Table 1.
Clinicopathological characteristics of 313 breast cancer patients.
Table 2.
Frequencies of somatic mutations in this study compared with TCGA data.
Table 3.
Pathogenic mutations of AKT1, PIK3CA, PTEN and TP53 genes in the 313 breast cancer patients.
Fig 1.
Mutational spectrum of AKT1 (a), PTEN (b), PIK3CA according to molecular subtypes (c-f) and TP53 according to molecular subtypes (g-j). Non-silent somatic mutations mapped to the protein sequence of each genes are shown. Cyan dot indicates missense mutation; Red dot indicates nonsense mutation; Black dot indicates splice site mutation; Green dot indicates frameshift mutation; Brown dot indicates in-frame mutation. The number of dots indicates the number of cases. Protein domains are shown as colored bars: PH, pleckstrin homology domain; HM, hydrophobic motif domain; C2, conserved domain 2; PI3K_p85B, p85 binding domain; PI3K_rbd, Ras-binding domain; PI3Ka, accessory domain; PI3K/PI4K, phosphatidylinositol 3-kinase and phosphatidylinositol 4-kinase domain.
Table 4.
Recurrent somatic mutations with the percentage >1% in the 313 breast cancer patients.
Table 5.
Clinicopathological characteristics and associations with somatic mutation status in 313 breast cancer patients.
Fig 2.
The distribution of somatic mutations in different breast cancer subtypes of the 313 breast cancer patients.
a. The graphical summary of somatic mutations of the 4 genes in molecular subtypes. All of the 190 tumor samples with 4 gene somatic mutations are grouped into 5 groups: luminal A (n = 46), luminal B (n = 81), basal-like (n = 29), HER2-enriched (n = 22) and unknown (n = 11). The stripe panel shows every specific case harboring the 4 gene mutation with different mutation types. One stripe indicates one patient. Green stripe indicates missense mutation; Blue stripe indicates frameshift mutation; Red stripe indicates nonsense mutation; Black stripe indicates split site mutation; Dark Gray stripe indicates silent mutation; Cyan stripe indicates inframe indel mutation; Yellow star indicates mutation recorded in COSMIC database. b. The somatic mutation frequency of AKT1, PTEN, PIK3CA and TP53 in different breast cancer subtypes. The frequency of somatic mutations for individual gene is shown in the bar chart in various groups according to molecular subtypes of breast cancer. These groups include All (N = 313), luminal A (N = 86), luminal B (N = 128), basal-like (N = 40), HER2-enriched (N = 37) and unknown (N = 22).