|(A;G)||2||1.20x risk for breast cancer|
|(G;G)||2.1||1.64x risk for breast cancer|
Based on a study of ~2500 female patients of European ancestry with sporadic postmenopausal breast cancer, this SNP in the FGFR2 showed the greatest risk. The risk allele is rs1219648(G), with a pooled odds ratio of 1.64 (CI:1.42-1.90) for rs1219648(G;G) homozygotes, and an odds ratio of 1.20 (CI: 1.07-1.42) for rs1219648(A;G) heterozygotes, compared with rs1219648(A;A) homozygotes.[PMID 17529973]
rs1219648 represents the SNP in the FGFR2 gene with the strongest association with breast cancer. However, nearby SNPs are almost as predictive. In particular, the following SNP alleles all have linkage values of 0.96 or greater with the rs1219648(G) allele in European populations:
[PMID 18285324] rs1219648 is not associated with endometriosis risk.
[PMID 18845558] Based on a study of 1,049 Chinese breast cancer patients, carriers of risk alleles at three SNPs (rs2981582, rs1219648 and rs2420946) were at 1.36x increased risk for breast cancer (CI: 1.13-1.62, p = 0.001).
[PMID 19028704] A study of 1,225 Caucasian breast cancer patients found a significant association between rs1219648 but only in women with estrogen receptor positive (ER+), progesterone receptor positive (PR+) and HER2/Neu negative (HER2-) tumors. An interaction was also observed between combined hormone replacement therapy use and rs1219648 genotypes on breast cancer risk in Caucasian women (p = 0.010).
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[PMID 20640597] Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs1982073 C allele and FGFR2 rs1219648 G allele in North China
[PMID 20699374] Evaluation of Breast Cancer Susceptibility Loci in Chinese Women
|Title||A combined analysis of genome-wide association studies in breast cancer|
|Odds Ratio||1.32 [1.22-1.42]|
|Title||Novel Breast Cancer Susceptibility Locus at 9q31.2: Results of a Genome-Wide Association Study|
|Odds Ratio||1.3100 [1.25-1.37]|
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|qualified_impact||Insufficiently evaluated pathogenic|
[PMID 23435034] Breast cancer susceptibility associated with rs1219648 (fibroblast growth factor receptor 2) and postmenopausal hormone therapy use in a population-based United States study
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