Table 1.
Em Ca (35%)‡ | PMM (70%)‡ | ||||||
---|---|---|---|---|---|---|---|
Gene | Code | Amino acid change | Chromosome | MiSeq sequencing# | OncoScan MIP microarrayξ | MiSeq sequencing# | OncoScan MIP microarrayξ |
TP53* | 215G > C | Pro/Arg | 17 | + (55%) | NA | + (33%) | NA |
PIK3CA | 1624G > A | Glu/Lys | 3 | + (34%) | + | - | - |
GNA11 | 973 T > C | Tyr/His | 19 | - | NA | + (32%) | NA |
JAK3 | 703C > T | Ser/Asn | 19 | - | NA | + (44%) | NA |
Abbreviation:MIP molecular inversion probe.
*This mutation is also found in patient’s blood.
‡Numbers in the brackets indicate the percentage of tumor cells observed by the pathologist.
#Numbers indicate the percentage of alternate alleles.
ξAnalyzed by “somatic mutation viewer” (Additional file 3), NA: data not available.