Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17849071
rs17849071
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.020 GeneticVariation BEFREE Single nucleotide polymorphism rs17849071 G/T in the PIK3CA gene is inversely associated with follicular thyroid cancer and PIK3CA amplification. 23185308

2012

dbSNP: rs17849071
rs17849071
CUI: C2931367
Disease: Thyroid cancer, follicular
Thyroid cancer, follicular
0.020 GeneticVariation BEFREE Single nucleotide polymorphism rs17849071 G/T in the PIK3CA gene is inversely associated with follicular thyroid cancer and PIK3CA amplification. 23185308

2012

dbSNP: rs17849071
rs17849071
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.020 GeneticVariation BEFREE This provides an explanation for the reciprocal relationship of rs17849071G/T with FTC, since PIK3CA amplification is an important oncogenic mechanism in thyroid cancer, particularly FTC. 23185308

2012

dbSNP: rs9838411
rs9838411
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE We found the following: (1) PIK3CA rs6443624 and rs9838411 variants either borderline or significantly decreased risk of endometrial cancer in a dominant model (adjusted odds ratio [OR], 0.62; 95% CI, 0.39-1.00 and 0.59; 95% CI, 0.36-0.95, respectively). 22146979

2012

dbSNP: rs9838411
rs9838411
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.010 GeneticVariation BEFREE We found the following: (1) PIK3CA rs6443624 and rs9838411 variants either borderline or significantly decreased risk of endometrial cancer in a dominant model (adjusted odds ratio [OR], 0.62; 95% CI, 0.39-1.00 and 0.59; 95% CI, 0.36-0.95, respectively). 22146979

2012

dbSNP: rs6443624
rs6443624
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE (3) KRAS rs7312175 and PIK3CA rs6443624</span> had significant effects on recurrence of endometrial cancer individually and combined in a locus-dosage manner (adjusted P (trend) = 0.003). 22146979

2012

dbSNP: rs6443624
rs6443624
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.010 GeneticVariation BEFREE (3) KRAS rs7312175 and PIK3CA rs6443624</span> had significant effects on recurrence of endometrial cancer individually and combined in a locus-dosage manner (adjusted P (trend) = 0.003). 22146979

2012

dbSNP: rs2699887
rs2699887
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE (2) In Cox regression analyses, three SNPs (PIK3R1 rs1862162, AKT2 rs892119, and PIK3CA rs2699887) showed significant associations with survival of endometrial cancer patients. 22146979

2012

dbSNP: rs2699887
rs2699887
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.010 GeneticVariation BEFREE (2) In Cox regression analyses, three SNPs (PIK3R1 rs1862162, AKT2 rs892119, and PIK3CA rs2699887) showed significant associations with survival of endometrial cancer patients. 22146979

2012

dbSNP: rs17849071
rs17849071
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.010 GeneticVariation BEFREE This provides an explanation for the reciprocal relationship of rs17849071G/T with FTC, since PIK3CA amplification is an important oncogenic mechanism in thyroid cancer, particularly FTC. 23185308

2012

dbSNP: rs17849071
rs17849071
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.010 GeneticVariation BEFREE We investigated SNP rs17849071 (minor allele G and major allele T) in PIK3CA in thyroid tumors in 503 subjects by PCR and sequencing of a region of intron 9 carrying this SNP. 23185308

2012

dbSNP: rs17849071
rs17849071
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.010 GeneticVariation BEFREE This provides an explanation for the reciprocal relationship of rs17849071G/T with FTC, since PIK3CA amplification is an important oncogenic mechanism in thyroid cancer, particularly FTC. 23185308

2012

dbSNP: rs17849071
rs17849071
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.010 GeneticVariation BEFREE This provides an explanation for the reciprocal relationship of rs17849071G/T with FTC, since PIK3CA amplification is an important oncogenic mechanism in thyroid cancer, particularly FTC. 23185308

2012

dbSNP: rs121913282
rs121913282
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
0.010 GeneticVariation BEFREE Notably, multiple mutations were identified in phosphoinositide-3-kinase (PI3K), catalytic, alpha polypeptide (PIK3CA) (H1047R, E→lysine at codon 545 [E545K], and H→proline at codon 701 [H701P]) that were not observed previously in osteosarcoma. 22006429

2012

dbSNP: rs121913282
rs121913282
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
0.010 GeneticVariation BEFREE Notably, multiple mutations were identified in phosphoinositide-3-kinase (PI3K), catalytic, alpha polypeptide (PIK3CA) (H1047R, E→lysine at codon 545 [E545K], and H→proline at codon 701 [H701P]) that were not observed previously in osteosarcoma. 22006429

2012

dbSNP: rs121913282
rs121913282
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.010 GeneticVariation BEFREE Notably, multiple mutations were identified in phosphoinositide-3-kinase (PI3K), catalytic, alpha polypeptide (PIK3CA) (H1047R, E→lysine at codon 545 [E545K], and H→proline at codon 701 [H701P]) that were not observed previously in osteosarcoma. 22006429

2012

dbSNP: rs121913279
rs121913279
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
0.010 GeneticVariation BEFREE Notably, multiple mutations were identified in phosphoinositide-3-kinase (PI3K), catalytic, alpha polypeptide (PIK3CA) (H1047R, E→lysine at codon 545 [E545K], and H→proline at codon 701 [H701P]) that were not observed previously in osteosarcoma. 22006429

2012

dbSNP: rs121913279
rs121913279
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
0.010 GeneticVariation BEFREE Notably, multiple mutations were identified in phosphoinositide-3-kinase (PI3K), catalytic, alpha polypeptide (PIK3CA) (H1047R, E→lysine at codon 545 [E545K], and H→proline at codon 701 [H701P]) that were not observed previously in osteosarcoma. 22006429

2012

dbSNP: rs121913279
rs121913279
Pancreatic intraepithelial neoplasia
0.010 GeneticVariation BEFREE Here, we show that expression of BRAF(V600E), but not PIK3CA(H1047R), in the mouse pancreas leads to pancreatic intraepithelial neoplasia (PanIN) lesions. 22628411

2012

dbSNP: rs121913279
rs121913279
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.010 GeneticVariation BEFREE Notably, multiple mutations were identified in phosphoinositide-3-kinase (PI3K), catalytic, alpha polypeptide (PIK3CA) (H1047R, E→lysine at codon 545 [E545K], and H→proline at codon 701 [H701P]) that were not observed previously in osteosarcoma. 22006429

2012

dbSNP: rs104886003
rs104886003
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Finally, RNA profiling of lung epithelial cells (BEAS-2B) expressing a mutant allele of PIK3 (E545K) identified a network of transcription factors such as MYC, FOS and HMGA1, not previously recognised to be associated with aberrant PI3K signalling in lung cancer. 22363436

2012

dbSNP: rs104886003
rs104886003
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
0.010 GeneticVariation BEFREE Notably, multiple mutations were identified in phosphoinositide-3-kinase (PI3K), catalytic, alpha polypeptide (PIK3CA) (H1047R, E→lysine at codon 545 [E545K], and H→proline at codon 701 [H701P]) that were not observed previously in osteosarcoma. 22006429

2012

dbSNP: rs104886003
rs104886003
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.010 GeneticVariation BEFREE Notably, multiple mutations were identified in phosphoinositide-3-kinase (PI3K), catalytic, alpha polypeptide (PIK3CA) (H1047R, E→lysine at codon 545 [E545K], and H→proline at codon 701 [H701P]) that were not observed previously in osteosarcoma. 22006429

2012

dbSNP: rs104886003
rs104886003
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 GeneticVariation BEFREE Finally, RNA profiling of lung epithelial cells (BEAS-2B) expressing a mutant allele of PIK3 (E545K) identified a network of transcription factors such as MYC, FOS and HMGA1, not previously recognised to be associated with aberrant PI3K signalling in lung cancer. 22363436

2012

dbSNP: rs104886003
rs104886003
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
0.010 GeneticVariation BEFREE Notably, multiple mutations were identified in phosphoinositide-3-kinase (PI3K), catalytic, alpha polypeptide (PIK3CA) (H1047R, E→lysine at codon 545 [E545K], and H→proline at codon 701 [H701P]) that were not observed previously in osteosarcoma. 22006429

2012