title: An investigation of the effects of FGFR2 and B7-H4 polymorphisms in breast cancer.
abstract: BACKGROUND
  Polymorphisms in FGFR2 are important markers for breast cancer susceptibility in the general population. CHEK2 and FGFR2 polymorphisms with known susceptibility alleles of BRCA1, BRCA2, PTEN, and TP53, can be investigated as potential modifiers of high penetrant risk alleles. Although the B7-H4 gene is highly expressed in many different tumors, there is one published study showing the association of polymorphisms with breast cancer. We aimed to investigate FGFR2 and B7-H4 polymorphisms in breast cancer in the Turkish community.
  
  
  METHODS
  In a group of 31 cases diagnosed with breast cancer and 30 healthy women with matched ages, the single-nucleotide polymorphisms (SNPs) rs1219648, rs2981582 in FGFR2 gene were identified by sequence analysis and the SNPs rs10754339, rs10801935, and rs3738414 in the B7-H4 gene were identified by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Statistical analysis was performed using SPSS.
  
  
  RESULTS
  Although statistically not significant, the frequency of FGFR2 heterozygous polymorphisms in the group with breast cancer was detected to be higher. In the B7-H4 SNP rs10801935, polymorphic AA, and AG genotype distributions were found in higher frequencies in the breast cancer patients. In contrast to the results of a published study, the present study shows that B7-H4 rs3738414 polymorphism GG genotype was found in higher frequency in the control group than the breast cancer group and the result was statistically significant (P=0.018).
  
  
  CONCLUSIONS
  Larger scale studies are necessary to determine the prevalence of these polymorphisms and association with breast cancer in Turkish community, as this study is the first study performed.
authors.affiliation: Department of Nutrition and Dietetics, Kastamonu University, Fazil Boyner School of Health, Kastamonu, Turkey.
authors.forename: Asuman
authors.initials: A
authors.lastname: Ozgöz
authors.forename: Hale
authors.initials: H
authors.lastname: Samli
authors.forename: Kuyaș Hekimler
authors.initials: KH
authors.lastname: Oztürk
authors.forename: Bülent
authors.initials: B
authors.lastname: Orhan
authors.forename: Fadime Mutlu
authors.initials: FM
authors.lastname: Icduygu
authors.forename: Fatma
authors.initials: F
authors.lastname: Aktepe
authors.forename: Necat
authors.initials: N
authors.lastname: Imirzalioglu
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D012306:Risk; D014421:Turkey; D060907:V-Set Domain-Containing T-Cell Activation Inhibitor 1 / Q000235:genetics*
chemical_list: D060907:V-Set Domain-Containing T-Cell Activation Inhibitor 1; C475826:VTCN1 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2