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Point mutation of p16 gene occurs mainly in exon 2 (Kamb et al. 1994; Nobori et al. 1994).
HER2-neu mutations have been described in a small subset (1.6 %) of lung cancers mainly in exon 19 20 [ 26, 31].
BRAF mutations were detected in 28 (23%) of the tumours and PIK3CA mutations were seen in 22 (18%) tumours mainly in exon 9 (n = 18; 82%) with 4 mutations in exon 20 (18%).
The most common target for both germ line and somatic mutation within the APC gene lies mainly in exon 15, where more than 75% of the coding sequence is located [33,34].
In lung cancer studies [ 10, 11, 26] the majority of cancer associated somatic mutations occur in the tyrosine kinase domain of EGFR and Her-2 neu mainly in exon 18 21 and exon 19 20 respectively.
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Our results show that mutations occur infrequently in these high-risk groups, and that they occur mainly in exons 1α and 2. Rare coding variants with putative functional impact are observed to increase substantially the risk of melanoma.
Genes were partially to totally sequenced (gene coverage from 25to100%0%), mainly in exons (Table 2).
Also, G + C-rich tri-nucleotides (mainly in exons) and tetra-nucleotides with <50% of G + C (mainly in introns and intergenic regions) are characteristic of vertebrates [ 42].
However, anti-EGFR therapy is not effective in patients harbouring activating mutations in genes of the RAS/RAF/MEK/ERK pathway. 2 In total, activating mutations in the RAS genes, mainly in exons 2 and 3 (codons 12/13 and 61), occur in approximately 20% of all human cancers.
With direct DNA sequencing, contamination from normal DNA can mask the true result of tumour DNA analysis, and although SSCP has been widely used for screening mutations these have been mainly in exons 5 8 of p53 (Iacopetta, 2003), but not other regions.
Point mutation of p53 occurs mainly in exons 5 8 (Hasegawa et al. 1995; Vet et al. 1996; Xu et al. 2001); The PCR primers for p53 were as follows: first pair of primers forward, 5′-GTGAGGGG-GCTCTACACAAG-3′; reverse, 5′-ACCA-GCGTGTCCAGGAAG-3′; second pair of primers forward, 5′-CTTCCTGGACAC-GCTGGT-3′; reverse, 5′-GTCCTCACCT-GAGGGACCTT-3′.
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