ABSTRACT
Objective The aim of this study was to investigate the association between single nucleotide polymorphisms(SNPs)in FGFR3 gene and the risk of breast cancer.Methods The frequency of SNP genotypes rs2234909 and rs3135848 of FGFR3 gene in premenopausal breast cancer patients and premenopausal normal fe-males were detected by multiple clonal extension SNP typing technique.The SNP genotypes were compared with different SNP genotypes and the risk of premenopausal breast cancer.Results There was no difference in the genotype frequencies of SNP rs 2234909 and rs3135848 between breast cancer and control groups(P>0.05).Lo-gistic regression analysis showed that there was no correlation between TC and TC +CC genotype and risk of breast cancer(OR=1.035,95% CI:0.680~1.575,P=0.874;OR=0.985,95% CI:0.638~1.521,P=0. 945).For the rs3135848 locus,the genotypes of TC,CC and TC+CC were not associated with the risk of breast cancer(OR=1.177,95%CI:0.846-1.636,P=0.333;OR=0.948,95% CI:0.287-3.137,P=0.931;OR=1.162,95%CI:0.548~1.112,P=0.360).Histological grade was significantly higher in breast cancer with rs2234909 mutation than that of the non-mutation group(dominant model:P=0.032,co-dominant model:P=0.024).The Ki67 index of FGFR3 gene locus rs2234909 mutation was higher than that of the non-mutation (dominant model:P=0.056;co-dominant model:P=0.044).There was no difference between rs3135848 mu-tation and both site mutation with clinicopathological features of breast cancer patients(P>0.05).Conclusion The SNP genotypes of rs2234909 and rs3135848 of FGFR3 gene were not associated with susceptibility to breast cancer in premenopausal women in North of China.Rs2234909 mutation was positively correlated with histological grade and Ki67 index in premenopausal breast cancer patients.
ABSTRACT
Objective The aim of this study was to investigate the association between single nucleotide polymorphisms(SNPs)in FGFR3 gene and the risk of breast cancer.Methods The frequency of SNP genotypes rs2234909 and rs3135848 of FGFR3 gene in premenopausal breast cancer patients and premenopausal normal fe-males were detected by multiple clonal extension SNP typing technique.The SNP genotypes were compared with different SNP genotypes and the risk of premenopausal breast cancer.Results There was no difference in the genotype frequencies of SNP rs 2234909 and rs3135848 between breast cancer and control groups(P>0.05).Lo-gistic regression analysis showed that there was no correlation between TC and TC +CC genotype and risk of breast cancer(OR=1.035,95% CI:0.680~1.575,P=0.874;OR=0.985,95% CI:0.638~1.521,P=0. 945).For the rs3135848 locus,the genotypes of TC,CC and TC+CC were not associated with the risk of breast cancer(OR=1.177,95%CI:0.846-1.636,P=0.333;OR=0.948,95% CI:0.287-3.137,P=0.931;OR=1.162,95%CI:0.548~1.112,P=0.360).Histological grade was significantly higher in breast cancer with rs2234909 mutation than that of the non-mutation group(dominant model:P=0.032,co-dominant model:P=0.024).The Ki67 index of FGFR3 gene locus rs2234909 mutation was higher than that of the non-mutation (dominant model:P=0.056;co-dominant model:P=0.044).There was no difference between rs3135848 mu-tation and both site mutation with clinicopathological features of breast cancer patients(P>0.05).Conclusion The SNP genotypes of rs2234909 and rs3135848 of FGFR3 gene were not associated with susceptibility to breast cancer in premenopausal women in North of China.Rs2234909 mutation was positively correlated with histological grade and Ki67 index in premenopausal breast cancer patients.
ABSTRACT
Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is located on the short arm of chromosome 4. A definite diagnosis should be established by molecular genetic analysis to find out the abnormal mutations in the FGFR3 gene. We confirmed by detection of a R248C mutation in the FGFR3 gene in DNA analysis.