2017 Volume 63 Issue 5 Pages 344-347
Increasing evidence has demonstrated that the high-frequency, low-penetrant genetic variations play important roles in the carcinogenesis of breast cancer. Although each genetic variant confers modest effect on breast cancer risk, the multiple genetic variants can cumulatively result in considerable effects on breast cancer over decades. This review summarizes the study strategies on the most common genetic polymorphisms, single nucleotide polymorphisms, mainly including candidate gene approach and genome-wide association study (GWAS). The authors briefly introduce their research works as well as some other studies performed among Chinese Han women. The future challenge of genetic polymorphism association study is to identify the causal variants and elucidate their molecular mechanisms.
