2012, Imielinski et al., 2012), and ethnic and sex-related differences in mutation spectrum are noted (Dearden et al., 2013, Kosaka et al., 2004).
The BaP mutation spectrum in bone marrow had significant differences from the control spectrum (Fig. 3).
For calculating statistical differences in the mutation spectrum data the chi-squared test was used.
The differences in the mutation spectrum of the c-K-ras gene in cancers of the gastrointestinal and respiratory tracts are suggestive of differential exposure to genotoxic agents.
Therefore, geographical variation may account for differences in the mutation spectrum of BRAF, as observed for MMR genes (Wei et al, 2003; Lee et al, 2005; Goldberg et al, 2008).
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