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.
A multigene hotspot mutational profiling of the BRAF, NRAS, HRAS and KRAS genes was carried out, and a shared G13R HRAS mutation in both the trichoblastoma and the sebaceous nevus components was found.
In a case of ASC, we performed hotspot multigene mutational profiling of 164 hotspot regions of eleven cancer-associated genes (AKT1, APC, BRAF, CTNNB1, KIT, KRAS, NRAS, PDGFRA, PIK3CA, PTEN and TP53) in the two microdissected components.
Our tumor set was validated by previous mutational profiling of common cancer genes, including the IDH1 gene [21].
The distinct mutational profiles of GNAS and KRAS mutations might be potentially helpful in determining the origins of metastatic mucinous tumours in clinical situations.
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.
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.
We investigated the nuclear mutational profile of oncocytic tumors to pinpoint the mutations that may trigger the early oncogenic hit.
