Table 2. Frequency of PTPN11 mutations associated with cancer in our cohort and literature data on its somatic occurrence.
| PTPN11 mutation | Cancer related frequencya | Previously reported as somatic mutation in cancerb |
|---|---|---|
| c.179G>C (p.Gly60Ala) | 1 of 8 | + |
| c.188A>G (p.Tyr63Cys) | 2 of 41 | + |
| c.417G>C (p.Glu139Asp) | 1 of 17 | + |
| c.774G>T (p.Glu258Asp) | 1 of 3 | − |
| c.844A>G (p.Ile282Val) | 1 of 14 | − |
| c.922A>G (p.Asn308Asp) | 1 of 62 | − |
| c.925A>G (p.Ile309Val) | 1 of 3 | − |
| c.1472C>T (p.Pro491Leu) | 1 of 4 | + |
| c.1508G>C (p.Gly503Ala) | 1 of 1 | + |
| c.1510A>G (p.Met504Val) | 2 of 17 | − |
a
The second number represents how often the mutation has been identified in our cohort, whereas the first number displays the number of patients in the cohort with this mutation who developed a malignancy.
b
The data in this column are derived from Aoki et al.38