Abstract
Breast cancer is most frequently diagnosed malignancy among women representing a quarter of all cancers. FGFR2 is one of low penetrance genes. FGFR2 gene has a role in development and progression of BC.The SNP rs2981582 associated with a higher level of FGFR2 transcription both in cell lines and in tumors.
The aim of this work was to study the association between the rs2981582 and breast cancer risk in Egyptian women.
The studied subjects were classified into 50 apparently healthy volunteers and 50 of BC cases. Genomic DNA was extracted from peripheral blood leukocytes by using ion-exchange column chromatography. Genotyping was done using an allelic discrimination real-time PCR using TaqMan probes technology.
The present study revealed that, the genotype distribution pattern of rs2981582 was statistically significant between cases and controls. Both of heterozygous AG and mutant homozygous genotype AA showed higher frequency in cases while the wild homozygous GG showed higher frequency in controls. Heterozygous genotype was associated with increased breast cancer risk. The minor allele A showed higher frequency in cases, and it was associated with increased breast cancer risk.
Furthermore, the minor allele A showed a higher frequency in ER, PR positive patients, Luminal A tumors, positive lymph node involvement and patients with positive family history.
In conclusion: the present work demonstrated that the minor allele of rs2981582 of FGFR2 gene is associated with increased breast cancer risk in Egyptian women.