Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057517590
rs1057517590
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs1057518635
rs1057518635
BRCA2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518636
rs1057518636
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		GA 0.700 CausalMutation CLINVAR

dbSNP: rs1057518637
rs1057518637
BRCA2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518638
rs1057518638
BRCA2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519045
rs1057519045
FGFR2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519699
rs1057519699
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials. 22162582

2012
dbSNP: rs1057519699
rs1057519699
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR Phase I, dose-escalation study of BKM120, an oral pan-Class I PI3K inhibitor, in patients with advanced solid tumors. 22162589

2012
dbSNP: rs1057519699
rs1057519699
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. 20453058

2010
dbSNP: rs1057519699
rs1057519699
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974

2008
dbSNP: rs1057519699
rs1057519699
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. 18676830

2008
dbSNP: rs1057519699
rs1057519699
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370

2005
dbSNP: rs1057519699
rs1057519699
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR PIK3CA mutations correlate with hormone receptors, node metastasis, and ERBB2, and are mutually exclusive with PTEN loss in human breast carcinoma. 15805248

2005
dbSNP: rs1057519699
rs1057519699
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419

2004
dbSNP: rs1057519714
rs1057519714
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. 24185512

2013
dbSNP: rs1057519715
rs1057519715
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. 24185512

2013
dbSNP: rs1057519716
rs1057519716
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. 24185512

2013
dbSNP: rs1057519717
rs1057519717
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		G 0.700 CausalMutation CLINVAR Activating ESR1 mutations in hormone-resistant metastatic breast cancer. 24185510

2013
dbSNP: rs1057519717
rs1057519717
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		G 0.700 CausalMutation CLINVAR ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. 24185512

2013