Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA MUTATION
PIK3CA MUTATION - Associated Disease
- breast cancer
- Source Database
- CIViC Evidence
- Description
- This was a Swedish study of 270 breast tumors removed from patients with unilateral operable breast cancer, and either lymph node metastases or a tumor diameter >30mm. PIK3CA missense mutations were found in 66/270 (24%) tumors. Of these, 36 tumors (55%) harbored mutations in exon 20— 33 H1047R, 1 Y1021C, 1 G1049R, and 1 H1047P. The other 30 were missense mutations in exon 9— 11 E542K, 18 E545K, 1 Q546P. The study found that the risk of relapse with a local recurrence was significantly lower among patients with a PIK3CA mutation in comparison with those who carried wild-type PIK3CA (p= 0.023). When adjusting for other factors, including ER status, node status, tumor size, and treatment (tamoxifen vs no tamoxifen or radiotherapy vs chemotherapy), mutations in the PIK3CA gene were associated with approximately half the risk for local recurrence in comparison with wtPIK3CA (p = .07).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6188
- Gene URL
- https://civic.genome.wustl.edu/links/genes/37
- Variant URL
- https://civic.genome.wustl.edu/links/variants/311
- Rating
- 3
- Evidence Type
- Prognostic
- Disease
- Breast Cancer
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Better Outcome
- Pubmed
- 17575221
Drugs