Germ-line SMARCB1 inactivation has been reported in association with rhabdoid tumor, epitheloid sarcoma and familial schwannomatosis, underscoring the importance of accurate mutation screening to ascertain recurrence and transmission risks.
In addition to pooled analyses of all patients from all trials and of patient subgroups defined according to EGFR status, we aimed to carry out appropriate tests of interaction between treatment effects and patient characteristics, namely mutation status, to ascertain whether effects differed between patient groups.
In the FEBS Letters paper, we have clearly stated in the abstract that "We present here a fast molecular dynamics based method for determining the mechanisms of functional loss caused by mutations, and attributes to ascertain whether a mutation causes ALS", rather than highlighting the rare mutations.
To overcome the point-mutation testing limitation of single mutation detection, we directly sequenced positive mutation-specific PCR products to ascertain whether additional genotypic information could be easily obtained.
Moreover, APT gene when inactivated by induced mutations was used as selectable marker to ascertain mutational background at nucleotide level by sequencing of the APT locus.
Computational modeling of these mutations is in process to ascertain whether they impede contact between the KIT inhibitors, including TOC, and their binding sites or alter spatial conformation of the target protein.
An earlier study that examined this question did not identify LKB1 mutations in sporadic cervical cancers, but only minimal deviation adenocarcinomas were analyzed, as the goal of the study was to ascertain LKB1 mutation frequencies in gynecologic malignancies known to be associated with PJS.
To ascertain if mutation of ubiquitylated (K171 and 196) or SUMOylated (K171) site is sufficient to inactivate the antitumor properties of VHL in cancer cells, we tested whether mutation of lysine 171/196 resulted in disruption of VHL on inhibition of the transcriptional activity of HIFα.
Here, by assessing evolutionary selective advantage from longitudinal data, which we demonstrated was independent of viral load, rather than cross-sectional mutation frequency we were able to ascertain the direction of causality: viral escape from CTL appears to contribute to clinical decline.
Immunohistochemistry and TP53 gene mutation analyses may be used to ascertain the clonality of synchronous tumours.
