rs121913279, PIK3CA

N. diseases: 101
Disease: Carcinoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.020 GeneticVariation BEFREE RNA sequencing and Sanger sequencing identified PIK3CA (p.E545K/p.H1047R) and/or HRAS (p.Q61R) hotspot mutations in 6 of 8 (75%) apocrine carcinomas. 29443014 2018
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.020 GeneticVariation BEFREE Somatic mutations of the PIK3CA gene were detected in 10/23 (43%) carcinomas and in all cases the type of mutation was H1047R in the kinase domain. 21735444 2011