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Abstract Genetics has a major role in controlling breast cancer. Some studies report a risk of developing 60–80% lifetime breast cancer in the presence of mutations which is much higher than the 12.5% risk of the general population. Lots of genes have been identified in relation to breast cancer. Mutations and abnormal amplification of both oncogenes and anti-oncogenes play key roles in the processes of tumour initiation and progression. High penetrance genes that increase the risk of breast cancer, the aggregate polygenetic effect of low-penetrant variants (i.e. single nucleotide polymorphisms [SNPs]) may contribute at least 14% to the heritability of breast cancer .Several SNPs are associated with risk of breast cancer. Further, there may be genetic components common to risk of breast cancer and prognosis . The level of leptin plays a role in breast cancer and has potential for development as a diagnostic tool. The leptin system might play an important role in breast cancer pathogenesis and progression, and that it might represent a novel target for therapeutic intervention in breast cancer. Our results showed significant statistical difference among the two studied groups regarding to leptin concentration and body mass index (BMI) where BC patients showed much higher leptin levels and BMI than healthy control group. We investigated LEP gene -rs 7799039 and LEPR rs1137101 polymorphism in BC and the results of this study demonstrated a significant association of mutant G allele of LEPR rs1137101 and mutant A allele of LEP gene -rs 7799039 with the risk of disease. In addition, the circulating leptin level was markedly raised in patients versus healthy women. Although, mutant gene correlated with higher leptin levels than the wild gene of both SNPs, but this level did not reach a significant value. Interestingly, obesity was a significant feature of BC patients evidenced by higher BMI in patients. |