Title: Significant association of BRCA1, BRCA2 and TP53 gene polymorphisms with breast cancer risk in Khyber Pakhtunkhwa, Pakistan

Abstract:

Molecular characterization of breast cancer heterogeneity facilitates the understanding of disease etiology and progression. More specifically, mutations in known and tumor suppressor genes such as BRCA1, BRCA2 and TP53, result in the alteration of a genomic landscape within sporadic and familial breast cancers. Single nucleotide polymorphisms (SNPs) are described as a mutation with a particular prevalence in certain ethinic population that in turn result in the altered prevalence of disease, the tumor suppressor genes responsible for maintaining the genomic stability. Certain SNPs in BRCA1, BRCA2 and TP53 are known to correlate with elevated risk of breast cancer development worldwide, however there is no such study categorizing the risk of breast cancer development in the Khyber Pakhtunkhwa population in Pakistan.