Furthermore, in tumor samples, mutations may be missed.
In breast cancer samples, mutations in TP53 have been associated with increased incidence of chromosomal abnormalities in patients (86, 87).
As to concern primary pulmonary versus metastatic tumor samples, mutations were detected in 45/226 (19.9%) and 16/95 (16.8%) cases, respectively.
Truncating mutations in the mismatch repair genes [ 10] MSH6 (three samples) and MSH2 (one sample) were identified and were concurrent with IDH1 (two samples) and SETD2 (three samples) mutations.
Primary research papers are read and information about the samples, mutations and experimental methods (see Table 1 > -wrap-foot>) is extrandenteredentered into the database.
For the 110 samples, mutations in all eight genes (EGFR, KRAS, NRAS, MEK1, PIK3CA, BRAF, HER2, and PTEN) were analyzed using the Snapshot assay.
More precisely, in a fixed sample which has N mutated genes, each mutated gene receives a sample mutation score of 1/N.
The mutation scores are obtained by adding sample mutation scores over all samples followed by normalization to 1.
Query #1: 'Find all missense substitution mutations for BRAF in cell lines, and display sample, mutation, site, and histology information'.
For the sample mutation dataset (TCGA UCEC), the same steps used for the modified COSMIC reference dataset must be performed.
