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Detailed knowledge regarding the mutations allows a more accurate prognosis and a better tailored treatment of patients.
The data regarding the mutations and impacts exists primarily in scientific publications.
In order to improve the model's performance, we extended it using a content-based-model to take into account biological information regarding the mutations.
Regarding the mutations, they can be classified into three different subgroups: missense mutation leading to amino-acid substitutions, nonsense mutations causing the transition of a codifying codon into a stop codon and insertion/deletion mutations, that modify the reading frame of the coding region and/or the donor/acceptor splice sites.
Regarding the mutations with possible prognostic significance identified in our cohort, there was a trend towards worse overall survival associated with BRAF mutations (p = 0.079), while no prognostic association was found in the TCGA cohort in association with mutations in ERBB4, ABL1, JAK3, FLT3 or FGFR3.
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The selection regime had no a priori suppositions regarding the mutation(s) required and it remains to be seen how many different mutational pathways can lead to thermotolerance.
Many studies have examined specific mutations in patients with resected lung adenocarcinoma across heterogeneous stages, comprising predominantly advanced/metastatic disease, but there is little data regarding the mutation profile of patients with early stage node negative disease.
Some data regarding the mutation status of EGFR was previously reported [5].
However, different conclusions have been drawn regarding the mutation rate of a hub [ 12, 16].
To facilitate the users to assess all the information regarding the mutation of interest, detailed annotation of the mutations were performed.
Mutation spectrum analysis compares frequencies of different types of mismatches across multiple samples (Alexandrov et al., 2013) and can provide useful information regarding the mutation-generating mechanisms.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com