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Of these, 237 also had aCGH data and 159 had mutation data available.
There is published mutation data available for at least 1522 mononucleotide coding microsatellites from 460 genes in MSI-High colorectal cancers[16].
Among the present patient cohort, we had CIMP and BRAF mutation data available in 322 and 269 patients, respectively, which had been reported previously (Han et al, 2013).
Current genome-wide predictors of mutation pathogenicity perform well on average, probably because they can use the huge amount of mutation data available.
Furthermore, among Brazilian families meeting the most stringent clinical (Amsterdam I) criteria for LS [ 12] but with no mutation data available, breast cancer was the most frequent extracolonic cancer in women, even exceeding the frequency of endometrial cancer [ 13].
However, in a larger set at our institution of 246 patients with metastatic colorectal cancer with only mutation data available, a pattern of dual NRAS/ CTTNB1 mutations could not be confirmed.
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Somatic mutation data are available via hyperlinks in Table S1B and are also available via COSMIC at http://www.sanger.ac.uk/genetics/CGP/cosmic/ and have been annotated to Ensembl v58.
A second set of GPCRs was created comprising 14 disease-associated proteins of unknown structure and for which mutation data are available (Table 2).
To gain a global view of genomic alterations occurring in glioblastoma, we restricted our analysis to the 91 TCGA GBM cases, for which both copy number and sequence mutation data were available.
Of 278 tumors for which chromosomal copy number and/or mutation data were available, amplification and/or somatic non-synonymous mutation of EGFR was found in 40% (n = 111) and of PDGFRA in 7% (n = 19), while chromosomal loss and/or mutation of NF1 was found in 16% (n = 45).
BRCA1 mutation data were available in 89 cases.
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