Polymorphisms seen in PTEN in patients with breast cancer and a family history of breast cancer
| Exon/intron | Variant | Observations | Frequency | Comments |
|---|---|---|---|---|
| IVS1 | 82-126A>G | 1/177 | 0.006 | |
| IVS1 | 82-4A>G | 1/177 | 0.006 | No effect on splicing by in vitro and in vivo assays |
| IVS4 | 210+109ins5 | 66/177 | 0.37 | Associated with decreased age of breast cancer diagnosis in insertion homozygotes |
| IVS9 | 1212+65insA | 4/177 | 0.02 |