PIK3CA E81K

CI-VAR-00000853Explore in graph →NP_006209.2:p.Glu81LysNM_006218.3:c.241G>AClinVar 376478 CIViC 1500 rs1057519929

Curated evidence

Evidence by cancer (2 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 1–2 of 2 evidence items across 2 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 Colorectal Neoplasm1
PIK3CA E81K	Cetuximab + Fluorouracil + OxaliplatinCombination	Predictive	C	Does Not Support Resistance	2	accepted	EID4464 Two patients participating in a large retrospective study of cetuximab in metastatic, treatment refractory colorectal cancer had tumors which harbored PIK3CA E81K, were wildtype for NRAS, BRAF and PIK… (full text at CIViC) PMID 20619739 · De Roock et al., 2010 · Open in CIViC	civic
PIK3CA-Related Overgrowth Spectrum1unmapped disease
PIK3CA E81K	(diagnostic)	Diagnostic	C	Supports Positive	3	submitted	EID9483 In a study examining PIK3CA variants associated with PIK3CA-Related Overgrowth Syndrome (PROS), somatic PIK3CA E81K (c.241 G>A) was identified at various allele frequencies in hair follicles, saliva, …

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
376478	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Abnormal cardiovascular system morphology; CLOVES syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome; Cowden syndrome; PIK3CA related overgrowth syndrome; Neoplasm	germline/somatic	8	Sep 20, 2023	clinvar