Variant · Snv
PIK3CA Q546E
CI-VAR-00003545Explore in graph →NP_006209.2:p.Gln546GluNM_006218.3:c.1636C>GClinVar 13654 CIViC 886 rs121913286
Curated evidence
Evidence by cancer (4 items)
Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 19513541
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Lung Non-Small Cell Carcinoma1 | ||||||||
| PIK3CA Q546E | PI103 | Predictive | D | Supports Sensitivity Response | — | submitted | EID2090In H460, a gefitinib-resistant NSCLC cell line that harbors PIK3CA mutations, the dual PI3Kalpha/mTOR inhibitor PI103 reduced cell growth and increased the expression of the tumor suppressor p53 compa… (full text at CIViC) PMID 19513541 · Zou et al., 2009 · Open in CIViC | civic |
| Malignant Breast Neoplasm2 | ||||||||
| PIK3CA Q546E OR PIK3CA Q546R | Alpelisib + FulvestrantCombination | Predictive | A | Supports Sensitivity Response | 5 | accepted | EID7316In a phase 3 trial, patients with hormone receptor positive, HER2 receptor negative breast were allocated to alpelisib plus fulvestrant or placebo plus fulvestrant. Patients were enrolled into two coh… | |
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 13654 | Likely pathogenic | criteria provided, single submitter | 1 | Breast adenocarcinoma; PIK3CA related overgrowth syndrome | somatic | 2 | Sep 09, 2024 | clinvar |