Analysis of P4 receptors polymorphisms in the development of breast cancer: A study of Southern Punjab (Pakistan)

Contrary to reports with conflicting results, progesterone is suspected to play an important role in the development of tumours in the women. A research work was conducted to assess the significance of PGR SNPs (progesterone receptor) polymorphisms in the progression of breast cancer in southern Punjab (Pakistan). Because of the lack of detailed analysis of PGR gene variations in the Pakistani community, two variants PROGINS and +331G/A were selected. The Radiology and Oncology Department at Nishtar Medical College and Hospital in Multan, Pakistan, assisted researchers for enrolling 100 invasive breast cancer patients and one hundred and fifteen healthy controls. DNA was isolated using a non-organic method, and two SNPs were analysed by (Polymerase Chain Reaction Restriction Fragment length polymorphism) PCR-RFLP. Study participants were examined for their clinical/family history, demographic factors (e.g. age, Menopause, age of menopause, marital status, gestation status, history of memory carcinoma, cigarette consumption, and chemical exposure), and other variables being related to specific symptomatology. The wild type allele of both SNPs was observed with highest prevalence in patients and control individuals followed by heterozygous allele while homozygous mutant allele was present in least numbers. Chi square statistics for PROGINS showed (p= 0.448) an evidence of non-significant association while +331G/A variant (p=0.004) showed an inverse association with breast cancer risk. Further genetic studies using progesterone receptors for breast cancer risk can use our results as a database.