88. Significant association of BRCA1, BRCA2 and TP53 gene polymorphisms with breast cancer risk in Khyber Pakhtunkhwa, Pakis

Aly Abdelkareem

Najeeb Ullah Khan

This is Najeeb Ullah Khan from Pakistan. I have a Ph.D. in Biochemistry and Molecular Biology. Recently, I am working on human genetic variability and susceptibility to cancer. My focus is to find the most associated gene polymorphism with cancer risk in our region and check the potential of that particular gene polymorphism as a biomarker for disease monitoring, especially cancer early diagnosis, particularly breast cancer. So far, we have confirmed the association of BRCA1&2, TP53, RANKL, OPG, IL-6, HER2 etc) polymorphisms with breast cancer risk in our population (Pashtun ethnicity). Several other related studies are under process in breast and other cancer including the association of noncoding RNA (microRNAs) with cancer risk. Interested in any kind of research collaboration in the field of cancer Biology, cancer genetics and cancer early diagnosis.


Najeeb Ullah Khan

Institute of Biotechnology and Genetic Engineering, Peshawar, KPK, Pakistan

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.

We investigated known associative SNPs on the following risk alleles, BRCA1 (rs1799950), BRCA2 (rs144848) and TP53 (rs1042522) to determine the prevalence of these genetic elements within the Pakhtunkhwa population, and to further stratify the risk of breast cancer risk development conferred by such polymorphisms in the same population.

Our results indicated that risk alleles of all three selected SNPs showed statistically significant association with breast cancer presence, p<0.05 (BRCA1, C- p=0.001); (BRCA2, C- p=0.000) and (TP53, C- p=0.000). Similarly, all the genotypes carrying risk allele were also significantly associated with the breast cancer risk with p<0.05 (BRCA1, TC- p=0.037, CC- p=0.005); (BRCA2, AC- p=0.000, CC- p=0.000) and (TP53, GC- p=0.000, CC- p=0.000).

The risk allele and risk allele containing genotypes showed statistically significant association with breast cancer risk in our region. More investigation will be required to disseminate the results with large data sets and using whole genome sequencing.