Application of Next Generation Sequencing technology to determine breast cancer risk among Bangladeshi women

Abstract

Abstract Recent advancement in sequencing technology had led to the accurate and precise diagnosis of deadly diseases like breast cancer. Breast cancer is the second most common cancer in women, therefore, early diagnosis of this critical disease is important for prevention and therapeutic implications. BRCA1and BRCA2genes are significantly associated with breast cancer aetiology. Individuals carrying a germline mutation in BRCAgenes increase their chance of developing breast or ovarian cancer in women and pancreatic cancer in both sexes. The purpose of this study was to determine the germline mutations of BRACAamong the risk group of Bangladeshi women using Next Generation Sequencing (NGS). One hundred patients were selected randomly from the outdoor breast cancer clinic of DNA Solution Ltd. Using ‘Six-Point Scale’ twenty individuals were selected for BRCAgene mutation study. A clinical database was maintained to record personal and familial cancer history of the selected individuals. Personal identification was preserved according to Helsinki principals. Out of twenty enrolled individuals, seventeen individuals had a family history of cancer. However, upon sequencing data analysis, we observed only six patients carrying the pathogenic mutation of BRCAgene. This study only involved germline mutation and did not consider somatic mutation. Recent reports also suggest various genes other than BRCAare also associated with breast cancer occurrence. To our knowledge, this is the first time to use NGS technology to screen genetic mutations of breast cancer in Bangladesh. These data will help to develop early screening and possible prevention with better disease management in breast cancer. No Funding Support