Variant · Snv

PIK3CA H1047L

CI-VAR-00001869Explore in graph →NP_006209.2:p.His1047LeuNM_006218.3:c.3140A>TClinVar 13653 CIViC 1151 rs121913279

Curated evidence

Evidence by cancer (12 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 1–12 of 12 evidence items across 5 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
Breast Tubular Carcinoma1
PIK3CA H1047R OR PIK3CA H1047L	(prognostic)	Prognostic	B	Supports Poor Outcome	1	accepted	EID3047 In a retrospective analysis of 32 Western Chinese female patients with invasive ductal breast cancer, PIK3CA H1047L (n=1) or H1047R (n=8) was associated with worse survival and increased incidence of … (full text at CIViC) PMID 28269754 · Cheng et al., 2017 · Open in CIViC	civic
Malignant Breast Neoplasm5
PIK3CA H1047L	PI-103	Predictive	D	Supports Sensitivity Response	1	accepted	EID8009 As part of a preclinical study, the efficacy of PI-103 was evaluated for several cell lines of breast cancer. Sensitivity and resistance was categorized as less than and more than an IC50 of 1umol/L, … (full text at CIViC) PMID 20453058 ·

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
13653	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Breast adenocarcinoma; CLOVES syndrome; PIK3CA related overgrowth syndrome; Ovarian neoplasm; Macrodactyly of toe; Stroke disorder; CLAPO syndrome; Cowden syndrome 1; Megalencephaly-capillary malformation-polymicrogyria syndrome; Colorectal cancer; Hemihypertrophy; CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC; Inborn genetic diseases; Cavernous lymphangioma; Neoplasm; Medulloblastoma WNT activated; Rosette-forming glioneuronal tumor; Diffuse midline glioma, H3 K27M-mutant

Malignant Colorectal Neoplasm4
PIK3CA H1047L	Aspirin	Predictive	B	Supports Sensitivity Response	—	rejected	EID2827 In a study of 413 patients with colorectal cancer who were taking aspirin since diagnosis, the frequency of PIK3CA mutations was 17% (70/413). In 530 patients with colorectal cancer not using aspirin,… (full text at CIViC) PMID 23094721 · Liao et al., 2012 · Open in CIViC	civic
PIK3CA H1047L	Aspirin	Predictive	B	Supports Sensitivity Response	—	submitted	EID2828 Phosphatidylinositol 3-kinase (PIK3CA) is composed of an 85kDa regulatory subunit and a 110kDa (p110alpha) catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which u… (full text at CIViC) PMID 9742087 · Klippel et al., 1998 · Open in CIViC	civic
PIK3CA H1047L	Cetuximab	Predictive	C	Supports Resistance	—	rejected	EID4433 In a retrospective study of 168 chemotherapy-refractory metastatic colorectal cancer patients, patients with a PIK3CA mutation (n=26) treated with cetuximab in combination with standard chemotherapy, … (full text at CIViC) PMID 19603024 · Souglakos et al., 2009 · Open in CIViC	civic
PIK3CA H1047L	Cetuximab + IrinotecanCombination	Predictive	C	Supports Resistance	3	accepted	EID4432 Two patients participating in a large retrospective study of cetuximab in metastatic, treatment refractory colorectal cancer had tumors which harbored PIK3CA H1047L (exon 21), were wildtype for NRAS, … (full text at CIViC) PMID 20619739 · De Roock et al., 2010 · Open in CIViC	civic