KEGG   VARIANT: 5290v1
Entry
5290v1                      Variant                                
Name
PIK3CA mutation
Type
Gain of function
Gene
PIK3CA  phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [KO:K00922]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation E542K
ClinVar: 31944
dbSNP: rs121913273
Variation
mutation E545K
ClinVar: 13655
dbSNP: rs104886003
Variation
mutation H1047R
ClinVar: 13652
dbSNP: rs121913279
Variation
mutation H1047L
ClinVar: 13653
dbSNP: rs121913279
Variation
mutation E545A
ClinVar: 13659
dbSNP: rs121913274
Network
nt06214  PI3K signaling (cancer)
nt06263  Hepatocellular carcinoma
nt06270  Breast cancer
nt06530  PI3K signaling
Disease
H00031  Breast cancer
H00048  Hepatocellular carcinoma
Drug target
Alpelisib: D11011<US>
Reference
PMID:28228706
  Authors
Lux MP, Fasching PA, Schrauder MG, Hein A, Jud SM, Rauh C, Beckmann MW
  Title
The PI3K Pathway: Background and Treatment Approaches.
  Journal
Breast Care (Basel) 11:398-404 (2016)
DOI:10.1159/000453133
Reference
PMID:26028978
  Authors
Mukohara T
  Title
PI3K mutations in breast cancer: prognostic and therapeutic implications.
  Journal
Breast Cancer (Dove Med Press) 7:111-23 (2015)
DOI:10.2147/BCTT.S60696
Reference
PMID:15608678
  Authors
Lee JW, Soung YH, Kim SY, Lee HW, Park WS, Nam SW, Kim SH, Lee JY, Yoo NJ, Lee SH
  Title
PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas.
  Journal
Oncogene 24:1477-80 (2005)
DOI:10.1038/sj.onc.1208304
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