Table 1 Summary of the genetic profile identified in a case of primary mucinous cystadenocarcinoma of the breast and review of the literature
Cases | gene | Type of mutation | Mutation site | Allele frequency |
|---|---|---|---|---|
Present case | PIK3CA | Missense mutation | c.3140A | 23.9% |
| Â | KRAS | Missense mutation | c.35G | 55.5% |
| Â | MAP2K4 | Frameshift mutation | c.257_258del | 30.5% |
| Â | RB1 | nonsense mutation | c.277C | 55.2% |
| Â | KDR | Missense mutation | c.521G | 14.1% |
| Â | PKHD1 | Missense mutation | c.6453G | 30.9% |
| Â | TERT | Missense mutation | c.1006G | 15.5% |
| Â | TP53 | Missense mutation | c.476C | 44.0% |
Lin’s case [18] | BAP1 | Frameshift deletion | c.362delG | 6.5% |
| Â | RB1 | Frameshift deletion | c.2518delG | 9.4% |
| Â | TP53 | Missense mutation | c.G329C | 7.7% |