Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Progressive Neoplastic Disease
CUI: C0677932
Disease: Progressive Neoplastic Disease
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