Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913279
rs121913279
PIK3CA
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 GeneticVariation BEFREE One hundred twenty-three patients were evaluated and the PIK3CA-H1047R mutation was assayed in sentinel LNs (SLNs), non-SLNs without metastasis, and serum by digital PCR. 30805870

2019
dbSNP: rs121913279
rs121913279
PIK3CA
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 GeneticVariation BEFREE This is best illustrated by an activating PIK3CA mutation (H1047R) which was clonal in the primary tumor, but completely absent from either the metastasis or cfDNA. 26317216

2015
dbSNP: rs121913279
rs121913279
PIK3CA
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 GeneticVariation BEFREE In addition, the oncogenic PIK3CA(H1047R) mutation was detected in a subpopulation of PV1, but this mutation did not seem to play a major role in vemurafenib resistance in this metastasis. 23948972

2013