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We found that HCC and iCCA components possessed many private nonsynonymous mutations and somatic CNVs.
The cracks in the paradigm of oncogenic mutations and somatic evolution as driving force of tumorigenesis, lucidly exposed by the dynamic heterogeneity of "cancer stem cells" or the diffuse results of cancer genome sequencing projects, indicate the need for a more encompassing theory of cancer that reaches beyond the current proximate explanations based on individual genetic pathways.
Genomic mutations could be divided into germline mutations and somatic mutations.
Using a large cohort of PTC samples obtained from The Cancer Genome Atlas (TCGA), we analyzed the association between disease progression and multiple forms of genomic data, such as transcriptome, somatic mutations, and somatic copy number alterations, and found that genes related to FOXM1 signaling pathway were significantly associated with PTC progression.
In addition to germline variants, ' VarScan 2' is able to identify somatic mutations and somatic CNVs.
Cytosine methylation is a major contributor to the generation of disease-causing germline mutations and somatic mutations that cause cancer.
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Schneppenheim, R. et al. Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.
(A ) SPOP mutation and somatic BRCA1 gene alterations are mutually exclusive in primary prostate cancer.
Genetically, HNPCC is characterised by germline mutation and somatic inactivation of the MMR genes (Liu et al, 1996; Lynch and Smyrk 1996; Lagerstedt Robinson et al, 2007).
Some agents inducing nondisjunction were also tested for the induction of point mutation and somatic crossing-over with these comparative analysis.
Interestingly, no cases were found in this study with a concurrent BRCA1-germline mutation and somatic BRCA1 promoter methylation (Table 3).
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