Significant association of BRCA۱, BRCA۲ and TP۵۳ gene polymorphisms with breast cancer risk in Khyber Pakhtunkhwa, Pakistan

Backgrounds: Molecular characterization of breast cancer facilitates to understand the diseasepathology and genes involvement such as BRCA۱, BRCA۲ and TP۵۳, the tumor suppressor genesresponsible for maintaining the genomic stability. Polymorphisms in these genes have beeninvestigated as a risk of breast cancer worldwide, but there is no such evidence from KhyberPakhtunkhwa, Pakistan. We aimed to investigate the associationof BRCA۱ (rs۱۷۹۹۹۵۰), BRCA۲ (rs۱۴۴۸۴۸) and TP۵۳ (rs۱۰۴۲۵۲۲) gene polymorphisms withbreast cancer risk in the patients of Khyber Pakhtunkhwa, Pakistan.Materials and Methods: A total of ۲۲۰ (۱۴۰ breast cancer patients and ۸۰ healthy controls)were recruited. The genomic DNA was extracted from the peripheral blood cells and genotypingwas performed using T-ARMS PCR technique.Results: Our results indicated that the risk allele of all the selected SNPs showed statisticallysignificant association with breast cancer, p<۰.۰۵ (BRCA۱, C- p = ۰.۰۰۱); (BRCA۲, C- p = ۰.۰۰۰)and (TP۵۳, C- p = ۰.۰۰۰). Similarly, all the genotypes carrying risk allele were also significantlyassociated with the breast cancer risk with p<۰.۰۵ (BRCA۱, TC- p=۰.۰۳۷, CC- p = ۰.۰۰۵);(BRCA۲, AC- p = ۰.۰۰۰, CC- p = ۰.۰۰۰) and (TP۵۳, GC- p = ۰.۰۰۰, CC- p = ۰.۰۰۰).Conclusion: The risk allele and risk allele containing genotypes showed statistically significantassociation with breast cancer risk in our region. More investigation will be required todisseminate the results with large data sets and using whole genome sequencing.

کلیدواژه ها:

Breast cancer risk ، BRCA۱ ، BRCA۲ ، TP۵۳ ، Polymorphisms