Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA MUTATION
PIK3CA MUTATION - Associated Disease
- breast cancer
- Source Database
- CIViC Evidence
- Description
- An Italian study of 163 malignant breast tumors assessed the association between PIK3CA mutations and clinical outcome. Of the 163 tumors sequenced, 118 had wild-type (wt) PIK3CA, 24 had exon 9 (helical domain) missense mutations, and 21 had exon 20 (kinase domain) missense mutations. The study found that patients with exon 9 mutations showed significantly worse 5-year overall survival (OS) and 5-year disease free survival (DFS) compared to patients with wt PIK3CA (P=.018 and P = .04, respectively). Furthermore, patients with exon 9 mut showed especially worse OS and DFS than patients with exon 20 mutations (P=.0018 and P=.0017, respectively). The 21 cases with exon 20 mutations had excellent prognosis with no recurrences or deaths, whereas there were 10 recurrences and 9 deaths among the 24 cases of exon 9 mutations, in observed period.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6199
- Gene URL
- https://civic.genome.wustl.edu/links/genes/37
- Variant URL
- https://civic.genome.wustl.edu/links/variants/2337
- Rating
- 4
- Evidence Type
- Prognostic
- Disease
- Breast Cancer
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Poor Outcome
- Pubmed
- 17947469
Drugs