rs1219648, FGFR2

N. diseases: 17
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.800 GeneticVariation GWASDB A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. 17529973 2007
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.800 GeneticVariation GWASCAT A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. 17529973 2007
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.800 GeneticVariation BEFREE We genotyped 13 single nucleotide polymorphisms (SNPs) densely covering a 27 kb region within intron 2 of FGFR2 including two SNPs (rs2981582 and rs1219648) significantly associated with breast cancer and a total 40 tagSNPs across 150 kb of the FGFR2 gene. 18285324 2008
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.800 GeneticVariation BEFREE We genotyped 13 single nucleotide polymorphisms (SNPs) densely covering a 27 kb region within intron 2 of FGFR2 including two SNPs (rs2981582 and rs1219648) significantly associated with breast cancer and a total 40 tagSNPs across 150 kb of the FGFR2 gene. 18285324 2008
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.800 GeneticVariation BEFREE Genetic variation in FGFR2, identified by rs1219648, may account for a substantial fraction of breast cancer in Arab (12%), Ashkenazi (15%), and Sephardi Jewish (22%) populations. 18483326 2008
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.800 GeneticVariation BEFREE Genetic variation in FGFR2, identified by rs1219648, may account for a substantial fraction of breast cancer in Arab (12%), Ashkenazi (15%), and Sephardi Jewish (22%) populations. 18483326 2008
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
0.010 GeneticVariation BEFREE We also observed a nonsignificant inverse association with rs889312 (MAP3K1) variant carriers [OR = 0.85 (95% CI: 0.68-1.05)] and rs1219648 (FGFR2) variant carriers [OR= 0.86 (95% CI: 0.69-1.06) and endometrial cancer risk. 18785201 2008
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE We also observed a nonsignificant inverse association with rs889312 (MAP3K1) variant carriers [OR = 0.85 (95% CI: 0.68-1.05)] and rs1219648 (FGFR2) variant carriers [OR= 0.86 (95% CI: 0.69-1.06) and endometrial cancer risk. 18785201 2008
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.800 GeneticVariation BEFREE FGFR2 rs1219648 and rs2981582 genotypes were significantly associated with breast cancer</span> in EA only in estrogen receptor-positive (ER+), progesterone receptor-positive (PR+) and HER2/Neu-negative (HER2-) tumors. 19028704 2009
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.800 GeneticVariation BEFREE FGFR2 rs1219648 and rs2981582 genotypes were significantly associated with breast cancer</span> in EA only in estrogen receptor-positive (ER+), progesterone receptor-positive (PR+) and HER2/Neu-negative (HER2-) tumors. 19028704 2009
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.020 GeneticVariation BEFREE FGFR2 rs1219648 and rs2981582 genotypes were significantly associated with breast cancer in EA only in estrogen receptor-positive (ER+), progesterone receptor-positive (PR+) and HER2/Neu-negative (HER2-) tumors. 19028704 2009
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.800 GeneticVariation BEFREE Two single-nucleotide polymorphisms, rs13387042 (2q35) and rs1219648 (FGFR2 gene), were found to be associated with breast cancer risk. 19789366 2009
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.800 GeneticVariation BEFREE Two single-nucleotide polymorphisms, rs13387042 (2q35) and rs1219648 (FGFR2 gene), were found to be associated with breast cancer risk. 19789366 2009
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.800 GeneticVariation BEFREE Three commonly studied FGFR2 polymorphisms including rs1219648 (A > G), rs2420946 (C > T), and rs2981582 (C > T) were selected to explore their association with risk of development of breast cancer by meta-analysis of published case-control studies. 20300826 2010
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.800 GeneticVariation BEFREE Three commonly studied FGFR2 polymorphisms including rs1219648 (A > G), rs2420946 (C > T), and rs2981582 (C > T) were selected to explore their association with risk of development of breast cancer by meta-analysis of published case-control studies. 20300826 2010
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.800 GeneticVariation BEFREE In conclusion, this meta-analysis suggests that rs2981582, rs1219648, and rs2420946 polymorphisms in FGFR2 are associated with elevated BC risk. 20364400 2010
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.800 GeneticVariation BEFREE In conclusion, this meta-analysis suggests that rs2981582, rs1219648, and rs2420946 polymorphisms in FGFR2 are associated with elevated BC risk. 20364400 2010
Nasopharyngeal carcinoma
CUI: C2931822
Disease: Nasopharyngeal carcinoma
0.700 GeneticVariation GWASDB A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci. 20512145 2010
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.800 GeneticVariation BEFREE In this study, we evaluated the association of the SNP rs1982073 (Leu10Pro) in transforming growth factor-beta 1 (TGFB1) gene and the SNP rs1219648 in fibroblast growth factor receptor 2 (FGFR2) gene with the risk and aggressiveness of breast cancer among women of Han nationality in North China. 20640597 2011
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.800 GeneticVariation BEFREE Therefore, the SNPs of TGFB1 rs1982073 and FGFR2 rs1219648 may contribute to the identification of patients with more aggressive breast cancers among Han women in North China. 20640597 2011
Secondary malignant neoplasm of lymph node
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
0.010 GeneticVariation BEFREE For FGFR2 SNP rs1219648, G-carriers (A/G+G/G genotype) were more significantly linked to tumors with lymph node metastasis than those with A/A genotype (lymph node negative) (OR = 1.69, 95% CI: 1.11-2.58, P = 0.016). 20640597 2011
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.800 GeneticVariation BEFREE The FGFR2-breast cancer association was modified by smoking status, with increased risk for former and current smokers compared to never smokers; former/current smokers carrying two copies of the rs1219648 minor allele were at highest risk with a crude OR (95% confidence interval) of 2.11 (1.52-2.92) compared to never smokers with no rs1219648 variant alleles. 20853316 2011
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.800 GeneticVariation BEFREE The FGFR2-breast cancer association was modified by smoking status, with increased risk for former and current smokers compared to never smokers; former/current smokers carrying two copies of the rs1219648 minor allele were at highest risk with a crude OR (95% confidence interval) of 2.11 (1.52-2.92) compared to never smokers with no rs1219648 variant alleles. 20853316 2011
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.800 GeneticVariation GWASCAT A combined analysis of genome-wide association studies in breast cancer. 20872241 2011
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.800 GeneticVariation GWASDB A combined analysis of genome-wide association studies in breast cancer. 20872241 2011