PIK3CA Q546P

CI-VAR-00003549Explore in graph →NP_006209.2:p.Gln546ProNM_006218.4:c.1637A>CClinVar 375898 CIViC 887 rs397517201

Curated evidence

Evidence by cancer (3 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.

civicCuratedShowing 1–3 of 3 evidence items across 3 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Malignant Breast Neoplasm1
PIK3CA Q546K OR PIK3CA Q546E OR PIK3CA Q546P OR PIK3CA Q546R OR PIK3CA Q546L OR PIK3CA K111E OR PIK3CA K111N OR PIK3CA K111R OR PIK3CA Q546H	Fulvestrant + Inavolisib + PalbociclibCombination	Predictive	A	Supports Sensitivity Response	3	accepted	EID12536 The phase III INAVO120 trial (NCT04191499) in 325 patients with endocrine-resistant, PIK3CA-mutated HR⁺/HER2⁻ locally advanced or metastatic breast cancer evaluated inavolisib plus palbociclib and ful… (full text at CIViC) PMID 40845250 · Wedam et al., 2025 · Open in CIViC	civic
HER2 Negative Breast Cancer1unmapped disease
PIK3CA Q546P	Capivasertib + FulvestrantCombination	Predictive	A	Supports

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
375898	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Ovarian neoplasm; PIK3CA related overgrowth syndrome; Neoplasm; Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	somatic	5	Jul 18, 2025	clinvar

Unmapped disease1unmapped disease
PIK3CA Q546P	(functional)	Functional	D	Supports Gain Of Function	3	submitted	EID7695 The rare PIK3CA mutation Q546P was shown to have strong oncogenic transforming abilities when expressed in chicken embryo fibroblasts (CEF), similar to levels seen for hotspot PIK3CA mutations. The Q5… (full text at CIViC) PMID 17376864 · Gymnopoulos et al., 2007 · Open in CIViC	civic