rs121913476, FGFR2

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Nasopharyngeal Neoplasms
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
endometrial adenoacanthoma
CUI: C0279763
Disease: endometrial adenoacanthoma
0.700 GeneticVariation CLINVAR The N550K/H mutations in FGFR2 confer differential resistance to PD173074, dovitinib, and ponatinib ATP-competitive inhibitors. 23908597 2013
endometrial adenoacanthoma
CUI: C0279763
Disease: endometrial adenoacanthoma
0.700 GeneticVariation CLINVAR The N550K/H mutations in FGFR2 confer differential resistance to PD173074, dovitinib, and ponatinib ATP-competitive inhibitors. 23908597 2013
endometrial adenoacanthoma
CUI: C0279763
Disease: endometrial adenoacanthoma
0.700 GeneticVariation CLINVAR Ponatinib (AP24534), a multitargeted pan-FGFR inhibitor with activity in multiple FGFR-amplified or mutated cancer models. 22238366 2012
endometrial adenoacanthoma
CUI: C0279763
Disease: endometrial adenoacanthoma
0.700 GeneticVariation CLINVAR FGFR genetic alterations predict for sensitivity to NVP-BGJ398, a selective pan-FGFR inhibitor. 23002168 2012
endometrial adenoacanthoma
CUI: C0279763
Disease: endometrial adenoacanthoma
0.700 GeneticVariation CLINVAR FGFR genetic alterations predict for sensitivity to NVP-BGJ398, a selective pan-FGFR inhibitor. 23002168 2012
endometrial adenoacanthoma
CUI: C0279763
Disease: endometrial adenoacanthoma
0.700 GeneticVariation CLINVAR Ponatinib (AP24534), a multitargeted pan-FGFR inhibitor with activity in multiple FGFR-amplified or mutated cancer models. 22238366 2012
endometrial adenoacanthoma
CUI: C0279763
Disease: endometrial adenoacanthoma
0.700 GeneticVariation CLINVAR Drug-sensitive FGFR2 mutations in endometrial carcinoma. 18552176 2008
endometrial adenoacanthoma
CUI: C0279763
Disease: endometrial adenoacanthoma
0.700 GeneticVariation CLINVAR Drug-sensitive FGFR2 mutations in endometrial carcinoma. 18552176 2008
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
0.020 GeneticVariation BEFREE We cultured BaF3 cells overexpressing FGFR2 in high concentrations of dovitinib and identified 14 dovitinib-resistant mutations, including the N550K mutation observed in 25% of FGFR2(mutant) endometrial cancers (ECs). 23908597 2013
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
0.020 GeneticVariation BEFREE FGFR2 exons 7 and 12 unlabeled DNA probes allow for easy screening of endometrial carcinoma for the 2 most common FGFR2 mutations (S252W and N550K). 21285871 2011
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE The two most common somatic mutations identified were S252W (in eight tumors) and N550K (in five samples). 17525745 2007