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Interestingly, the "breast cancer mutated kinases" gene set – composed of kinases genetically mutated in primary breast tumors [25] - appears to be up-regulated only in breast and ovary tumors, as compared to the corresponding cell lines.
The "breast cancer mutated kinases" gene set – composed of kinases found to be genetically mutated in primary breast tumors [25] - was found to be up-regulated only in breast and ovary tumors, as compared to cell lines.
Parallel whole-exome sequencing studies have identified 265 genes mutated in primary immunodeficiencies (PID).
Steimle, V. et al. A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome).
TET2 appears to be mutated in primary human samples in aggressive types of SM, suggesting a possible role in disease modification.
In humans the activation of gene transcription by β-catenin plays a critical part in carcinogenesis, and actually, three regulatory genes in the Wnt signaling pathway are found to be mutated in primary cancers [49].
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Although SPI1 seems only infrequently mutated in human primary and tAML, several reports have highlighted downregulated SPI1 gene/PU.1 mRNA expression in primary AML patients.
Notably, FAT4 was the only gene mutated in two primary HCCs and the recurrences.
Statistical analysis of the whole series (230 patients) revealed that KRAS is more frequently mutated in the primary tumors of patients with lung metastases compared with patients with liver metastases (57% vs 35%, P = 0.006).
FOXA1 is an AR cofactor that is recurrently mutated in both primary and metastatic tumours (Barbieri et al, 2012).
The objective of this study was to identify the gene that is mutated in the primary chlorophyll-deficient C. japonica virescent mutant, Wogon-Sugi.
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