Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs559063155
rs559063155
SF3B1
0.010 GeneticVariation BEFREE Additional profiling of hotspot mutations in a panel of special histological subtypes of breast cancer showed that 16% and 6% of papillary and mucinous carcinomas of the breast harboured the SF3B1 K700E mutation. 25424858

2015
dbSNP: rs11554273
rs11554273
GNAS
0.010 GeneticVariation BEFREE GNAS mutations (p.R201H, c.602G>A and p.R201C, and c.602C>T) were identified in 17 (31%) of 55 of disseminated mucinous neoplasms and were found in 8 (35%) of 23 low-grade mucinous neoplasms, 7 (37%) of 19 high-grade mucinous adenocarcinomas lacking a signet ring cell component, and 2 (15%) of 13 high-grade mucinous adenocarcinomas with a signet ring cell component. 24925222

2014
dbSNP: rs121913530
rs121913530
KRAS
0.010 GeneticVariation BEFREE KRAS gene was wild type in 18 cases, whereas one mucinous carcinoma harboured a point mutation at codon 12 (G12R). 24454858

2014
dbSNP: rs564064363
rs564064363
ERBB2
0.010 GeneticVariation BEFREE KRAS gene was wild type in 18 cases, whereas one mucinous carcinoma harboured a point mutation at codon 12 (G12R). 24454858

2014
dbSNP: rs1057519847
rs1057519847
EGFR
0.010 GeneticVariation BEFREE Here, we show that haploinsufficiency of Nkx2-1 in combination with oncogenic Kras(G12D), but not with oncogenic EGFR(L858R), caused pulmonary tumors in transgenic mice that were phenotypically similar to human mucinous adenocarcinomas. 23143308

2012
dbSNP: rs1057519848
rs1057519848
EGFR
0.010 GeneticVariation BEFREE Here, we show that haploinsufficiency of Nkx2-1 in combination with oncogenic Kras(G12D), but not with oncogenic EGFR(L858R), caused pulmonary tumors in transgenic mice that were phenotypically similar to human mucinous adenocarcinomas. 23143308

2012
dbSNP: rs113488022
rs113488022
BRAF
0.010 GeneticVariation BEFREE BRAF V600E mutation and CpG island methylation phenotype-positive status are similar in signet ring cell carcinoma and mucinous adenocarcinoma but more frequent when compared with conventional adenocarcinoma. 22522845

2012
dbSNP: rs121434568
rs121434568
EGFR
0.010 GeneticVariation BEFREE Here, we show that haploinsufficiency of Nkx2-1 in combination with oncogenic Kras(G12D), but not with oncogenic EGFR(L858R), caused pulmonary tumors in transgenic mice that were phenotypically similar to human mucinous adenocarcinomas. 23143308

2012
dbSNP: rs121913377
rs121913377
BRAF
0.010 GeneticVariation BEFREE BRAF V600E mutation and CpG island methylation phenotype-positive status are similar in signet ring cell carcinoma and mucinous adenocarcinoma but more frequent when compared with conventional adenocarcinoma. 22522845

2012
dbSNP: rs767808984
rs767808984
NKX2-1 ; SFTA3 ; NKX2-1-AS1
0.010 GeneticVariation BEFREE Kras(G12D) and Nkx2-1 haploinsufficiency induce mucinous adenocarcinoma of the lung. 23143308

2012