Abstract
Genome-wide association studies (GWAS) are useful in assessing and analyzing either differences or variations in DNA sequences across the human genome to detect genetic risk factors of diseases prevalent within a target population under study. The ultimate goal of GWAS is to predict either disease risk or disease progression by identifying genetic risk factors. These risk factors will define the biological basis of disease susceptibility for the purposes of developing innovative, preventative, and therapeutic strategies. As single nucleotide polymorphisms (SNPs) are often used in GWAS, their relevance for triple negative breast cancer (TNBC) will be assessed in this review. Furthermore, as there are different levels and patterns of linkage disequilibrium (LD) present within different human subpopulations, a plausible strategy to evaluate known SNPs associated with incidence of breast cancer in ethnically different patient cohorts will be presented and discussed. Additionally, a description of GWAS for TNBC will be presented, involving various identified SNPs correlated with miRNA sites to determine their efficacies on either prognosis or progression of TNBC in patients. Although GWAS have identified multiple common breast cancer susceptibility variants that individually would result in minor risks, it is their combined effects that would likely result in major risks. Thus, one approach to quantify synergistic effects of such common variants is to utilize polygenic risk scores. Therefore, studies utilizing predictive risk scores (PRSs) based on known breast cancer susceptibility SNPs will be evaluated. Such PRSs are potentially useful in improving stratification for screening, particularly when combining family history, other risk factors, and risk prediction models. In conclusion, although interpretation of the results from GWAS remains a challenge, the use of SNPs associated with TNBC may elucidate and better contextualize these studies.
Highlights
One of the most important discoveries of modern genetics following the release of the complete sequence of the human genome and mapping of all genes is the role of genetic variation in disease incidence
For rs8170, we identified a single single nucleotide polymorphisms (SNPs) that was associated with ovarian cancer; three SNPs that were associated with breast cancer; and a single SNP, rs2363956, that was associated with triple negative breast cancer (TNBC) (Figure 3)
Genome-wide association studies (GWAS) catalogues or databases offer valuable SNP libraries that assist in gaining a better understanding of a target human disease in correlation with other diseases, and facilitate in developing new research strategies that could aid clinicians
Summary
One of the most important discoveries of modern genetics following the release of the complete sequence of the human genome and mapping of all genes is the role of genetic variation in disease incidence. It is known that GWAS assess and analyze differences or variations in DNA sequences across the human genome to detect genetic risk factors of diseases prevalent in a population under investigation. The CD–CV hypothesis [8] has been developed based on the following two principles: common diseases differ from rare disorders in terms of their underlying genetic architecture, and the discovery of several susceptibility variants for a common disease is of high minor allele frequency [2] In other words, this hypothesis proposes that common diseases are influenced by genetic variations common within a population [8]. It is important not to jump to the conclusion that the entire genetic component of any disease is attributable only to common alleles
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