Genetic and epigenetic alterations in the BRCAI gene in Singapore breast and/or ovarian cancer: A population-based study

Abstract

Among the major three ethnic groups in Singapore, the Malays have shown the greatest increase in the incidence of breast cancer over the past three decades. Another attribute of the Singapore Malays is their relatively homogenous structure due to low inclination towards migration and they tend to marry within their ethnic group. In addition, a recurrent BRCA1 mutation, c.2845insA, has been identified in Malay women with early-onset breast cancer. Prior to this study, limited data was available on the genetic and epigenetic BRCA1 alterations in Singapore breast and/or ovarian cancers. In this study, genetic alterations of the BRCA1 gene in Singapore Malay women with breast and/or ovarian cancer were investigated. Epigenetic alteration, in the form of promoter hypermethylation, and LOH in BRCA1 was also examined in Singapore women with sporadic breast cancer. Further, cancer-specific methylation patterns were analyzed breast tumours with BRCA1 promoter hypermethylation.