The unique mutational profile of GATA3, dominated by frameshift mutations, may prompt further investigations about their mechanism of onset and significance.
According to the Sanger Institute catalogue of somatic mutations in cancer (*COSMIC database, Catalogue of Somatic Mutations In Cancer, http://www.sanger.ac.uk/), the mutational profile of the above cited cell lines is reported: Detroit562 cells harbour a H1047R mutation in the PI3K gene; Kyse30 cells harbour a Q61L mutation in the H-Ras gene.
We investigated the nuclear mutational profile of oncocytic tumors to pinpoint the mutations that may trigger the early oncogenic hit.
The mutational profile of IDH1 and IDH2 is peculiar as the mutations affect only single evolutionarily conserved residues (arginines R132 and R172, respectively).
We evaluated the mutational profile of 'hot spot' regions of three oncogenes frequently mutated in solid cancers: KRAS (exon 2), EGFR (exons 18-19-20-21) and PIK3CA (exons 9 20), as described in the Additional file 1.
To assess if the mutations are present in other tumor types we performed a systematic mutational profile of the GNAQ exon 5 in a panel of 922 neoplasms, including glioblastoma, gastrointestinal stromal tumors (GIST), acute myeloid leukemia (AML), blue naevi, skin melanoma, bladder, breast, colorectal, lung, ovarian, pancreas, and thyroid carcinomas.
The distinct mutational profiles of GNAS and KRAS mutations might be potentially helpful in determining the origins of metastatic mucinous tumours in clinical situations.
In a series of 96 thyroid tumours whose mutational profiles of BRAF, IDH1 and NRAS mutations and RET/PTC were previously determined, we investigated MLH1 and MGMT expression and methylation status by qPCR and methylation-specific PCR after bisulphite treatment, respectively.
The samples included in the analysis have been previously used for mutational profiling of cancer genes and we have shown that common mutations can be identified in this tumors database [6], [7], [8].
Furthermore, the E17K substitution in AKT1 was mutually exclusive with respect to mutations in PTEN and PIK3CA, as in the freshly frozen samples, mutational profiling of all nine PTEN exons and of the mutational hotspots of PIK3CA (exons 9 and 20) showed no mutations (Table 1b).
To uncover other potential gain-of-function somatic mutations that could have biological and clinical relevance in lung cancer, we performed mutational profiling of a large cohort of lung tumors, mostly adenocarcinomas.
