rs121913279, PIK3CA

N. diseases: 101
Disease: Progressive cGVHD ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Progressive cGVHD
CUI: C3539781
Disease: Progressive cGVHD
0.010 GeneticVariation BEFREE Whole exome sequencing performed in tumor tissue obtained at the time of progressive disease demonstrated a somatic gain-of-function PIK3CA mutation (H1047R) as well as a CDKN2A aberration, which may have contributed to eventual resistance to treatment. 23470635 2013